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class="bkr_bib"><h1 id="_NBK604392_"><span itemprop="name">Carrier probability – people with ovarian cancer</span></h1><div class="subtitle">Ovarian cancer: identifying and managing familial and genetic risk</div><p><b>Evidence review I</b></p><p><i>NICE Guideline, No. 241</i></p><div class="half_rhythm">London: <a href="https://www.nice.org.uk" ref="pagearea=meta&targetsite=external&targetcat=link&targettype=publisher"><span itemprop="publisher">National Institute for Health and Care Excellence (NICE)</span></a>; <span itemprop="datePublished">2024 Mar</span>.<div class="small">ISBN-13: <span itemprop="isbn">978-1-4731-5829-0</span></div></div><div><a href="/books/about/copyright/">Copyright</a> © NICE 2024.</div></div><div class="bkr_clear"></div></div><div id="niceng241er9.s1"><h2 id="_niceng241er9_s1_">Carrier probability - women with ovarian cancer</h2><div id="niceng241er9.s1.1"><h3>Review question</h3><p>At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</p><div id="niceng241er9.s1.1.1"><h4>Introduction</h4><p>Up to 20% of ovarian cancers arise due to an inheritable cause; this is a significant minority. Identifying this significant minority is a clinical priority as it could have treatment implications for the patient and could enable risk reduction strategies in affected relatives. These causes of inheritable ovarian cancer are not always because of a single gene mutation (such as in the <i>BRCA</i> gene) but can be due to a complex interaction of a combination of small changes in the individuals DNA. Therefore, it is not always easy to illicit the underlying inheritable source.</p><p>Testing all ovarian cancer patients for an inheritable cause is one strategy to find those who have a germline cause for their cancer. However what test to do, how to interpret the results and the impact such testing would have on the provision of genomic services are all uncertain. Therefore, it may be that limiting testing to a probability that would increase the yield of positive results and make the interpretation of those results more reliable is preferable. This review question looks at the effects of applying various probabilities as a threshold for germline testing on the clinical outcomes.</p></div><div id="niceng241er9.s1.1.2"><h4>Summary of the protocol</h4><p>See <a href="/books/NBK604392/table/niceng241er9.tab1/?report=objectonly" target="object" rid-ob="figobniceng241er9tab1">Table 1</a> for a summary of the Population, Intervention, Comparison and Outcome (PICO) characteristics of this review.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er9tab1"><a href="/books/NBK604392/table/niceng241er9.tab1/?report=objectonly" target="object" title="Table 1" class="img_link icnblk_img" rid-ob="figobniceng241er9tab1"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er9.tab1"><a href="/books/NBK604392/table/niceng241er9.tab1/?report=objectonly" target="object" rid-ob="figobniceng241er9tab1">Table 1</a></h4><p class="float-caption no_bottom_margin">Summary of the protocol (PICO table). </p></div></div><p>For further details see the review protocol in <a href="#niceng241er9.appa">appendix A</a>.</p></div><div id="niceng241er9.s1.1.3"><h4>Methods and process</h4><p>This evidence review was developed using the methods and process described in <a href="https://www.nice.org.uk/process/pmg20/chapter/introduction" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Developing NICE guidelines: the manual</a>. Methods specific to this review question are described in the review protocol in <a href="#niceng241er9.appa">appendix A</a> and the <a href="/books/NBK604392/bin/NG241-Supplement1-Methods.pdf">methods</a> document (supplementary document 1).</p><p>Declarations of interest were recorded according to <a href="https://www.nice.org.uk/about/who-we-are/policies-and-procedures" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NICE’s conflicts of interest policy</a>.</p></div><div id="niceng241er9.s1.1.4"><h4>Effectiveness evidence</h4><div id="niceng241er9.s1.1.4.1"><h5>Included studies</h5><p>Four studies were included in this review, 1 cross-sectional study (<a class="bibr" href="#niceng241er9.ref3" rid="niceng241er9.ref3">Chandrasekaran 2021</a>) and 3 systematic reviews (<a class="bibr" href="#niceng241er9.ref1" rid="niceng241er9.ref1">Arts-de Jong 2016</a>, <a class="bibr" href="#niceng241er9.ref2" rid="niceng241er9.ref2">Atwal 2022</a>, Witjes 2022).</p><p><a class="bibr" href="#niceng241er9.ref3" rid="niceng241er9.ref3">Chandrasekaran 2021</a> reported the prevalence of germline pathological variants of <i>BRCA1/2, RAD51C, RAD51D,</i> and <i>BRIP1</i> in women with high-grade non-mucinous epithelial ovarian cancer. The systematic reviews (<a class="bibr" href="#niceng241er9.ref1" rid="niceng241er9.ref1">Arts-de Jong 2016</a>, <a class="bibr" href="#niceng241er9.ref2" rid="niceng241er9.ref2">Atwal 2022</a>, Witjes 2022) reported the prevalence of germline pathological variants associated with ovarian cancer in women with ovarian cancer according to subgroups including: histological type of ovarian cancer, age at onset, family history. There is no overlap of studies included in the systematic reviews by <a class="bibr" href="#niceng241er9.ref1" rid="niceng241er9.ref1">Arts-de Jong 2016</a> and Witjes 2022.</p><p>The included studies are summarised in <a href="/books/NBK604392/table/niceng241er9.tab2/?report=objectonly" target="object" rid-ob="figobniceng241er9tab2">Table 2</a>.</p><p>See the literature search strategy in <a href="#niceng241er9.appb">appendix B</a> and study selection flow chart in <a href="#niceng241er9.appc">appendix C</a>.</p></div><div id="niceng241er9.s1.1.4.2"><h5>Excluded studies</h5><p>Studies not included in this review are listed, and reasons for their exclusion are provided in <a href="#niceng241er9.appj">appendix J</a>.</p></div></div><div id="niceng241er9.s1.1.5"><h4>Summary of included studies</h4><p>Summaries of the studies that were included in this review are presented in <a href="/books/NBK604392/table/niceng241er9.tab2/?report=objectonly" target="object" rid-ob="figobniceng241er9tab2">Table 2</a>.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er9tab2"><a href="/books/NBK604392/table/niceng241er9.tab2/?report=objectonly" target="object" title="Table 2" class="img_link icnblk_img" rid-ob="figobniceng241er9tab2"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er9.tab2"><a href="/books/NBK604392/table/niceng241er9.tab2/?report=objectonly" target="object" rid-ob="figobniceng241er9tab2">Table 2</a></h4><p class="float-caption no_bottom_margin">Summary of included studies. </p></div></div><p>See the full evidence tables in <a href="#niceng241er9.appd">appendix D</a>. No meta-analysis was conducted (and so there are no forest plots in <a href="#niceng241er9.appe">appendix E</a>).</p></div><div id="niceng241er9.s1.1.6"><h4>Summary of the evidence</h4><p>There was a lack of studies comparing germline pathogenic variant analysis with no germline pathogenic variant analysis. However, there was a large body of evidence on the number of women with ovarian cancer who carry germline pathological variants (prevalence) of genes associated with ovarian cancer. This was reported both overall and within subgroups such as histological type of cancer, age at onset and family history of cancer. Pathological variants were seen in all of the subgroups analysed, suggesting that genetic testing could be useful in all cases of ovarian cancer.</p><p>There was a lack of evidence on incidence of other (non-ovarian) cancers and the rate of uptake of risk reducing treatments.</p><p>
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<b>
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<i>Prevalence of germline BRCA1/2 pathogenic variants in ovarian cancer overall, by histological subtype, age of onset and family history</i>
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</b>
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</p><p>There was low quality evidence that the overall prevalence of <i>BRCA1/2</i> pathological variants was around 13-17%. When grouping by histological type of ovarian cancer the highest prevalence of <i>BRCA1/2</i> pathological variants was around 22% in women with high grade serous cancers (low to high quality evidence).</p><p>Low quality evidence suggested that age of ovarian cancer onset was also associated with risk of <i>BRCA1/2</i> pathological variants, with the highest prevalence seen in the 40 – 50 year group, followed by the 50 – 60 year group. Very low quality evidence suggested that positive family history of breast or ovarian cancer was associated with a relatively high prevalence of <i>BRCA1/2</i> pathological variants (26%) when compared to those without a positive family history (6%).</p><p>
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<b>
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<i>Prevalence of germline MMR deficient pathogenic variants in ovarian cancer</i>
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</b>
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</p><p>Moderate quality evidence indicated that overall prevalence of <i>MMR</i> deficient pathological variants was 0.8% in unselected populations with ovarian cancer.</p><p>
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<b>
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<i>Prevalence of germline BRIP1, RAD51C, RAD51D, PALB2, ATM, MLH1, MSH2, MSH6, PMS2 pathological variants in ovarian cancer</i>
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</b>
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</p><p>Low quality evidence indicated that around 3% of women with ovarian cancer had germline pathological variants of <i>BRIP1, RAD51C, RAD51D, PALB2</i>, or <i>ATM</i> genes.</p><p>
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<b>
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<i>Prevalence of germline BRCA1, BRCA2, RAD51C, RAD51D or BRIP1 pathological variants in ovarian cancer</i>
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</b>
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</p><p>One study reported a prevalence of around 18% for pathological variants of <i>BRCA1, BRCA2, RAD51C, RAD51D</i> or <i>BRIP1</i> in women with ovarian cancer (moderate quality). In this study there was low to moderate quality evidence that women with high-grade serous cancer had a relatively high prevalence of pathological variants (around 20%) as did those with positive family history (46%).</p><p>See <a href="#niceng241er9.appf">appendix F</a> for full GRADE tables.</p></div><div id="niceng241er9.s1.1.7"><h4>Economic evidence</h4><div id="niceng241er9.s1.1.7.1"><h5>Included studies</h5><p>Five economic studies were identified which were relevant to this review (<a class="bibr" href="#niceng241er9.ref5" rid="niceng241er9.ref5">Eccleston 2017</a>, <a class="bibr" href="#niceng241er9.ref7" rid="niceng241er9.ref7">Hurry 2020</a>, <a class="bibr" href="#niceng241er9.ref8" rid="niceng241er9.ref8">NICE CG164 2013</a>, <a class="bibr" href="#niceng241er9.ref6" rid="niceng241er9.ref6">Moya-Alarcon 2019</a>, <a class="bibr" href="#niceng241er9.ref9" rid="niceng241er9.ref9">Manchanda 2024</a>, in publication). The manuscript by <a class="bibr" href="#niceng241er9.ref9" rid="niceng241er9.ref9">Manchanda (2024)</a> has been accepted for publication and the technical team has had a chance to review it before publication.</p><p>A single economic search was undertaken for all topics included in the scope of this guideline. See <a href="/books/NBK604392/bin/NG241-Supplement2-Economic-Literature-pdf.pdf">supplementary material 2</a> for details.</p></div><div id="niceng241er9.s1.1.7.2"><h5>Excluded studies</h5><p>Economic studies not included in this review are listed, and reasons for their exclusion are provided in <a href="#niceng241er9.appj">appendix J</a>.</p></div></div><div id="niceng241er9.s1.1.8"><h4>Summary of included economic evidence</h4><p>The systematic search of the economic literature undertaken for the guideline identified the following studies:</p><p><b>Women with breast or ovarian cancer with a carrier risk ranging from 5% to 40% (eligible first- and second-degree relatives were included only as part of sensitivity analysis):</b>
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<ul><li class="half_rhythm"><div>One UK study on the cost-utility of <i>BRCA</i> genetic testing for women affected by breast or ovarian cancer (<a class="bibr" href="#niceng241er9.ref8" rid="niceng241er9.ref8">NICE CG164 2013</a>).</div></li></ul></p><p><b>Women with ovarian cancer or breast cancer and their eligible first- and second-degree relatives:</b>
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<ul><li class="half_rhythm"><div>One UK study on the cost-utility of parallel <i>BRCA1/BRCA2/RAD51C/RAD51D/BRIP1</i> panel-germline and somatic <i>BRCA</i> testing of all ovarian cancer patients (plus PARP-i treatment) and the subsequent testing and management of their first- and second-degree relatives if index patient or first-degree relative were positive (<a class="bibr" href="#niceng241er9.ref9" rid="niceng241er9.ref9">Manchanda 2024</a>, in publication);</div></li><li class="half_rhythm"><div>One UK study on the cost-utility of <i>BRCA</i> testing for all women with epithelial ovarian cancer and the subsequent testing and management of their first- and second-degree relatives if index patient or first-degree relative were positive (<a class="bibr" href="#niceng241er9.ref5" rid="niceng241er9.ref5">Eccleston 2017</a>);</div></li><li class="half_rhythm"><div>One Canadian study on the cost-utility of <i>BRCA</i> testing for all women with ovarian or breast cancer and the subsequent testing and management of their first- and second-degree relatives if index patient or first-degree relative were positive (<a class="bibr" href="#niceng241er9.ref7" rid="niceng241er9.ref7">Hurry 2020</a>);</div></li><li class="half_rhythm"><div>One Spanish study on the cost-utility of <i>BRCA</i> testing for all women with incident non-mucinous high-grade epithelial ovarian cancer and the subsequent testing and management of their first and second-degree relatives if index patient or first-degree relative were positive (<a class="bibr" href="#niceng241er9.ref6" rid="niceng241er9.ref6">Moya-Alarcón 2019</a>).</div></li></ul></p><p>See the economic evidence tables in <a href="#niceng241er9.apph">appendix H</a>. See <a href="/books/NBK604392/table/niceng241er9.tab3/?report=objectonly" target="object" rid-ob="figobniceng241er9tab3">Table 3</a> and <a href="/books/NBK604392/table/niceng241er9.tab4/?report=objectonly" target="object" rid-ob="figobniceng241er9tab4">Table 4</a> for the economic evidence profiles of the included studies.</p><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er9tab3"><a href="/books/NBK604392/table/niceng241er9.tab3/?report=objectonly" target="object" title="Table 3" class="img_link icnblk_img" rid-ob="figobniceng241er9tab3"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er9.tab3"><a href="/books/NBK604392/table/niceng241er9.tab3/?report=objectonly" target="object" rid-ob="figobniceng241er9tab3">Table 3</a></h4><p class="float-caption no_bottom_margin">Economic evidence profile for <i>BRCA1/BRCA2</i> genetic testing in women with breast or ovarian cancer with carrier risks ranging from 5% to 40% (the impact on eligible first- and second-degree relatives included only as part of sensitivity analyses). </p></div></div><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er9tab4"><a href="/books/NBK604392/table/niceng241er9.tab4/?report=objectonly" target="object" title="Table 4" class="img_link icnblk_img" rid-ob="figobniceng241er9tab4"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er9.tab4"><a href="/books/NBK604392/table/niceng241er9.tab4/?report=objectonly" target="object" rid-ob="figobniceng241er9tab4">Table 4</a></h4><p class="float-caption no_bottom_margin">Economic evidence profiles for genetic testing in women with ovarian cancer or breast cancer versus no genetic testing or family history/clinical criteria for genetic testing and including the impact on eligible first- and second-degree relatives (note: <a href="/books/NBK604392/table/niceng241er9.tab4/?report=objectonly" target="object" rid-ob="figobniceng241er9tab4">(more...)</a></p></div></div></div><div id="niceng241er9.s1.1.9"><h4>Economic model</h4><p>No economic modelling was undertaken for this review because the committee agreed that other topics were higher priorities for economic evaluation.</p></div><div id="niceng241er9.s1.1.10"><h4>Evidence statements</h4><div id="niceng241er9.s1.1.10.1"><h5>Economic</h5><p><i>Women with breast or ovarian cancer with carrier risks ranging from 5% to 40% (the impact on eligible first- and second-degree relatives included only as part of sensitivity analyses)</i>
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<ul><li class="half_rhythm"><div>Evidence from a cost-utility analysis, based on modelling (<a class="bibr" href="#niceng241er9.ref8" rid="niceng241er9.ref8">NICE CG164 2013</a>), suggests that <i>BRCA1/BRCA2</i> genetic testing is likely to be cost-effective compared with no genetic testing for women affected with ovarian or breast cancer (considering only costs and QALYs for index people) aged 40-49, with carrier risks of 5% to 40% in the UK. However, for women aged 50-69 and 70+ genetic testing is unlikely to be cost-effective for carrier risks ranging from 5% to 40%. This analysis is directly applicable to the NICE decision-making context and has potentially serious limitations.</div></li><li class="half_rhythm"><div>Evidence from a cost-utility analysis, based on modelling (<a class="bibr" href="#niceng241er9.ref8" rid="niceng241er9.ref8">NICE CG164 2013</a>), suggests that <i>BRCA1/BRCA2</i> genetic testing is likely to be cost-effective compared with no genetic testing for women with ovarian or breast cancer (considering costs and QALYs for index people and all eligible relatives) aged 40-49, with carrier risks of 5% to 40% in the UK. Genetic testing is likely to be cost-effective for women aged 50-59 with carrier risks of 10% to 40%, except for those with a 5% carrier risk where it is borderline cost effective (ICER is £19-21k/QALY). For women aged 60-69 genetic testing is likely to be cost-effective for carrier risks of 20% to 40%, borderline cost-effective for a 15% carrier risk (ICER £18-21k/QALY) and unlikely to be cost-effective for carrier risks 5% to 10%. In women aged 70+ genetic testing is likely to be cost-effective for 30% to 40% carrier risks, borderline cost-effective for a 20% carrier risk (ICER of £19-24k/QALY) and unlikely to be cost effective for carrier risks 5% to 15%. This analysis is directly applicable to the NICE decision-making context and has potentially serious limitations.</div></li></ul></p><p><i>Women with ovarian or breast cancer and their eligible first- and second-degree relatives</i>
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<ul><li class="half_rhythm"><div>Evidence from a cost-utility analysis based on modelling (<a class="bibr" href="#niceng241er9.ref9" rid="niceng241er9.ref9">Manchanda 2024</a>, in publication) suggests that <i>BRCA1/BRCA2/RAD51C/RAD51D/BRIP1</i> genetic testing (plus <i>BRCA1/BRCA2</i> somatic testing for ovarian cancer patients) is unlikely to be cost-effective compared with no genetic testing in women with ovarian cancer and their eligible relatives in the UK when including treatment with PARP-i. However, when treatment with PARP-i is excluded genetic testing becomes cost-effective. The study is directly applicable to the NICE decision-making context and has minor limitations.</div></li><li class="half_rhythm"><div>Evidence from a cost-utility analysis based on modelling (<a class="bibr" href="#niceng241er9.ref5" rid="niceng241er9.ref5">Eccleston 2017</a>) suggests that <i>BRCA1/BRCA2</i> genetic testing is likely to be cost-effective compared with no genetic testing in women with ovarian cancer and their eligible relatives in the UK. The study is directly applicable to the NICE decision-making context and has minor limitations.</div></li><li class="half_rhythm"><div>Evidence from a cost-utility analysis based on modelling (<a class="bibr" href="#niceng241er9.ref7" rid="niceng241er9.ref7">Hurry 2020</a>) suggests that <i>BRCA1/BRCA2</i> genetic testing is likely to be cost-effective compared with no genetic testing in women with ovarian or breast cancer and their eligible relatives in Canada. The study is partially applicable to the NICE decision-making context and has minor limitations.</div></li><li class="half_rhythm"><div>Evidence from a cost-utility analysis based on modelling (<a class="bibr" href="#niceng241er9.ref6" rid="niceng241er9.ref6">Moya-Alarcón 2019</a>) suggests that <i>BRCA1/BRCA2</i> genetic testing, compared with no genetic testing, is unlikely to be cost-effective in women with ovarian cancer and their eligible relatives in Spain, since it exceed exceeds NICE’s upper cost-effectiveness threshold of £30,000 per QALY. The study is partially applicable to the NICE decision-making context and has potentially serious limitations.</div></li></ul></p></div></div><div id="niceng241er9.s1.1.11"><h4>The committee’s discussion and interpretation of the evidence</h4><div id="niceng241er9.s1.1.11.1"><h5>The outcomes that matter most</h5><p>Incidence of other (non-ovarian) cancers was a critical outcome because pathogenic variants associated with ovarian cancer are often associated with other types of cancer. Identifying pathogenic variants has the potential to reduce the incidence of these other cancers through risk reducing treatments, but this will also depend on the rate of uptake of these treatments. The number of people carrying pathogenic variants (prevalence) was also a critical outcome, because this informs the choice of testing strategy, such as testing all women with ovarian cancer or testing particular high-risk subgroups.</p></div><div id="niceng241er9.s1.1.11.2"><h5>The quality of the evidence</h5><p>The quality of the evidence was assessed using GRADE and ranged from very low to high quality. Evidence quality was downgraded predominantly because of inconsistency and imprecision. One of the included systematic reviews was considered at serious risk of bias because it did not address heterogeneity or the impact of risk of bias on its results.</p><p>Evidence was lacking for outcomes of other (non-ovarian) cancer incidence and rates of uptake of risk reducing treatments. Due to the gaps in the clinical evidence and the issues with evidence quality, the committee also drew on their experience when drafting the recommendations.</p></div><div id="niceng241er9.s1.1.11.3"><h5>Benefits and harms</h5><p>The committee, based on the clinical and health economic evidence, agreed to recommend pre-test counselling and genetic testing to any woman diagnosed with invasive epithelial ovarian cancer. In the context of genomic testing, this means pre-test counselling, consent and genetic testing being undertaken at the point-of-care by a member of the gynaecological oncology multidisciplinary team rather than genetics services (mainstreaming). They agreed that detection of pathological variants could benefit the woman through risk reducing treatment and may directly inform her care, for example poly-ADP ribose polymerase (PARP) inhibitors for those with <i>BRCA</i> mutations. There are also benefits for the woman’s relatives who have the option of risk reducing treatment if they are also found to carry the pathogenic variant.</p><p>The committee also discussed various carrier probability thresholds but decided against recommending any particular threshold and took a pragmatic view that the overall prevalence of pathogenic variants was high enough to justify testing for any woman diagnosed with any invasive epithelial ovarian cancer.</p><p>The committee, based on expertise, decided to recommend pre-test counselling and genetic testing in specific subtypes of tumours seen in ovarian-cancer related syndromes such as ovarian Sertoli-Leydig cell tumour, small cell carcinoma of the ovary hypercalcaemic type, ovarian sex cord stromal tumour with annular tubules, embryonal rhabdomyosarcoma of the ovary and ovarian gynandroblastoma. These are associated with pathogenic variants that increase the risk of ovarian cancer. They noted that these ovarian cancer histotypes are rare and that genetic counselling and genetic testing would help identify these pathogenic variants whilst not adding significant costs. The committee noted that people with such non-epithelial ovarian cancer would usually be referred by gynaecology oncology MDT if no previous mainstream genetic testing has been taken place.</p></div><div id="niceng241er9.s1.1.11.4"><h5>Referral criteria</h5><p>Based on discussions of genetic testing of people with invasive epithelial ovarian cancer, the committee made a referral recommendation with a list of criteria for genetic counselling and genetic testing that healthcare professionals in primary care and secondary care can apply. These criteria include anyone who has a diagnosis of ovarian cancer as outlined in above (invasive epithelial ovarian cancer or the specific subtypes of tumours seen in ovarian-cancer related syndromes) and have not already had mainstream genetic testing. Mainstream genetic testing refers to pre-test counselling, consent and genetic testing being undertaken at the point of care by a member of the gynaecological oncology multidisciplinary team rather than genetics services.</p></div><div id="niceng241er9.s1.1.11.5"><h5>Cost effectiveness and resource use</h5><p>There were five existing economic studies on the cost-effectiveness of <i>BRCA</i> genetic testing in women with breast or ovarian cancer.</p><p>Only one economic analysis explicitly assessed the cost-effectiveness of offering genetic testing at various carrier risks. All other studies compared offering genetic testing with no genetic testing or using family history/clinical criteria for genetic testing in people with ovarian or breast cancer, without explicitly mentioning what the carrier risk was. However, the committee was able to approximate carrier risks from the population descriptions provided in these studies.</p><p>The committee discussed the economic analysis that was undertaken for the NICE Familial Breast Cancer Guideline CG164 (2013). This analysis was directly applicable to the NICE decision-making context and had potentially serious methodological limitations. The committee noted that the analysis is outdated. It was also highlighted that some cancer incidence data was based on assumptions. The committee discussed that there is more recent effectiveness and cost data. The committee acknowledged the findings and found it encouraging that overall, the cost-effectiveness of offering genetic testing to women with ovarian or breast cancer was within NICE cost-effectiveness threshold values. Particularly so when considering the costs and outcomes to eligible first- and second-degree relatives.</p><p>The committee acknowledged another UK study which found that <i>BRCA</i> genetic testing for women with epithelial ovarian cancer, the subsequent testing and management of their first and second-degree relatives, if the index patient or first-degree relative were positive, was cost-effective. In this study the incremental cost-effectiveness ratio was well below the lower NICE cost-effectiveness threshold. Also, the probability of genetic testing being cost effective was approaching 100% at £20,000 per QALY threshold. This evidence was directly applicable to the NICE decision-making context and only had minor methodological limitations.</p><p>The committee also discussed another UK study which found that offering genetic testing to women with ovarian cancer was not cost-effective. This study was directly applicable to the NICE decision-making context and had only minor methodological limitations. The committee discussed that in this study genetic testing also included somatic <i>BRCA</i> testing of all ovarian cancer patients (not necessarily how genetic testing would be done in clinical practice). Also, currently only <i>BRCA</i> testing is undertaken in people with ovarian cancer diagnosis. This analysis, however, did include a panel of genes.</p><p>The committee also discussed that the inclusion of PARP inhibitors was the main driver of the results. They have also noted that if genetic testing is not offered to women with ovarian or breast cancer then more PARP inhibitors will need to be given in future, due to people being identified late with more advanced stage ovarian cancers. This would result in even greater pressure on the NHS.</p><p>The committee also noted that there is uncertainty in some model inputs. For example, the impact of PARP inhibitors on overall survival. As a result, the committee was more inclined to use the results of the analysis which excluded PARP inhibitors and found that genetic testing was cost-effective in women with ovarian cancer.</p><p>The committee also acknowledged evidence from Canada which found that <i>BRCA</i> testing for people with ovarian or breast cancer and the subsequent testing and management of their first and second-degree relatives if the index patient or first-degree relative were positive was potentially cost-effective. The committee noted that this evidence was only partially applicable to the NICE decision making.</p><p>The committee acknowledged the Spanish study which suggested that <i>BRCA</i> testing for women with ovarian cancer and their eligible relatives might not be cost-effective, since it exceeds NICE’s upper cost-effectiveness threshold of £30,000 per QALY. However, this study’s partial applicability to NICE’s decision-making context, together with potential serious methodological limitations (such as non-discounted QALYs, unclear data sources and lack of sensitivity analyses), limited the committee’s ability to draw firm conclusions from this study.</p><p>The committee noted that offering genetic testing to people with invasive epithelial ovarian cancers aligns with current practice and that the economic evidence supports this approach. Moreover, genetic counselling is an integral component of genetic testing for pathogenic variants and the implementation of this recommendation will not require additional resources. Also, in their evaluations of the cost-effectiveness of genetic testing, all included economic studies considered genetic counselling as part of the strategy under evaluation.</p><p>The committee discussed that genetic testing for women diagnosed with rarer non-epithelial ovarian cancers may be less cost effective. However, the committee explained that there will be very few women with these other rarer cancers and decided to recommend genetic testing and counselling in these women too.</p><p>The committee acknowledged that most of the economic evidence relates to <i>BRCA</i> genetic testing. However, implementing the recommendation in this area will mean testing for other genes included in the panel as well. The committee explained that <i>BRCA</i> genes are the most prevalent and determine the cost-effectiveness of genetic testing. Even though panel testing costs may be higher, the overall costs of genetic testing have substantially decreased over time. This suggests that the costs used for <i>BRCA</i> genetic testing in the included older economic analyses may be comparable to those of panel testing. Consequently, the reported cost-effectiveness will likely be improved since additional pathogenic variants would be identified for similar testing costs.</p></div></div><div id="niceng241er9.s1.1.12"><h4>Recommendations supported by this evidence review</h4><p>This evidence review supports recommendations 1.3.1 and 1.4.5 in the NICE guideline.</p></div></div><div id="niceng241er9.rl.r1"><h3>References – included studies</h3><ul class="simple-list"><div id="niceng241er9.rl.r1.1"><h4>Effectiveness</h4><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref1"><p id="p-238">
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<strong>Arts-de Jong 2016</strong>
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</p>Arts-de Jong, M, de Bock, GH, van Asperen, CJ
|
|
et al. (2016) Germline BRCA1/2 mutation testing is indicated in every patient with epithelial ovarian cancer: A systematic review. European Journal of Cancer
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61:137–45
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[<a href="https://pubmed.ncbi.nlm.nih.gov/27209246" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27209246</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref2"><p id="p-239">
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<strong>Atwal 2022</strong>
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</p>Atwal, A, Snowsill, T, Dandy, MC
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et al. (2022) The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis. International Journal of Cancer
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151(9):1626–1639
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[<a href="/pmc/articles/PMC9539584/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9539584</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35792468" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35792468</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref3"><p id="p-240">
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<strong>Chandrasekaran 2021</strong>
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</p>Chandrasekaran, D, Sobocan, M, Blyuss, O
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et al. (2021) Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study. Cancers
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13(17):4344
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[<a href="/pmc/articles/PMC8431198/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8431198</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34503154" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34503154</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref4"><p id="p-241">
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<strong>Witjes 2021</strong>
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</p>Witjes, VM, van Bommel, MHD, Ligtenberg, MJL
|
|
et al. (2021) Probability of detecting germline BRCA1/2 pathogenic variants in histological subtypes of ovarian carcinoma. A meta-analysis. Gynecologic Oncology
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164(1):221–230
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[<a href="https://pubmed.ncbi.nlm.nih.gov/34702566" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34702566</span></a>]</div></p></li></ul></div><div id="niceng241er9.rl.r1.2"><h4>Economic</h4><ul class="simple-list"><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref5"><p id="p-242">
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<strong>Eccleston 2017</strong>
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</p>Eccleston, A., Bentley, A., Dyer, M., Strydom, A., Vereecken, W., George, A., et al., A cost-effectiveness evaluation of germline BRCA1 and BRCA2 testing in UK women with ovarian cancer, Value in Health, 20, 567–76, 2017
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[<a href="/pmc/articles/PMC5406158/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5406158</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/28407998" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 28407998</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref6"><p id="p-243">
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<strong>Moya-Alarcón 2019</strong>
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</p>Moya-Alarcón, C., González-Domínguez, A., Simon, S., Pérez-Román, I., González-Martín, A., Bayo-Lozano, E., et al., Cost–utility analysis of germline BRCA1/2 testing in women with high-grade epithelial ovarian cancer in Spain, Clinical and Translational Oncology, 21,1076–84, 2019
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[<a href="https://pubmed.ncbi.nlm.nih.gov/30617925" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30617925</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref7"><p id="p-244">
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<strong>Hurry 2020</strong>
|
|
</p>Hurry, M., Eccleston, A., Dyer, M., Hoskins, P., Canadian cost-effectiveness model of BRCA-driven surgical prevention of breast/ovarian cancers compared to treatment if cancer develops, International journal of technology assessment in health care, 36,104–12, 2020
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[<a href="https://pubmed.ncbi.nlm.nih.gov/32423520" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32423520</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref8"><p id="p-245">
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<strong>NICE 2013</strong>
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</p>NICE
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2013, Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer CG164, Last updated: 2019 [<a href="https://pubmed.ncbi.nlm.nih.gov/31940157" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31940157</span></a>]</div></p></li><li class="half_rhythm"><p><div class="bk_ref" id="niceng241er9.ref9"><p id="p-246">
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<strong>Manchanda 2024 - in publication</strong>
|
|
</p>Manchanda, R., Sun, L., Sobocan, M., Rodriguez, I.V., Wei, X., Kalra, A., Oxley, S., et al., Cost-effectiveness of unselected multigene germline and somatic genetic testing for epithelial ovarian cancer, in publication [<a href="https://pubmed.ncbi.nlm.nih.gov/38866043" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 38866043</span></a>]</div></p></li></ul></div></ul></div></div><div id="appendixesappgroup1"><h2 id="_appendixesappgroup1_">Appendices</h2><div id="niceng241er9.appa"><h3>Appendix A. Review protocols</h3><p id="niceng241er9.appa.et1"><a href="/books/NBK604392/bin/niceng241er9-appa-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Review protocol for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</a><span class="small"> (PDF, 209K)</span></p></div><div id="niceng241er9.appb"><h3>Appendix B. Literature search strategies</h3><p id="niceng241er9.appb.et1"><a href="/books/NBK604392/bin/niceng241er9-appb-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Literature search strategies for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</a><span class="small"> (PDF, 154K)</span></p></div><div id="niceng241er9.appc"><h3>Appendix C. Effectiveness evidence study selection</h3><p id="niceng241er9.appc.et1"><a href="/books/NBK604392/bin/niceng241er9-appc-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Study selection for: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</a><span class="small"> (PDF, 178K)</span></p></div><div id="niceng241er9.appd"><h3>Appendix D. Evidence tables</h3><p id="niceng241er9.appd.et1"><a href="/books/NBK604392/bin/niceng241er9-appd-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Evidence tables for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</a><span class="small"> (PDF, 283K)</span></p></div><div id="niceng241er9.appe"><h3>Appendix E. Forest plots</h3><div id="niceng241er9.appe.s1"><h4>Forest plots for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</h4><p>No meta-analysis was conducted for this review question and so there are no forest plots.</p></div></div><div id="niceng241er9.appf"><h3>Appendix F. Modified GRADE tables</h3><p id="niceng241er9.appf.et1"><a href="/books/NBK604392/bin/niceng241er9-appf-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">GRADE tables for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</a><span class="small"> (PDF, 249K)</span></p></div><div id="niceng241er9.appg"><h3>Appendix G. Economic evidence study selection</h3><div id="niceng241er9.appg.s1"><h4>Study selection for: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</h4><p>One global search was undertaken – please see <a href="/books/NBK604392/bin/NG241-Supplement2-Economic-Literature-pdf.pdf">Supplement 2</a> for details on study selection.</p></div></div><div id="niceng241er9.apph"><h3>Appendix H. Economic evidence tables</h3><p id="niceng241er9.apph.et1"><a href="/books/NBK604392/bin/niceng241er9-apph-et1.pdf" class="bk_dwnld_icn bk_dwnld_pdf">Economic evidence tables for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</a><span class="small"> (PDF, 265K)</span></p></div><div id="niceng241er9.appi"><h3>Appendix I. Economic model</h3><div id="niceng241er9.appi.s1"><h4>Economic model for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</h4><p>No economic analysis was conducted for this review question.</p></div></div><div id="niceng241er9.appj"><h3>Appendix J. Excluded studies</h3><div id="niceng241er9.appj.s1"><h4>Excluded studies for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</h4><div id="niceng241er9.appj.s1.1"><h5>Excluded effectiveness studies</h5><div class="iconblock whole_rhythm clearfix ten_col table-wrap" id="figniceng241er9appjtab1"><a href="/books/NBK604392/table/niceng241er9.appj.tab1/?report=objectonly" target="object" title="Table 12" class="img_link icnblk_img" rid-ob="figobniceng241er9appjtab1"><img class="small-thumb" src="/corehtml/pmc/css/bookshelf/2.26/img/table-icon.gif" alt="Table Icon" /></a><div class="icnblk_cntnt"><h4 id="niceng241er9.appj.tab1"><a href="/books/NBK604392/table/niceng241er9.appj.tab1/?report=objectonly" target="object" rid-ob="figobniceng241er9appjtab1">Table 12</a></h4><p class="float-caption no_bottom_margin">Excluded studies and reasons for their exclusion. </p></div></div></div><div id="niceng241er9.appj.s1.2"><h5>Excluded economic studies</h5><p>See <a href="/books/NBK604392/bin/NG241-Supplement2-Economic-Literature-pdf.pdf">Supplement 2</a> for the list of excluded studies across all reviews.</p></div></div></div><div id="niceng241er9.appk"><h3>Appendix K. Research recommendations</h3><div id="niceng241er9.appk.s1"><h4>Research recommendations for review question: At what carrier probability should women with ovarian cancer (with or without breast cancer) be offered genetic testing?</h4><p>No research recommendations were made for this review question.</p></div></div></div></div><div class="fm-sec"><div><p>Final</p></div><div><p>Evidence reviews underpinning recommendations 1.3.1 and 1.4.6 in the NICE guideline</p><p>These evidence reviews were developed by NICE</p></div><div><p><b>Disclaimer</b>: The recommendations in this guideline represent the view of NICE, arrived at after careful consideration of the evidence available. When exercising their judgement, professionals are expected to take this guideline fully into account, alongside the individual needs, preferences and values of their patients or service users. The recommendations in this guideline are not mandatory and the guideline does not override the responsibility of healthcare professionals to make decisions appropriate to the circumstances of the individual patient, in consultation with the patient and/or their carer or guardian.</p><p>Local commissioners and/or providers have a responsibility to enable the guideline to be applied when individual health professionals and their patients or service users wish to use it. They should do so in the context of local and national priorities for funding and developing services, and in light of their duties to have due regard to the need to eliminate unlawful discrimination, to advance equality of opportunity and to reduce health inequalities. Nothing in this guideline should be interpreted in a way that would be inconsistent with compliance with those duties.</p><p>NICE guidelines cover health and care in England. Decisions on how they apply in other UK countries are made by ministers in the <a href="http://wales.gov.uk/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Welsh Government</a>, <a href="http://www.scotland.gov.uk/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Scottish Government</a>, and <a href="http://www.northernireland.gov.uk/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Northern Ireland Executive</a>. All NICE guidance is subject to regular review and may be updated or withdrawn.</p></div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright</a> © NICE 2024.</div><div class="small"><span class="label">Bookshelf ID: NBK604392</span><span class="label">PMID: <a href="https://pubmed.ncbi.nlm.nih.gov/38900919" title="PubMed record of this title" ref="pagearea=meta&targetsite=entrez&targetcat=link&targettype=pubmed">38900919</a></span></div></div><div class="small-screen-prev"></div><div class="small-screen-next"></div></article><article data-type="table-wrap" id="figobniceng241er9tab1"><div id="niceng241er9.tab1" class="table"><h3><span class="label">Table 1</span><span class="title">Summary of the protocol (PICO table)</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604392/table/niceng241er9.tab1/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er9.tab1_lrgtbl__"><table><tbody><tr><th id="hd_b_niceng241er9.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Population</th><td headers="hd_b_niceng241er9.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Women with ovarian cancer</td></tr><tr><th id="hd_b_niceng241er9.tab1_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Intervention</th><td headers="hd_b_niceng241er9.tab1_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Germline pathogenic variant analysis</td></tr><tr><th id="hd_b_niceng241er9.tab1_1_1_3_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Comparator</th><td headers="hd_b_niceng241er9.tab1_1_1_3_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">No germline pathogenic variant analysis</td></tr><tr><th id="hd_b_niceng241er9.tab1_1_1_4_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Outcomes</th><td headers="hd_b_niceng241er9.tab1_1_1_4_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;"><p><b>Critical</b></p>
|
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<ul><li class="half_rhythm"><div>Any other (non-ovarian) cancer incidence</div></li><li class="half_rhythm"><div>Number of people carrying pathogenic variants</div></li><li class="half_rhythm"><div>Rates of uptake of risk reducing treatments:
|
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<ul class="circle"><li class="half_rhythm"><div>Chemoprevention</div></li><li class="half_rhythm"><div>Surgery</div></li><li class="half_rhythm"><div>Surveillance</div></li></ul></div></li></ul>
|
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<p><b>Important</b></p>
|
|
<ul><li class="half_rhythm"><div>None</div></li></ul>
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</td></tr></tbody></table></div></div></article><article data-type="table-wrap" id="figobniceng241er9tab2"><div id="niceng241er9.tab2" class="table"><h3><span class="label">Table 2</span><span class="title">Summary of included studies</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604392/table/niceng241er9.tab2/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er9.tab2_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_niceng241er9.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Study</th><th id="hd_h_niceng241er9.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Population</th><th id="hd_h_niceng241er9.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Intervention</th><th id="hd_h_niceng241er9.tab2_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Comparison</th><th id="hd_h_niceng241er9.tab2_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Outcomes</th></tr></thead><tbody><tr><td headers="hd_h_niceng241er9.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<p>
|
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<a class="bibr" href="#niceng241er9.ref1" rid="niceng241er9.ref1">Arts-De Jong 2016</a>
|
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</p>
|
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<p>Systematic review</p>
|
|
<p>International</p>
|
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</td><td headers="hd_h_niceng241er9.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<p>N=6218 women with all types of epithelial ovarian, fallopian tube or peritoneal cancer</p>
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<p>N=11 studies (including only published studies from January 2000, no upper limit reported)<sup>*</sup></p>
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<p>Age, mean (SD): NR</p>
|
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</td><td headers="hd_h_niceng241er9.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Germline testing for PVs in <i>BRCA1/2</i></td><td headers="hd_h_niceng241er9.tab2_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Prevalence of PVs according to:
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<ul><li class="half_rhythm"><div>Age at onset of OC</div></li><li class="half_rhythm"><div>Family and personal history of cancer</div></li><li class="half_rhythm"><div>Histological type of OC</div></li></ul>
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</td><td headers="hd_h_niceng241er9.tab2_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<ul><li class="half_rhythm"><div>Number of people carrying pathogenic variants</div></li></ul>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<p>
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<a class="bibr" href="#niceng241er9.ref2" rid="niceng241er9.ref2">Atwal 2022</a>
|
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</p>
|
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<p>Systematic review</p>
|
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<p>International</p>
|
|
</td><td headers="hd_h_niceng241er9.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=10826 women from unselected and selected ovarian cancer populations (>18 years old)</p>
|
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<p>N=21 studies</p>
|
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<p>Age, mean (SD, years): 52 (not reported)</p>
|
|
</td><td headers="hd_h_niceng241er9.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Germline testing for PVs in <i>MMR</i> genes</td><td headers="hd_h_niceng241er9.tab2_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Prevalence of PVs according to:
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<ul><li class="half_rhythm"><div>Unselected cases of OC</div></li><li class="half_rhythm"><div>Selected cases of OC</div></li><li class="half_rhythm"><div>Family history</div></li></ul>
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</td><td headers="hd_h_niceng241er9.tab2_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<ul><li class="half_rhythm"><div>Number of people carrying pathogenic variants</div></li></ul>
|
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</td></tr><tr><td headers="hd_h_niceng241er9.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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<p>
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<a class="bibr" href="#niceng241er9.ref3" rid="niceng241er9.ref3">Chandrasekaran 2021</a>
|
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</p>
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<p>Cross-sectional study</p>
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<p>UK</p>
|
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</td><td headers="hd_h_niceng241er9.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<p>N=303 women with high-grade non-mucinous epithelial ovarian cancer, who were newly diagnosed or under follow-up in the Northeast London Cancer Network</p>
|
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<p>Age, mean (SD; years): NR, but median (range): 61 (51-71) in no germline pathogenic variants group; 54 (51-62) in germline pathogenic variants group</p>
|
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</td><td headers="hd_h_niceng241er9.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Germline testing for PVs in <i>BRCA1/2,</i>
|
|
<i>RAD51C,</i>
|
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<i>RAD51D, and</i>
|
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<i>BRIP1</i></td><td headers="hd_h_niceng241er9.tab2_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Prevalence of PVs according to:
|
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<ul><li class="half_rhythm"><div>overall</div></li><li class="half_rhythm"><div>with and without a family history</div></li><li class="half_rhythm"><div>high-grade</div></li><li class="half_rhythm"><div>stage</div></li></ul>
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</td><td headers="hd_h_niceng241er9.tab2_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Number of people carrying pathogenic variants</div></li></ul>
|
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</td></tr><tr><td headers="hd_h_niceng241er9.tab2_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<p>Witjes 2022</p>
|
|
<p>Systematic review</p>
|
|
<p>International</p>
|
|
</td><td headers="hd_h_niceng241er9.tab2_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>N=11351 women with ovarian cancer</p>
|
|
<p>N=28 studies (including only studies published between January 2015 and November 2020)<sup>*</sup></p>
|
|
<p>Age, mean (SD): NR</p>
|
|
</td><td headers="hd_h_niceng241er9.tab2_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Germline testing for PVs in <i>BRCA1/2,</i>
|
|
<i>BRIP1,</i>
|
|
<i>RAD51C,</i>
|
|
<i>RAD51D,</i>
|
|
<i>PALB2, ATM,</i>
|
|
<i>MLH1, MSH2,</i>
|
|
<i>MSH6, and</i>
|
|
<i>PMS2</i></div></li></ul>
|
|
</td><td headers="hd_h_niceng241er9.tab2_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Prevalence of PVs according to histological type of OC:
|
|
<ul><li class="half_rhythm"><div>high grade serous</div></li><li class="half_rhythm"><div>carcinosarcoma</div></li><li class="half_rhythm"><div>endometrioid</div></li><li class="half_rhythm"><div>low-grade serous</div></li><li class="half_rhythm"><div>clear cell</div></li><li class="half_rhythm"><div>mucinous</div></li><li class="half_rhythm"><div>other</div></li></ul>
|
|
</td><td headers="hd_h_niceng241er9.tab2_1_1_1_5" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<ul><li class="half_rhythm"><div>Number of people carrying pathogenic variants</div></li></ul>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">MMR: mismatch repair N: Number; NR: not reported; OC: ovarian cancer; PV: pathological variant; SD: standard deviation</p></div></dd></dl><dl class="bkr_refwrap"><dt>*</dt><dd><div id="niceng241er9.tab2_1"><p class="no_margin">There is no overlap between <a class="bibr" href="#niceng241er9.ref1" rid="niceng241er9.ref1">Arts-de Jong 2016</a> and Witjes 2022 systematic reviews</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobniceng241er9tab3"><div id="niceng241er9.tab3" class="table"><h3><span class="label">Table 3</span><span class="title">Economic evidence profile for <i>BRCA1/BRCA2</i> genetic testing in women with breast or ovarian cancer with carrier risks ranging from 5% to 40% (the impact on eligible first- and second-degree relatives included only as part of sensitivity analyses)</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604392/table/niceng241er9.tab3/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er9.tab3_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_niceng241er9.tab3_1_1_1_1" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab3_1_1_1_1" style="text-align:left;vertical-align:bottom;">Study</th><th id="hd_h_niceng241er9.tab3_1_1_1_2" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab3_1_1_1_2" style="text-align:left;vertical-align:bottom;">Limitations</th><th id="hd_h_niceng241er9.tab3_1_1_1_3" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab3_1_1_1_3" style="text-align:left;vertical-align:bottom;">Applicability</th><th id="hd_h_niceng241er9.tab3_1_1_1_4" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab3_1_1_1_4" style="text-align:left;vertical-align:bottom;">Other comments</th><th id="hd_h_niceng241er9.tab3_1_1_1_5" colspan="3" rowspan="1" style="text-align:left;vertical-align:bottom;">Incremental</th><th id="hd_h_niceng241er9.tab3_1_1_1_6" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab3_1_1_1_6" style="text-align:left;vertical-align:bottom;">Uncertainty</th></tr><tr><th headers="hd_h_niceng241er9.tab3_1_1_1_5" id="hd_h_niceng241er9.tab3_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:bottom;">Costs</th><th headers="hd_h_niceng241er9.tab3_1_1_1_5" id="hd_h_niceng241er9.tab3_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:bottom;">QALYs</th><th headers="hd_h_niceng241er9.tab3_1_1_1_5" id="hd_h_niceng241er9.tab3_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Cost effectiveness (Cost/QALY)</th></tr></thead><tbody><tr><td headers="hd_h_niceng241er9.tab3_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er9.ref8" rid="niceng241er9.ref8">NICE (CG164) 2013</a>
|
|
</p>
|
|
<p>UK</p>
|
|
<p>Cost-utility analysis</p>
|
|
</td><td headers="hd_h_niceng241er9.tab3_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Potentially serious <sup>[1]</sup></td><td headers="hd_h_niceng241er9.tab3_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Directly <sup>[2]</sup></td><td headers="hd_h_niceng241er9.tab3_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;"><p>Modelling study (Decision tree and Markov)</p><p>Time horizon: 50 years Outcome: QALYs Comments:
|
|
<dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Base-case analysis includes index population only.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Sensitivity analysis considers costs and outcomes to eligible first- and second-degree relatives.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">The analysis stratified the results by age.</p></dd></dl></dl></p>
|
|
</td><td headers="hd_h_niceng241er9.tab3_1_1_1_5 hd_h_niceng241er9.tab3_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Range for carrier risks of 5% to 40%:</p>
|
|
<p>40-49 years</p>
|
|
<p>£997 to £1,373</p>
|
|
<p>50-59 years</p>
|
|
<p>£1,046 to £1,469</p>
|
|
<p>60-69 years</p>
|
|
<p>£1,105 to £1,547</p>
|
|
<p>70+ years</p>
|
|
<p>£1,152 to £1,569</p>
|
|
</td><td headers="hd_h_niceng241er9.tab3_1_1_1_5 hd_h_niceng241er9.tab3_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Range for carrier risks of 5% to 40%:</p>
|
|
<p>40-49 years</p>
|
|
<p>0.0519 to 0.0780</p>
|
|
<p>50-59 years</p>
|
|
<p>0.0400 to 0.0546</p>
|
|
<p>60-69 years</p>
|
|
<p>0.0262 to 0.0346</p>
|
|
<p>70+ years</p>
|
|
<p>0.0138 to 0.0180</p>
|
|
</td><td headers="hd_h_niceng241er9.tab3_1_1_1_5 hd_h_niceng241er9.tab3_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>40-49 years</p>
|
|
<p>ICERs < £20k/QALY for 5-40% carrier risks</p>
|
|
<p>50-59 years</p>
|
|
<p>ICERs > £20k but < £30k/QALY for 5-40% carrier risks</p>
|
|
<p>60-69 years</p>
|
|
<p>At all carrier risks ICERs > £40k/QALY</p>
|
|
<p>70+ years</p>
|
|
<p>At all carrier risks ICERs > £80k/QALY</p>
|
|
</td><td headers="hd_h_niceng241er9.tab3_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;"><p>Probabilities of being cost-effective at £20k/QALY threshold:
|
|
<dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">40-49 years - 0.501 and 0.594 for carrier probabilities of 5% and 40%, respectively</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">50-59 years - 0.311 and 0.262 for carrier probabilities of 5% and 40%, respectively</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">60-69 years - 0.076 and 0.043 for carrier probabilities of 5% and 40%, respectively</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">70+ years - 0.006 and 0.000 for carrier probabilities of 5% and 40%, respectively</p></dd></dl></dl></p>
|
|
<p>Including costs and QALYs to eligible first- and second-degree relatives:
|
|
<dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">40-49 years – results the same</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">50-59 years – carrier risks 10-40% ICERs < £20k/QALY, at 5% carrier risk the ICER was £19-21k/QALY</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">60-69 years – not costeffective at 5-10% carrier risks (ICERs > £30k/QALY), at 15% ICER £18- 21k/QALY, and 20-40% cost-effective with ICERs < £20k/QALY</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">70+ years – not cost effective at 5-15% carrier risks (ICERs > £30k/QALY), at 20% the ICER of £19-24/QALY, and at 30-40% cost effective (ICERs < £20k/QALY).</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">The results were robust to changes in single parameter values including, genetic testing costs, palliative care cost, utilities associated with breast and ovarian cancer, decrement associated with genetic testing, and percent of eligible people who choose not to undergo genetic testing.</p></dd></dl></dl></p>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Abbreviations: CG: Clinical guideline; ICER: Incremental cost-effectiveness ratio; k: Thousand; QALY: Quality-adjusted life-year; UK: United Kingdom</p></div></dd></dl><dl class="bkr_refwrap"><dt>[1]</dt><dd><div id="niceng241er9.tab3_1"><p class="no_margin">Due to the lack of data the same cancer incidence rates were assumed for some age groups and carrier risks</p></div></dd></dl><dl class="bkr_refwrap"><dt>[2]</dt><dd><div id="niceng241er9.tab3_2"><p class="no_margin">UK study; QALYs</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobniceng241er9tab4"><div id="niceng241er9.tab4" class="table"><h3><span class="label">Table 4</span><span class="title">Economic evidence profiles for genetic testing in women with ovarian cancer or breast cancer versus no genetic testing or family history/clinical criteria for genetic testing and including the impact on eligible first- and second-degree relatives (note: academic-in-confidence redaction for unpublished data related to <a class="bibr" href="#niceng241er9.ref9" rid="niceng241er9.ref9">Manchanda 2024</a> [in publication])</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604392/table/niceng241er9.tab4/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er9.tab4_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_niceng241er9.tab4_1_1_1_1" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab4_1_1_1_1" style="text-align:left;vertical-align:bottom;">Study</th><th id="hd_h_niceng241er9.tab4_1_1_1_2" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab4_1_1_1_2" style="text-align:left;vertical-align:bottom;">Limitations</th><th id="hd_h_niceng241er9.tab4_1_1_1_3" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab4_1_1_1_3" style="text-align:left;vertical-align:bottom;">Applicability</th><th id="hd_h_niceng241er9.tab4_1_1_1_4" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab4_1_1_1_4" style="text-align:left;vertical-align:bottom;">Other comments</th><th id="hd_h_niceng241er9.tab4_1_1_1_5" colspan="3" rowspan="1" style="text-align:left;vertical-align:bottom;">Incremental</th><th id="hd_h_niceng241er9.tab4_1_1_1_6" rowspan="2" colspan="1" headers="hd_h_niceng241er9.tab4_1_1_1_6" style="text-align:left;vertical-align:bottom;">Uncertainty</th></tr><tr><th headers="hd_h_niceng241er9.tab4_1_1_1_5" id="hd_h_niceng241er9.tab4_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:bottom;">Costs <sup>[1]</sup></th><th headers="hd_h_niceng241er9.tab4_1_1_1_5" id="hd_h_niceng241er9.tab4_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:bottom;">QALYs</th><th headers="hd_h_niceng241er9.tab4_1_1_1_5" id="hd_h_niceng241er9.tab4_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:bottom;">Cost effectiveness (Cost/QALY)</th></tr></thead><tbody><tr><td headers="hd_h_niceng241er9.tab4_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p><a class="bibr" href="#niceng241er9.ref9" rid="niceng241er9.ref9">Manchanda 2024</a> (in publication)</p>
|
|
<p>UK</p>
|
|
<p>Cost-utility analysis</p>
|
|
</td><td headers="hd_h_niceng241er9.tab4_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Minor <sup>[2]</sup></td><td headers="hd_h_niceng241er9.tab4_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Directly <sup>[3]</sup></td><td headers="hd_h_niceng241er9.tab4_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;"><p>Modelling study (Patient-level simulation)</p><p>Genetic test:</p><p>BRCA1/BRCA2/RAD51C/RAD51D/BRIP1 and BRCA1/BRCA2 somatic testing for ovarian cancer patients</p><p>Time horizon: Lifetime time</p><p>Outcome: QALYs</p><p>Comment
|
|
<dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Includes PARP-i treatment for ovarian cancer and sensitivity analysis without PARP-i treatment</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Includes index population, and eligible first- and second-degree relatives</p></dd></dl></dl></p>
|
|
</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">▬▬▬▬▬</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">▬▬▬▬▬</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">▬▬▬▬▬</td><td headers="hd_h_niceng241er9.tab4_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Probability of being cost-effective was 18% at £30k/QALY threshold.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Panel germline testing (with PARP-i) was sensitive to both PARP-i cost and overall survival associated with PARP-i treatment.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Individual model inputs such as pathogenic variant prevalence, costs, utility scores, and transition probabilities had minimal impact on the cost-effectiveness of unselected panel-germline testing.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">In a scenario analysis where adherence to hormone replacement was varied, and a scenario which modelled parallel testing in ovarian cancer patients <70 years and sequential somatic testing followed by germline testing in patients >70 years the conclusions were unchanged.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Excluding PARP-i, panel germline testing resulted in ICERs of ▬▬ with 99% probability of being cost effective at £30k/QALY threshold.</p></dd></dl></dl>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.tab4_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er9.ref5" rid="niceng241er9.ref5">Eccleston 2017</a>
|
|
</p>
|
|
<p>UK</p>
|
|
<p>Cost-utility analysis</p>
|
|
</td><td headers="hd_h_niceng241er9.tab4_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Minor <sup>[4]</sup></td><td headers="hd_h_niceng241er9.tab4_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Directly <sup>[5]</sup></td><td headers="hd_h_niceng241er9.tab4_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Modelling study (Patient-level simulation)</p>
|
|
<p>Genetic test:</p>
|
|
<p>BRCA1/BRCA2</p>
|
|
<p>Time horizon: 50 years</p>
|
|
<p>Outcome: QALYs</p>
|
|
<p>Comment: Includes index population, N=7,284 people with ovarian cancer and their cancer-free family members (N=3,768 first-degree and N=935 second-degree eligible relatives)</p>
|
|
</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£3,061,420</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">706</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£5,282</td><td headers="hd_h_niceng241er9.tab4_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">The 95% CI for the ICER: £1,593–11,764.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Probability of being cost-effective: 99.9% at £20k/QALY threshold.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">The findings were robust and the ICER remained under £20k/QALY in all deterministic sensitivity analyses including probability of having a BRCA mutation, risk reducing surgery uptake rates and effectiveness, mean age of the index population, survival rates, number of genetic counselling sessions, and including a disutility for BRCA testing.</p></dd></dl></dl>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.tab4_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>
|
|
<a class="bibr" href="#niceng241er9.ref7" rid="niceng241er9.ref7">Hurry 2020</a>
|
|
</p>
|
|
<p>Canada</p>
|
|
<p>Cost-utility analysis</p>
|
|
</td><td headers="hd_h_niceng241er9.tab4_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Minor <sup>[6]</sup></td><td headers="hd_h_niceng241er9.tab4_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Partially <sup>[7]</sup></td><td headers="hd_h_niceng241er9.tab4_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Modelling study (Patient-level simulation)</p>
|
|
<p>Genetic test:</p>
|
|
<p>BRCA1/BRCA2</p>
|
|
<p>Time horizon: 50 years</p>
|
|
<p>Outcome: QALYs</p>
|
|
<p>Comment: Includes index population, N=2,786 people with EOC and N=26,316 with breast cancer and their cancer-free family members (N=6,136 first-degree relatives and N=1,052 second-degree relatives)</p>
|
|
</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£6,608k (for a cohort)</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">788 (for a cohort)</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£8,384</td><td headers="hd_h_niceng241er9.tab4_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Probability of being cost-effective: 96% at willingness-to-pay of £28,054/QALY.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">The results were robust in sensitivity analyses, which included varying the age of RRBM and RRBSO, rates of risk-reducing surgery uptake, age of index cases, germline sensitivity, cost estimates for ovarian and breast cancer, considering index cases of either OC or BC and BRCA testing rate. In all these analyses, the ICER of genetic testing remained below £20k/QALY. Only when <i>BRCA</i> genetic testing cost increased to £898 (base-case: £379) the ICER of genetic testing increased to £32,028/QALY.</p></dd></dl></dl>
|
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</td></tr><tr><td headers="hd_h_niceng241er9.tab4_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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<p>
|
|
<a class="bibr" href="#niceng241er9.ref6" rid="niceng241er9.ref6">Moya-Alarc ón 2019</a>
|
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</p>
|
|
<p>Spain</p>
|
|
<p>Cost-utility analysis</p>
|
|
</td><td headers="hd_h_niceng241er9.tab4_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Potentially serious <sup>[8]</sup></td><td headers="hd_h_niceng241er9.tab4_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Partially <sup>[9]</sup></td><td headers="hd_h_niceng241er9.tab4_1_1_1_4" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>Modelling study (Patient-level simulation)</p>
|
|
<p>Genetic test:</p>
|
|
<p>BRCA1/BRCA2</p>
|
|
<p>Time horizon: 50 years</p>
|
|
<p>Outcome: QALYs</p>
|
|
<p>Comment: Includes index population, N=130 people with ovarian cancer and their cancer-free family members (N=104 first-degree and N=19 second-degree eligible relatives)</p>
|
|
</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£1,492,266 (for a cohort)</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">44 (for a cohort)</td><td headers="hd_h_niceng241er9.tab4_1_1_1_5 hd_h_niceng241er9.tab4_1_1_2_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">£33,915</td><td headers="hd_h_niceng241er9.tab4_1_1_1_6" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<dl class="temp-labeled-list"><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">Probability of being cost-effective: 53% at £37,721/QALY.</p></dd></dl><dl class="bkr_refwrap"><dt>-</dt><dd><p class="no_top_margin">The findings were robust to various sensitivity analyses explored including varying patients’ age, cancer risk in BRCA carriers, preventive surgery uptake, costs of tests and cancer management, cancer risk after preventive surgery, and cancer utilities.</p></dd></dl></dl>
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|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">Abbreviations: BC Breast cancer; CAD: Canadian Dollars; CI: Confidence interval; EOC: Epithelial ovarian cancer; ICER: Incremental Cost-Effectiveness effectiveness Ratio; k: Thousand; N: Number of people; OC Ovarian cancer; PARP-i: Poly(ADP-ribose) polymerase inhibitor; QALY: Quality-adjusted life-year; RRBM: Risk reducing bilateral mastectomy; RRBSO: Risk reducing bilateral salpingo-oophorectomy; UK: United Kingdom; US: Unites States; WTP: Willingness to pay</p></div></dd></dl><dl class="bkr_refwrap"><dt>[1]</dt><dd><div id="niceng241er9.tab4_1"><p class="no_margin">Costs were converted to UK pounds using OECD purchasing power parities (PPPs)</p></div></dd></dl><dl class="bkr_refwrap"><dt>[2]</dt><dd><div id="niceng241er9.tab4_2"><p class="no_margin">Well conducted study, no notable methodological issues identified</p></div></dd></dl><dl class="bkr_refwrap"><dt>[3]</dt><dd><div id="niceng241er9.tab4_3"><p class="no_margin">UK study; QALYs</p></div></dd></dl><dl class="bkr_refwrap"><dt>[4]</dt><dd><div id="niceng241er9.tab4_4"><p class="no_margin">Source of some model inputs unclear, otherwise well conducted study, deterministic and probabilistic sensitivity analyses undertaken</p></div></dd></dl><dl class="bkr_refwrap"><dt>[5]</dt><dd><div id="niceng241er9.tab4_5"><p class="no_margin">UK study; QALYs</p></div></dd></dl><dl class="bkr_refwrap"><dt>[6]</dt><dd><div id="niceng241er9.tab4_6"><p class="no_margin">Well conducted study, no notable methodological issues identified</p></div></dd></dl><dl class="bkr_refwrap"><dt>[7]</dt><dd><div id="niceng241er9.tab4_7"><p class="no_margin">Canadian study, 1.5% discount for costs and outcomes</p></div></dd></dl><dl class="bkr_refwrap"><dt>[8]</dt><dd><div id="niceng241er9.tab4_8"><p class="no_margin">Some data sources were unclear, deterministic and probabilistic sensitivity analyses undertaken, no discounting applied to QALYs which may have overestimated costeffectiveness</p></div></dd></dl><dl class="bkr_refwrap"><dt>[9]</dt><dd><div id="niceng241er9.tab4_9"><p class="no_margin">Spanish study</p></div></dd></dl></dl></div></div></div></article><article data-type="table-wrap" id="figobniceng241er9appjtab1"><div id="niceng241er9.appj.tab1" class="table"><h3><span class="label">Table 12</span><span class="title">Excluded studies and reasons for their exclusion</span></h3><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK604392/table/niceng241er9.appj.tab1/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__niceng241er9.appj.tab1_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Study</th><th id="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">Exclusion reason</th></tr></thead><tbody><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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Benusiglio, Patrick R, Korenbaum, Clement, Vibert, Roseline
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et al. (2020) Utility of a mainstreamed genetic testing pathway in breast and ovarian cancer patients during the COVID-19 pandemic. European journal of medical genetics
|
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63(12): 104098
|
|
|
|
[<a href="/pmc/articles/PMC7654320/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7654320</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33186762" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33186762</span></a>]
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</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Comparator in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
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D’Andrea, E., Marzuillo, C., De Vito, C.
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|
et al. (2016) Which BRCA genetic testing programs are ready for implementation in health care? A systematic review of economic evaluations. Genetics in Medicine
|
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18(12): 1171–1180
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|
[<a href="/pmc/articles/PMC5159446/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC5159446</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27906166" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27906166</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Study design does not match that specified in this review protocol</p>
|
|
<p>– <i>Review of health economics evaluations</i></p>
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</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Delahunty, R., Nguyen, L., Craig, S.
|
|
et al. (2022) TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members. Journal of Clinical Oncology
|
|
40(18): 2036–2047
|
|
[<a href="/pmc/articles/PMC9197360/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9197360</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35263119" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35263119</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Comparator in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Eccles, D.M., Balmana, J., Clune, J.
|
|
et al. (2016) Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review. Advances in Therapy
|
|
33(2): 129–150
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/26809252" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26809252</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Study reported is included systematic review</p>
|
|
<p>
|
|
<i>Overlap of studies included in this review with <a class="bibr" href="#niceng241er9.ref1" rid="niceng241er9.ref1">Arts-de Jong 2016</a> systematic review. Outcomes are reported in a way that more closely matches our review protocol in the <a class="bibr" href="#niceng241er9.ref1" rid="niceng241er9.ref1">Arts-de Jong 2016</a> review</i>
|
|
</p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Hodan, R., Kingham, K., Cotter, K.
|
|
et al. (2021) Prevalence of Lynch syndrome in women with mismatch repair-deficient ovarian cancer. Cancer Medicine
|
|
10(3): 1012–1017
|
|
[<a href="/pmc/articles/PMC7897945/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7897945</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/33369189" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33369189</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Study reported is included systematic review</p>
|
|
<p><i>Included in</i>
|
|
<a class="bibr" href="#niceng241er9.ref2" rid="niceng241er9.ref2">Atwal 2022</a>
|
|
<i>systematic review</i></p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Ip, E., Young, A.L., Scheinberg, T.
|
|
et al. (2022) Evaluation of a mainstream genetic testing program for women with ovarian or breast cancer. Asia-Pacific Journal of Clinical Oncology
|
|
18(5): e414–e419
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/35098668" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35098668</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Comparator in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Jeong, G.W., Shin, W., Lee, D.O.
|
|
et al. (2021) Uptake of family-specific mutation genetic testing among relatives of patients with ovarian cancer with BRCA1 or BRCA2 mutation. Cancer Research and Treatment
|
|
53(1): 207–211
|
|
[<a href="/pmc/articles/PMC7812001/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7812001</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32777875" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32777875</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Outcomes in study do not match those specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
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Kansu, B., Gardner, J., Price-Tate, R.
|
|
et al. (2021) BRCA gene testing in women with high-grade serous ovarian carcinoma. Journal of Obstetrics and Gynaecology
|
|
41(6): 962–965
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/33228436" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 33228436</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Comparator in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Kemp, Z., Turnbull, A., Yost, S.
|
|
et al. (2019) Evaluation of cancer-based criteria for use in mainstream BRCA1 and BRCA2 genetic testing in patients with breast cancer. JAMA Network Open
|
|
2(5): e194428
|
|
[<a href="/pmc/articles/PMC6632150/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6632150</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31125106" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31125106</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Population in study does not match that specified in this review protocol</p>
|
|
<p>– <i>Not women with a personal history of ovarian cancer</i></p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Kim, S.R., Tone, A., Kim, R.H.
|
|
et al. (2020) Performance characteristics of screening strategies to identify Lynch syndrome in women with ovarian cancer. Cancer
|
|
126(22): 4886–4894
|
|
[<a href="/pmc/articles/PMC7693219/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7693219</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32809219" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32809219</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Study reported is included systematic review</p>
|
|
<p><i>Included in</i>
|
|
<a class="bibr" href="#niceng241er9.ref2" rid="niceng241er9.ref2">Atwal 2022</a>
|
|
<i>systematic review</i></p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Konstantinopoulos, P.A., Norquist, B., Lacchetti, C.
|
|
et al. (2020) Germline and somatic tumor testing in epithelial ovarian cancer: ASCO guideline. Journal of Clinical Oncology
|
|
38(11): 1222–1245
|
|
[<a href="/pmc/articles/PMC8842911/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8842911</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/31986064" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31986064</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Comparator in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Lin, J., Sharaf, R.N., Saganty, R.
|
|
et al. (2021) Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis. Gynecologic Oncology
|
|
162(2): 506–516
|
|
[<a href="/pmc/articles/PMC8424684/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC8424684</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/34023131" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 34023131</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Comparator in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Lindsay, Colin R, Shaw, Emily C, Blackhall, Fiona
|
|
et al. (2018) Somatic cancer genetics in the UK: real-world data from phase I of the Cancer Research UK Stratified Medicine Programme. ESMO open
|
|
3(6): e000408
|
|
[<a href="/pmc/articles/PMC6135448/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6135448</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30233821" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30233821</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Intervention in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Menko, F.H., Jeanson, K.N., Bleiker, E.M.A.
|
|
et al. (2020) The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure. European Journal of Human Genetics
|
|
28(8): 1020–1027
|
|
[<a href="/pmc/articles/PMC7381651/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7381651</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32300191" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32300191</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Outcomes in study do not match those specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Mohyuddin, G.R., Aziz, M., Britt, A.
|
|
et al. (2020) Similar response rates and survival with PARP inhibitors for patients with solid tumors harboring somatic versus Germline BRCA mutations: A Meta-analysis and systematic review. BMC Cancer
|
|
20(1): 507
|
|
[<a href="/pmc/articles/PMC7267765/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC7267765</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/32493233" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32493233</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Comparator in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Moya-Alarcon, Carlota, Gonzalez-Dominguez, Almudena, Simon, Susana
|
|
et al. (2019) Cost-utility analysis of germline BRCA1/2 testing in women with high-grade epithelial ovarian cancer in Spain. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
|
|
21(8): 1076–1084
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/30617925" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30617925</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Study design does not match that specified in this review protocol</p>
|
|
<p>
|
|
<i>Health economics evaluation</i>
|
|
</p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Nelson, H.D., Pappas, M., Cantor, A.
|
|
et al. (2019) Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA- Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA - Journal of the American Medical Association
|
|
322(7): 666–685
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|
[<a href="https://pubmed.ncbi.nlm.nih.gov/31429902" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31429902</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Population in study does not match that specified in this review protocol</p>
|
|
<p>
|
|
<i>Not women with a personal history of ovarian cancer</i>
|
|
</p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Nelson, Heidi D., Pappas, Miranda, Cantor, Amy
|
|
et al. (2019) Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force. [<a href="https://pubmed.ncbi.nlm.nih.gov/31479213" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 31479213</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Population in study does not match that specified in this review protocol</p>
|
|
<p>
|
|
<i>Not women with a personal history of ovarian cancer</i>
|
|
</p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Saam, Jennifer, Moyes, Kelsey, Landon, Michelle
|
|
et al. (2015) Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis. Oncology
|
|
88(4): 226–33
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/25503195" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25503195</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Comparator in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Scheinberg, T., Young, A., Woo, H.
|
|
et al. (2021) Mainstream consent programs for genetic counseling in cancer patients: A systematic review. Asia-Pacific Journal of Clinical Oncology
|
|
17(3): 163–177
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/32309911" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 32309911</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">- Intervention in study does not match that specified in this review protocol</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Trainer, A.H., Meiser, B., Watts, K.
|
|
et al. (2010) Moving toward personalized medicine: Treatment-focused genetic testing of women newly diagnosed with ovarian cancer. International Journal of Gynecological Cancer
|
|
20(5): 704–716
|
|
[<a href="https://pubmed.ncbi.nlm.nih.gov/20973257" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20973257</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Population in study does not match that specified in this review protocol</p>
|
|
<p>
|
|
<i>Predates WHO 2014 histology classification system for OC</i>
|
|
</p>
|
|
</td></tr><tr><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
Yap, T.A., Ashok, A., Stoll, J.
|
|
et al. (2022) Prevalence of Germline Findings among Tumors from Cancer Types Lacking Hereditary Testing Guidelines. JAMA Network Open
|
|
5(5): e2213070
|
|
[<a href="/pmc/articles/PMC9123503/" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC9123503</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/35594047" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 35594047</span></a>]
|
|
</td><td headers="hd_h_niceng241er9.appj.tab1_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
|
<p>- Population in study does not match that specified in this review protocol</p>
|
|
<p>
|
|
<i>Focus is on other tumour types</i>
|
|
</p>
|
|
</td></tr></tbody></table></div><div class="tblwrap-foot"><div><dl class="temp-labeled-list small"><dl class="bkr_refwrap"><dt></dt><dd><div><p class="no_margin">OC: ovarian cancer</p></div></dd></dl></dl></div></div></div></article></div><div id="jr-scripts"><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/libs.min.js"> </script><script src="/corehtml/pmc/jatsreader/ptpmc_3.22/js/jr.min.js"> </script></div></div>
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