489 lines
33 KiB
HTML
489 lines
33 KiB
HTML
|
||
<!DOCTYPE html>
|
||
<html lang="en" id="understanding_genetics" class="nojs us" data-root="https://medlineplus.gov/">
|
||
|
||
<head>
|
||
|
||
<meta charset="utf-8" />
|
||
<meta http-equiv="X-UA-Compatible" content="IE=edge,chrome=1" />
|
||
<meta http-equiv="window-target" content="_top" />
|
||
<meta http-equiv="Content-Type" content="text/html; charset=UTF-8" />
|
||
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
||
|
||
|
||
|
||
|
||
|
||
<link rel="canonical" href="https://medlineplus.gov/genetics/understanding/testing/secondaryfindings/" />
|
||
|
||
|
||
|
||
|
||
<link rel="alternate" hreflang="en" href="https://medlineplus.gov/genetics/understanding/testing/secondaryfindings/" />
|
||
<link rel="alternate" hreflang="es" href="https://medlineplus.gov/spanish/genetica/entender/pruebas/hallazgossecundarios/" />
|
||
|
||
|
||
|
||
|
||
<meta name="ac-dictionary" content="medlineplus-ac-dictionary" />
|
||
|
||
<meta name="description" content="Secondary findings are genetic test results that provide information about conditions separate from the one for which the test was originally run." />
|
||
|
||
|
||
|
||
<link rel="shortcut icon" href="https://medlineplus.gov/images/favicon.ico" type="image/x-icon" />
|
||
<link rel="apple-touch-icon" href="https://medlineplus.gov/images/touch-icon.png" />
|
||
|
||
|
||
<meta property="fb:app_id" content="1042245625821448" />
|
||
|
||
|
||
|
||
<meta property="og:title" content="What are secondary findings from genetic testing?: MedlinePlus Genetics" />
|
||
<meta property="og:url" content="https://medlineplus.gov/genetics/understanding/testing/secondaryfindings/" />
|
||
|
||
|
||
|
||
<meta property="og:image" content="https://medlineplus.gov/images/GeneticTesting_Share.jpg" />
|
||
|
||
|
||
|
||
<meta property="og:description" content="Secondary findings are genetic test results that provide information about conditions separate from the one for which the test was originally run." />
|
||
|
||
|
||
<meta name="twitter:card" content="summary_large_image" />
|
||
<meta name="twitter:site" content="@medlineplus" />
|
||
<meta name="twitter:creator" content="@medlineplus" />
|
||
<meta name="twitter:title" content="What are secondary findings from genetic testing?: MedlinePlus Genetics" />
|
||
<meta name="twitter:description" content="Secondary findings are genetic test results that provide information about conditions separate from the one for which the test was originally run." />
|
||
<meta name="twitter:image" content="https://medlineplus.gov/images/GeneticTesting_Share.jpg" />
|
||
|
||
<meta name="twitter:image:alt" content=""/>
|
||
<meta property="og:image:alt" content="" />
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<title>What are secondary findings from genetic testing?: MedlinePlus Genetics</title>
|
||
|
||
<link rel="stylesheet" href="https://medlineplus.gov/css/common_new.css?1738957188049" />
|
||
<!--[if IE 8]> <link rel="stylesheet" href="https://medlineplus.gov/css/ie8/common.css"> <![endif]-->
|
||
<link rel="stylesheet" href="https://medlineplus.gov/uswds/css/uswds_styles.css" />
|
||
|
||
<link rel="stylesheet" href="https://medlineplus.gov/utilities/lostatic.css">
|
||
|
||
|
||
|
||
<script type="text/javascript">document.getElementsByTagName('html')[0].className = document.getElementsByTagName('html')[0].className.replace( /(?:^|\s)nojs(?!\S)/g , '').trim();</script>
|
||
<script src="https://medlineplus.gov/uswds/js/uswds-init.min.js" type="text/javascript"></script>
|
||
|
||
|
||
|
||
|
||
<script>(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':
|
||
new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],
|
||
j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src=
|
||
'https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);
|
||
})(window,document,'script','dataLayer','GTM-MMVM77');</script>
|
||
</head>
|
||
|
||
<body>
|
||
|
||
<noscript><iframe src="https://www.googletagmanager.com/ns.html?id=GTM-MMVM77"
|
||
height="0" width="0" style="display:none;visibility:hidden" title="googletagmanager"></iframe></noscript>
|
||
|
||
|
||
|
||
<a name="top" id="top"></a>
|
||
<a class="hide-offscreen" href="#start">Skip navigation</a>
|
||
|
||
|
||
|
||
<section
|
||
class="usa-banner"
|
||
aria-label="Official website of the United States government"
|
||
>
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner__header">
|
||
<div class="usa-banner__inner">
|
||
<div class="grid-col-auto">
|
||
<img
|
||
aria-hidden="true"
|
||
class="usa-banner__header-flag"
|
||
src="https://medlineplus.gov/uswds/img/us_flag_small.png"
|
||
alt=""
|
||
/>
|
||
</div>
|
||
<div class="grid-col-fill tablet:grid-col-auto" aria-hidden="true">
|
||
<p class="usa-banner__header-text">
|
||
An official website of the United States government
|
||
</p>
|
||
<p class="usa-banner__header-action">Here’s how you know</p>
|
||
</div>
|
||
<button
|
||
type="button"
|
||
class="usa-accordion__button usa-banner__button"
|
||
aria-expanded="false"
|
||
aria-controls="gov-banner-default-default"
|
||
>
|
||
<span class="usa-banner__button-text">Here’s how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div
|
||
class="usa-banner__content usa-accordion__content"
|
||
id="gov-banner-default-default"
|
||
>
|
||
<div class="grid-row grid-gap-lg">
|
||
<div class="usa-banner__guidance tablet:grid-col-6">
|
||
<img
|
||
class="usa-banner__icon usa-media-block__img"
|
||
src="https://medlineplus.gov/uswds/img/icon-dot-gov.svg"
|
||
role="img"
|
||
alt=""
|
||
aria-hidden="true"
|
||
/>
|
||
<div class="usa-media-block__body">
|
||
<p>
|
||
<strong>Official websites use .gov</strong><br />A
|
||
<strong>.gov</strong> website belongs to an official government
|
||
organization in the United States.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner__guidance tablet:grid-col-6">
|
||
<img
|
||
class="usa-banner__icon usa-media-block__img"
|
||
src="https://medlineplus.gov/uswds/img/icon-https.svg"
|
||
role="img"
|
||
alt=""
|
||
aria-hidden="true"
|
||
/>
|
||
<div class="usa-media-block__body">
|
||
<p>
|
||
<strong>Secure .gov websites use HTTPS</strong><br />A
|
||
<strong>lock</strong> (
|
||
<span class="icon-lock"
|
||
><svg
|
||
xmlns="http://www.w3.org/2000/svg"
|
||
width="52"
|
||
height="64"
|
||
viewBox="0 0 52 64"
|
||
class="usa-banner__lock-image"
|
||
role="img"
|
||
aria-labelledby="banner-lock-description-default"
|
||
focusable="false"
|
||
>
|
||
<title id="banner-lock-title-default">Lock</title>
|
||
<desc id="banner-lock-description-default">Locked padlock icon</desc>
|
||
<path
|
||
fill="#000000"
|
||
fill-rule="evenodd"
|
||
d="M26 0c10.493 0 19 8.507 19 19v9h3a4 4 0 0 1 4 4v28a4 4 0 0 1-4 4H4a4 4 0 0 1-4-4V32a4 4 0 0 1 4-4h3v-9C7 8.507 15.507 0 26 0zm0 8c-5.979 0-10.843 4.77-10.996 10.712L15 19v9h22v-9c0-6.075-4.925-11-11-11z"
|
||
/>
|
||
</svg> </span
|
||
>) or <strong>https://</strong> means you’ve safely connected to
|
||
the .gov website. Share sensitive information only on official,
|
||
secure websites.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
|
||
|
||
<div id="mplus-wrap">
|
||
<header>
|
||
<div id="mplus-header">
|
||
|
||
<div id="mplus-orgs">
|
||
<a href="https://www.nih.gov/" class="nih-org" target="_blank" title="National Institutes of Health">
|
||
<img class="nihlogo" src="https://medlineplus.gov/images/nihlogo.png" alt="National Institutes of Health"/>
|
||
</a><a href="https://www.nlm.nih.gov/" target="_blank"> National Library of Medicine</a>
|
||
</div>
|
||
|
||
|
||
<div id="mplus-logo" class="years-25">
|
||
<a href="https://medlineplus.gov/">
|
||
<img alt="MedlinePlus Trusted Health Information for You" title="MedlinePlus Trusted Health Information for You" src="https://medlineplus.gov/images/m_logo_25.png"/>
|
||
</a>
|
||
</div>
|
||
|
||
|
||
<div id="mplus-nav">
|
||
|
||
<div aria-live="polite" class="sm-live-area hide-offscreen"></div>
|
||
<button id="sm-menu-btn" class="navmenu-btn" title="Menu" role="button" aria-controls="mplus-menu-list" type="submit">Menu<span class="icon icon-nav-menu"></span></button>
|
||
<ul id="mplus-menu-list" class="nav-list">
|
||
<li><a href="https://medlineplus.gov/healthtopics.html">Health Topics</a></li>
|
||
<li><a href="https://medlineplus.gov/druginformation.html">Drugs & Supplements</a></li>
|
||
<li><a href="https://medlineplus.gov/genetics/">Genetics</a></li>
|
||
<li><a href="https://medlineplus.gov/lab-tests/">Medical Tests</a></li>
|
||
<li><a href="https://medlineplus.gov/encyclopedia.html">Medical Encyclopedia</a></li>
|
||
<li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li>
|
||
</ul><button id="sm-search-btn" class="navmenu-btn" title="Search" role="button" aria-controls="mplus-search" type="submit"><span class="hide-offscreen"></span>Search<span class="icon icon-nav-search"></span></button>
|
||
|
||
<div class="top-1">
|
||
|
||
<form id="mplus-search" method="get" action="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta" title="Search MedlinePlus" target="_self">
|
||
|
||
<input type="hidden" name="v:project" value="medlineplus"/>
|
||
<input type="hidden" name="v:sources" value="medlineplus-bundle"/>
|
||
|
||
<div class="form-box text-combo">
|
||
<div class="form-area"><label class="hide-offscreen" for="searchtext_primary">Search MedlinePlus</label>
|
||
<input id="searchtext_primary" class="form-text" type="text" placeholder="Search MedlinePlus" alt="#Site Search input" title="Site Search input" maxlength="400" size="40" name="query" autocomplete="off" role="textbox" aria-autocomplete="list" aria-haspopup="true"/>
|
||
</div>
|
||
<div class="button-area">
|
||
<button class="form-btn" title="Search MedlinePlus" alt="Search MedlinePlus" type="submit">GO</button>
|
||
</div>
|
||
</div>
|
||
</form>
|
||
|
||
<div class="secondarynav">
|
||
<ul class="nav-list">
|
||
<li><a href="https://medlineplus.gov/about/"><span>About MedlinePlus</span></a></li>
|
||
<li><a href="https://medlineplus.gov/whatsnew/">What's New</a></li>
|
||
<li><a href="https://medlineplus.gov/sitemap.html"><span>Site Map</span></a></li>
|
||
|
||
|
||
<li><a href="https://support.nlm.nih.gov/knowledgebase/category/?id=CAT-01231&category=medlineplus&from=https%3A//medlineplus.gov/genetics/understanding/testing/secondaryfindings/" target="_blank"><span>Customer Support</span></a></li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
</div>
|
||
<div id="mplus-nav-bar">
|
||
<ul class="nav-list">
|
||
<li><a href="https://medlineplus.gov/healthtopics.html">Health Topics</a></li><li><a href="https://medlineplus.gov/druginformation.html">Drugs & Supplements</a></li><li><a href="https://medlineplus.gov/genetics/">Genetics</a></li><li><a href="https://medlineplus.gov/lab-tests/">Medical Tests</a></li><li><a href="https://medlineplus.gov/encyclopedia.html">Medical Encyclopedia</a></li>
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
<a id="mplus-lang-toggle" href="https://medlineplus.gov/spanish/genetica/entender/pruebas/hallazgossecundarios/" title="Español">Español</a>
|
||
|
||
</div>
|
||
</div>
|
||
</header>
|
||
|
||
<div id="mplus-content">
|
||
|
||
<div id="breadcrumbs">
|
||
<div itemprop="breadcrumb" itemscope="" itemtype="http://schema.org/BreadcrumbList">
|
||
<span class="hide-offscreen">You Are Here:</span>
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov/" itemprop="item"><span itemprop="name">Home</span></a>
|
||
→
|
||
<meta itemprop="position" content="1"/>
|
||
</div>
|
||
|
||
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov/genetics/" itemprop="item"><span itemprop="name">Genetics</span></a>
|
||
→
|
||
<meta itemprop="position" content="2"/>
|
||
</div>
|
||
|
||
|
||
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov/genetics/understanding/" itemprop="item"><span itemprop="name">Help Me Understand Genetics</span></a>
|
||
→
|
||
<meta itemprop="position" content="3"/>
|
||
</div>
|
||
|
||
|
||
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov/genetics/understanding/testing/" itemprop="item"><span itemprop="name">Genetic Testing</span></a>
|
||
→
|
||
<meta itemprop="position" content="4"/>
|
||
</div>
|
||
|
||
|
||
|
||
<div>
|
||
<span>What are secondary findings from genetic testing?</span>
|
||
</div>
|
||
|
||
|
||
</div>
|
||
</div>
|
||
<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/understanding/testing/secondaryfindings/</span>
|
||
|
||
<div >
|
||
|
||
<article>
|
||
<div class="page-info">
|
||
<div class="page-title">
|
||
<a name="start" id="start"></a>
|
||
<h1>What are secondary findings from genetic testing?</h1>
|
||
</div>
|
||
<div class="page-actions"></div>
|
||
<noscript><span class="js-disabled-message">To use the sharing features on this page, please enable JavaScript.</span></noscript>
|
||
</div>
|
||
|
||
<div class="main">
|
||
|
||
<section><div class="mp-content"><p>Secondary findings are genetic test results that provide information about changes (variants) in a gene unrelated to the primary purpose for the testing.</p>
|
||
<p>When a clinician orders a <a data-pid="20219" href="https://medlineplus.gov/genetics/understanding/testing/genetictesting/">genetic test</a> to discover the genetic cause of a particular condition, the test will often <a data-pid="31121" href="https://medlineplus.gov/genetics/understanding/testing/types/">sequence </a>one or a few genes that seem most likely to be associated with that individual’s set of signs and symptoms. However, if the individual’s signs and symptoms do not have an obvious genetic cause, a clinician might order a test that sequences all of the pieces of an individual's DNA that provide instructions for making proteins (called an exome) or a test that sequences all of an individual’s DNA building blocks (nucleotides), called a genome. These tests are called <a data-pid="20245" href="https://medlineplus.gov/genetics/understanding/testing/sequencing/">whole exome sequencing and whole genome sequencing</a>, respectively.</p>
|
||
<p>Many more genetic changes can be identified with whole exome and whole genome sequencing than by sequencing just one or a few genes. Sometimes, testing finds a variant that is associated with a condition other than the one for which testing was originally indicated. This is called a secondary finding. Some individuals with a secondary finding may not yet have any of the symptoms associated with the condition, but may be at risk of developing it later in life. For example, a person with a variant in the<em> </em><a data-pid="17085" href="https://medlineplus.gov/genetics/gene/brca1/"><em>BRCA1</em></a>
|
||
gene, which is associated with an increased risk of <a data-pid="14415" href="https://medlineplus.gov/genetics/condition/breast-cancer/">breast cancer</a> and <a data-pid="16533" href="https://medlineplus.gov/genetics/condition/ovarian-cancer/">ovarian cancer</a>, may not have developed cancer. Other individuals with secondary findings may have a known medical condition, such as extremely high cholesterol, but receive results that indicate a genetic cause for that condition, such as a variant in the<em> </em><a data-pid="17699" href="https://medlineplus.gov/genetics/gene/ldlr/"><em>LDLR</em></a> gene.</p>
|
||
<p>In 2013, then again in 2017 and 2021, the American College of Medical Genetics and Genomics (ACMG) recommended that all labs performing whole exome and whole genome sequencing tests report particular secondary findings, in addition to any variants that are found related to the primary purpose of the testing. In the 2021 updated recommendations, ACMG proposed a list of 73 genes that are associated with a variety of conditions, from cancer to heart disease. The 73 genes for which secondary findings are reported were chosen because they are associated with conditions that have a definable set of clinical features, the possibility of early diagnosis, a reliable clinical genetic test, and effective intervention or treatment. The goal of reporting these secondary findings to an individual is to provide medical benefit by preventing or better managing health conditions. The variants that are reported are known to cause disease. <a data-pid="20121" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/neutralmutations/">Variants of unknown significance</a>, whose involvement in disease at the current time is unclear, are not reported.</p>
|
||
<p>The information provided by secondary findings can be very important because it may help prevent a disease from occurring or guide the management of signs and symptoms if the disease develops or is already present. However, as with any type of medical diagnosis, the news of an unexpected potential health problem may lead to additional health costs and stress for individuals and their families. On the basis of secondary findings, additional testing to confirm results, ongoing screening tests, or preventive care may be advised. Individuals receiving whole exome or whole genome sequencing can choose to “opt out” of analysis of the 73 secondary finding genes and not receive variant results. As whole exome and whole genome sequencing become more common, it is important for individuals to understand what type of information they may learn and how it can impact their medical care.</p>
|
||
<h2>Scientific journal articles for further reading</h2>
|
||
<p>Robert C. Green MD, MPH, Jonathan S. Berg MD, PhD, Wayne W. Grody MD, PhD, Sarah S. Kalia ScM, CGC, Bruce R. Korf MD, PhD, Christa L. Martin PhD, FACMG, Amy L. McGuire JD, PhD, Robert L. Nussbaum MD, Julianne M. O’Daniel MS, CGC, Kelly E. Ormond MS, CGC, Heidi L. Rehm PhD, FACMG, Michael S. Watson PhD, FACMG, Marc S. Williams MD, FACMG & Leslie G. Biesecker MD. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20. PubMed: <a href="https://www.ncbi.nlm.nih.gov/pubmed/23788249" target="_blank">23788249</a>. Free full-text article from PubMed Central: <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3727274/" target="_blank">3727274</a>.</p>
|
||
<p>Sarah S. Kalia ScM, Kathy Adelman, Sherri J. Bale PhD, Wendy K. Chung MD, PhD, Christine Eng MD, James P. Evans MD, PhD, Gail E. Herman MD, PhD, Sophia B. Hufnagel MD, Teri E. Klein PhD, Bruce R. Korf MD, PhD, Kent D. McKelvey MD, Kelly E. Ormond MS, C. Sue Richards PhD, Christopher N. Vlangos PhD, Michael Watson PhD, Christa L. Martin PhD & David T. Miller MD, PhD ; on behalf of the ACMG Secondary Findings Maintenance Working Group. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. Epub 2016 Nov 17. PubMed: <a href="https://www.ncbi.nlm.nih.gov/pubmed/27854360" target="_blank">27854360</a>.</p><p>Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, Stewart DR, Amendola LM, Adelman K, Bale SJ, Gollob MH, Harrison SM, Hershberger RE, McKelvey K, Richards CS, Vlangos CN, Watson MS, Martin CL; ACMG Secondary Findings Working Group. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 May 20. doi: 10.1038/s41436-021-01172-3. Epub ahead of print. PMID: <a href="https://pubmed.ncbi.nlm.nih.gov/34012068/">34012068</a>.</p> <p> </p></div>
|
||
</section>
|
||
|
||
</div>
|
||
|
||
<div class="side">
|
||
<aside>
|
||
|
||
<section><div class="side-section"><div class="mp-content"><div class="section-header long-header">
|
||
<h2>Learn more about secondary genetic findings:</h2>
|
||
</div>
|
||
<div class="section-body">
|
||
<p>The Columbia University Medical Center has videos giving an <a href="http://www.learninggenetics.org/secondary-findings.html" target="_blank">Introduction to Secondary Findings</a> as well as discussing the <a href="http://www.learninggenetics.org/pros-cons.html" target="_blank">Pros and Cons of Secondary Findings</a> and <a href="http://www.learninggenetics.org/decisions.html" target="_blank">Decisions about Secondary Findings</a>.</p>
|
||
<p>The American College of Medical Genetics and Genomics provides <a href="https://www.ncbi.nlm.nih.gov/books/NBK553548/" target="_blank">ACT Sheets</a> on secondary findings for mutliple genes, which is available through the NCBI Bookshelf.</p>
|
||
<p>MedlinePlus Genetics has information on many of the <a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?&v:project=medlineplus&v:sources=medlineplus-bundle&query=secondary%20findings&binning-state=group%3d%3dGenetics%0aalpha%3d%3dGenetic%20Conditions&">genetic conditions</a> and <a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?&v:project=medlineplus&v:sources=medlineplus-bundle&query=secondary%20findings&binning-state=group%3d%3dGenetics%0aalpha%3d%3dGenes&">genes </a>that are associated with the 73 ACMG-recommended secondary finding genes.<span class="desc-text"><img alt="From the National Institutes of Health" class="imgdesc" height="16" src="https://medlineplus.gov/images/nih.png" title="From the National Institutes of Health" width="25"/></span></p>
|
||
<p>The U.S. National Library of Medicine provides a list of the <a href="https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/" target="_blank">ACMG-recommended secondary finding genes and their associated conditions</a>.<span class="desc-text"><img alt="From the National Institutes of Health" class="imgdesc" height="16" src="https://medlineplus.gov/images/nih.png" title="From the National Institutes of Health" width="25"/></span></p>
|
||
</div></div>
|
||
</div></section>
|
||
|
||
</aside>
|
||
</div>
|
||
|
||
|
||
<div class="bottom">
|
||
|
||
<section><div class="mp-exp mp-content"><h2>Topics in the Genetic Testing chapter</h2>
|
||
<ul><li><a data-pid="20219" href="https://medlineplus.gov/genetics/understanding/testing/genetictesting/">What is genetic testing?</a></li><li><a data-pid="31121" href="https://medlineplus.gov/genetics/understanding/testing/types/">What are the different types of genetic tests?</a></li><li><a data-pid="20221" href="https://medlineplus.gov/genetics/understanding/testing/uses/">What are the uses of genetic testing?</a></li><li><a data-pid="20223" href="https://medlineplus.gov/genetics/understanding/testing/procedure/">How is genetic testing done?</a></li><li><a data-pid="20225" href="https://medlineplus.gov/genetics/understanding/testing/informedconsent/">What is informed consent?</a></li><li><a data-pid="20227" href="https://medlineplus.gov/genetics/understanding/testing/validtest/">How can I be sure a genetic test is valid and useful?</a></li><li><a data-pid="20229" href="https://medlineplus.gov/genetics/understanding/testing/interpretingresults/">What do the results of genetic tests mean?</a></li><li><a data-pid="20231" href="https://medlineplus.gov/genetics/understanding/testing/costresults/">What is the cost of genetic testing, and how long does it take to get the results?</a></li><li><a data-pid="20233" href="https://medlineplus.gov/genetics/understanding/testing/insurancecoverage/">Will health insurance cover the costs of genetic testing?</a></li><li><a data-pid="20235" href="https://medlineplus.gov/genetics/understanding/testing/benefits/">What are the benefits of genetic testing?</a></li><li><a data-pid="20237" href="https://medlineplus.gov/genetics/understanding/testing/riskslimitations/">What are the risks and limitations of genetic testing?</a></li><li><a data-pid="20239" href="https://medlineplus.gov/genetics/understanding/testing/discrimination/">What is genetic discrimination?</a></li><li><a data-pid="20241" href="https://medlineplus.gov/genetics/understanding/testing/genepatents/">Can genes be patented?</a></li><li><a data-pid="31501" href="https://medlineplus.gov/genetics/understanding/testing/differenttests/">How are genetic screening tests different from genetic diagnostic tests?</a></li><li><a data-pid="20243" href="https://medlineplus.gov/genetics/understanding/testing/researchtesting/">How does genetic testing in a research setting differ from clinical genetic testing?</a></li><li><a data-pid="20245" href="https://medlineplus.gov/genetics/understanding/testing/sequencing/">What are whole exome sequencing and whole genome sequencing?</a></li><li>What are secondary findings from genetic testing?</li><li><a data-pid="20249" href="https://medlineplus.gov/genetics/understanding/testing/nipt/">What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?</a></li><li><a data-pid="20251" href="https://medlineplus.gov/genetics/understanding/testing/circulatingtumordna/">What is circulating tumor DNA and how is it used to diagnose and manage cancer?</a></li></ul>
|
||
<p><a data-pid="20081" href="https://medlineplus.gov/genetics/understanding/">Other chapters in Help Me Understand Genetics</a></p></div>
|
||
</section>
|
||
|
||
<section>
|
||
<!--
|
||
<div class="from-ghr">
|
||
<img src="https://medlineplus.gov/images/fromGHR.png" alt="From Genetics Home Reference" />
|
||
<p>Genetics Home Reference has merged with MedlinePlus. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. <a href="https://medlineplus.gov/about/general/genetics/newhome/">Learn more</a></p>
|
||
</div>
|
||
-->
|
||
|
||
|
||
<p>The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.</p>
|
||
|
||
</section>
|
||
|
||
</div>
|
||
|
||
</article>
|
||
|
||
</div>
|
||
|
||
|
||
<div id="citation-how-to">
|
||
<button><span>Learn how to cite this page</span></button>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<footer>
|
||
<div id="mplus-footer">
|
||
<div class="footer1">
|
||
|
||
<ul class="secondarynav">
|
||
<li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li>
|
||
<li><a href="https://medlineplus.gov/whatsnew/">What's New</a></li>
|
||
<li><a href="https://medlineplus.gov/sitemap.html">Site Map</a></li>
|
||
|
||
|
||
<li><a href="https://support.nlm.nih.gov/knowledgebase/category/?id=CAT-01231&category=medlineplus&from=https%3A//medlineplus.gov/genetics/understanding/testing/secondaryfindings/" target="_blank"><span>Customer Support</span></a></li>
|
||
|
||
</ul>
|
||
|
||
<ul class="follow-footer">
|
||
<li>
|
||
<a href="https://medlineplus.gov/rss.html" class="follow-item">Subscribe to RSS<img src="https://medlineplus.gov/images/feed.png" class="social-media-toolkit-icon" alt="RSS" title="RSS"></a>
|
||
</li>
|
||
<li>
|
||
<span class="follow-label">Follow us</span>
|
||
<a href="https://twitter.com/medlineplus" class="follow-item" target="_blank">
|
||
<img src="https://medlineplus.gov/images/i_share_twitter.png" class="follow-icon" alt="X" title="X">
|
||
</a>
|
||
<a href="https://facebook.com/Mplus.gov/" class="follow-item" target="_blank">
|
||
<img src="https://medlineplus.gov/images/i_share_fb.png" class="follow-icon" alt="Facebook" title="Facebook">
|
||
</a>
|
||
<a href="https://www.instagram.com/mplusgov/" class="follow-item" target="_blank">
|
||
<img src="https://medlineplus.gov/images/Instagram_Glyph_Gradient_RGB.png" class="follow-icon" alt="Instagram" title="Instagram">
|
||
</a>
|
||
</li>
|
||
<li>
|
||
<a href="https://medlineplus.gov/social-media-toolkit/" class="social-media-toolkit-item">Social Media Toolkit<img src="https://medlineplus.gov/images/i_social_media_toolkit.png" class="social-media-toolkit-icon" alt="Social Media Toolkit" title="Social Media Toolkit"></a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
|
||
<div class="footer2">
|
||
<ul>
|
||
|
||
|
||
<li><a href=" https://www.nlm.nih.gov/web_policies.html" target='_blank'>NLM Web Policies</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/about/using/usingcontent/" >Copyright</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/accessibility.html">Accessibility</a></li>
|
||
<li><a href="https://medlineplus.gov/about/using/criteria/">Guidelines for Links</a></li>
|
||
<li><a href="https://medlineplus.gov/plugins.html">Viewers & Players</a></li>
|
||
<li><a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" target="_blank">HHS Vulnerability Disclosure</a></li>
|
||
|
||
<li><a href="https://medlineplus.gov/medlineplus-connect/">MedlinePlus Connect for EHRs</a></li>
|
||
<li><a href="https://medlineplus.gov/about/developers/">For Developers</a></li>
|
||
|
||
</ul>
|
||
|
||
<div class="address">
|
||
<a href="https://www.nlm.nih.gov" target="_blank">National Library of Medicine</a>
|
||
<span>8600 Rockville Pike, Bethesda, MD 20894</span>
|
||
<a href="https://www.hhs.gov" target="_blank">U.S. Department of Health and Human Services</a>
|
||
<a href="https://www.nih.gov" target="_blank">National Institutes of Health</a>
|
||
|
||
</div>
|
||
|
||
|
||
<div class="date">
|
||
|
||
|
||
|
||
<span id="lastupdate">Last updated July 29, 2021</span>
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
||
<div class="return-top"><a href="#top" title="Return to top"><img class="return-top-icon" alt="Return to top" src="https://medlineplus.gov/images/return-top.png"></a></div>
|
||
</div>
|
||
</div>
|
||
</footer>
|
||
</div>
|
||
|
||
|
||
<script src="https://medlineplus.gov/jslib/jquery-3.6.0.min.js" type="text/javascript"></script>
|
||
<script src="https://medlineplus.gov/jslib/mplus-frontend-controls-new.js" type="text/javascript"></script>
|
||
<script src="https://medlineplus.gov/jslib/mplus-share.js?id=1112022" type="text/javascript"></script>
|
||
<!--[if lte IE 9]><script src="//www.nlm.nih.gov/medlineplus/jslib/jquery.placeholder.js" type="text/javascript"></script><![endif]-->
|
||
<script src="https://medlineplus.gov/jslib/control.js" type="text/javascript"></script>
|
||
<script src="https://medlineplus.gov/uswds/js/uswds.min.js" type="text/javascript"></script>
|
||
|
||
|
||
|
||
|
||
|
||
</body>
|
||
</html>
|