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<span>What does it mean to have a genetic predisposition to a disease?</span>
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<h1>What does it mean to have a genetic predisposition to a disease?</h1>
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<section><div class="mp-content"><p>A genetic predisposition (sometimes also called genetic susceptibility) is an increased likelihood of developing a particular disease based on a person's genetic makeup. A genetic predisposition results from specific genetic variations that are often inherited from a parent. These genetic changes contribute to the development of a disease but do not directly cause it. Some people with a predisposing genetic variation will never get the disease while others will, even within the same family.</p>
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<p>Genetic variations can have large or small effects on the likelihood of developing a particular disease. For example, certain variants (also called mutations) in the <a href="https://medlineplus.gov/genetics/gene/brca1/"><em>BRCA1</em></a> or <a href="https://medlineplus.gov/genetics/gene/brca2/"><em>BRCA2</em></a> genes greatly increase a person's risk of developing <a href="https://medlineplus.gov/genetics/condition/breast-cancer/">breast cancer</a> and <a href="https://medlineplus.gov/genetics/condition/ovarian-cancer/">ovarian cancer</a>. Particular variations in other genes, such as <em>BARD1 </em>and <em>BRIP1, </em>appear to have a much smaller impact on a person's breast cancer risk.</p>
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<p>Current research is focused on identifying genetic changes that have a small effect on disease risk but are common in the general population. Although each of these variations only slightly increases a person's risk, having changes in several different genes may combine to increase disease risk significantly. Changes in many genes, each with a small effect, may underlie susceptibility to many common diseases, including cancer, obesity, diabetes, heart disease, and mental illness. Researchers are working to calculate an individual’s estimated risk for developing a common disease based on the combination of variants in many genes across their genome. This measure, known as the polygenic risk score, is expected to help guide healthcare decisions in the future.</p>
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<p>In people with a genetic predisposition, the risk of disease can depend on multiple factors in addition to an identified genetic change. These include other genetic factors (sometimes called modifiers) as well as lifestyle and environmental factors. Diseases that are caused by a combination of factors are described as <a href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/complexdisorders/">multifactorial</a>. Although a person's genetic makeup cannot be altered, some lifestyle and environmental modifications (such as having more frequent disease screenings and maintaining a healthy weight) may be able to reduce disease risk in people with a genetic predisposition.</p></div>
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<h2>For more information about genetic predisposition to disease:</h2>
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<p>The Genetic Science Learning Center at the University of Utah provides more information about <a href="https://learn.genetics.utah.edu/content/history/geneticrisk/" target="_blank">calculating the risk of genetic diseases and predicting disease based on family history</a>.</p>
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<p>More detailed information about <a href="https://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq" target="_blank">the genetics of breast and ovarian cancer</a>, as well as <a href="https://www.cancer.gov/publications/pdq/information-summaries/genetics" target="_blank">other cancers</a>, is available from the National Cancer Institute.<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>
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<p>The National Human Genome Research Institute explains the calculation of <a href="https://www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scores" target="_blank">polygenic risk scores</a> and what information the scores can provide.<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"/>
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<section><div class="mp-exp mp-content"><h2>Topics in the Variants and Health chapter</h2>
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<ul><li><a data-pid="20117" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/genemutation/">What is a gene variant and how do variants occur?</a></li><li><a data-pid="20119" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mutationscausedisease/">How can gene variants affect health and development?</a></li><li><a data-pid="20121" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/neutralmutations/">Do all gene variants affect health and development?</a></li><li><a data-pid="20123" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/possiblemutations/">What kinds of gene variants are possible?</a></li><li><a data-pid="20125" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/copynumbervariation/">Can a change in the number of genes affect health and development?</a></li><li><a data-pid="20127" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/chromosomalconditions/">Can changes in the number of chromosomes affect health and development?</a></li><li><a data-pid="20129" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/structuralchanges/">Can changes in the structure of chromosomes affect health and development?</a></li><li><a data-pid="20131" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/noncondingdnahealth/">Can changes in noncoding DNA affect health and development?</a></li><li><a data-pid="20133" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/mitochondrialconditions/">Can changes in mitochondrial DNA affect health and development?</a></li><li><a data-pid="20135" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/complexdisorders/">What are complex or multifactorial disorders?</a></li><li>What does it mean to have a genetic predisposition to a disease?</li><li><a data-pid="20139" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/evolution/">How are gene variants involved in evolution?</a></li><li><a data-pid="20141" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/statistics/">What information can statistics provide about a genetic condition?</a></li><li><a data-pid="20143" href="https://medlineplus.gov/genetics/understanding/mutationsanddisorders/naming/">How are genetic conditions and genes named?</a></li></ul>
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<p><a data-pid="20081" href="https://medlineplus.gov/genetics/understanding/">Other chapters in Help Me Understand Genetics</a></p></div>
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