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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Genetic Screening of a Reportedly Healthy Populati ...
Genetic Screening of a Reportedly Healthy Population for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer syndrome, and Lynch syndrome
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Pdf Summary
A study conducted by PerkinElmer Genomics aimed to identify individuals in a reportedly healthy population who may have a higher risk for three genetic disorders: hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). Next-generation panel sequencing was performed on 6,871 individuals for 11 specific genes associated with these disorders. The study found that 131 individuals (1.9% of those tested) had diagnostic findings for at least one of these disorders. Of these, 48 were associated with FH, 58 with HBOC, and 28 with LS.<br /><br />The results revealed that diagnostic findings in reportedly healthy populations may be more common than expected. The genetic variants identified in these individuals can inform disease risk and potential response to treatment, leading to better health outcomes. The study also identified individuals with homozygous FH, FH and LS, and FH and HBOC, along with other combinations of genetic variants.<br /><br />The study emphasizes the potential benefits of genetic screening in the general population for early detection and intervention in these disorders. By identifying individuals at increased risk who are currently unaware, morbidity and mortality rates can be reduced. The findings highlight the importance of understanding variant classification and the relationship between genetic variants and disease mechanisms to ensure accurate and appropriate results. The study also recommended increased stringency in variant classification for population studies to account for unclear penetrance and expressivity.<br /><br />Overall, the study demonstrates the potential of genomic testing in improving population health by identifying individuals and families with unrecognized genetic risks for these disorders. The identification of pathogenic and likely pathogenic variants can lead to more targeted prevention and management strategies, ultimately improving outcomes for patients and their families.
Asset Subtitle
Presenting Author - Christin D. Collins, PhD, FACMG; Co-Author - Suresh Shenoy, PhD; Co-Author - Abhinav Mathur, MS; Co-Author - Madhuri Hegde, PhD, FACMG;
Meta Tag
NextGen Sequencing
Population Genetics
Co-Author
Suresh Shenoy, PhD
Co-Author
Abhinav Mathur, MS
Co-Author
Madhuri Hegde, PhD, FACMG
Presenting Author
Christin D. Collins, PhD, FACMG
Keywords
PerkinElmer Genomics
genetic disorders
hereditary breast and ovarian cancer syndrome
Lynch syndrome
familial hypercholesterolemia
next-generation panel sequencing
diagnostic findings
homozygous FH
variant classification
genomic testing
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