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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Rates of cardiomyopathy in probands and their fami ...
Rates of cardiomyopathy in probands and their family members from a large, unselected healthcare cohort
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Pdf Summary
The study analyzed data from 266 adults participating in the MyCode research biobank at Geisinger, who had pathogenic or likely pathogenic (P/LP) variants in hypertrophic cardiomyopathy (HCM) genes. The participants' demographic information and cardiomyopathy-related diagnoses were extracted from the Geisinger electronic health record (EHR). Three-generation pedigrees were obtained through genetic counseling appointments or phone calls, and patient-reported family history data were collected.<br /><br />Key findings of the study include:<br /><br />- Over 4,000 genomic results have been returned to MyCode participants, with more than 750 results associated with a risk for cardiomyopathy.<br />- Disease risk for individuals with P/LP variants in HCM genes is estimated to be 38-54%.<br />- The study found that the penetrance of HCM in individuals identified through population-based genomic screening may be lower than previously estimated.<br />- Current clinical management recommendations for HCM based on clinically ascertained cohorts may overestimate the risk of disease in patients and their families.<br /><br />The study also provided information on the frequency of cardiomyopathy in the participants and their relatives. The most common gene with P/LP variants was MYBPC3, followed by MYH7. The study found that 58.6% of participants with MYBPC3 variants had a personal history of cardiomyopathy. The frequency of cardiomyopathy in relatives varied depending on the gene variant.<br /><br />The study concludes that individuals identified through population-based genomic screening may have a lower risk for HCM compared to clinically ascertained cohorts. It suggests that current management recommendations may need to be revised to better reflect the actual risk of disease in these individuals and their families.<br /><br />Overall, the study highlights the importance of population-based genomic screening in understanding the true prevalence and risk of genetic conditions like HCM in the general population.
Asset Subtitle
Presenting Author - Kristy DiLoreto, MS; Co-Author - Juliann M. Savatt, MS, CGC; Co-Author - Amie Decker, BS; Co-Author - Megan Betts, MS, CGC; Co-Author - Kristen D. Yu, MS; Co-Author - Melissa A. Kelly, MS, CGC;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Clinical History
Phenotype
Population Genetics
Co-Author
Juliann M. Savatt, MS, CGC
Co-Author
Amie Decker, BS
Co-Author
Megan Betts, MS, CGC
Co-Author
Kristen D. Yu, MS
Co-Author
Melissa A. Kelly, MS, CGC
Presenting Author
Kristy DiLoreto, MS
Keywords
study
pathogenic variants
hypertrophic cardiomyopathy
genetic counseling
family history data
cardiomyopathy risk
clinical management recommendations
MYBPC3 variant
MYH7 variant
population-based genomic screening
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