Dataset Information

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

ABSTRACT:

Purpose

Cardiovascular disease (CVD) is the leading cause of death in adults in the United States, yet the benefits of genetic testing are not universally accepted.

Methods

We developed the "HeartCare" panel of genes associated with CVD, evaluating high-penetrance Mendelian conditions, coronary artery disease (CAD) polygenic risk, LPA gene polymorphisms, and specific pharmacogenetic (PGx) variants. We enrolled 709 individuals from cardiology clinics at Baylor College of Medicine, and samples were analyzed in a CAP/CLIA-certified laboratory. Results were returned to the ordering physician and uploaded to the electronic medical record.

Results

Notably, 32% of patients had a genetic finding with clinical management implications, even after excluding PGx results, including 9% who were molecularly diagnosed with a Mendelian condition. Among surveyed physicians, 84% reported medical management changes based on these results, including specialist referrals, cardiac tests, and medication changes. LPA polymorphisms and high polygenic risk of CAD were found in 20% and 9% of patients, respectively, leading to diet, lifestyle, and other changes. Warfarin and simvastatin pharmacogenetic variants were present in roughly half of the cohort.

Conclusion

Our results support the use of genetic information in routine cardiovascular health management and provide a roadmap for accompanying research.

SUBMITTER: Murdock DR

PROVIDER: S-EPMC8931845 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Publications

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

Murdock David R DR Venner Eric E Muzny Donna M DM Metcalf Ginger A GA Murugan Mullai M Hadley Trevor D TD Chander Varuna V de Vries Paul S PS Jia Xiaoming X Hussain Aliza A Agha Ali M AM Sabo Aniko A Li Shoudong S Meng Qingchang Q Hu Jianhong J Tian Xia X Cohen Michelle M Yi Victoria V Kovar Christie L CL Gingras Marie-Claude MC Korchina Viktoriya V Howard Chad C Riconda Daniel L DL Pereira Stacey S Smith Hadley S HS Huda Zohra A ZA Buentello Alexandria A Marino Patricia R PR Leiber Lee L Balasubramanyam Ashok A Amos Christopher I CI Civitello Andrew B AB Chelu Mihail G MG Maag Ronald R McGuire Amy L AL Boerwinkle Eric E Wehrens Xander H T XHT Ballantyne Christie M CM Gibbs Richard A RA

Genetics in medicine : official journal of the American College of Medical Genetics 20210806 12

<h4>Purpose</h4>Cardiovascular disease (CVD) is the leading cause of death in adults in the United States, yet the benefits of genetic testing are not universally accepted.<h4>Methods</h4>We developed the "HeartCare" panel of genes associated with CVD, evaluating high-penetrance Mendelian conditions, coronary artery disease (CAD) polygenic risk, LPA gene polymorphisms, and specific pharmacogenetic (PGx) variants. We enrolled 709 individuals from cardiology clinics at Baylor College of Medicine, ...[more]

PMID: 34363016

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Project description:As more is understood about the hereditary nature of disease risk, the utility of genetic testing within cardiovascular medicine is increasingly being explored. Although testing may afford more personalized risk stratification, there is a paucity of information regarding patient knowledge, attitudes, and beliefs toward genetic testing among cardiology patients. Participants (n = 530) recruited primarily from a cardiology clinic filled out a 41-item written questionnaire assessing knowledge, beliefs, and attitudes toward genetic testing, motivators and detractors for considering genetic testing, and perceived likelihood for behavior change after hypothetical genetic testing risk stratification. Path analysis was used to test the hypothetical models predicting the likelihood of getting a genetic test and making behavior changes following genetic testing. The patient population was late-middle-aged (59.0 ± 14.5 years), majority women (61.5%), and about half reported having a bachelor's degree. 58.1% of participants self-identified as White, 25.7% as African American or Black, 6.8% as Spanish, Latino, or Hispanic, 3.0% as Asian or Pacific Islander, and 0.5% as Native American. Gender (being a woman) and more years of education were related to greater knowledge about genetic testing. Racial identity and years of education were related to beliefs about genetic testing. Beliefs, but not knowledge, were related to more positive attitudes and a higher likelihood of pursuing genetic testing. Positive attitudes were related to greater perceived personal control (PPC). Furthermore, attitudes and PPC were related to higher likelihood of lifestyle change after genetic testing. These results highlight the need to integrate the experiences of racialized communities into education/counseling efforts. Most educational counseling efforts lack a nuanced discussion of social determinants of health or beliefs. In addition to factual information, educational counseling must also address people's beliefs, concerns, and the intersecting experiences and identities, which shape patients' relationships with the evolving landscape of healthcare and personalized medicine.

Project description:BackgroundGenetic screening for youth with obesity in the absence of syndromic findings has not been part of obesity management. For children with early onset obesity, genetic screening is recommended for those having clinical features of genetic obesity syndromes (including hyperphagia).ObjectivesThe overarching goal of this work is to report the findings and experiences from one pediatric weight management program that implemented targeted sequencing analysis for genes known to cause rare genetic disorders of obesity.Subjects/methodsThis exploratory study evaluated youth tested over an 18-month period using a panel of 40-genes in the melanocortin 4 receptor pathway. Medical records were reviewed for demographic and visit information, including body mass index (BMI) percent of 95th percentile (%BMIp95) and two eating behaviors.ResultsOf 117 subjects: 51.3% were male; 53.8% Hispanic; mean age 10.2 years (SD 3.8); mean %BMIp95 157% (SD 29%). Most subjects were self- or caregiver-reported to have overeating to excess or binge eating (80.3%) and sneaking food or eating in secret (59.0%). Among analyzed genes, 72 subjects (61.5%) had at least one variant reported; 50 (42.7%) had a single variant reported; 22 (18.8%) had 2-4 variants reported; most variants were rare (<0.05% minor allele frequency [MAF]), and of uncertain significance; all variants were heterozygous. Nine subjects (7.7%) had a variant reported as PSCK1 "risk" or MC4R "likely pathogenic"; 39 (33.3%) had a Bardet-Biedl Syndrome (BBS) gene variant (4 with "pathogenic" or "likely pathogenic" variants). Therefore, 9 youth (7.7%) had gene variants previously identified as increasing risk for obesity and 4 youth (3.4%) had BBS carrier status.ConclusionsPanel testing identified rare variants of uncertain significance in most youth tested, and infrequently identified variants previously reported to increase the risk for obesity. Further research in larger cohorts is needed to understand how genetic variants influence the expression of non-syndromic obesity.

Dataset Information

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

Purpose

Methods

Results

Conclusion

Publications

Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.

Similar Datasets

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