The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results
| Autor: | Jyoti Gupta, Maya S. Safarova, Yunyun Jiang, Sara Snipes, Christopher G. Chute, Stephen N. Thibodeau, Erica Smith, Joel E. Pacyna, Sheethal Jose, Carmen Radecki Breitkopf, Richard R. Sharp, Gabriel Q. Shaibi, Maraisha Philogene, Erin M. Winkler, David C. Kochan, Xiao Fan, Meaghan Carney, Janet E. Olson, Robert R. Freimuth, Merin Jose, Eric Venner, Magdi Zordok, Pedro J. Caraballo, Iftikhar J. Kullo, Mullai Murugan, Noralane M. Lindor, Medhat Farwati |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male medicine.medical_specialty Colon MEDLINE Single-nucleotide polymorphism Hyperlipidemias Disease 030105 genetics & heredity Clinical decision support system Polymorphism Single Nucleotide Article Cohort Studies 03 medical and health sciences Polyps Surveys and Questionnaires Health care Outcome Assessment Health Care Medicine Humans Genetic Predisposition to Disease Genetic Testing business.industry General Medicine Genomics Middle Aged Penetrance 030104 developmental biology Phenotype Cardiovascular Diseases Family medicine Female business Psychosocial Cohort study |
| Zdroj: | Mayo Clinic proceedings |
| ISSN: | 1942-5546 0025-6196 |
| Popis: | Objectives: To identify clinically actionable genetic variants from targeted sequencing of 68 disease-related genes, estimate their penetrance, and assess the impact of disclosing results to participants and providers. Patients and Methods: The Return of Actionable Variants Empirical (RAVE) Study investigates outcomes following the return of pathogenic/likely pathogenic (P/LP) variants in 68 disease-related genes. The study was initiated in December 2016 and is ongoing. Targeted sequencing was performed in 2533 individuals with hyperlipidemia or colon polyps. The electronic health records (EHRs) of participants carrying P/LP variants in 36 cardiovascular disease (CVD) genes were manually reviewed to ascertain the presence of relevant traits. Clinical outcomes, health care utilization, family communication, and ethical and psychosocial implications of disclosure of genomic results are being assessed by surveys, telephone interviews, and EHR review. Results: Of 29,208 variants in the 68 genes, 1915 were rare (frequency |
| Databáze: | OpenAIRE |
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