Translating Cardiogenetic Knowledge to Clinical Practice in the Case of Unexpected Deaths: What are the Ethical, Legal and Social Implications in the Context of Public Health?

Recent advances in the use of molecular genetic screening and epidemiology have expanded the field of public health genomics, both in disease risk assessment as well as prevention programs for individuals and populations. Genetics has strong ethical, legal, and social (ELSI) implications, as evidenced in the area of cardiogenetics. Molecular genetic technology is currently used in forensic investigations to detect mutations in cardiac ion channels causing long QT syndrome, which can explain a previously sudden unexplained death in an adult (SUDS) or infant (SIDS). Results from this genetic testing have ethical, legal and social implications for the clinical care of surviving family members who may benefit from lifesaving personalized medical and lifestyle recommendations. The Montefiore-Einstein Center for Cardiogenetics (MECC) in the Bronx, NY, is spearheading this effort, utilizing an interdisciplinary team including pediatric and adult cardiologists, medical geneticists, a genetic counselor, psychologists and an ethicist to deliver quality interdisciplinary clinical care. Using interviews and focus groups with families, patients' attitudes towards personalized genomic medicine are revealed. The preliminary results from our qualitative research cover the following themes: comprehension and meaning of disease and genetic testing, timing of disclosure, disclosure of genetic information within families, communication during a time of bereavement, and health implications for surviving family members. The results from this interdisciplinary model provide a framework for using clinical, genetic, and family history to personalize preventive health strategies and hopefully will improve public health research, policy, and programs.