ETHICAL &SOCIAL IMPLICATIONS OF GENETIC TESTING IN THE CASE OF UNEXPECTED DEATHS

DESCRIPTION (provided by applicant): Broad Challenge Area 02: Bioethics Specific Challenge Topic 02-OD (OSP) - 104: Ethical Issues In The Translation Of Genetic Knowledge To Clinical Practice. The proposed project seeks to explore ethical and social issues that arise in the translation of genetic knowledge to clinical practice in the area of cardiogenetics. Emerging molecular genetic research in conjunction with forensic investigation of sudden unexpected death in adults (SUDS) or infants (SIDS) is identifying mutations in cardiac channels causing long QT syndrome which can explain some of these previously unexplained and unexpected deaths. This genetic knowledge, discovered posthumously in many cases, has implications for clinical care for surviving family members who might carry the same mutations and would benefit from lifesaving interventions such as lifestyle changes, medications, and medical devices. However, the transfer of this genetic knowledge to clinical care raises important ethical and social issues that must be considered in order to successfully implement such care models and ultimately achieve the health benefits possible through this example of personalized genomic medicine. In this proposal, we bring together a multidisciplinary team of clinical and social science investigators from the Albert Einstein College of Medicine, the Center for Ethics, and the Ferkauf Graduate School of Psychology, all at Yeshiva University. Our project seeks to explore ethical and social challenges in the translation of genetic knowledge to clinical practice in cardiogenetics by 1) reviewing the literature to identify key issues;2) convening an expert advisory committee to offer expert opinion;and 3) soliciting input from affected families via focus groups. With these three sources of information, the project team will synthesize key concepts and develop recommendations, guidelines and tools. SPECIFIC AIMS The specific aims of this project are: 1) To evaluate and systematize ethical and social issues associated with investigation of sudden infant death syndrome (SIDS) and sudden unexplained death syndrome (SUDS) that reveals a molecular cardiogenetic cause with implications for clinical care for surviving family members such as: a) sharing genetic information within families specifically when one family member is deceased b) performing genetic testing on children c) explaining a previously unexplained death in a family 2) To analyze tensions and conflicts that might arise from the transfer of genetic knowledge to clinical practice in cardiogenetics including: a) fatalism versus empowerment for surviving family members b) communication to families by forensics professionals versus clinicians c) considerations for informed consent for research versus clinical care 3) To develop recommendations, guidelines and tools specifically for use by multidisciplinary cardiogenetics centers and more generally for disease-specific centers offering personalized genomic medicine, and to disseminate these through a series of articles and conference presentations. Few tragedies have more impact on families and society than the sudden unexpected death of a loved one. Each year in the United States, approximately 4,000 people under the age of 35 die suddenly due to a previously undiagnosed and unanticipated disturbance in heart rhythm. For families, the tragedy is intensified because in at least 1/3 of cases, an inherited genetic disorder in cardiac channel proteins caused the unexpected death. In these families, the possibility exists that the children, grandchildren, siblings and parents of the affected individual may suffer a similar fate. More recently, however, because of advances in our understanding of the genetic etiology of these conditions coupled with the development of interventions such as implantable cardiac defibrillators, testing that will identify the genetic basis of the condition can be performed, and personalized, life-saving treatment for those at-risk can be offered. At the Montefiore-Einstein Center for Cardiogenetics, we are offering state-of-the-art testing and intervention to families that have experienced a sudden unexpected death (SIDS in an infant, SUDS in an older individual) through a collaborative effort bringing together clinicians and researchers. This research project will examine the ethical, legal and social issues that arise in the translation of such genetic knowledge to clinical care in the area of cardiogenetics based on input from expert advisors and affected families. This multidisciplinary approach will provide new insights into the ethical, legal and social issues that accompany advances in translational medicine.