A Normative Justification for Health-System Led Notification of Relatives Eligible for Cascade Genetic Testing
Thursday, October 12, 2023
8:15 AM – 9:30 AM ET
Location: Essex C (Fourth Floor)
Efforts to demonstrate the population-level utility of genomics have been slow to follow advancements in science. Although it has long been argued that the family is an important unit of significance in genomics, practically and legally speaking it has been challenging for providers to act on this. This is most apparent in how clinics typically approach cascade testing, the process of notifying and offering genetic testing to at-risk relatives of a patient with a well-characterized and actionable hereditary condition. The most common notification approach is patient-directed contact, which is associated with sub-optimal outcomes. Recent research challenges this approach by modeling clinical utility at the level of the family and investigating practical, logistical, and legal pathways for direct contact of relatives eligible for cascade screening. This evidence base invites us to revisit normative questions about the appropriate scope of health system involvement in notifying a patient’s family members about their potentially elevated risk of actionable diseases, including how to solicit relatives’ preferences for learning (or not learning) about their potentially increased risk. In this presentation, we review evidence demonstrating that health-system led direct contact of relatives is feasible and acceptable to providers, patients, and their relatives. We argue that such programs are ethically justified IF they are carefully designed and implemented for conditions that meet specific criteria. Beyond this, we will make the case that such programs are necessary to realize the full population utility of genomic medicine in an equitable fashion.
Benjamin Berkman, JD, MPH – Bioethics Department – NIH; Kate Bonini, MS, MA – Genetic Counselor, Institute for Genomic Health, Mount Sinai Icahn School of Medicine; Hadley Smith, PhD, MSPA – Division of Child Health Research and Policy (CHeRP) Precision Medicine Translational Research (PROMoTeR) Center – Harvard Medical School and Harvard Pilgrim Health Institute