From Person-Centered to Family-Centered: Navigating Practical and Ethical Issues in Health System-Led Contact for Cascade Screening

Efforts to measure the population-level clinical utility of genomic medicine have been slow to follow advancements in genomic science. This is partly because most economic, psychosocial, and health outcomes of genomics are measured at an individual level, despite a longstanding recognition that the benefits of these services are also experienced by families. Current ethical and policy guidance support this status quo.
Cascade screening is a method of identifying and notifying individuals who may be unknowingly affected (or at risk of) developing a genetic condition diagnosed in one of their relatives. When performed effectively, cascade screening can result in diagnoses at earlier stages of disease, allowing prevention and treatments to be administered when they have the chance of being most effective. Yet evidence suggests that the default cascade screening approach in the US, patient-mediated contact, is associated with sub-optimal outcomes. Recent ELSI scholarship challenges the patient-mediated approach by modeling clinical utility at the level of the family and investigating practical and legal pathways for healthcare and public health professionals to directly contact potentially affected relatives to inform them of their risk (referred to hereafter as “system-led contact”). This work invites a reassessment of normative frameworks used to evaluate the appropriateness and scope of health system involvement in cascade screening.
This moderated panel presentation will include experts from the fields of genetic counseling, health services research, patient advocacy, and bioethics to present evidence and conceptual work supporting the claim that systems-led contact of relatives is effective and can be ethically desirable under specific conditions. Speaker 1 will open the session with an overview of the growing evidence about patient and provider attitudes towards system-led contact and will discuss the normative implications of these findings. Speaker 2 will provide an in-depth view of a cascade screening program that used person-centered design to successfully implement system-led contact. Speaker 3 will present a normative justification of system-led contact, including a proposed method for distinguishing which conditions this approach is ethically appropriate for. By bringing together disparate perspectives on this issue, we hope to break the argumentative gridlock that portrays the ethical debate about cascade screening as a zero-sum tradeoff between individual confidentiality and benefits to families.

Authors: Leila Jamal, National Institutes of Health; Katherine Bonini, Icahn; Nora B. Henrikson, Kaiser Permanente Washington; Emily Bonkowski, University of Washington