BME80G Seminar – Katherine Bonini, “Rethinking Familial Risk in Genomic Medicine: Ethical Approaches to Cascade Screening”
Presenter: Katherine Bonini, Senior Genetic Counselor @ Icahn School of Medicine at Mount Sinai
Description: It has long been argued that families are central to genomic medicine. Genomic risk, diagnosis, and management are rarely confined to a single individual, and separating patients’ interests from those of their relatives is often neither straightforward nor desirable. Despite this, healthcare systems in the United States continue to operationalize care at the level of the individual. This tension is especially evident in cascade screening, the process of identifying, notifying, and offering genetic testing to relatives of a proband with a hereditary condition. Cascade screening can enable earlier diagnosis, guide preventive care, and reduce morbidity and mortality, but its implementation raises important ethical questions.
In this talk, we will examine how current approaches to familial risk communication place responsibility on patients to notify relatives, often resulting in incomplete reach and missed opportunities for prevention. We will then consider alternative approaches, including system-led contact models in which health systems directly notify at-risk relatives with proband consent. Drawing on public health ethics frameworks, we will discuss a proposed framework demonstrating how system-led models may be ethically justified when specific criteria are met, including considerations of public input, opt-out mechanisms, and a focus on actionable conditions. This talk will encourage consideration of how genomic care can be structured to better balance individual rights with broader responsibilities to families and public health.
Bio: Katherine (Kate) Bonini, MS, MA, CGC is a Senior Genetic Counselor and Core Faculty member in the Institute for Genomic Health at the Icahn School of Medicine at Mount Sinai. Her work focuses on the ethical, legal, and social implications of integrating emerging genomic technologies into clinical care, with particular emphasis on implementation science and equitable translation of genomic advances into practice. She has contributed to several major NHGRI-funded initiatives, including the Clinical Sequencing Evidence-Generating Research (CSER) Consortium, the Electronic Medical Records and Genomics (eMERGE) Network, and the Human Pangenome Reference Consortium (HPRC).
Kate is an active leader within the National Society of Genetic Counselors, where she previously served as Chair of the Research Special Interest Group and Chair of the Public Policy Committee. She is also a member of the Mount Sinai Clinical Ethics Committee, where she contributes to institutional discussions on complex ethical issues in patient care and research.
She received her MS in Genetic Counseling and MA in Medical Humanities and Bioethics from Northwestern University’s Feinberg School of Medicine.
Hosted by: Professor Karen Miga, BME Department