Penn Bioethics Seminar | Moira Kyweluk, PhD, MPH

Testing “everyone for everything”: Ethical issues in expanded carrier screening

Using a basic saliva or blood sample, pregnant women or women intending to conceive are increasingly undergoing screening for serious, prevalent, and clinically-actionable recessive genetic conditions that could affect future offspring. The rapid expansion of inexpensive genetic sequencing technologies now allows screening for over 300+ conditions, some of which are extremely rare. In contrast to traditional carrier screening, which focuses on specific traits based on race/region or origin/ethnicity (e.g., screening for Tay Sachs in individuals of Ashkenazi Jewish and/or French Cajun ancestry) expanded carrier screening (ECS) tests “everyone for everything” without differentiating by patient origins or identity. Through qualitative interviewing and clinical observation, this project gathers empirical data on the experiences of patients, providers, and genetic counselors navigating ECS. The goal is to better understand the public health implications, interpersonal decisions, and ethical issues that this testing opens. This talk will present preliminary fieldwork from the pilot project at Penn Fertility Care, where patients are routinely screened using a commercially available product, the Foresight Carrier Screen (Myriad Labs). I will present the future directions of the project and consider some of the ethical and policy issues coming to light through these diagnostic services.  

Moira Kyweluk, PhD, MPH
Fellow, Medical Ethics and Health Policy
University of Pennsylvania