Dwellers on the Threshold: Transformative Experience and the Limits of Informed Consent in Genetic Counseling

Abstract Genetic counseling has long relied on the principles of non-directiveness and patient autonomy, yet these ideals become strained when patients face decisions that will fundamentally alter their identities and values. Such decisions, known as transformative experiences, challenge the basic assumptions underlying informed consent: patients cannot predict what the experience will be like or who they will become afterward. This essay argues that the transformative experience framework exposes the inherent epistemic limits in traditional models of autonomy and informed consent within genetic counseling. By examining the evolving historical trajectory of non-directiveness and analyzing two clinical cases—prenatal decision-making after a Down syndrome diagnosis and predictive testing for Huntington disease—the essay demonstrates why counselors cannot fully preserve neutrality or facilitate value-aligned decision-making in these contexts. The incorporation of a transformative experience framework provides a more realistic and ethically coherent basis for supporting patients, enhancing decisional authorship, and potentially reduces regret. Reframing non-directiveness as an embedded, relational process rather than an isolated ideal offers a more philosophically honest and clinically useful foundation for modern genetic counseling practice.