The Recommendation Paradox: Perspectives on Genetic Testing in Huntington's Disease Families

Huntington's disease (HD) families face complex decisions about predictive genetic testing and reproductive options, including preimplantation genetic testing (PGT), and particularly PGT for Monogenic Disorders (PGT-M). We examined attitudes toward genetic testing and reproductive options across affected groups within HD families (e.g., people with HD, spouse/caregivers, and at-risk family members), in a healthcare system with full funding for genetic services. We conducted semi-structured interviews with 51 participants (17 people with HD, 20 at-risk relatives, 14 spouses/partners), recruited from the National HD Clinic in Tel Aviv, Israel. Framework Analysis was employed to enable systematic comparison across groups. Three themes emerged from the analysis: "Surprised by HD" revealed that family members were often unaware of genetic risk despite predictable inheritance, reflecting patterns of nondisclosure and misdiagnosis; "Truth or luck" captured divergent attitudes toward predictive testing, with some participants advocating for early knowledge while others emphasized the psychological burden of knowing in the absence of a cure. Together, these themes formed the context for a central finding: "The recommendation paradox", a striking pattern where individuals who avoided or regretted personal predictive testing nonetheless strongly endorsed reproductive options for offspring, a tension that manifested differently across groups depending on their relationship to HD. The recommendation paradox reveals ethical tensions between reproductive autonomy and emerging expectations of genetic responsibility. This pattern persists even when economic barriers are removed, demonstrating that psychological factors remain primary determinants of testing uptake. Genetic counseling should explicitly address divergent attitudes toward personal versus offspring testing, recognizing that support for prevention does not necessarily indicate readiness for personal testing.