How does personal utility depend on clinical setting? Evidence from 3 cohorts

Evidence of personal utility of genetic testing is critical to clinical care, funding, and policy decisions. We aimed to understand how patient-oriented values and preferences for genetic testing vary across clinical settings to inform the development of a personal utility index.

Participants were recruited from 3 clinical settings: pediatric clinical genetics, pediatric oncology, and prenatal care. For each cohort, a preliminary set of domains and elements of utility were generated from the literature. Semi-structured interviews were conducted with parents to understand the meaning of personal utility and relevance of preliminary domains and elements. Deductive coding identified shared and unique elements of utility across cohorts.

A total of 63 parents were interviewed. Personal utility domains that resonated with participants included cognitive, medical management, affective, behavioral, and social. Common elements included increased understanding about the cause of their child's condition and contributing to scientific knowledge. Unique elements were identified in each cohort: identifying support services in clinical genetics, understanding cancer risks in oncology, and pregnancy decision making in prenatal care.

We identified shared and unique elements of personal utility across cohorts from 3 clinical settings, suggesting the need to tailor utility assessment to the clinical setting and patient population.