From the patient to the population: use of genomics for population screening

Genomic medicine is expanding from a focus on diagnosis at the patient level to prevention at the population level given the ongoing under-ascertainment of high-risk and actionable genetic conditions using current strategies, particularly hereditary breast and ovarian cancer (HBOC), Lynch Syndrome (LS) and familial hypercholesterolemia (FH). The availability of large-scale next-generation sequencing strategies and preventive options for these conditions makes it increasingly feasible to screen pre-symptomatic individuals through public health-based approaches, rather than restricting testing to high-risk groups. This raises anew, and with urgency, questions about the limits of screening as well as the moral authority and capacity to screen for genetic conditions at a population level. We aimed to answer some of these critical questions by using the WHO Wilson and Jungner criteria to guide a synthesis of current evidence on population genomic screening for HBOC, LS, and FH

“Prepared to Live with the Unknown”: Patients’ Experiences with Uncertainty when Making Decisions about Learning Incidental Genomic Sequencing Results

Aim: To explore how adults with a history of cancer perceive, appraise and manage uncertainty when deciding whether or not to learn incidental results (IR) from genomic sequencing (GS). Methods: Semi-structured interviews were conducted with participants after selecting but before receiving IR. Transcripts were analyzed thematically using constant comparison. Results: Fifteen participants were interviewed (12/15 women, on average 56 years old). Participants experience substantial uncertainty related to their cancer, “a grey cloud hanging over my head.” Cancer uncertainty helped participants accept uncertainty related to IR, despite generally disliking uncertainty. Cancer experiences heightened the perceived value of learning predictive health information. Participants anticipated managing IR-related uncertainty through strategies including information seeking, support from healthcare providers, or trying not to focus on uncertainty. Conclusions: Cancer uncertainty fostered tolerance of uncertainty related to IR, and cancer experience heightened the perceived value of IR. These findings could inform genetic counseling for IR.M.Sc