Elective genomic sequencing for adults in research, clinical and commercial contexts

The PeopleSeq Study evaluated motivations and concerns of 1575 adults who underwent elective genomic sequencing through 18 different platforms. Of these, 1147 participants (72.8%) completed a questionnaire after receiving their results. A majority of participants (60.3%) reported receiving results they considered important, including negative findings, and 75.9% reported health-related utility. Among participants who shared their reports (19.4%), 16.6% had a monogenic finding. Most participants (74.1%) discussed results with family, but only 41.7% with a healthcare provider and only 23.1% had medical visits as a direct result of testing. Participants were motivated by interest in personal health risk (91.4%) and family medical history (54%). The conclusion shows that most participants learned medically important results, but only a smaller proportion consulted with healthcare providers about their findings.