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BACKGROUND: When parents of newborns are presented with the hypothetical possibility of obtaining genomic sequencing (GS) for their newborn infants immediately after birth, they express substantial interest. This study examined associations between expressed interest in GS and demographic and psychosocial variables some months after birth. METHODS: A total of 1096 parents were enrolled in a study on GS of newborns shortly after the birth of their infants, before discharge from the postpartum floor. Of these parents, 663 (60.5%) completed a follow-up survey 2 to 28 months later that queried their interest in GS for their infant and whether they received worrisome health information during pregnancy, labor, and delivery. They were also administered the Parenting Stress Index. Multivariate logistic regression was used to examine factors associated with interest in GS of newborns. RESULTS: Of parents, 76.1% indicated at least some interest in GS. A 10-point increase on the Parenting Stress Index was associated with an increase in the odds of having some interest in GS (odds ratio: 1.15; 95% confidence interval: 1.01–1.32). Age, gender, race, ethnicity, marital status, education, anxiety, and whether this was the first biological child were not significantly associated with interest in GS. Receiving worrisome health information was associated with greater interest in GS but this did not reach significance (odds ratio: 1.42; 95% confidence interval: 0.95–2.12). CONCLUSIONS: This hypothetical survey study suggests that previous experiences leading to worrisome health information and parenting stress need to be considered when GS is offered. Additional research, currently underway, is exploring factors associated with real-life parental choices around whether to obtain GS of their newborns.

An increasing number of individuals are being recruited to whole genome sequencing (WGS) research. When asked hypothetically, the majority of the public express willingness to participate in this type of research, yet little is known about how many individuals will actually consent to research participation or what they perceive the risks to be. The MedSeq Project is a clinical trial exploring WGS in clinical care. We documented primary reason(s) for declining participation and reviewed audio-recorded informed consent sessions to identify participants’ concerns. Of 514 individuals recruited, 173 (34%) actively declined, 205 (40%) enrolled, and the remaining 136 (26%) were ineligible, unresponsive or waitlisted. Although the majority of active decliners cited logistical barriers, 40% cited risks related to the ethical, legal, and social implications (ELSI) of WGS research. Participants similarly discussed ELSI-related concerns but felt the potential benefits of participation outweighed the risks. Findings provide insight into the perspectives of potential WGS research participants and identify potential barriers to participation.

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.