Introduction:
There are several ongoing large clinical trials for genome sequencing (GS) for newborn screening (NBS). To scale to the necessary size for public health impact, these programs should consider multimodal methods of patient engagement, education, and consent. The BeginNGS study is an ongoing trial of a GS-based NBS which screens for 412 childhood-onset medically actionable genetic diseases. Nest is a comprehensive, HIPAA-compliant software platform that provides a scalable solution for integrating genomic services into patient care from patient education and consent to long-term management.

Methods:
Potential participants are invited to participate in the study through a text/email message or communication via the electronic health record. The Nest Patient Navigator provides tailored pretest education, records study consent, administers patient and provider surveys, and facilitates negative results return to the participant. A personalized patient navigator is available to participants which stores genetic testing reports and provides ongoing resources to help participants understand and act on their genetic information. All participants undergoing virtual Nest consent had the option of additional counseling from trained research staff. All study materials were reviewed and approved by an Institutional Review Board. Knowledge was assessed with a modified version of a validated survey tool, the UNC Genomic Knowledge Scale. Participant knowledge was assessed following 1) typical education and enrollment from trained research personnel using paper consent and 2) education and consent using our virtual enrollment platform.

Results:
There were 30 participants enrolled with paper consent and trained research personnel and 46 participants enrolled with the virtual platform. With in-person consent, an average of 0.6 (6%) responses to UNC-GKS questions were incorrect and 2.6 (27%) responses were "not sure/I don't know" per participant and the enrollment rate was 21%. With virtual education and consent, 180 eligible participants were invited to the study through an email, text, or MyChart message. The message invited them to click a link to learn more about the BeginNGS study and had the option to consent. Forty-six enrolled (26%). Of those enrolled, 43% (19) enrolled from the virtual link alone, 27% (12) required a follow up phone call with a research assistant, 25% (11) needed a phone call and in person follow up, and 5% (2) requested an in-person consent.

 

For those enrolled with the virtual platform, an average of 0.52 (5%) responses to UNC-GKS questions were incorrect and 2.4 (18%) responses were "not sure/I don't know" per participant. A chi-square analysis of the correct and incorrect answers by category of enrollment was not statistically different (p=0.41). There were no noted differences in language of consent, level of education, or type of health insurance. Seventy-eight percent (36/46) of participants completing the virtual education and consent responded with either “agree” or “strongly agree” to the question “I am adequately informed about the issues important to my decision to have my child receive the BeginNGS test.”

Conclusion:
Digital participant education and enrollment reduced study staff time per enrollment in the BeginNGS trial. Furthermore, participant satisfaction and genomic knowledge assessment by in person enrollment versus digital genomics platform are comparable. Virtual enrollees showed no decrease in knowledge and findings lean towards more correct answers with less uncertainty. Virtual education and consent in the NICU is acceptable to our participants and did not lead to decreased understanding of complex topics in pediatric genomic screening.