172 - Parental Perceptions Surrounding Rapid Whole Genome Sequencing in the Neonatal Intensive Care Unit

Saturday, April 29, 2023

3:30 PM – 6:00 PM ET

Poster Number: 172
Publication Number: 172.218

Rachel Levy, Primary Children's Hospital, Salt Lake City, UT, United States; Sabrina Malone Jenkins, University of Utah, Salt Lake City, UT, United States; Rachel Palmquist, University of Utah School of Medicine, Salt Lake City, UT, United States; Chelsea Solorzano, University of Utah, Salt Lake City, UT, United States; Joshua L.. Bonkowsky, Primary Children's Hospital; University of Utah, Salt Lake City, UT, United States; Carrie Torr, University of Utah School of Medicine, Salt Lake City, UT, United States

Presenting Author(s)

Rachel Levy, MD (she/her/hers)

Pediatrics Resident
Primary Children's Hospital
Salt Lake City, Utah, United States

Background: The clinical utility of rapid whole genome sequencing (rGS) is increasing as clinicians use testing to provide specific answers reducing delays in diagnosis and treatment. With the increased availability of rGS, there are concerns about limitations in parents’ understanding of consent and their perceptions surrounding rGS.

Objective: Examine perceptions of informed consent, parental decisional conflict, and regret while undergoing research rGS for their infants in the neonatal intensive care unit (NICU).

Design/Methods:

This is an observational cohort study of parents recruited from the Utah NeoSeq Project, a rGS study protocol at the University of Utah level III NICU. Parents were approached after deciding to participate in the research rGS and invited to participate in a two-part survey. The first survey was performed after consent and before results. It evaluated attitudes towards the consenting process, perceptions of genomic testing, and decisional conflict using the SURE testing method. The second survey was performed after return of results and assessed perceptions of results and regret using the decisional regret scale (0 indicating no regret and 100 indicating high regret). This study is IRB-approved.

Results:

49 of the 62 participants (80%) completed both surveys. With 90% (44/49) of participants stating the consent process was helpful, 71% (35/49) identified speaking with a provider with genetic expertise as the most helpful part of the process. Most participants were able to appropriately identify the risks and benefits of undergoing testing, and all but 2 participants believed that testing was explained in a way they understood. Four participants (8%) experienced clinically significant decisional conflict, with three going on to experience some level of decisional regret (range 5-50). The family with the highest decisional regret received a negative rGS result and felt the test did not benefit them because “they did not receive an answer.” Most parents reported little to no regret (median score 0, range 0-50) after return of results.

Conclusion(s):

The majority of parents reported the consent process was helpful and informative. Parents experienced minimal decisional conflict and regret surrounding research rGS. These results help to inform a standardized approach for informed consent and highlight the importance of genetic knowledgeable providers in the rGS consent process. Next, we plan to assess if perceptions differ among parents that undergo research vs. clinical rGS.