Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project

Casie A Genetti, Talia S Schwartz, Jill O Robinson, Grace E VanNoy, Devan Petersen, Stacey Pereira, Shawn Fayer, Hayley A Peoples, Pankaj B Agrawal, Wendi N Betting, Ingrid A Holm, Amy L McGuire, Susan E Waisbren, Timothy W Yu, Robert C Green, Alan H Beggs, Richard B Parad, BabySeq Project Team, Pankaj B Agrawal, Alan H Beggs, Wendi N Betting, Ozge Ceyhan-Birsoy, Kurt D Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A Frankel, Casie A Genetti, Chet Graham, Robert C Green, Amanda M Gutierrez, Maegan Harden, Ingrid A Holm, Joel B Krier, Matthew S Lebo, Harvey L Levy, Xingquan Lu, Kalotina Machini, Amy L McGuire, Jaclyn B Murry, Medha Naik, Tiffany T Nguyen, Richard B Parad, Hayley A Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L Rehm, Amy Roberts, Jill O Robinson, Serguei Roumiantsev, Talia S Schwartz, Tina K Truong, Grace E VanNoy, Susan E Waisbren, Timothy W Yu, Casie A Genetti, Talia S Schwartz, Jill O Robinson, Grace E VanNoy, Devan Petersen, Stacey Pereira, Shawn Fayer, Hayley A Peoples, Pankaj B Agrawal, Wendi N Betting, Ingrid A Holm, Amy L McGuire, Susan E Waisbren, Timothy W Yu, Robert C Green, Alan H Beggs, Richard B Parad, BabySeq Project Team, Pankaj B Agrawal, Alan H Beggs, Wendi N Betting, Ozge Ceyhan-Birsoy, Kurt D Christensen, Dmitry Dukhovny, Shawn Fayer, Leslie A Frankel, Casie A Genetti, Chet Graham, Robert C Green, Amanda M Gutierrez, Maegan Harden, Ingrid A Holm, Joel B Krier, Matthew S Lebo, Harvey L Levy, Xingquan Lu, Kalotina Machini, Amy L McGuire, Jaclyn B Murry, Medha Naik, Tiffany T Nguyen, Richard B Parad, Hayley A Peoples, Stacey Pereira, Devan Petersen, Uma Ramamurthy, Vivek Ramanathan, Heidi L Rehm, Amy Roberts, Jill O Robinson, Serguei Roumiantsev, Talia S Schwartz, Tina K Truong, Grace E VanNoy, Susan E Waisbren, Timothy W Yu

Abstract

Purpose: Newborn genomic sequencing (nGS) has great potential to improve pediatric care. Parental interest and concerns about genomics are relatively unexplored. Understanding why parents decline research consent for nGS may reveal implementation barriers.

Methods: We evaluated parental interest in a randomized trial of nGS in well-baby and intensive care unit nursery settings. Interested families attended an informational enrollment session (ES) with a genetic counselor prior to consenting. Reason(s) for declining participation and sociodemographic associations were analyzed.

Results: Of 3860 eligible approached families, 10% attended ES, 67% of whom enrolled. Of 1760 families queried for decline reasons, 58% were uninterested in research. Among 499 families considering research, principal reasons for decline prior to ES included burdensome study logistics (48%), feeling overwhelmed postpartum (17%), and lack of interest/discomfort with genetic testing (17%). Decliners after ES more often cited concerns about privacy/insurability (41%) and uncertain/unfavorable results (23%).

Conclusion: Low interest in research and study logistics were major initial barriers to postpartum enrollment and are likely generic to many postpartum research efforts. Concerns over privacy and result implications were most commonly cited in decliners after ES. Understanding parental concerns around research nGS may inform future integration of nGS into newborn screening, predictive testing, and pediatric diagnostics.

Keywords: Consent for genomic testing; Genomic sequencing; Newborn; Newborn screening; Parental concerns.

Conflict of interest statement

Conflicts of Interest:

Dr. Green receives compensation for speaking or consultation from AIA, Helix, and Veritas; and is co-founder, advisor and equity holder in Genome Medical, Inc.

All other authors disclose no conflicts of interest.

Figures

Figure 1:
Figure 1:
Flow diagram of study enrollment and decline (May 2015 – March 2017). WBN = Well baby nursery cohort. ICU = Intensive care unit cohort.
Figure 2:
Figure 2:
Reasons for declining study enrollment reported by the Reason for Decline Cohort (RDC): a. Percent of subjects identified as “Not interested in Research”, “Specific Reason Provided” (see Figure 2b) or “No Reason Obtained” category of reason for decline. b. Specific reasons for decline provided by families who were potentially willing to participate in research. Families could provide multiple reasons for decline. GS = Genomic sequencing
Figure 3:
Figure 3:
Reasons for declining study enrollment reported by the Reason for Decline Cohort (RDC) a. comparison of reasons from families declining PRE vs. POST an enrollment session. b. comparison of reasons from families with babies in the well baby nursery (WBN) vs. intensive care unit (ICU). GS = Genomic sequencing

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Source: PubMed

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