The BabySeq Project: Genome Sequencing for Childhood Risk and Newborn Illness Sarah Kalia, ScM, CGC Brigham and Women’s Hospital Harvard Medical School Project Leadership : Peter J. Park, PhD; Heidi L. Rehm, PhD; Tim W. Yu, MD, PhD; Pankaj B. Agrawal, MD, MMSC; Richard B. Parad, MD, MPH; Ingrid A. Holm, MD, MPH; Amy L. McGuire, JD, PhD; Alan H. Beggs, PhD; Robert C. Green, MD, MPH
Pilot Survey Protocol ¡ (N = 1309) ¡ Approach parents within 72 hours of delivery Consent parent(s) and randomize family unit to baseline survey (N = 514) (N = 582) • Demographics • Demographics • Consent to re-contact • Consent to re-contact • Genetics orientation • Interest in genome screening 3-24 months (N > 605) Genetics orientation and randomize to follow-up survey with or without mock genomic results
Parental Interest in the Hospital How interested would you be in getting 100% genome screening for your baby? 90% 80% (N = 514) 70% 60% 50% 37% 40% 28% 30% 18% 11% 20% 6% 10% 0% Not at all A little Somewhat Very Extremely
Demographics and Associations with Parental Interest at Baseline
Concordance Analysis • 168 couples (among 514 parents) rated their interest in newborn genome screening • 127 couples (76%) reported similar levels of interest • 41 couples (24%) were discordant in their views – Concordance more likely if the couple was married (OR: 2.85, p=0.012)
Limitations • Participants rated their hypothetical interest. Actual uptake was not measured. • Mothers and fathers queried around the same time, perhaps influencing responses • Increased anxiety or confusion about NBS was not tracked
The BabySeq Project (U19 HD077671) • First randomized trial to explore benefits and risks of genome sequencing (GS) in healthy and sick newborns • 240 healthy newborns • 240 NICU newborns • Parents and physicians • Timeline: 2013-2018
BabySeq Project Overview Pre-Enrollment Genetic Counseling, Consent, Blood Draw, Family History with Genetic Counselor Outcomes collected. Study Physicians and GCs available for 240 Newborns in NICU at BCH and Parents 240 Healthy Newborns at BWH and Parents questions from parents, NICU MDs and outside MDs • Standard of Care NBS • Standard of Care NBS • Standard of Care NBS • Standard of Care NBS • Family History • Family History • Family History • Family History • Genome Report • Genome Report Optional: • Indication-Based Report Consultation and Results Disclosure with Genetic Counselor and Study Physician. Consultation Note and Testing Reports placed in Medical Record and sent to other care providers 10-month Follow-up Appointment and Exam with Study Physician and Genetic Counselor Medical Record Review
Workflow for Infant and Parents Healthy infant born at BWH or BCH NICU admission eligible for study RA approaches parents, provides study info Pre-Enrollment Genetic Counseling, Study Physicians and Genetic Consent and Baseline Visit/Survey Counselors available for Qs Results Disclosure Visit/Survey 1-Week Post-Disclosure Phone Call 3-Month Post-Disclosure Survey 10-Month Post-Disclosure Visit/Exam/Survey
Workflow for Physicians Neonatologists, NICU Specialists, Community Pediatricians receive Baseline/Attitudes Survey (completion = consent) MD’s patient(s) enroll, MD’s patient(s) enroll, Study MDs and GCs available for questions None of MD’s patients randomized to at least 1 randomized enroll NBS-only to GS+NBS Baseline Survey reminder if incomplete Receive summary of results disclosure by study GC to family. Option to discuss with study GC/MD Post-Disclosure/ Utilization Survey (completion = consent) End of Study/Attitudes Survey (completion = consent)
Data Collection Domains ¡ Parents Parents MDs MDs Post- 3 month 10 month End of Survey Domain Baseline Disclosure Follow-up Follow-up Study Attitudes X X X X Perceived Utility X X X X X X X Healthcare Utilization X X X X X X Health Behaviors & X X X X Intentions Parent-Child X X X X Relationship Perceptions of Child X X X Personal Distress X X X X Partner Relationship X X X
The BabySeq Project Team Leadership Co-Investigators, continued Advisory Board Alan H. Beggs, PhD (Joint PI) Harvey Levy, MD Bruce Korf, MD, PhD (Chair) Robert C. Green, MD, MPH (Joint PI) Philip Lupo, PhD, MPH Les Biesecker, MD Peter J. Park, PhD David Miller, MD, PhD Steve Cederbaum, MD Heidi L. Rehm, PhD Patrice Milos, PhD Alex Kemper, MD, MPH Tim W. Yu, MD, PhD Ann Poduri, MD Zak Kohane, MD, PhD Pankaj B. Agrawal, MD, MMSC Steve Ringer, MD, PhD Lou Kunkel, PhD Richard B. Parad, MD, MPH Amy Roberts, MD Jim Lupski, MD, PhD Ingrid A. Holm, MD, MPH Jason Vassy, MD, MPH Sharon Terry, MA Amy L. McGuire, JD, PhD Susan Waisbren, PhD Chris Walsh, MD, PhD Louise Wilkins-Haug, MD, PhD Project Managers/GCs Staff Sarah Kalia, ScM, CGC Consultants Lily Hoffman-Andrews Meghan Towne, MS, CGC George Church, PhD Ali Noorbaksh Lisa Diller, MD Stacey Pereira, PhD Co-Investigators Dmitry Dukhovny, MD, MPH Jill Robinson, MA Ozge Ceyhan Birsoy, PhD Steve Joffe, MD, MPH Rebecca Walsh Kurt Christensen, PhD Peter Kraft, PhD Leslie Frankel, PhD Michelle Lewis, MD, JD Anne Hansen, MD, MPH David Margulies, MD, PhD Lise Johnson, MD Neela Sahai, MD Special thanks to Joel Krier, MD Danielle Bäck Bill Lane, MD, PhD for contributing slides ¡
Thank You Questions? Comments? skalia@genetics.med.harvard.edu
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