Evidence map›Paper›PMID 41593648›Full record

ArticleBMC medical genomics2026

Designing inclusive newborn sequencing research: insights from parents in underrepresented communities.

Maya C Del Rosario, Sheyenne A Walmsley, Barbara W Harrison, Crystal T Stephens, Bethany Zettler, Greysha Rivera-Cruz, Priyal Agrawal, Amy Brower, Stephanie Chigbu, Kurt D Christensen and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

22 authors.

Maya C Del RosarioDivision of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Sheyenne A WalmsleyDepartment of Medicine, Mass General Brigham, Boston, MA, USA.
Barbara W HarrisonDepartment of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.
Crystal T StephensDepartment of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.
Bethany ZettlerDepartment of Medicine, Mass General Brigham, Boston, MA, USA.
Greysha Rivera-CruzDivision of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Priyal AgrawalMindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Amy BrowerCreighton University School of Medicine, Omaha, NE, USA.
Stephanie ChigbuDepartment of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.
Kurt D ChristensenPRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Casie A GenettiDivision of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Richetta GivensDepartment of Surgery, Mount Sinai Hospital, New York, NY, USA.
Nina B GoldDepartment of Pediatrics, Harvard Medical School, Boston, MA, USA.
Inez V ReevesDepartment of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.
Isabella SchichterDivision of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Habib ShariatDepartment of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.
Sandra SimonDepartment of Pediatrics and Child Health, Howard University College of Medicine, Washington, DC, USA.
Hadley Stevens SmithPRecisiOn Medicine Translational Research (PROMoTeR) Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Melissa UvegesBoston College, Connell School of Nursing, Chestnut Hill, MA, USA.
Robert C GreenDepartment of Medicine, Mass General Brigham, Boston, MA, USA.
Ingrid A HolmDivision of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
Stacey PereiraCenter for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA. spereira@bcm.edu.

Funding

Instrumenting the Delivery System for a Genomics Research Information CommonsU01TR002623 · NCATS · BOSTON CHILDREN'S HOSPITAL · PI MANDL, KENNETH D. · 2019 to 2024
$8.6M
Genome-first approach to treatable genetic conditions in adultsK08HG012811 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Nina Beth Gold · 2023 to 2026
$883k
Heterogeneity of preferences for and outcomes of pediatric genomic sequencing by race and ethnicityR00HG011491 · NHGRI · HARVARD PILGRIM HEALTH CARE, INC. · PI SMITH, HADLEY STEVENS · 2023 to 2025
$814k
National Center for Advancing Translational Sciences and the Eunice Kennedy Shriver National Institute of Child Health and Human Development U01TR003201National Center for Advancing Translational Sciences/NIH and the PrecisionLink Project at Boston Children's Hospital U01TR002623National Human Genome Research Institute and Eunice Kennedy Shriver National Institute of Child Health and Human Development R01HD114807NHGRI NIH HHS K08HG012811NHGRI NIH HHS R00HG011491
6 · The paper itself

Abstract

backgroundIt is essential that studies of genomic sequencing (GS) in newborns and children include individuals from under-represented racial and ethnic groups (URG) to ensure future applications are equitably implemented. We conducted interviews with parents from URG to better understand their perspectives on GS research, develop strategies to reduce barriers to enrollment, and facilitate research participation.

methodsSemi-structured interviews with 50 parents from URG.

resultsNearly all parents said they would be interested in participating in an infant GS study. Parents were interested in participating in GS research for reasons including clinical utility, personal utility, and/or family health benefits. Deterrents to enrollment cited by parents were discomfort with enrollment procedures (e.g., not wanting a heel stick), limited emotional bandwidth, unfavorable perceptions of the study, and concerns about potential results. Most parents said they would want to receive all types of genetic results, including actionable and non-actionable, as well as childhood- and adult-onset.

conclusionOur findings demonstrate that parents from URG are interested in participating in GS research. Based upon these findings, we provide recommendations for designing GS studies that are responsive to their concerns.

Indexed as

ParentsPatient ParticipationWhole Genome SequencingAdultBiomedical ResearchFemaleHumansInfant, NewbornMaleDiversityEthicsGenome sequencingNewborn sequencingUnderrepresented populations

Identifiers

PMID41593648
PMCPMC12924578

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.