The BabySeq Project

Background The BabySeq Project: Phase I was a first-of-its-kind randomized clinical trial designed to measure the utility of using genomic sequencing in routine newborn care. The concept for this project is built off of the existing newborn screening program, an important public health initiative. All newborns born in the U.S. receive a heel stick blood … Continued

Publications

2026

Designing inclusive newborn sequencing research: Insights from parents in underrepresented communities

Del Rosario MC, Walmsley SA, Harrison BW, Stephens CT, Zettler B, Rivera-Cruz G, Agrawal P, Brower A, Chigbu S, Christensen KD, Genetti CA, Givens R, Gold NB, Reeves IV, Schichter I, Shariat H, Simon S, Smith HS, Uveges M, Green RC, Holm IA, Pereira S

BMC Medical Genetics Mar 2026  

2025

Data-driven consideration of genetic disorders for global genomic newborn screening programs

Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H, ICoNS Gene List Contributors, Bick D, the International Consortium on Newborn Sequencing (ICoNS), Green RC, Gold NB

Genetics in Medicine May 2025  

2024

Family genetic risk communication and cascade testing in the BabySeq Project

Uveges MK, Smith HS, Pereira S, Genetti C, McGuire AL, Beggs AH, Green RC, Holm IA

Genetics in Medicine Dec 2024  

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants

Smith HS, Zettler B, Genetti CA, Hickingbotham MR, Coleman TF, Lebo M, Nagy A, Zouk H, Mahanta L, Christensen KD, Pereira S, Shah ND, Gold NB, Walmsley S, Edwards S, Homayouni R, Krasan GP, Hakonarson H, Horowitz CR, Gelb BD, Korf BR, McGuire AL, Holm IA, Green RC

American Journal of Human Genetics Sep 2024  

2023

Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project

Green RC, Shah N, Genetti CA, Yu T, Zettler B, Uveges MK, Ceyhan-Birsoy O, Lebo MS, Pereira S, Agrawal PB, Parad RB, McGuire AL, Christensen KD, Schwartz TS, Rehm HL, Holm IA, Beggs AH for the BabySeq Project

American Journal of Human Genetics | PMID: 37279760 Jun 2023  

2022

Parents’ decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project

Pereira S, Gutierrez AM, Robinson JO, Christensen KD, Genetti CA, Zawatsky CLB, Hsu RL, Zettler B, Uveges MK, Parad RB, Beggs AH, Holm IA, Green RC, McGuire AL for The BabySeq Project Team

Genetics in Medicine | PMID: 36549595 Dec 2022  

Parental attitudes toward standard newborn screening and newborn genomic sequencing: Findings from the BabySeq Study

Armstrong B, Christensen KD, Genetti CA, Parad RB, Robinson JO, Zawatsky CLB, Zettler B, Beggs AH, Holm IA, Green RC, McGuire AL, Smith HS, Pereira S

Frontiers in Genetics | PMID: 35571041 Apr 2022  

2021

Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project

Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Zawatsky CLB, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL, BabySeq Project Team

JAMA Pediatrics Aug 2021  

Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression

Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC, The BabySeq Project Team, Bachmann GA, Rabson AB, Holm IA

Journal of Genetic Counseling Jul 2021  

A framework for automated gene selection in genomic sequencing

Lazo de la Vega L, Yu W, Machini K, Austin-Tse CA, Hao L, Blout Zawatsky CL, Mason-Suares H, Green RC, Rehm HL, Lebo MS

Genetics in Medicine | PMID: 34113001 Jun 2021  

Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project

Wojcik MH, Zhang T, Ceyhan-Birsoy O, Genetti C, Lebo M, Yu TW, Parad RB, Holm IA, Rehm HL, Green RC, Beggs AH, Agrawal PB, BabySeq Project Team

Genetics in Medicine Mar 2021  

2020

Quantifying downstream health care utilization in studies of genomic testing

Mackay Z, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD

Value in Health Mar 2020  

2019

FDA oversight of NSIGHT genomic research: The need for an integrated systems approach to regulation

Milko LV, Chen F, Chan K, Brower AM, Agrawal PB, Beggs AH, Berg JS, Brenner SE, Holm IA, Koenig BA, Parad RB, Powell CM, Kingsmore SF

npj Genomic Medicine Dec 2019  

Challenging the current recommendations for carrier testing in children

VanNoy GE, Genetti CA, McGuire AL, Green RC, Beggs AH, Holm IA

Pediatrics | PMID: 30600268 Jan 2019  

Returning a genomic result for an adult-onset condition to the parents of a newborn: Insights from the BabySeq Project

Holm IA, McGuire AL, Pereira S, Rehm HL, Green RC, Beggs AH

Pediatrics | PMID: 30600270 Jan 2019  

Perceived benefits, risks, and utility of newborn genomic sequencing in the BabySeq Project

Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL

Pediatrics Jan 2019  

Interpretation of genomic sequencing results in healthy and ill newborns: Results from the BabySeq Project

Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH

American Journal of Human Genetics Jan 2019  

2018

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: A BabySeq Project case report

Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL

Cold Spring Harbor Labratory Press Nov 2018  

The BabySeq Project: Implementing genomic sequencing in newborns

Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, The BabySeq Project Team, Green RC and Beggs AH

BMC Pediatrics Jul 2018  

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

Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WB, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB

Genetics in Medicine Mar 2018  

2017

A curated gene list for reporting results of newborn genomic sequencing

Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL, for the BabySeq Project

Genetics in Medicine Jan 2017  

2016

Potential psychosocial risks of sequencing newborns

Frankel LA, Pereira S, McGuire AL

Pediatrics | PMID: 26729699 Jan 2016  

Psychosocial factors influencing parental interest in genomic sequencing of newborns

Waisbren SE, Weipert CM, Walsh RC, Petty CR, Green RC

Pediatrics Jan 2016  

2015

Disclosing secondary findings from pediatric sequencing to families: Considering the “benefit to families”

Wilfond BS, Fernandez CV, Green RC

The Journal of Law | PMID: 26479565 Oct 2015  

Parents are interested in newborn genomic testing during the early postpartum period

Waisbren SE, Bäck DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC

Genetics in Medicine Jun 2015  

2014

Parents’ preferences for return of results in pediatric genomic research

Ziniel S, Savage SK, Huntington N, Amatruda J, Green RC, Weitzman ER, Taylor P, Holm IA

Public Health Genomics | PMID: 24642506 Mar 2014  

Guidelines for return of research results from pediatric genomic studies: Deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board

Holm IA, Savage SK, Green RC, Juengst E, McGuire A, Kornetsky S, Brewster SJ, Joffe S, Taylor P.

Genetics in Medicine | PMID: 24406460 Jan 2014