Center for Medical Ethics and Health Policy

Completed: BabySeq Project: Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants


Project Description


The original BabySeq Project was a first-of-its-kind randomized clinical trial designed pilot study to assess the impact of using genomic sequencing in routine newborn care. 

The BabySeq2 Project is an implementation study that builds from that pilot study, as well as the existing newborn screening program. Through this public health initiative newborns born in the U.S. receive a heel stick blood test shortly after birth in order to screen for approximately 30 heritable, treatable conditions such as blood, endocrine, and metabolic disorders. Newborn genomic sequencing has the potential to supplement and expand existing newborn screening by screening for thousands of disorders that newborns could be at risk for developing during childhood. Earlier diagnosis of these conditions could in turn lead to specific screening, surveillance, and treatment options, allowing for more personalized and preventive healthcare.

The study plans to enroll and randomize to receive genome sequencing or be in the control group (receive routine newborn care) 500 newborns in Boston, MA; New York City, NY; and Birmingham, AL and prioritize inclusion of a diverse, nationally representative cohort of families.

Results from the genome sequencing will be shared with the baby’s parents and pediatrician. Results may include risks that could affect their medical care in childhood as well as a few highly actionable adult-onset conditions that could impact parents’ health

A key aspect will be community engagement with local partners and a stakeholder board. Parents at each site will be interviewed about their perspectives on genomic research in English or Spanish. Parents will also be asked to complete three surveys over the first year of the study about their emotional state, family relationships, genetics knowledge, and perceived utility of the information they receive. Pediatricians will also be enrolled in the study, provided educational training in genomics and resources to help interpret positive results.


Project Personnel


Principal Investigators

BCM Co-Investigators


  • Alan Beggs, Ph.D.
  • Clement Bottino, M.D., M.P.H.
  • Kurt Christensen, Ph.D.
  • Joy Dean, M.D.
  • Kelly East, M.S.
  • Bruce Gelb, M.D.
  • Carol R. Horowitz, M.D., M.P.H.
  • Bruce R. Korf, M.D., Ph.D.
  • Neil Lamb, Ph.D.
  • Matt Lebo, Ph.D.
  • Heidi Rehm, Ph.D.
  • Hana Zouk, Ph.D.



Armstrong B, Christensen KD, Genetti CA, et al. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet. 2022;13:867371. Published 2022 Apr 27. doi:10.3389/fgene.2022.867371.

Pereira S, Smith HS, Frankel LA, et al. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021;175(11):1132-1141. doi:10.1001/jamapediatrics.2021.2829.

Smith HS, Morain SR, Robinson JO, Canfield I, Malek J, Rubanovich CK, Bloss CS, Ackerman SL, Biesecker B, Brothers KB, Goytia CN, Horowitz CR, Knight SJ, Koenig B, Kraft SA, Outram S, Rini C, Shipman KJ, Waltz M, Wilfond B, McGuire AL. Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development. Patient. 2021 Oct 18. doi: 10.1007/s40271-021-00558-4. Epub ahead of print. PMID: 34658003.

Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Conceptualization of utility in translational clinical genomics research. Am J Hum Genet. 2021 Nov 4;108(11):2027-2036. doi: 10.1016/j.ajhg.2021.08.013. Epub 2021 Oct 22. PMID: 34687653.




Utility of Genomic Testing: A Multidisciplinary Perspective, by Amy McGuire, Janet Malek, Hadley Stevens Smith, and Ben Wilfond at the American Society for Bioethics and Humanities annual meeting in 2019


Supplement Project: Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and Validation


Project Description

A major goal of the CSER consortium is to generate evidence regarding the utility of genomic sequencing (GS). Specifically, the aim is to understand what clinical utility (e.g., impact on diagnosis, treatment, and management) and other dimensions of utility beyond those captured in medical records (e.g., psychological and pragmatic utility) clinicians, patients, families and society experience with GS information. We are developing a survey instrument to assess patients' and families' perceived utility using a rigorous methodological approach in order to generate comprehensive evidence of the broad dimensions of utility of GS that will be made broadly available.

To date we have:

  • Conducted an extensive literature review to identify the many dimensions of utility (as well as dis-utilities). This led to a subsequent literature review to understand the lack of conceptual clarity about the different theories and definitions of utility and related concepts are used in Philosophy, Microeconomics, Health Evaluation, and Clinical Decision-Making
  • Conducted interviews across all CSER sites (n=7) for a total of n=60 interviews with patients and parents of patients to assess their perceptions of utility and disutility of GS
  • Developed a conceptual model of patient-perceived utility of clinical GS that can be used to guide future approaches to evaluate GS
  • Developed an item pool of over 80 items that we cognitively tested with n=37 CSER participants across 6 CSER sites

Our next steps to develop this quantitative measure of patient-perceived utility of clinical GS include:

  • Pilot test the item pool with CSER participants, n=50 in each adult and parents of pediatric patient populations.
  • Refine the item pool based on the pilot testing and administer the revised items to test the psychometric properties of the draft instrument. We will administer n=250 surveys to adult patients and n=250 surveys to parents of pediatric patients.
  • Finalize the instrument by administering n=250 surveys to adult patients and n=250 surveys to parents of pediatric patients. This step will repeat the previous step and add in a confirmatory steps as well as collect data on related factors.

Supported by: U01HG006485-08S1, National Human Genome Research Institute, NIH

Previous supplement title: Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Development and Validation, U01HG006485-S1

Origin Project: Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants