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Research Overview

Dr. Holm’s research focuses on the ELSI issue in genomics research in a pediatric setting. She was PI of two NIH-funded grants, one as part of the NHGRI CSER (Clinical Sequencing Exploratory Research) consortium, to study the impact of returning genomic research results to parents and children. Dr. Holm’s related research focus is on diagnosing rare genetic diseases.

Laboratory Projects

  1. BabySeq: The project Genome Sequence-Based Screening for Childhood Risk and Newborn Illness, also called BabySeq, is a randomized trial of infants and their parents from the Newborn Nursery and the Neonatal Intensive Care Unit. Dr. Holm and Dr. Amy McGuire (Baylor College of Medicine) are the co-PIs of the ELSI arm of the project, which examines the clinical outcomes, benefits, and harms of providing genomic sequencing information to parents and medical providers.
  2. Undiagnosed Diseases Network (UDN): The goal of the UDN is to understand conditions that have eluded diagnosis. Dr. Holm oversees the patient engagement and IRB activities of the HMS-based Coordinating Center. Dr. Holm is also co-investigator of the Harvard Affiliated Hospitals UDN clinical site.
  3. The Electronic Medical Records and Genomics (eMERGE) Network: In eMERGE II Dr. Holm was co-PI with Dr. John Harley at Cincinnati Children’s Hospital Medical Center of a joint site. She co-led the “Consent, Education, Regulation & Consultation” (CERC) work group, which explores the ELSI issues. In eMERGE III she co-chairs the Return of Results/ELSI work group and continues to co-led the CERC supplement on patient perspectives on broad consent and data sharing in biobanks.
  4. Sudden Infant Death Syndrome (SIDS) and Sudden Unexplained Death in Childhood (SUDC): Working with Dr. Hannah Kinney’s group in the Department of Pathology, Dr. Holm is interested in unraveling the genetic contributions to both of these disorders. She is a co-investigator in the PASS study, a large international study of SIDS and leads the genetic studies.

Research Background

Dr. Holm obtained her MD at the University of California, Los Angeles and completed her pediatric residency and dual fellowship in Pediatric Endocrinology and Medical Genetics at Boston Children's Hospital (BCH) where she studied the gene defective in X-linked hypophosphatemic rickets (HYP). She completed the Harvard Pediatric Health Services Research Fellowship and received her M.P.H. at the Harvard School of Public Health. She directed the Phenotype Core of the Program in Genomics from 2003-2013, which led to her interests in the ethical, legal, and social implications (ELSI) of genomics research. She is Associate Professor of Pediatrics at HMS.

Selected Publications

  1. Kohane IS, Mandl KD, Taylor PL, Holm IA, Nigrin DJ, Kunkel LM. Medicine. Reestablishing the researcher-patient compact. Science. 2007;316(5826):836-7.
  2. Harris, ED, Ziniel, SI, Amatruda, JG, Clinton, CM, Savage, SK, Taylor, PL, Huntington, NL, Green, RC, Holm, IA. The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository. Genetics in Medicine 2012 Mar;14(3):330-7.
  3. Holm, IA, Poduri, A, Crandall, L, Chadwick, A, Grafe, MR, Kinney, HC, Krous, HF. Inheritance of Febrile Seizures in Sudden Unexplained Death in Toddlers. Pediatr Neurol. 2012 Apr;46(4):235-9.
  4. Ziniel SI, Savage SK, Huntington N, Amatruda J, Green RC, Weitzman ER, Taylor P, Holm IA. Parents' Preferences for Return of Results in Pediatric Genomic Research. Public Health Genomics. 2014;17(2):105-14.
  5. Holm IA, Iles BR, Ziniel SI, Bacon PL, Savage SK, Christensen KD, Weitzman ER, Green RC, Huntington NL. Participant satisfaction with a preference-setting tool for the return of individual research results in pediatric genomic research. J Empir Res Hum Res Ethics. 2015 Oct;10(4):414- 26. PMID: 26376753.

Publications