Ingrid Holm, MD, MPH
Associate in Pediatrics, Division of Genetics and Genomics and Division of Endocrinology
Professor of Pediatrics, Harvard Medical School
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Ingrid Holm, MD, MPH
Associate in Pediatrics, Division of Genetics and Genomics and Division of Endocrinology
Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
Swedish
Education
Undergraduate School
Psychology
Brown University
1979
Providence
RI
Medical School
University of California, Los Angeles, School of Medicine
1985
Los Angeles
CA
Internship
Pediatrics
Boston Children's Hospital
1986
Boston
MA
Residency
Pediatrics
Boston Children's Hospital
1988
Boston
MA
Fellowship
Genetics and Pediatric Endocrinology
Boston Children's Hospital
1992
Boston
MA
Graduate School
MPH
Harvard School of Public Health
2003
Boston
MA
Certifications
American Board of Medical Genetics and Genomics (Clinical Genetics)
American Board of Pediatrics (Endocrinology)
Professional History
Ingrid A. Holm, MD, MPH is a pediatric geneticist and endocrinologist at Boston Children’s Hospital (BCH), Professor of Pediatrics at Harvard Medical School (HMS), and a member of the HMS Center for Bioethics. She received her M.D. from the University of California, Los Angeles, and she completed her residency in pediatrics and her fellowships in genetics and pediatric endocrinology at BCH. In 2003 she completed the Harvard Pediatric Health Services Research Fellowship and received her M.P.H. in Clinical Effectiveness at the Harvard School of Public Health. She has a certificate in Pediatric Bioethics.
Dr. Holm focuses on the Ethical, Legal, and Social Implications (ELSI) of genomics, and in rare disease research. She studies the impact of integrating genetic sequencing into newborn screening, the impact of implementation of genomic medicine on patients and providers, and the ethics of therapies for ultrarare diseases. She is Associate Director of Robert’s Program in Sudden Unexpected Death in Pediatrics (SUDP), to identify genetic contributions to SUDP. She was elected to the Society for Pediatric Research, is a Fellow of the American Academy of Pediatrics (AAP) and a Fellow of the American College of Medical Genetics and Genomics (ACMG). She chairs the BCH IRB. Dr. Holm’s primary clinical interests are in pediatric bone disease and genetic conditions that lead to disorders of sex development.
Publications
Growth Attenuation Therapy: Ongoing Ethical and Practical Challenges 20 Years Post Ashley. View Abstract
Covering medical care costs for participants in the eMERGE Network: Challenges for equity and implementation. View Abstract
Data-driven consideration of genetic disorders for global genomic newborn screening programs. View Abstract
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height. View Abstract
Family genetic risk communication and reverse cascade testing in the BabySeq project. View Abstract
Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. View Abstract
Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns. View Abstract
Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project. View Abstract
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants. View Abstract
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder. View Abstract
Genetic predictors of blood pressure traits are associated with preeclampsia. View Abstract
Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. View Abstract
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. View Abstract
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. View Abstract
Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. View Abstract
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders. View Abstract
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. View Abstract
Advancing Understanding of Inequities in Rare Disease Genomics. View Abstract
Studying the impact of translational genomic research: Lessons from eMERGE. View Abstract
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. View Abstract
The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths. View Abstract
Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. View Abstract
Returning Individual Research Results from Digital Phenotyping in Psychiatry. View Abstract
Perspectives of Rare Disease Experts on Newborn Genome Sequencing. View Abstract
Advancing Understanding of Inequities in Rare Disease Genomics. View Abstract
Genetic Predictors of Blood Pressure Traits are Associated with Preeclampsia. View Abstract
Returning integrated genomic risk and clinical recommendations: The eMERGE study. View Abstract
Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project. View Abstract
Re: Technical Report for Updated 2022 Recommendations for Reducing Infant Deaths in the Sleep Environment. View Abstract
Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children. View Abstract
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research. View Abstract
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age. View Abstract
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). View Abstract
Health Supervision for Children and Adolescents With Down Syndrome. View Abstract
Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. View Abstract
Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network. View Abstract
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. View Abstract
Genetic Determinants of Sudden Unexpected Death in Pediatrics. View Abstract
Retrospective study of patterns of vitamin D testing and status at a single institution paediatric orthopaedics and sports clinics. View Abstract
Current Trends in Genetics and Neonatal Care. View Abstract
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. View Abstract
Do research participants share genomic screening results with family members? View Abstract
Association of Prenatal Exposure to Maternal Drinking and Smoking With the Risk of Stillbirth. View Abstract
Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. View Abstract
The Unrecognized Mortality Burden of Genetic Disorders in Infancy. View Abstract
Testing Two Patient Surveys for Diagnosing Rare Genetic Conditions View Abstract
Preferences for Updates on General Research Results: A Survey of Participants in Genomic Research from Two Institutions. View Abstract
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. View Abstract
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study. View Abstract
Nicotinic Receptors in the Brainstem Ascending Arousal System in SIDS With Analysis of Pre-natal Exposures to Maternal Smoking and Alcohol in High-Risk Populations of the Safe Passage Study. View Abstract
Genetic Factors Underlying Sudden Infant Death Syndrome. View Abstract
Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network. View Abstract
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). View Abstract
Participant choices for return of genomic results in the eMERGE Network. View Abstract
A de novo BRPF1 variant in a case of Sudden Unexplained Death in Childhood. View Abstract
Children's rare disease cohorts: an integrative research and clinical genomics initiative. View Abstract
Children's rare disease cohorts: an integrative research and clinical genomics initiative. View Abstract
The role of sodium channels in sudden unexpected death in pediatrics. View Abstract
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. View Abstract
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network. View Abstract
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network. View Abstract
Development of osteoarthritis in patients with degenerative meniscal tears treated with exercise therapy or surgery: a randomized controlled trial. View Abstract
Concurrent prenatal drinking and smoking increases risk for SIDS: Safe Passage Study report. View Abstract
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. View Abstract
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. View Abstract
IgG Fc glycosylation as an axis of humoral immunity in childhood. View Abstract
Response to Knoppers et al. View Abstract
Rethinking the "open future" argument against predictive genetic testing of children. View Abstract
Enrichment sampling for a multi-site patient survey using electronic health records and census data. View Abstract
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. View Abstract
Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. View Abstract
Challenging the Current Recommendations for Carrier Testing in Children. View Abstract
Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project. View Abstract
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Parents' attitudes toward consent and data sharing in biobanks: A multisite experimental survey. View Abstract
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. View Abstract
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. View Abstract
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. View Abstract
The BabySeq project: implementing genomic sequencing in newborns. View Abstract
Physicians' perspectives on receiving unsolicited genomic results. View Abstract
Using Newborn Sequencing to Advance Understanding of the Natural History of Disease. View Abstract
Expanding the phenotypic spectrum associated with OPHN1 variants. View Abstract
The Genetics of Sudden Infant Death Syndrome View Abstract
Plain-language medical vocabulary for precision diagnosis. View Abstract
SCN1A variants associated with sudden infant death syndrome. View Abstract
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network. View Abstract
Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing? View Abstract
Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. View Abstract
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). View Abstract
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience. View Abstract
High-throughput characterization of the functional impact of IgG Fc glycan aberrancy in juvenile idiopathic arthritis. View Abstract
Implementing the Single Institutional Review Board Model: Lessons from the Undiagnosed Diseases Network. View Abstract
Prior opioid exposure influences parents' sharing of their children's CYP2D6 research results. View Abstract
Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples. View Abstract
From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation. View Abstract
Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US. View Abstract
Pediatric Issues in Return of Results and Incidental Findings: Weighing Autonomy and Best Interests. View Abstract
Newborn Sequencing in Genomic Medicine and Public Health. View Abstract
A curated gene list for reporting results of newborn genomic sequencing. View Abstract
Conducting a large, multi-site survey about patients' views on broad consent: challenges and solutions. View Abstract
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. View Abstract
Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority. View Abstract
Anterior knee pain following anterior cruciate ligament reconstruction does not increase the risk of patellofemoral osteoarthritis at 15- and 20-year follow-ups. View Abstract
Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER. View Abstract
Hippocampal Formation Maldevelopment and Sudden Unexpected Death across the Pediatric Age Spectrum. View Abstract
Suboptimal Clinical Documentation in Young Children with Severe Obesity at Tertiary Care Centers. View Abstract
Parental Perception of Self-Empowerment in Pediatric Pharmacogenetic Testing: The Reactions of Parents to the Communication of Actual and Hypothetical CYP2D6 Test Results. View Abstract
Electronic Health Record Based Algorithm to Identify Patients with Autism Spectrum Disorder. View Abstract
Developing an Algorithm to Detect Early Childhood Obesity in Two Tertiary Pediatric Medical Centers. View Abstract
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. View Abstract
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network. View Abstract
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. View Abstract
Family health history reporting is sensitive to small changes in wording. View Abstract
Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study. View Abstract
Response to Patryn and Zagaja. View Abstract
Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic. View Abstract
A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States. View Abstract
When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority. View Abstract
Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research. View Abstract
The Matchmaker Exchange: a platform for rare disease gene discovery. View Abstract
A GWAS Study on Liver Function Test Using eMERGE Network Participants. View Abstract
Evaluation of a home treatment program for cold hypersensitivity using a classical conditioning procedure in patients with hand and arm injuries. View Abstract
Data sharing in the undiagnosed diseases network. View Abstract
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. View Abstract
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. View Abstract
The development of a preference-setting model for the return of individual genomic research results. View Abstract
Does outpatient physical therapy with the aim of improving health-related physical fitness influence the level of physical activity in patients with long-term musculoskeletal conditions? View Abstract
Parents are interested in newborn genomic testing during the early postpartum period. View Abstract
Clinical Management of Pediatric Genomic Testing. View Abstract
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. View Abstract
Practical guidance on informed consent for pediatric participants in a biorepository. View Abstract
An assessment of clinician and researcher needs for support in the era of genomic medicine. View Abstract
Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. View Abstract
Return of genomic results to research participants: the floor, the ceiling, and the choices in between. View Abstract
Return of results in the genomic medicine projects of the eMERGE network. View Abstract
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. View Abstract
Parents' preferences for return of results in pediatric genomic research. View Abstract
Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome. View Abstract
Patients with musculoskeletal conditions do less vigorous physical activity and have poorer physical fitness than population controls: a cross-sectional study. View Abstract
Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board. View Abstract
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. View Abstract
EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. View Abstract
Proximal tibial pain in a child. View Abstract
Proximal tibial pain in a child. View Abstract
Recommendations for returning genomic incidental findings? We need to talk! View Abstract
Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. View Abstract
Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. View Abstract
Multiple juvenile idiopathic arthritis subtypes demonstrate proinflammatory IgG glycosylation. View Abstract
Inheritance of febrile seizures in sudden unexplained death in toddlers. View Abstract
The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository. View Abstract
The Informed Cohort Oversight Board: From Values to Architecture. View Abstract
A clinician's guide to X-linked hypophosphatemia. View Abstract
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. View Abstract
Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset. View Abstract
Cognitive and behavioral characterization of 16p11.2 deletion syndrome. View Abstract
The association between radiographic knee osteoarthritis and knee symptoms, function and quality of life 10-15 years after anterior cruciate ligament reconstruction. View Abstract
Clinical genetic testing for patients with autism spectrum disorders. View Abstract
Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population. View Abstract
Differences in the prevalence of growth, endocrine and vitamin D abnormalities among the various thalassaemia syndromes in North America. View Abstract
Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients". View Abstract
Bone disease in thalassemia: a frequent and still unresolved problem. View Abstract
Do short courses of oral corticosteroids and use of inhaled corticosteroids affect bone health in children? View Abstract
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. View Abstract
The 88th Annual Meeting of the Endocrine Society, June 24-27, 2006, Boston MA, USA: selected pediatric presentations. View Abstract
Can acute administration of pamidronate help to preserve bone mass in children with severe burn injury? View Abstract
Medicine. Reestablishing the researcher-patient compact. View Abstract
Effects of pharmacologic agents on bone in childhood: an editorial overview. View Abstract
The state of pediatric bone: summary of the ASBMR pediatric bone initiative. View Abstract
Smoking and other lifestyle factors and the risk of Graves' hyperthyroidism. View Abstract
Locomotion skills in adults with cerebral palsy. View Abstract
Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated tumor syndromes. View Abstract
Coping potential and disability--sense of coherence in adults with cerebral palsy. View Abstract
Four-strand hamstring tendon autograft compared with patellar tendon-bone autograft for anterior cruciate ligament reconstruction. A randomized study with two-year follow-up. View Abstract
Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. View Abstract
Phosphate wasting in oncogenic osteomalacia: PHEX is normal and the tumor-derived factor has unique properties. View Abstract
Glycogen storage diseases. Phenotypic, genetic, and biochemical characteristics, and therapy. View Abstract
Prospective study of changes in impairments and disabilities after anterior cruciate ligament reconstruction. View Abstract
[Patients with chronic degenerative spinal disease--can conservative treatment reduce the waiting list for surgery?]. View Abstract
Mutational analysis of PHEX gene in X-linked hypophosphatemia. View Abstract
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. View Abstract
Oxidative phosphorylation defect associated with primary adrenal insufficiency. View Abstract
Different responses of skeletal muscle following sprint training in men and women. View Abstract
Effect of familial hypophosphatemic rickets on dental development: a controlled, longitudinal study. View Abstract
Hypervitaminosis D associated with drinking milk. View Abstract
Recurrent hypothermia and thrombocytopenia after severe neonatal brain infection. View Abstract
An unusual pattern of malformation associated with gestational exposure to nasal spray. View Abstract
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