Genomic autopsy

This page is dedicated to the Genomic Autopsy research study, one of over 60 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

Monica Wojcik, MD
Monica Wojcik , MD, MPH
Medical Director, Manton Center Gene Discovery Core; Newborn Medicine Medical Director​, Fetal Care and Surgery Center; Attending Physician, Divisions of Newborn Medicine and Genetics and Genomics
Assistant Professor of Pediatrics, Harvard Medical School

The Genomic Autopsy research study, established in 2020 and led by Dr. Monica Wojcik, has enrolled over 100 patients and their families. The study aims to identify genetic causes underlying illnesses for infants under the age of one year who have passed away unexpectedly while in the hospital. The team works in close partnership with the Newborn Genomics Program which is led by Dr. Wojcik.

Disease information

Neonatal demise, stillbirth, and sudden unexplained infant death are often associated with severe congenital anomalies, structural heart defects, metabolic disorders, and unexplained multi-organ dysfunction. Research suggests that 30–50% of these cases may have an underlying genetic cause, highlighting the importance of genomic autopsy in providing answers for families and guiding recurrence risk counseling.

Key outcomes

The Genomic Autopsy study has found genetic diagnoses for families, offering answers to help guide future planning and provide a sense of closure after the loss of their child. The study has also advanced science, contributing to phenotype expansion (showing that known genetic conditions can have a wider range of symptoms than previously recognized) and led to the discovery of novel gene-disease associations (identifying new links between genes and conditions).

Participate in research

Physicians may refer patients who have experienced pregnancy loss, stillbirth, or neonatal death to Dr. Wojcik. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more on Dr. Wojcik’s research webpage.

Patient care

Families are supported by multidisciplinary teams including geneticists, genetic counselors, neonatologists, and bereavement specialists who provide compassionate care alongside research participation in the departments of NICU, Maternal Fetal Care Center, Newborn Medicine, and Genomics.

Notable publications by investigator 

  1. Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
  2. Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology.
  3. The fundamental need for unifying phenotypes in sudden unexpected pediatric deaths.
  4. Implementing customized genomic sequencing reports to empower providers in safety-net Neonatal Intensive Care Units.
  5. An end to genetic exceptionalism: reframing the ethics of genomic sequencing for rapid neonatal diagnosis.
  6. Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
  7. Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care Unit.
  8. Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants.
  9. "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs.
  10. Genomic testing and molecular diagnosis among infants with congenital heart disease in the neonatal intensive care unit.

Investigator

Monic Wojcik, MD, MPH

Divisions

NICU, Maternal Fetal Care Center, Newborn Medicine, Genomics

Disease support organizations

Star Legacy Foundation

Star Legacy Foundation supports families who experience pregnancy and infant loss, and promotes awareness, education, and research.

First Candle

First Candle is a national nonprofit dedicated to eliminating SIDS and stillbirth while supporting families.

MISS Foundation

MISS Foundation provides counseling, advocacy, and support for families experiencing the death of a child.

Share Pregnancy & Infant Loss Support

Share Pregnancy & Infant Loss Support is a national nonprofit offering grief support for pregnancy and infant loss.

Hand to Hold

Hand to Hold is a national nonprofit that provides personalized emotional support, educational resources and community for all NICU parents before, during and after a NICU stay. 

Project Sweet Peas

​​Project Sweet Peas is a national nonprofit organization providing support to families and caregivers of premature or sick infants and families impacted by pregnancy and infant loss. 

Trusted sites

NORD Report