Genetic testing in sudden unexpected natural death in the young: New York City Office of Chief Medical Examiner's experience and perspective

Forensic Sci Med Pathol. 2019 Sep;15(3):481-484. doi: 10.1007/s12024-018-0068-6. Epub 2018 Dec 7.

Abstract

Postmortem genetic testing is a diagnostic tool that is becoming increasingly utilized. The benefits and limitations of genetic testing in cases of sudden, unexpected death in the young (≤ 40 years old) are reviewed from the perspective of the Office of Chief Medical Examiner of the City of New York, whose Molecular Genetics Laboratory, accredited by College of American Pathologists, has had 15 years of postmortem testing experience. Challenges to the interpretation and communication of testing results are highlighted, and opportunities for improving testing yield are discussed for age groups across the lifespan, from infancy to adulthood.

Keywords: Genetic testing; Postmortem; Sudden death.

MeSH terms

  • Adolescent
  • Adult
  • Cardiovascular Diseases / genetics
  • Channelopathies / genetics
  • Child
  • Child, Preschool
  • Coroners and Medical Examiners
  • DNA Copy Number Variations
  • Death, Sudden / etiology*
  • Genetic Carrier Screening
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Genetic Variation
  • Humans
  • Infant
  • New York City
  • Primary Prevention
  • Sudden Infant Death / genetics
  • Young Adult