Medical Geneticist

Medical Geneticists (also known as Clinical Geneticists) are physicians who care for patients in clinical settings. They often carry out clinical or translational research related to patient care. The American Board of Medical Genetics and Genomics (ABMGG) certifies medical geneticists in the specialty of clinical genetics and genomics.  Training for this specialty is broad and includes the evaluation, diagnosis, management and treatment of inherited conditions in patients across all ages from birth to adulthood. Because of the wide-ranging effects of inherited conditions, medical geneticists work at the intersection of many other medical disciplines.

Key functions of Medical Geneticists

  • Provide comprehensive diagnostic evaluation and consultation by:
    • Integrating clinical and genetic information.
    • Coordinating cytogenetic, molecular, genomic and/or biochemical genetic testing.
    • Communicating the uses, limitations, and significance of specialized laboratory and clinical procedures.
  • Provide appropriate referral or support.
  • Interpret and communicate complex results and the familial implications.
  • Manage certain inherited disorders with treatment, particularly inborn errors of metabolism.
  • Partner with referring providers and other healthcare professionals for surveillance and management.


Medical geneticists have medical degrees (MD, DO or equivalent). They have completed at least one residency year in an Accreditation Council for Graduate Medical Education (ACGME)-accredited primary specialty followed by two years of medical genetics and genomics residency training. Combined medical genetics and genomics training programs are also available with pediatrics, internal medicine, maternal fetal medicine, and reproductive endocrinology and infertility. Candidates completing residency training in medical genetics and genomics are eligible to seek board certification through the ABMGG. The ABMGG is a member board of the American Board of Medical Specialties (ABMS).