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American Board of Medical Genetics and Genomics

6120 Executive Blvd., Suite 525
Rockville, MD 20852

(301) 634-7315
Medical Genetics and Genomics
Medical Geneticists specialize in genes, hereditary disorders, genetic testing, and more

Medical geneticists specialize in medicine that involves the interaction between genes and health. They are trained to evaluate, diagnose, manage, treat, and counsel individuals of all ages with hereditary disorders. This specialist uses modern cytogenetic, molecular, genomic, and biochemical genetic testing to assist in specialized diagnostic evaluations, implement needed therapeutic interventions, and provide genetic counseling and prevention through prenatal and preimplantation diagnosis. The medical geneticist plans and coordinates screening for genetic diseases involving single gene and chromosomal disorders, congenital anomalies, inborn errors of metabolism, multifactorial conditions, and common disorders with hereditary factors.

Training required prior to certification: Two to three years

Certification in one of the following areas of Medical Genetics requires specialized training and assessment as specified by the board.

Specialty Areas

Clinical Biochemical Genetics
A clinical biochemical geneticist demonstrates competence in directing and interpreting a wide range of specialized, laboratory biochemical genetic analyses relevant to the diagnosis and management of inherited metabolic disorders. The specialist acts as a consultant regarding laboratory diagnosis on a broad range of inborn errors of metabolism.

Clinical Genetics and Genomics (MD)
A clinical geneticist demonstrates competence in providing comprehensive diagnostic, management, therapeutic, and counseling services for individuals and families at risk for clinical disorders with a genetic basis. This specialist is trained to evaluate individuals of all ages for hereditary conditions.

Laboratory Genetics and Genomics
A specialist certified in Laboratory Genetics and Genomics demonstrates competence in directing and interpreting both clinical cytogenetic and molecular genetic analyses relevant to the diagnosis and management of human genetic disease. This specialist acts as a consultant in laboratory diagnoses for a broad range of molecular and chromosomal-based disorders, including both inherited and acquired conditions.


Certification in one of the following subspecialties requires additional training and assessment as specified by the board.

Medical Biochemical Genetics
A medical biochemical geneticist demonstrates competence in the diagnosis, medical treatment, and management of individuals with inherited metabolic conditions presenting clinically from infancy through adulthood, including via newborn screening. The subspecialist provides direct care and consultative care for individuals of all ages who are diagnosed with inborn errors of metabolism.

Molecular Genetic Pathology
A molecular genetic pathologist is expert in the principles, theory, and technologies of molecular biology and molecular genetics. This expertise is used to make or confirm diagnoses of Mendelian genetic disorders, of human development, infectious diseases, and malignancies and to assess the natural history of those disorders. A molecular genetic pathologist provides information about gene structure, function, and alteration and applies laboratory techniques for diagnosis, treatment, and prognosis for individuals with related disorders.

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