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Medical Genetics
American Board of Medical Genetics
9650 Rockville Pike
Bethesda, MD 20814-3998
Tel: (301) 634-7315
www.abmg.org

A Medical Geneticist is trained in diagnostic and therapeutic procedures for patients with genetically-linked diseases. This specialist uses modern cytogenetic, radiologic and biochemical testing to assist in specialized genetic counseling, implement needed therapeutic interventions and provide prevention through prenatal diagnosis. The Medical Geneticist plans and coordinates large-scale screening programs for inborn errors of metabolism, hemoglobinopathies, chromosome abnormalities and neural tube defects.

Training Required: Two or four years

The board issues multiple general certificates in the following areas of Medical Genetics:

  • Clinical Biochemical Genetics
    A Clinical Biochemical Geneticist demonstrates competence in performing and interpreting biochemical analyses relevant to the diagnosis and management of human genetic diseases, and is a consultant regarding laboratory diagnosis of a broad range of inherited disorders.

  • Clinical Cytogenetics
    A Clinical Cytogeneticist demonstrates competence in providing laboratory diagnostic and clinical interpretive services dealing with chromosomes associated with inherited disorders and cancer.

  • Clinical Genetics (MD)
    A Clinical Geneticist demonstrates competence in providing comprehensive diagnostic, management and counseling services for individuals and families at risk for clinical disorders with a genetic basis.

  • Clinical Molecular Genetics
    A Clinical Molecular Geneticist demonstrates competence in performing and interpreting molecular analyses relevant to the diagnosis and management of human genetic diseases, and is a consultant regarding laboratory diagnosis of a broad range of inherited disorders.

Subspecialties for Medical Genetics

Certification in one of the the following subspecialties requires additional training and examination.

  • 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.

  • Medical Biochemical Genetics
    A Medical Biochemical Geneticist demonstrates competence in the diagnosis and medical management of individuals with inborn errors of metabolism. They provide direct care and consultative care for individuals of all ages who are diagnosed with the types of disorders.

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