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A specialist 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, implements needed therapeutic interventions, and provides prevention through prenatal diagnosis.
A 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 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 cellular components,
particularly chromosomes, associated with heredity.
Clinical Genetics (M.D.): A clinical geneticist demonstrates competence in providing comprehensive diagnostic, management, and counseling services for genetic disorders.
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.
Ph.D. Medical Genetics: A medical geneticist works in association with a medical specialist, is affiliated with a clinical genetics program, and serves as a consultant to medical and
dental specialists.
Certification in the following subspecialty requires one year 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. |