Medical Geneticist

Medical Geneticists are highly-trained in diagnostics studies as well as therapeutic procedures for patients who have diseases that are genetically-linked. These specialized training make use of modern cytogenetic, radiological and biochemical testing to provide assistance in specialized genetic counseling, application of necessary therapeutic interventions and cater to prevention through prenatal diagnosis. It is the responsibility of the Medical Geneticist to plan and coordinate large-scale programs related to screening of inborn errors of metabolism, hemoglobinopathies, abnormalities in chromosome structure and neural tube defects.

The training required for Medical Geneticists is two to four years. The board does issue multiple general certificates for the following areas of Medical Genetics:

  • A Clinical Biochemical Genetics Certificate which can be obtained if the Geneticist demonstrates competent skills in performing and translating biochemical analyses important to the diagnosis and management of genetic diseases targeting humans and is also a consultant concerning laboratory diagnosis of a wide range of disorders concerning inheritance.

  • A Clinical Cytogenetics Certificate through the demonstration of competence in delivering laboratory diagnostics and clinical interpretative services handling chromosomes associated with cancer and other inherited disorders.

  • A Clinical Genetics Certificate through the demonstration of proficiency in handling comprehensive diagnostic, management and counseling services for those who are at risk in acquiring clinical disorders with a genetic inclination.

  • A Clinical Molecular Genetics Certificate through the demonstration of proficient skills in performing and translating molecular analyses significant to the diagnosis and management of genetic diseases in humans, and also plays as a consultant on laboratory diagnosis of a wide range of inherited diseases.

For the subspecialties of Medical Genetics, an additional training and examination is required for certifications in Molecular Genetic Pathology and Medical Biochemical Genetics.

The scope of Medical Genetics includes many different areas which include even the clinical practice of physicians, nutritionists, genetic counselors, activities in the clinical diagnostic laboratory and extensive research into the causes of inherited genetic disorders. Among the conditions that are within the scope of medical genetics are birth defects, mental retardation, autism, metabolic and mitochondrial disorders and many others. Medical Genetics has recently been becoming increasingly significant to various common diseases. It often overlaps with the other specialties of medicine as the latest advancements in genetics are illuminating etiologies for systemic: neurological, endocrine, pulmonary, cardiovascular, ophthalmologic, renal dermatologic and even psychiatric conditions.

The existing practice in the clinical setting is where patients or clients are being evaluated identifies the scope of practice, diagnostics and therapeutic interventions. The typical patient and genetic practitioner encounter may involve:

  • A referral to an out-patient genetics clinic which specifically caters to any growth bracket: pediatric, adult or combined or if preferred by the patient, an in-hospital consultation most often done for diagnostic evaluations.

  • For the management of inborn errors of metabolism, skeletal dysplasia or lysosomal storage diseases, patients are encouraged to seek help in the specialty genetic clinics.

  • For prenatal counseling, prenatal genetic clinics discuss with the patient that risks of the pregnancy, laboratory results as well as prenatal diagnosis such as amniocentesis or chorionic villus sampling.

In the United States, there are a number of careers paths for the Medical Genetics field naturally differing considerably. It is the American Board of Medical Genetics who issues board certifications for clinical, counseling or diagnostic subspecialties. It takes four years of college, four years of Medical schools, two to three years of primary residency, and another two years for Residency in Clinical Genetics. For a Geneticist to acquire a PhD degree, another four to seven years is necessary.

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