The specialty of medical genetics includes physicians, PhDs, genetic counselors who hold masters degrees, and nurse genetic counselors. All must pass both a general genetics examination and one or more subtests in specific topic areas including counseling, cytogenetics, molecular genetics and others. For anyone who was certified in 1993 or later, periodic recertification is mandatory.

The key specialists involved in the provision of medical genetics services are:

• Medical Geneticists: Physicians (primarily internists, pediatricians or obstetricians) who complete at least 2 years of residency in their specialty, and an additional 2 to 3 years of residency fellowship training in medical genetics. Concerned with the diagnosis and management of genetic conditions. Clinical activities include:
  • Prenatal diagnostic evaluation and procedures
  • Evaluation of recurrent pregnancy loss and infertility
  • Evaluation of children and adults with mental retardation, birth defects, congenital malformations, chromosomal abnormalities, neurologic and neuromuscular problems
  • Analysis of single gene disorders, such as cystic fibrosis or sickle cell anemia
  • Evaluation of genetic traits involved in common diseases, such as diabetes and heart disease
• PhD Medical Geneticists: PhDs who are trained and certified in medical genetics. Concerned with genetic risk assessment, interpretation of genetic tests and communication of this information to patients and their families as well as to other providers.
• Biochemical Geneticists: MD- or PhD- medical geneticists who have completed additional advanced training and passed a subspecialty certification exam in biochemical genetics. Concerned with the diagnosis and management of metabolic diseases, which are often identified through state-sponsored newborn screening programs. They include MDs who provide patient care and MDs or PhDs in laboratory settings, who provide diagnostic testing and consultation to physicians.
• Cytogeneticists: MD or PhDs who have completed fellowship training in chromosome preparation and analysis, which is used in clinical settings for prenatal diagnosis, assessment and management of mental retardation, infertility and oncology, and other activities.
• Molecular Geneticists: MD or PhDs who have completed fellowship training in molecular genetics and have passed a certification exam in this area. Concerned with the analysis of genetic material to identify gene mutations associated with cancer or genetic disorders, including cystic fibrosis, hemochromatosis, sickle cell anemia, and many others. (Molecular geneticists will be increasingly involved in using the information derived from the Genome Project for new clinical applications of relevance to primary care, such as detection of susceptibility to disease, pharmacogenetic analysis and genetic risk profiling).
• Genetic Counselors: Health care professionals who have completed training in an accredited Masters degree program and passed a certification exam. Concerned with providing information and supportive counseling to families who have genetic disorders or birth defects and those who may be at risk for an inherited condition. Genetic counselors usually work with a medical geneticist or within a department or program at an institution. They play a crucial role in delivery of genetic services, particularly in prenatal diagnosis and cancer genetics. Specifically, they are trained to:
  • Review family histories and medical records
  • Explain genetic conditions and how they are inherited
  • Perform genetic risk assessments
  • Review available testing options
  • Discuss treatment and surveillance options
  • Explore the impact of a genetic disorder on affected and unaffected family members and support/assist individuals and families as they adjust to the diagnosis
  • Refer out to needed medical and support services
• Nurse Genetic Counselors: Registered nurses who have completed training in an accredited Masters degree genetic counseling program and passed a certification exam. Involved in providing health care, as well as all genetic counseling services.