Medical Genetics

Clinical Geneticists

From the American College of Medical Genetics and Genomics (ACMG): Clinical geneticists are physicians who care for patients in clinical settings and often carry out clinical or translational research related to patient care. They hold American Board of Medical Genetics and Genomics (ABMGG) certification in the specialty of clinical genetics and genomics and have broad training in the evaluation, diagnosis, management and treatment of inherited conditions in patients across all ages from birth to adulthood. Because of the wide-ranging effects of inherited conditions, clinical geneticists work at the intersection of many other medical disciplines. Advances in genetic and genomic technology, including massively parallel and whole genome and exome sequencing, offer unprecedented opportunities to diagnose and treat genetic conditions. These advances, combined with the rapidly changing scientific and medical knowledge base in genetics and genomics, have increased the demand for clinical geneticists to participate in the care of patients of all ages, including prenatal care and family planning. Clinical geneticists have medical degrees such as MD, DO or equivalent degrees and have completed at least one residency year in an Accreditation Council for Graduate Medical Education (ACGME)-accredited primary specialty followed by two years of medical genetics and genomics residency training. Combined medical genetics and genomics training programs are also available with pediatrics, internal medicine, maternal fetal medicine, and reproductive endocrinology and infertility. Candidates completing residency training in medical genetics and genomics are eligible to seek board certification through the ABMGG. The ABMGG is a member board of the American Board of Medical Specialties (ABMS). Information about training requirements for individuals with doctoral degrees earned outside the United States, Canada or Puerto Rico and for those who have received graduate medical training outside the United States is available on the Foreign Medical Graduates Credentials Review page of the ABMGG website.

Clinical Lab Geneticists

From the American College of Medical Genetics and Genomics (ACMG): Clinical laboratory geneticists direct specialized clinical laboratories that perform testing for inherited and acquired genetic disorders. They hold ABMGG certification in clinical biochemical genetics, laboratory genetics and genomics (LGG), or both. Clinical laboratory geneticists are an integral part of the healthcare team and work in diverse laboratory settings such as academic medical centers, reference laboratories and the biotechnology industry. Biochemical laboratory geneticists use mass spectrometry and other biochemical laboratory technologies to evaluate patients for inherited metabolic disorders. LGG-certified individuals use genetic and genomic laboratory methodologies to investigate the molecular basis of inherited and acquired conditions in patients. Clinical laboratory geneticists also interpret genetic, genomic and biochemical test results in the context of a patient’s medical and family history and nongenetic test results, and they provide comprehensive reports to ordering clinicians that include descriptions of the clinical implications of the test results for the patient and discussion of the implications, if any, for the patient’s family members. Both biochemical laboratory geneticists and LGG-certified geneticists also frequently conduct translational research, teach and carry out other educational and administrative activities. Clinical laboratory geneticists hold PhD, MD, DO or other similar degrees. They have completed a two-year fellowship in an ABMGG-accredited clinical biochemical genetics or LGG training program; candidates seeking training in both specialties complete additional training for the second specialty. Candidates completing the required accredited fellowship training are eligible to seek board certification through the ABMGG. Information about training requirements for individuals with doctoral degrees earned outside the United States, Canada or Puerto Rico and for those who have received graduate medical training outside the United States is available on the Foreign Medical Graduates Credentials Review page of the ABMGG website.

Genetic Counselors

From the American College of Medical Genetics and Genomics (ACMG): Genetic counselors are healthcare professionals who integrate the science of medical genetics and genomics with the art of counseling. They work in clinical, laboratory, research, public health and other settings where genetic and genomic education, tests and services are delivered in collaboration with a medical geneticist or other physician. Genetic counselors are trained to provide a wide variety of services to individuals and families including assisting with the collection and review of medical and family histories; assessing—and then educating patients about—genetic risks and options for genetic testing; providing pretest counseling to help patients understand the capabilities and limitations of genetic and genomic tests; facilitating informed consent for testing; helping interpret genetic and genomic test results—discussing complex concepts in an understandable manner; and providing posttest genetic counseling to help patients understand the implications of test results for themselves and their family members. Genetic counselors also counsel patients and families to cope with genetic diagnoses and manage genetic risks. Genetic counselors commonly specialize in one area of medicine such as prenatal and preconception care, pediatric, cancer, cardiovascular or neurologic care, or any number of other areas of medicine. They frequently work alongside other healthcare providers including physicians, laboratory geneticists, nurses, dieticians and physician assistants. In addition, genetic counselors often help carry out research. Genetic counselors hold bachelor’s degrees and have completed a two-year master’s degree program accredited by the Accreditation Council for Genetic Counseling (ACGC). Candidates graduating from an accredited master’s degree program in genetic counseling are eligible to seek board certification through the American Board of Genetic Counseling, Inc. (ABGC). An increasing number of states now require licensure to practice as a genetic counselor.