Medical Genetics and Genomics

What is a clinical geneticist?

Medical genetics and genomics specialists use genomic information about an individual as part of their clinical care.  They provide comprehensive clinical care throughout the lifespan, that encompasses diagnostic, management, treatment, risk assessment, interpretation of genetic and genomic testing, and counseling for those who have or are at risk for a genetic condition. 

Using state-of-the-art genomic and biochemical genetic testing to assist in specialized diagnostic evaluations, clinical geneticists implement needed therapeutic interventions for patients, from conception through adulthood. The clinical geneticist plans and coordinates screening for genetic diseases involving single gene and chromosomal disorders, congenital anomalies, inborn errors of metabolism, multifactorial conditions, and common disorders with hereditary factors.

How to become a clinical geneticist?

Any medical student with an interest in medical genetics and genomics should contact a board-certified clinical geneticist at their respective institution.  Additional information can be obtained by contacting the American Board of Medical Genetics and Genomics (http://www.abmgg.org) or the American College of Medical Genetics and Genomics (https://www.acmg.net). 

What does a clinical geneticist do?

Medical genetics and genomics is an exciting and rapidly growing medical specialty. Medical genetics and genomics is a primary specialty, not a subspecialty of another primary specialty. These physicians referred to as clinical geneticists, provide comprehensive diagnostic, management, and genetic counseling services for patients with, or at risk for, genetically influenced health problems.

Some clinical geneticists specialize in specific areas, including prenatal genetics, pediatric genetics, biochemical genetics, adult genetics, neurogenetics, cardiogenetics, ophthalmic genetics, or cancer genetics, while others provide a broad scope of practice. Clinical geneticists frequently plan and coordinate large-scale screening programs for inborn errors of metabolism and other genetically influenced conditions, while others may direct and participate in clinical trials for treatment of genetic conditions.

As genetic factors underlying many common medical conditions—from diabetes to hypertension—are becoming better understood, clinical geneticists are increasingly involved in the care of these patients, including the management of complex patient care that cuts across many different specialties.  They develop long-term relationships with patients and their families as they coordinate and manage their care and provide consultative services to other specialists who require the expertise of a clinical geneticist.

Frequently, clinical geneticists work in academic medical centers and are actively involved in medical teaching and research in addition to their clinical activities.  With the growing importance of genetics and genomics in human disease, clinical geneticists may work in the areas of public health care policy, managed care, or private practice. Given the variety of work options available to a clinical geneticist, it is a specialty that provides an excellent opportunity for work-life balance.

Clinical training requires completion of a 24-month ACGME-accredited residency in medical genetics and genomics. At least one year of training in another ACGME-accredited residency with 12 months of direct patient care (e.g., pediatrics, internal medicine, OB/ GYN, family medicine, family medicine) is necessary prior to beginning a medical genetics and genomics residency.

Another training pathway is matching into an approved, combined training programs in pediatrics/medical genetics and genomics or internal medicine/medical genetics and genomics directly from medical school. Approved, combined training programs with maternal-fetal medicine or reproductive endocrinology/infertility are also available following completion of an OB/GYN residency.

Clinical geneticists apply the specialty knowledge across broad areas of medical practice and are on the front line of an exciting and growing specialty and great career flexibility.