The ABMGG certifies individuals in various specialty areas of medical genetics and genomics. Medical genetics and genomics encompasses the application of genetics and genomics to medical care and as such is recognized by the American Board of Medical Specialties (ABMS) as one of the primary medical specialty certification boards.

ABMGG currently offers certification in three specialties and two subspecialties, outlined below:

Clinical Genetics and Genomics

A clinical geneticist is a physician with either a medical degree, who undergoes specialized training in medical genetics and genomics through an ACGME-accredited residency program. This training encompasses a broad spectrum of skills, including diagnosing and managing genetic disorders, interpreting individual and family histories, integrating clinical and genetic information, conducting risk assessments, and providing counseling services. They must also possess expertise in interviewing techniques, psychological support, and knowledge of healthcare resources for referrals. Ultimately, clinical geneticists are equipped to offer comprehensive genetic diagnostic, therapeutic, and counseling services to patients and their families.

Clinical Biochemical Genetics

A clinical biochemical geneticist possesses a doctoral degree (M.D., D.O., Ph.D.) and expertise in directing and interpreting relevant biochemical analyses for diagnosing and managing human genetic diseases. They serve as consultants on laboratory diagnosis of a broad spectrum of biochemical genetic disorders, demonstrating proficiency in supervising diagnostic laboratory operations, adhering to regulatory standards, and ensuring quality control. Additionally, they exhibit broad knowledge spanning basic biochemistry, genetics, and the application of biochemical techniques in disease management, along with diagnostic and interpretive skills across various biochemical genetic problems. Effective communication of laboratory results to medical genetics professionals, clinicians, and patients is integral to their role.

Laboratory Genetics and Genomics

A professional in Laboratory Genetics and Genomics holds a doctoral degree (M.D., D.O., Ph.D.) and is proficient in directing and interpreting both clinical cytogenetic and molecular genetic analyses essential for diagnosing and managing human genetic diseases. Serving as consultants for a wide array of molecular and chromosomal-based disorders, they oversee diagnostic laboratory operations, ensuring adherence to regulatory standards and quality control measures. Their expertise encompasses understanding the etiology, variability, and clinical management of cytogenetic and molecular-based disorders, along with a grasp of molecular and chromosome biology. They adeptly apply evolving technologies like karyotype, FISH, microarrays, and next-generation DNA sequencing to diagnose diseases and guide assay development and validation. Communication skills are integral as they discuss results with referring providers and patients, facilitating further testing and clinical management in collaboration with the clinical team.

Medical Biochemical Genetics

The subspecialty of medical biochemical genetics is available to individuals who are certified in clinical genetics and genomics. Expertise in this area encompasses the evaluation, prevention, treatment, and discovery of diseases due to genetic defects in human biochemical processes. A medical biochemical geneticist deals with the evaluation and treatment of patients with biochemical genetic disorders, defined as inborn errors of metabolism at any age of onset.

Molecular Genetic Pathology

The subspecialty of molecular genetic pathology is available to individuals who are certified in clinical genetics and genomics or by the American Board of Pathology. The focus of a molecular genetic pathologist is on diagnosing and confirming diagnoses of Mendelian genetic disorders, diseases of human development, infectious diseases, and malignances, as well as assessing the natural history of those disorders. Gene structure, function, and alteration, and laboratory techniques for diagnosis, treatment, and prognosis for individuals with related disorders are integral for this subspecialty.