The field of medical genetics is swiftly evolving. It's a period of rapid scientific discovery, new technologies and subsequent translation into medical practice, public policy and public health. But what role should the Medical Genetics specialist have since genetics impacts all patients and specialties in some way? In an effort to clearly define the changing role of the specialty of Medical Genetics and the distinction between Medical Geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics (ACMG) has has just released a new "Scope of Practice of the Specialty of Medical Genetics" document, revising its earlier 2008 Policy Statement. The ACMG is the specialty society for the American Board of Medical Genetics and Genomics diplomates and others, providing leadership and resources to facilitate the delivery of clinical and laboratory medical genetics services.
ACMG President Gerald Feldman, MD, PhD, FACMG said, "We wanted to clearly define the value that board-certified Clinical Geneticists and Clinical Laboratory Geneticists provide, from their roles performing genetic testing interpretation in the diagnostic laboratory to the medical genetics consultation. The ACMG Scope of Practice document also establishes how our specialty interacts with other members of the medical genetics healthcare team and where we find common ground with other medical specialists."
Feldman explained the genesis of the new document, "The ACMG Board of Directors felt that it was critical to revise the original 2008 document to answer the who, what, where, when, why and how in the current era of genomic medicine, which involves other genetics health professionals, such as genetic counselors, genetic nurses, and other lab professionals performing genetic and genomic testing."
The Scope of Practice document is available at
The "ACMG Scope of Practice of the Specialty of Medical Genetics" Policy Statement states that the specialty includes:
- Genetic consultations, in both inpatient and outpatient settings
- Genetic counseling
- Treatment of genetic diseases, involvement in clinical trials and natural history studies leading to approval and use of new, orphan and other drugs
- Early detection and prevention of genetic diseases or their complications
- Performing genetic and genomic testing, interpreting such results and providing these results to physicians to facilitate diagnosis, management and treatment
- Activities outside of direct patient care, including public health administration, health professional education and research.
"The delivery of genetic and genomic healthcare is often complex and requires the combined knowledge of various specialists, " said Michael S. Watson, PhD, FACMG, executive director of the American College of Medical Genetics and Genomics. "This ACMG Scope of Practice document clearly defines the role of the Medical Geneticist and their broad and critical role in direct patient care, genetic counseling, education and laboratory medicine. This document also clearly lays out the value of a genetics consultation by a board-certified clinical geneticist and the importance of board-certified laboratory geneticists in the interpretation of biochemical, cytogenetics and molecular test results. As the field of genetics and genomics continues to evolve and new technologies and treatments become available, the ACMG and our members will continue to play a critical role in meeting the needs of patients and in advancing public health."
About the American College of Medical Genetics and Genomics (ACMG)
Founded in 1991, ACMG is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. The American College of Medical Genetics and Genomics provides education, resources and a voice for nearly 1800 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. The College's mission is to develop and sustain genetic initiatives in clinical and laboratory practice, education and advocacy. Three guiding pillars underpin ACMG's work: 1) Clinical and Laboratory Practice: Establish the paradigm of genomic medicine by issuing statements and evidence-based or expert clinical and laboratory practice guidelines and through descriptions of best practices for the delivery of genomic medicine. 2) Education: Provide education and tools for medical geneticists, other health professionals and the public and grow the genetics workforce. 3) Advocacy: Work with policymakers and payers to support the responsible application of genomics in medical practice. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG's website offers a variety of resources including Policy Statements, Practice Guidelines, Educational Resources, and a Find a Geneticist tool. The educational and public health programs of the American College of Medical Genetics are dependent upon charitable gifts from corporations, foundations, and individuals through the ACMG Foundation for Genetic and Genomic Medicine.