ACMG’s new Scope of Practice aims to pin down the key elements of a medical geneticist in an ever changing landscape.

Medical genetics is evolving at a terrific rate. Each week brings fresh news that the underlying genetics of a disease has been all or partially elucidated, or the beginnings of a revolutionary new clinical trial. Within this expanding landscape for genomic medicine, what are the roles and responsibilities for medical geneticists?

In a new position statement, published last week in Genetics in Medicine, the American College of Medical Genetics and Genomics (ACMG) have outlined their ‘Scope of practice of the specialty of medical genetics‘, with the intention of clearly defining the value and responsibilities of board-certified clinical geneticists.

Speaking to FLG, ACMG President Gerald Feldman, MD, PhD, FACMG said “The members [of ACMG] were facing this medical explosion, that many other physicians and health care professionals were faced with: not only what genomic medicine is but more importantly for the specialty of medical genetics – how to best outline the current and future practice of medicine for the medical geneticist.” 

“What we are trying to do is define the role of a medical geneticist – both as a collaborator with other specialties and to demonstrate the value that a medical geneticist can provide to patients and other specialties.”

ACMG’s members were closely involved in the drafting of the new Scope of Practice, with rounds of commenting and consultation contributing to the final document. The new document replaces a policy statement originally published in 2008, and as Dr Feldman explains a lot has changed in seven years. “The explosion of genetic and genomic technology, such as next generation sequencing, really offers opportunities for diagnosis and management of patients that were unheard of in 2008. This includes treatment options such as precision medicine that were only just beginning to take shape,” he said. 

So what does a 2015 medical geneticist look like? ACMG defines the main responsibilities as:

  • 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.”

Within the US third party payers have a significant role in shaping and influencing the healthcare system. In a statement Dr Feldman 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.”

This is certainly a brave new world for clinicians. According to Dr Feldman, “the rapidly changing environment of genetics, that now includes genomics, was broadening the role that a medical geneticist plays.” As genomics and genetics continue to play a bigger role in the diagnosis and treatment of disease there is little doubt that medical geneticists are uniquely positioned to take the lead in the new field of genomic medicine.