The Scope of Medical Genetics: ACMG Updates Rapidly Growing Responsibilities

September 1, 2015


By: David Shifrin, PhD Science Writer, Filament Life Science Communications

A lot changes in seven years. This is especially true when it comes to technology. Even if the scientific and medical worlds don’t have a direct corollary to Moore’s Law, the principle of amazingly rapid advances in technology and knowledge still hold true. With this space being a genetics blog, it’s no surprise that this author, at least, sees genetics and genomics as perhaps the prime example. As we have discussed in this space on numerous occasions, the increase in understanding of genetic principles and complex genetic disease means that a concomitant effort to deal with the myriad associated needs (data processing, ethical considerations, etc.) is absolutely critical.

Thus, the involvement of genetics professionals in clinical practice has grown rapidly, as the community works to fill the needs brought on by its own success. To clarify this role (actually, ‘roles’), the American College of Medical Genetics and Genomics (ACMG) just updated their 2008 scope of practice statement. (The text of the new document can be found here.)

Simply reading through the relatively brief statement, one is struck by the diversity of processes and practices medical geneticists are now involved in. Indeed, the statement used an interesting phrase – “broad and unique” – to describe medical genetics. Interesting in that “broad” often suggests overlap with other fields. While that may be true to some extent in this case, medical genetics has carved out its own unique niche and fulfills its own extensive set of responsibilities.

According to the ACMG statement, there are six main components to the medical genetics scope of practice. These are direct consultations with patients; counseling with patients and their families; treatment-related efforts such as actual treatment of genetic diseases, clinical trials, and other studies; carrying out genetic testing and managing the resulting data; and management, public health, and education-related work.

Another common theme throughout the ACMG statement, as well as any other document related to medical genetics, is the idea of “shared decision making.” This is obvious in the context of direct genetic counseling and interactions between medical professionals and patients. However, the phrase in the context of medical geneticists’ many subspecialties and responsibilities points to the importance of patient engagement through the process. Put another way, the patient’s needs, concerns and maybe even input should be an underlying consideration regardless of whether they are present in the office or if their sample is being analyzed in a lab. Though not part of the ACMG statement, scientists at the basic research level, who may never interact with patients, also must think about engaging the public, and keep the needs and concerns of potential patients in mind as they push forward.

More practically, the statement outlines the specific positions under the umbrella of medical genetics. Clinical geneticists are heavily involved in consultations, which the statement describes as comprehensive assessments that include primary medical providers as well as geneticists, and possibly family members as well as patients. Making connections between physiological findings and genetic factors is a significant part of the process, which falls under the purview of the medical geneticist.

Medical biochemical geneticists undergo additional training to deal specifically with metabolic issues. This includes counseling and collaborative medical management, as well as working towards developing new therapeutics. Clinical biochemical geneticists, on the other hand, are also certified to manage and run CLIA-certified labs. They can also provide an additional level of analysis of test results. Finally, PhD medical geneticists are involved in genetic counseling, as well as compilation and management of test results and information from families.

Though this statement from ACMG is nothing groundbreaking, it is certainly a helpful update to clarify the roles of various members of the genetics community, and it highlights the amazing extent to which genetics has become a routine part of medical care in such a short time.

September 1, 2015


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