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INTRODUCTION

The practice of genetic and genomic medicine spans many professions, and it can be helpful to be familiar with the diverse roles to determine from whom to seek advice and the background and likely skillset of collaborators in patient care. The following is not exhaustive, but covers the most common types of genetics professionals with which one might interact.

MEDICAL GENETICIST

  • This professional is almost always an MD (or DO) who has completed training in Medical Genetics and in the United States is board eligible or certified by the American Board of Medical Genetics and Genomics (ABMGG). In the United States, physicians seeking training in Medical Genetics must complete some training in a more general field of medicine. This can range from a full residency and board certification to a single year of general training without board certification. The majority of medical geneticists who see patients in the United States did their general training in Pediatrics, Internal Medicine, or Obstetrics and Gynecology. A smaller number trained in other fields such as Dermatology, Surgery, or Neurology.

  • Some physicians who complete training in Medical Genetics are pathologists and are critical for the implementation and interpretation of genetic laboratory tests.

  • Other countries have different training models for Genetics, such as an inclusive program where pediatric, adult, and obstetric medicine are combined into the same program for all geneticists.

  • Among physician medical geneticists, there is a substantial degree of subspecialization. Some geneticists see a broad range of ages and conditions (sometimes referred to as “General Genetics”). Others only see adult conditions (cardiovascular disease, cancer, neurodegeneration). Other common specialties involve metabolic/biochemical disease, neurologic disease, autism, skeletal dysplasia, prenatal genetics and maternal and fetal medicine, or diseases confined to one organ system (eye, skin, etc.). Due to the vastness of genetic knowledge, specialization is becoming more common, with each physician practicing in some subset of the above fields. It is very important to identify the proper specialist for any patient referral: no two geneticists are alike!

NONGENETICIST SPECIALIST PHYSICIANS

  • More and more, the application of genomic medicine is taking place under the care of physicians who do not have formal training in Medical Genetics but have experience diagnosing and treating inherited conditions unique to their specialty, which can span the full breadth of medicine and surgery. Not uncommonly, these specialists have more expertise in a particular condition than a general geneticist. An example might be a dermatologist who specializes in inherited skin conditions. Consulting a medical geneticist for any disease involving DNA is probably not feasible, but excellent collaboration among all specialists is a worthy goal to be sure that tests are sent and interpreted appropriately and that pre- and post-test counseling is adequate. Team medicine is certainly an important trend that without question will involve genetic and genomic medicine.

GENETIC COUNSELOR

  • Genetic counselors are nonphysician specialists ...

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