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ACP 2019: What internists need to know about genetics


Internists have a major role in helping patients understand and manage their genetic conditions.

genetics, internist, genomic medicine, precision medicine, genetic disease


When Matthew Taylor, MD, PhD, began the process of choosing a medical specialty, he made a list of the disciplines he thought would evolve significantly during his career. Of the various areas he considered, the one he kept coming back to was genetics. 

Clearly, he was right. The breadth of genetic knowledge and its applicability to patient care is expanding rapidly. “We have many, many more [genetic] tests, and often those tests lead to confirming a diagnosis, providing some prognostic information, accessing a clinical trial, and in some cases, actually accessing some disease-specific therapies,” says Taylor, who is double boarded in internal medicine and clinical genetics and is the director of the adult medical genetics program at the University of Colorado Denver. 

Patients’ interest in their genetic information has increased as well, and the growth of the direct-to-consumer genetic test industry means a physician is no longer required. Patients do, however, expect their physicians to help interpret the results and determine appropriate treatment.  

The problem is that there are far too few geneticists to meet this demand, which means that primary care physicians must be prepared to integrate genetics and genomics into their daily practice. But many primary care physicians are not fully confident in their abilities to have genetic conversations with their patients, Taylor says.

“It’s quite frequent for us to see patients come in who have read a lot about what has been suggested they have, and they want to talk about what their mutation will or won’t be,” he says. “That can be daunting for the physician who realizes that the patient may know more about [a genetic condition] than they do, and you can’t always assess whether the patient has it right or not when you don’t really know what they’re talking about.”

At this year’s ACP Internal Medicine Meeting in Philadelphia, Taylor will lead a session focused on what internists need to know about genetics. 

He acknowledges that genetic diseases tend to be rare and unfamiliar to internists, so it’s difficult to have a comprehensive discussion about genetics without a disconnect from clinical practice. However, he will cover areas that most internists should expect to encounter, including what to do if a patient requests interpretation of genetic test results, how to determine if a patient might have a condition for which genetic testing is available, and how to assess if testing would have any utility for a patient and/or the patient’s relatives. 

Beyond attending this session, practicing internists looking to strengthen their competency in genetics may have to turn to a self-study approach, unless they want to go back to medical school. Taylor recommends guiding CME to focus more on genetics, attending genetics conferences, and reading the literature. 

And while it’s understandably difficult for internists in busy practices to devote additional time to learning more about genetics, Taylor believes it’s imperative. “If you’re an internist who is looking at retirement in the next couple of years, no problem. But if you’re just starting out or you’re in the midst of it … genetic and genomic medicine has arrived,” Taylor says. “And internists have a really critical role to play.” 

Taylor’s ACP 2019 session, “Genetics: What the Internist Needs to Know,” will take place on Thursday, April 11 at 7:00 a.m.





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© National Institute for Occupational Safety and Health