Precision medicine is poised to be a potential game-changer in health care. Yet, the United States has fewer than 2,000 board-certified medical geneticists in the workforce, a number “insufficient to meet the demand,” according to authors of a 2015 report published in Science Translational Medicine. This means that physicians without specialized genetics training may be called on to order genomic tests and apply the results to patient care, the authors continued. They also pointed to studies that found physicians felt unprepared and had “low confidence in their ability to apply genomic data to patient care.”
In January 2015, President Barack Obama launched his Precision Medicine Initiative. The announcement provided an exclamation point to a trend that has been shaping medicine for some time—using the growing knowledge of the human genome to personalize treatment.
But are present and future doctors ready for the burgeoning use of genetics? As genetic testing becomes easier, faster, and cheaper, patients, too, are starting to bring direct-to-consumer genetic tests from companies such as 23andME to their family doctors for explanations of the health implications for inheritable diseases.
“With the virtually exponential rise in genetic information, it is a challenge for practicing clinicians to keep up with such a constantly changing world,” said Miriam Blitzer, PhD, professor of pediatrics and head of the Division of Human Genetics at the University of Maryland School of Medicine (UMSOM). “Even mid-career physicians had little exposure to current genetic approaches and testing for illness included during their medical training.”
“There’s a specific deficit in training about how to use the information clinically.… We know about the human genome. But how do I apply that to my patients?”
Kristin Weitzel, PharmD
University of Florida College of Pharmacy
Even more challenging—and perhaps more important to the practice of medicine—is knowing how to translate genetic research to clinical practice, said Kristin Weitzel, PharmD, associate director of the Personalized Medicine Program at the University of Florida College of Pharmacy.
“There’s a specific deficit in training about how to use the information clinically,” said Weitzel. “We may know that genetics makes a difference. We know about the human genome. But how do I apply that to my patients? How do I know what’s actionable? When do I need to order a test? There’s a real lack among all health professional education, in part because we’re still learning those things. It’s an emerging science.”
Changing the curriculum's DNA
In the past, many medical schools taught genetics as an introductory course early in the students’ education and revisited the subject infrequently. Today, more schools are treating genetics as a reappearing thread woven through their curricula.
“Precision medicine is becoming an integral part of care in every area of medicine, and it is vital to prepare our future physician workforce to use genomics to improve health,” said Alison Whelan, MD, AAMC chief medical education officer. Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.
At the University of California, San Francisco (UCSF), School of Medicine, genetics has been “sprinkled through the first two years,” said Robert Nussbaum, MD, former chief of the Division of Genomic Medicine at UCSF and now chief medical officer of the genetic information company Invitae. “We kind of came in on a parachute and dropped into cardiology, dropped into oncology, or dropped into gastroenterology and metabolism—genetics as a theme, spread throughout, as opposed to a defined course or discipline.”
Likewise, UMSOM has moved to a more integrated presentation of genetics and genomics. According to Linda Jeng, MD, PhD, geneticist and associate professor of medicine, “When you front-load something and don’t come back to it, it gets forgotten. Whereas when you teach [students] something and you come back and bring it up again, you’re sending that signal that this is really important.”
At UCSF, Nussbaum and genome scientist Jeanette McCarthy, PhD, developed a seven-session Coursera course for third- and fourth-year medical students in clinical tracks and for practicing physicians. Said Nussbaum, “The idea is to give a very broad and extremely relevant introduction to the role genetics plays in clinical practice and to help the people who participate in this course be more sophisticated users of genetic tools—everything from taking a family history to genetic testing, including pharmacogenetic tests.”
“The huge challenge is that this is a fast-moving field. Every day new [genetic] variants are identified and published.”
Caer Rohrer Vitek, MS
Bassem R. Haddad, MD, professor of oncology and obstetrics and gynecology at Georgetown University Lombardi Comprehensive Cancer Center, developed his own genetics course that was released online in 2014 through edX.org, a consortium of universities that provides massive open online courses. Haddad will begin using his online course in February 2017 to teach a master’s program in systems medicine and plans to use this course in the future for continuing medical education credits.
Haddad and colleagues are finalizing another eight-week online course—a sort of bioinformatics for beginners—with a Big Data to Knowledge (BD2K) grant from the National Institutes of Health. Because genetic labs around the country are “generating terabytes of data every single day,” Haddad explained, he and two bioinformatician colleagues filmed the course to show clinicians and researchers how big data in medicine is gathered, analyzed, and used clinically.
Applying genomics to patient care
Some institutions have been onboard with genetics programs before the current swell in interest. The Johns Hopkins University School of Medicine rolled out its Genes to Society curriculum in 2009. The curriculum was designed to teach medical students to view health and illness through the lenses of genetics, environment, and socioeconomics.
The University of Maryland teaches students about the medical implications of genetics by having students analyze a portion of their own genome. “We decided four years ago to offer this elective for students between their first and second years who wanted to learn more about how genomics was going to impact the practice of medicine,” said Blitzer. “Our goal is that the students we train now have the tools and knowledge to appreciate how genomics medicine applies to their patients’ health. We want to make sure that they’re prepared.” Blitzer noted that by the time her current students are practicing medicine in six or more years, “the genomics components of precision medicine are going to be part of their daily practice.”
Baylor College of Medicine, another institution that has been on the genetics forefront, established the Genetics Track in 2011. Lorraine Potocki, MD, Genetics Track director, said she didn’t want to jump on “hype” about the importance of decoding the human genome but understood the need for students “to have a functional vocabulary and understanding about genetics.” Baylor students in this track are required to do four weeks of clinical genetics. They attend several genetics lectures each year, a seminar series, and grand rounds in genetics. They must also complete a research or community project.
At Mayo Clinic, the Center for Individualized Medicine integrates programs in biomarker discovery, clinomics, epigenomics, microbiome, and pharmacogenomics. The center provides first- and second-year medical students with a one-week “selective” of self-directed study of genomics. Students take lab tours “so they can appreciate what happens in the background, the basic science of it and how laboratory support is kind of the basis of all this translation,” said Mayo education specialist Jyothsna Giri, MD. “It is an awful lot to cover.… We make sure that we tell them that this is the tip of the iceberg.”
The learning curve of precision medicine reaches beyond educating students and residents, though, to supporting practicing clinicians, added Caer Rohrer Vitek, MS, an assistant professor of laboratory medicine and pathology and the center’s education operations manager. “The huge challenge is that this is a fast-moving field,” she said. “Every day new [genetic] variants are identified and published. There is no way a practicing physician can keep up with this material. It’s impossible.”
As Whelan observed, “The rapid pace of discovery in the field of genomic medicine makes the strongest case for our students to become true lifelong learners.”