Many students equate the word genetics with research, and they’re not aware that the clinical specialty of medical genetics exists. [© uwimages - Fotolia.com]
Natalie Gallant, M.D., knew she wanted to be a doctor since she was five. But only in the last year has she set her sights on a specialty in medical genetics, and only then after completing a predoctoral NIH T32-funded research fellowship year at the University of Pennsylvania as part of her medical school education.
“I stumbled upon this conference on genetic disorders affecting the skin in children. There was a very interesting case that struck me. I learned that the specialist who was the sleuth and figured out what was going on was a geneticist,” Dr. Gallant told GEN. “Had I not done that, I would not have known about the medical specialty of medical genetics.”
Very quickly afterward Dr. Gallant, a student in her final year of a fellowship in medical biochemical genetics through the University of California, Los Angeles, intercampus program determined to learn as much as she could about genetics, arranging for clinical electives at Children’s Hospital of Los Angeles and the UCLA intercampus program.
Last year she finished a combined residency in pediatrics and med genetics. That experience exposed her to a boy with incontinentia pigmenti and Klinefelter syndrome, which in turn sparked her interest in an interview with David L. Rimoin, M.D., Ph.D., the pioneer geneticist who died May 27. He directed the Cedars-Sinai Medical Genetics Institute, where Dr. Gallant arranged for an additional clinical elective.
“I gain a tremendous amount of satisfaction interacting with families who have rare conditions and being a physician who will be able to explain to them what the mechanism of that condition is, what it means for them,” added Dr. Gallant. “We are discovering more mechanisms of treatment, so to the type of physician that really needs to treat disease, this field is going to appeal to that type of physician.”
Finding and training more residents like Dr. Gallant is a priority of the accrediting body for medical genetics programs, the American College of Medical Genetics and Genomics (ACMG), Kathy Ridgely Beal, the group’s director of public relations, told GEN.
A Sparse Field
One key reason for the concern of medical professionals is the so-far sparse number of professionals in medical genetics. As of last year, the American Board of Medical Genetics (ABMG) has certified 1,419 clinical (physician) geneticists. That figure doesn’t include another 2,700 professionals who are board-certified genetic counselors active in the U.S., according to the American Board of Genetic Counseling.
At present, the U.S. has one full-time clinical geneticist per 600,000 population, based on the 2012 population estimate of 313 million Americans. That’s less than half the standard of 1 per 250,000 set in a 2004 report by the Royal College of Physicians.
Wherever they practice, those clinical geneticists spend about 45% of their time in direct patient care, with the remainder of their time used for directing clinical genetics laboratories, conducting research, teaching, and carrying out administrative tasks.
That gap exists even though roughly two-third of the nation’s medical schools house at least one category of program: 49 have accredited residency programs in medical genetics training 81 on-duty residents during the current 2012–13 academic year, according to the American Council on Graduate Medical Education. ACGME also accredits another 34 programs in molecular genetic pathology with 43 on-duty residents, and 11 programs in medical biochemical genetics with just five residents on duty.
Faculty and Funding
“The challenges include, first of all, having an adequate number of faculty to sustain a program. Not all schools have enough people on staff that can do the big credible, wide-ranging programs. That’s been a challenge,” Bruce R. Korf, M.D., Ph.D., FACMG, president of the ACMG Foundation for Genetic and Genomic Medicine, told GEN.
“The second challenge is finding the funding to support the program. These can be supported out of GME funds, graduate medical education funds. It is possible to do that,” Dr. Korf said. “But not all schools have access to all these in the kind of numbers that are needed, and so there are definitely places that find it difficult to be able to afford a medical genomics residency program to be able to afford to have a medical genetics residency program.”
It is not known how many of the clinical geneticists are actively seeing patients in the U.S., though that figure is estimated by ABMG to be about 1,200.
Available clinical genetics training slots in the U.S. are only about 50% filled. Even worse: As of October 2011, 14 states only had between one and five clinical geneticists; one state had none.
Hoping to draw more students into residencies in the field, ACMG has posted on its YouTube channel a 5-minute, 37-second video that received 637 views as of noon on Nov. 6. "Medical Genetics is the Future of Medicine" includes interviews with current and recent med school graduates trained in medical genetics, and footage of actual patient care, team meetings, and other activities.
“Our concern has been that a lot of medical school students don’t realize that they could be trained in medical genetics,” Dr. Korf said. “Genetics is usually something that’s usually quite visible to the students in their first year and then after that it seems that many don’t realize, because at that point they’re not even sure where they’re going to go into. And then in the subsequent years, there may not be that much exposure to genetics, so they don’t know that when it comes time to find a residency, they actually could find a residency in genetics.”
With the video posted last month, it’s still too soon to assess its effectiveness, said Dr. Gallant, who shaped the content, style, and editing of the video as a member of the ACMG Task Force on Genetics Education and Training. The task force seeks to expose med students to the genetics field, and prepare the medical community for the paradigm shift to occur as genomic analysis becomes widespread in clinical practice.
“Students across the country typically equate the word genetics with research and, depending where they’re at, they don’t have that clinical exposure to know what kinds of patients we treat, and that we do provide management and treatment of our patients. They are just not aware that the clinical specialty exists,” Dr. Gallant said.
Beal said the video was one of several efforts through which ACMG is trying to attract more college and medical students to pursue careers in medical genetics and genomics. The group’s ACMG Summer Genetics Scholars Program enables medical students to apply for paid summer genetics positions under the mentorship of board-certified geneticists. ACMG also maintains Medical Student Interest Groups, conducts free student sessions at its Annual Meeting, and offers student membership discounts.
Those efforts and others to draw medical geneticists are likely to bear fruit once genomic sequencing and analysis become tools as central to clinical practice as the stethoscope, though that is happening more slowly than expected. Remember all the pundits who predicted the “$1,000 genome” would arrive by now?
For now, groups like ACMG and ABMG should continue efforts to expand the number of residents by spotlighting the clinical career path for geneticists, to combat the myth of an all-academic field. They may also wish to take a page from the book of big biopharma and research institutions by focusing future video projects less on assembling quick-cut comments from residents, but on telling the stories of patients (the younger and older, the better), and the help these patients are receiving through geneticists and their technologies.