Today’s consumers have ready access to genetic information with easy-to-order test kits routinely being marketed directly to them. Some of these services inform individuals of their risk factors for a list of treatable diseases—from glaucoma to Type 2 diabetes to different types of cancer.
But even as patients are learning the sometimes intricate details of their DNA, the question arises: Are their physicians equally as informed?
To address this concern, in partnership with the American Society for Clinical Pathology (ASCP), Chicago, Richard Haspel, MD, FASCP, of Beth Israel Deaconess Medical Center (BIDMC), was recently awarded a 5-year, $1.3 million R25 grant from the National Institutes of Health (NIH) to further develop a resident genomic pathology curriculum, based on an initiative first developed 3 years ago.
“Although the completion of the Human Genome Project nearly a decade ago ushered in a new era of personalized medicine, when it comes to genomic testing and applications of this new data, the medical profession has lagged behind the business and technology communities in terms of preparation,” says Haspel, assistant professor of pathology at BIDMC and Harvard Medical School, Boston. “As a result, while genetic testing kits are already available to consumers, by and large, physicians are not equipped to provide patients with guidance and advice to help them to interpret results.”
Genomic technology has applications beyond direct-to-consumer testing, and has already been used to direct chemotherapeutic treatment and to identify the cause of rare genetic disorders. As directors of diagnostic laboratories, pathologists are in an ideal position to serve as “gatekeepers” of genomic medicine, helping to guide both physicians and patients alike in understanding genomics information to interpret and act on this wealth of data.
It was in 2009 that BIDMC created the first genomic medicine training program for pathology residents.
In 2010, building on this work and with the backing of the Pathology Residency Program Directors Section of the Association of Pathology Chairs, the Training Residents in Genomics (TRIG) Working Group was formed. With key administrative support from the American Society for Clinical Pathology (ASCP), this group, chaired by Haspel, consists of experts in molecular pathology, genetic counseling, and medical education.
Using the BIDMC model as a starting point, the TRIG Working Group developed a revised curriculum, creating a series of four PowerPoint lectures with notes (available free at www.pathologytraining.org/trig_lecture.htm). It has also been actively involved in presentations at major pathology and genetics meetings, published a peer-reviewed article outlining a careful approach for teaching health professionals about novel technologies (Personalized Medicine. 2012; 9: 287-293), and helped create the first genomics-related questions for the ASCP Resident in-Service Examination (RISE) for pathology.
“This allows us to bridge the gap between genomic research and its application to patient care,” says E. Blair Holladay, PhD, executive vice president of ASCP. “The analysis of whole genomic sequencing will have a major impact on the diagnosis and treatment of patients. As a leader in education, ASCP will help translate this research into practical, applied learning for resident pathologists.”
The new NIH grant will enable Haspel and his collaborators to expand on the genomic medicine training program, create educational resources, including online modules, and to test efficacy at four residency programs. ASCP is providing a wide range of educational, administrative, and technical support for the delivery of the innovative educational solutions. It has added an annual survey and a quantitative test component in the RISE examination to measure the genomics knowledge, attitudes, and skills of pathology residents. In addition, ASCP is designing and providing delivery solutions that will include live and online multimedia educational programs.
“Pathologists direct clinical laboratories and have the expertise to ensure accurate testing and result reporting,” Haspel says. “It is our responsibility to prepare our trainees for the application of genomic testing to patient care.”
Beth Israel Deaconess Medical Center is a patient care, teaching, and research affiliate of Harvard Medical School and currently ranks third in NIH funding among independent hospitals nationwide. BIDMC is clinically affiliated with the Joslin Diabetes Center and is a research partner of the Dana-Farber/Harvard Cancer Center.