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With $1.3M NIH Grant, Beth Israel to Advance National Genomics Curriculum for Pathology Residents

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With a five-year, $1.3 million NIH grant, Beth Israel Deaconess Medical Center is planning to enhance a national genomic residency curriculum for pathologists to prepare them for their critical role in delivering genomic medicine.

Noting the growing importance of genomic technologies in healthcare, BIDMC in 2009 developed a program to educate its pathology residents about the emerging field. Out of this effort, experts in molecular pathology, genetic counseling, and medical education formed the Training Residents in Genomics, or TRIG, working group, which has subsequently developed a teaching curriculum and lectures that other medical centers, institutions, and hospitals can use to train their pathologists about genomic medicine.

With the new NIH grant, BIDMC and the TRIG working group plan to create additional education resources, such as interactive online training modules that will teach pathologists to, for example, annotate genomic data, assess whether a particular variant is clinically significant, and create a genomic pathology report with information that experts agree is pertinent to include. The American Society for Clinical Pathology will provide administrative support and oversee the design educational materials.

A major aim of this project is to establish a "high quality, proven curriculum in genomic medicine, with a major focus on cancer care" at 90 percent of pathology residency programs in the US by the end of the five-year NIH grant period, said Richard Haspel, pathology professor at BIDMC and chair of the TRIG working group.

According to Haspel, pathologists are indispensable to the advancement of genomic medicine. "All genomic medicine is genomic pathology," he told PGx Reporter. "Currently, any time you get a laboratory test done, it's the pathologist who makes sure that it's done correctly, and that it provides quality results. When clinicians have questions about how the test was run, [pathologists] are the ones that answer them."

Single gene tests, such as BCR-ABL transcript testing for leukemia, are already performed by pathologists at molecular testing labs. But the field of genomic medicine is advancing rapidly, and pathologists, as much as other physicians, will face new challenges and will need to keep abreast of the latest technologies.

"We're not going to advance genomic medicine alone," Haspel said. "We need ethicists, genetic counselors, the oncologists. But pathologists really need to be at the table because we understand how to validate tests, how to incorporate molecular testing into pathology reports."

According to a paper published in Personalized Medicine last year on TRIG's educational efforts by Haspel and others, the Accreditation Council for Graduate Medical Education requires all pathology residency programs in the US to train their students in "molecular biology," which largely focuses on single-gene testing. However, the paper's authors found that ACGME's evaluation of whether residents are proficient in practicing genomic medicine – in terms of specimen preparation, quality control, and diagnostic technologies, such as fluorescence in situ hybridization, PCR, DNA sequencing, and microarrays – was weak.

Furthermore, a 2010 survey of 42 pathology residency program directors revealed that while 93 percent said their programs provide training in molecular pathology, only 31 percent indicated they had developed curricula on current genomic medicine topics, such as direct-to-consumer genotyping, whole-genome sequencing, genomic variation, and ethics related to testing. Among those that didn't currently provide genomic medicine education, 91 percent wanted to start providing this type of training.

The training of pathologists in genomic medicine is particularly critical since new technologies and strategies can be a disruptive force in the way traditional medicine is practiced. For example, in the field of genomic medicine, it can at times appear that hospital pathologists are losing their traditional role in analyzing patients' tissue and running lab tests. In the field of breast cancer, developers of multigene algorithm-based tests, such as Oncotype DX and MammaPrint, largely target oncologists with their marketing efforts, and require that a patient's tissue be sent for analysis to the company's lab due to the proprietary nature of the test.

However, according to Haspel, even when it concerns the small subset of multigene algorithm-based diagnostics, the pathologist still plays a critical role in the overall treatment paradigm of a breast cancer patient. "Pathologists already look at the tissue," Haspel said. "You're not going to run Oncotype DX until you determine whether the patient's tumor is benign or malignant. Who does that? The pathologist."

When the results from single-gene or more complex algorithm-based multigene tests come back, it is up to the pathologist to make sense of the results in terms of the patient's other tests, Haspel added. Moreover, "these companies running molecular or genomic tests should also have pathologists making sure the tests are accurate and precise," he noted. "So, whether it's a pathologist at the hospital or a pathologist at a company … they will need to have training in genomic methods."

Another impending challenge for pathologists is the growing consumer interest in genomic medicine and the rise of direct-to-consumer genetic testing companies, such as 23andMe. "If people can just order a test online without any oversight and then they bring the test report to their doctor, pathologists could be a resource in helping the physician understand [the reports]," Haspel said. "Pathologists can also be a resource at these [DTC genomic testing] companies to help determine the utility of the testing … laboratory testing needs to be under the oversight of a pathologist."

Because the NIH grant is from the National Cancer Institute, the course materials developed by Haspel and his colleagues will have a strong focus on cancer genomics. With physicians also lacking education in genomic medicine, Haspel believes there is an opportunity for pathologists to take a leading role in shaping the way the field moves forward, particularly as whole-genome sequencing becomes more commonplace.

For instance, as more physicians use the genomic characteristics of cancer tumors to inform their decisions about how to treat patients, pathologists will need to become more expert at figuring out how much tissue to resect, from which part of the tumor, and how to integrate that information into the pathology report. "But this could get complicated to the nth degree, because if you're sequencing a whole genome you might pick up other things that have nothing to do with the cancer," Haspel said.

With the NIH grant, Haspel and his colleagues will also evaluate whether the educational tools they have developed are actually improving pathology residents' genomic medicine knowhow. At four residency sites that have agreed to use these training modules, BIDMC will assess pathology residents before and after they've taken the courses, to determine the efficacy of the tools. "There are a lot of educational initiatives, but no one bothers to see if they actually work," Haspel said.

Haspel and his colleagues will also gauge whether its training courses are improving genomic medicine knowledge among pathology residents nationwide, by including specific questions in the ASCP's Resident in-Service Examination (RISE), which is taken by every pathology resident in the country.

"I don't know of an educational research project that's ever used a tool that's this powerful," Haspel said. "Basically, we can ask every pathology resident in the country what they're learning about genomics."

In 2012, the TRIG working group included the first crop of genomic medicine-related questions in RISE. In subsequent years, as genomic medicine becomes more integrated into mainstream care, TRIG and ASCP plan to increase the number and difficulty of the questions in the exam. "We have more knowledge questions, and we're improving our survey questions," Haspel said. "The RISE is given each year. So, each year we're going to improve and improve, until [genomic medicine] becomes like other areas of pathology, … until we can ensure residents know genomic pathology like they know how to read biopsies."

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