Clinical pathology selected abstracts

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Editor: Deborah Sesok-Pizzini, MD, MBA, chief medical officer, Labcorp Diagnostics, Burlington, NC, and adjunct professor, Department of Clinical Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia.

Integration of genomic medicine in pathology resident training

July 2021—Pathologists play a key role in molecular and genomics testing, so pathologists-in-training should demonstrate an understanding of genetics concepts and the utility of molecular and genomic testing in patient care. A list of published competencies for training includes determining sample adequacy, ensuring that appropriate molecular tests are ordered, and effectively communicating genomic testing results through pathology reports and interdisciplinary teams. An Association for Molecular Pathology resident curriculum also includes essential topics, such as describing how the clinical impact of a sequence variant can be determined and describing the utility of online tools for molecular analysis. The Training Residents in Genomics (TRIG) working group was formed in 2010. It is made up of experts in education, molecular pathology, and genetics. The TRIG working group has contributed survey questions to the Resident In-Service Examination (RISE) since 2012. The authors of this study reported the responses to the survey questions developed by the TRIG working group for the 2019 RISE as well as the scores for knowledge questions in genomic medicine and molecular pathology. The American Society for Clinical Pathology RISE exam is administered in every U.S. pathology residency program and is used to benchmark the level of pathology resident molecular and genomics training across programs. The authors noted that in the 2013 RISE assessment, 42 percent of residents responded that they had no training in genomic medicine. The 2013 RISE exam provided a baseline level of genomic training of postgraduate year four (PGY4) pathology residents across the United States, which was 58 percent. In 2019, 2,529 residents took the RISE exam and approximately 80 percent reported genomic medicine training, while nearly 100 percent reported training in molecular and gastrointestinal pathology. PGY4 pathology residents who took the 2019 RISE exam also indicated less perceived knowledge and ability related to genomic and molecular pathology than to gastrointestinal pathology and IHC testing. The latter areas were selected as controls because all residents are expected to have significant training in these subdisciplines. Of interest, knowledge questions supported this subjective assessment of competency in genomic and molecular pathology. These knowledge questions focused on molecular methods of Sanger sequencing, PCR, and genomics-based next-generation sequencing (NGS). The authors concluded that the molecular pathology rotation may not be of adequate length to expose trainees to NGS, PCR, and Sanger sequencing methods. A rotation period longer than the typical two to four weeks may increase knowledge. Based on findings from the RISE exam, there is more work to be done in training pathology residents in genomic medicine and all aspects of molecular pathology.

Haspel RL, Genzen JR, Wagner J, et al. Integration of genomic medicine in pathology resident training: A work in progress. Am J Clin Pathol. 2020;54:784–791.

Correspondence: Dr. Richard L. Haspel at rhaspel@bidmc.harvard.edu

Cost-effectiveness of innovative colorectal cancer screening tests

Colorectal cancer, a leading cause of cancer death in the United States, can be prevented by early screening and removing premalignant polyps. The U.S. Preventive Services Task Force recommends screening adults between 50 and 75 years of age, and the American Cancer Society recommends screening between 45 and 75 years of age. Yet many adults report that they have not received guideline-consistent screening. Barriers to such testing include fear and discomfort with colonoscopy or fecal immunohistochemical tests (FIT). However, the newer screening tests offer a simple blood test to detect early cancer. The authors conducted a study to determine which of the available colorectal cancer (CRC) screening tests is most promising from a cost-effectiveness perspective. They used a previously validated microsimulation screening-analysis colon model to evaluate the cost-effectiveness of screening with capsule endoscopy every five or 10 years, computed tomographic colonography every five years, multi-target stool DNA test every one or three years, and methylated SEPT9 DNA plasma assay (mSEPT9) every one or two years. The authors compared these strategies with FIT screening and colonoscopy screening every 10 years. They projected quality-adjusted life-years gained (QALYG), number of colonoscopies, and incremental cost-effectiveness ratios. The authors based model assumptions on a willingness-to-pay threshold of $100,000 per QALYG. The study results showed that among the alternative tests to FIT and colonoscopy, computed tomographic colonography every five years, annual mSEPT9, and annual multi-target stool DNA screening had incremental cost-effectiveness ratios of $1,092, $63,252, and $214,974 per QALYG, respectively. In addition, annual mSEPT9 screening resulted in more QALYG, CRC cases averted, and CRC deaths averted than annual FIT screening but led to a high rate of colonoscopy referral—51 percent after three years and 69 percent after five years. Furthermore, the alternative tests were not as cost-effective as FIT and colonoscopy. The authors concluded that for people not willing to participate in FIT or colonoscopy screening, mSEPT9 is the test of choice if a high colonoscopy referral rate is acceptable. They noted that because total costs are 26 percent higher with mSEPT9 than with annual FIT screening, FIT and colonoscopy should be the first tests offered to adults willing to participate in CRC screening.