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June 2019

Genetics lands in primary care inboxes

June 2019—It took David Ledbetter, PhD, a mere six years or so to become a hero. Dr. Ledbetter, executive vice president and chief scientific officer, Geisinger, had helped oversee the expansion of the health system’s MyCode precision medicine project, which began as a traditional research biobank in 2007.

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ME multiplex panel: debating the tradeoffs

June 2019—Meningitis and encephalitis have been called by some the most terrifying diseases in medicine, in part because of the difficulty of diagnosing their underlying pathology. The clinical stakes of laboratory testing are high for diagnosing and treating the inflammation that meningitis/encephalitis (ME) causes within the central nervous system.

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Bladder cancer detection and surveillance: How urine cell-free DNA stacks up against cytology

June 2019—A high-throughput sequencing panel was found to be more than 90 percent sensitive in detecting urinary tumor DNA in early-stage bladder cancer and in post-treatment surveillance. The approach, reported in April in Cancer Discovery, overcomes some of the challenges urinary cell-free DNA analysis poses, said one of its developers, and is far more sensitive than cytology and cystoscopy.

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Put It on the Board

Minimum set of alleles recommended for clinical CYP2C9 genotyping
June 2019—A joint report from the CAP and the Association for Molecular Pathology was published last month to aid in the design and validation of clinical CYP2C9 assays, promote standardization of testing across different laboratories, and improve patient care. The report, “Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists,” was released online ahead of publication in the Journal of Molecular Diagnostics. The AMP Pharmacogenetics Working Group is developing a series of guidelines to help standardize clinical testing for frequently used genotyping assays. Developed with organizational representation from the CAP and the Clinical Pharmacogenetics Implementation Consortium, the latest report follows a set of recommendations for clinical CYP2C19 genotyping allele selection published in May 2018.

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Newsbytes

June 2019—How Orchard Software is helping labs address transgender care: Establishing useful reference ranges for cisgender patients can be difficult, and for transgender patients it can be even more challenging. Add to this the desire to show the reference ranges for transgender patients as separate categories, distinct from the values for male and female patients, and the challenges mount for some medical centers. Read more.

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From the President’s Desk: Best-kept secret in medicine

June 2019—I wasn’t one of those kids who always knew they wanted to be a doctor. Science was a powerful draw, which might have suggested medical school if my sister hadn’t gotten there first. But she did, so I majored in chemistry at Vanderbilt. As an undergraduate with little money, I hoped to fast-track, so I found a summer job anesthetizing laboratory rats in the middle of the night and removing their kidneys. The work supported a group studying the renin-angiotensin system. They thought I had a knack for surgery, which prompted a reassessment of my chemistry major and eventually led to an application to medical school. Life makes choices for us sometimes, and I was lucky that way.

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Clinical pathology selected abstracts

June 2019—Dietary patterns during adulthood and cognitive performance in midlife. Cognitive impairment is associated with an increased risk of mortality, disability, and late-life dementia, which contributes to the rising costs of health care. Several studies have demonstrated cognitive decline in midlife, and some data have linked this decline to cardiovascular disease risk factors or a more sedentary lifestyle. Diet is a modifiable exposure, but few studies have analyzed the risk of cognitive impairment due to dietary factors.

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Anatomic pathology selected abstracts

June 2019—Markers for differentiating triple-negative breast cancer from TTF1-negative
lung adenocarcinoma. Triple-negative breast cancer patients have an increased risk of developing visceral metastases and other primary nonbreast cancers, particularly lung cancer. The differential diagnosis of triple-negative breast cancer (TNBC) metastases and primary cancers from other organs can be difficult due to lack of a TNBC standard immunoprofile.

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Molecular pathology selected abstracts

June 2019—Link between immunogenic neoantigens derived from gene fusions and T-cell responses. Immunotherapy is quickly emerging as an important therapeutic strategy for hematologic and solid tumors. In 
principle, immune cells recognize unique non-self antigens expressed by cancer cells and this serves as the initial step in eliminating such cells. Among the metrics used to assess the likelihood of response to immunotherapy is the presence of a high level of somatic mutations, referred to as tumor mutation burden (TMB). This serves as a surrogate for extrapolating the level of neoantigens ex-
pressed by cancer cells.

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