Not only did researchers discover loss-of-function mutations in novel genes, which could explain the family histories of cancer, they have used these data to advocate for an FDA mandate in which sharing of clinical sequence data by testing laboratories becomes a standard of clinical care. I hadn’t given much thought to those pre-partum days until I picked up Bonnie Rochman’s The Gene Machine that explores the biology and bioethics of genetic testing. Using WGS, researchers were able to identify potentially pathogenic mutations in 21 percent of the latter patient population. If someone finds an SNP in BRCA1/2 or Lynch syndrome, you might need to see a doctor.

© 2020 MJH Life Sciences™ and OncLive. John M. Carethers, MD, MACP, discusses recent developments in multi-gene panel testing. In an interview with OncLive® during the 2020 Institutional Perspectives in Cancer (IPC) webinar on Precision Medicine, Carethers, a professor of Internal Medicine and Human Genetics at the University of Michigan, discussed recent developments in multi-gene panel testing. What other barriers to germline testing need to be addressed?

In any event, during my next pregnancy (with twins), the technology was bumped up. The more challenging pieces [are related to] direct-to-consumer (DTC) testing.

He added, “There are some unusual situations in which additional technologies have to be used to figure out some of the ones that typical ChIP technologies don't fully explain. She was actually put on those drugs and the tumor shrunk dramatically to the point that she could eat again, she gained weight, and she lived another 5 years. That’s the real goal of somatic testing. “Sequencing technologies totally revolutionized this [process]. What one person finds helpful another person might find anxiety -inducing. She had some mutations that weren’t typically found in esophageal cancer, and we did have drugs [to treat her]. In reality, very few of the DTC [tests] are doing sequencing or panel testing like we do clinically. For instance, I had a patient with unresectable esophageal cancer. It depends on the specialty and the type of disease presentation they show up with. Even as the cancer genetics community moves to next-generation sequencing of multiple genes in the genetics clinics, UT Southwestern was one of the first groups to publish its experience with multi-gene panel testing and the implications of clinical care (Mauer et al., 2013 Genetics in Medicine; Yorczyk et al., 2014 Clinical Genetics). The future of DNA mapping is still being realized, and with new discoveries constantly coming to light, the genetics industry becomes even more difficult to navigate. The future of genetic testing. One commercial lab got [results] back to me 2 months ago from a patient we had tested 4 years ago. Until recently, cancer genetic testing was based on inspection of a few genes, but laboratories are now able to look at a patient’s entire genome, which includes approximately 20,000 genes and the intervening sequences.

So much of this information is illuminating and empowering, enabling parents to make more informed decisions about pregnancy and their children’s health. There are going to be some challenges with the DTC [testing] because we don't always know the type of test they’re getting and the information is not going to be as precise and could present challenges in the clinics. Someone may walk in with colon cancer, the next person in the family might walk in with endometrial cancer, and the next person in the family may walk in with a skin tumor, but they all line up with the same mutation in Lynch syndrome. [Based on your family history or phenotype,] we may have to send a ChIP test to verify [the results]. Although it’s currently being used to try to address disease, many researchers expect that its power will eventually be used for less noble purposes — for enhancement, not curative purposes. I don’t remember doing any kind of blood test for genetic testing.

However, advances in genome sequencing and accumulating evidence that children and families cope adequately with predictive genetic information ha … As a result of this screening program’s success in identifying high-risk individuals and completion of cancer prevention activities, the Cancer Genetics team was able to work with Dr. Xian-Jin Xie from the Department of Clinical Sciences to create a computer model for quantifying cancer prevention. The more genes that we find tend to occur in less and less people, based on our current knowledge, but some of these patients present with these rare phenomena.

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