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Physicians’ misunderstanding of genetic test results may hamper mastectomy decisions

A current survey of over 2,000 women newly recognized with breast most cancers discovered that half of those that bear bilateral mastectomy after genetic testing do not even have mutations recognized to confer elevated danger of further cancers, in line with a research by researchers on the Stanford University School of Medicine and 4 different U.S. medical facilities.

Instead the women had what are generally known as variants of unsure significance, or VUS, which are typically ultimately discovered to be innocent. A bilateral mastectomy is a surgical process during which each of a lady’s breasts are eliminated after a analysis of most cancers in a single breast.

The discovering highlights the necessity for genetic counselors to assist each sufferers and physicians higher perceive the results of genetic testing meant to find out a lady’s danger for most cancers recurrence or for creating a separate most cancers in her ovaries or unaffected breast.

“Our findings suggest a limited understanding among physicians and patients of the meaning of genetic testing results,” stated Allison Kurian, MD, affiliate professor of drugs and of health analysis and coverage at Stanford. “Clinical practice guidelines state that variants of uncertain significance should not be considered to confer high cancer risk, and that patients with these variants should be counseled similarly to a patient whose genetic test is normal. However, many of the physicians surveyed in our study stated that they manage these patients in the same way as they do patients with mutations known to increase a woman’s risk.”

Only about half of the surveyed women who acquired genetic testing ever mentioned their test results with a genetic counselor, and between one-quarter and one-half of the surveyed breast most cancers surgeons indicated they deal with women with VUS no in another way than women with recognized cancer-associated mutations, the researchers discovered. Furthermore, some women bear surgical procedure previous to receiving genetic testing or seeing the results.

Kurian is the lead writer of the research, which can be revealed on-line within the Journal of Clinical Oncology. University of Michigan researchers Reshma Jagsi, MD, DPhil, and Steven Katz, MD, MPH, share senior authorship.

The want for genetic testing

The findings come on the heels of a February research by many of the identical researchers displaying that physicians typically fail to advocate genetic testing for breast most cancers sufferers at excessive danger for mutations within the BRCA1 or BRCA2 genes, that are strongly related to ovarian and different cancers.

In this research, the researchers requested 2,502 women newly recognized with breast most cancers whether or not they had acquired genetic testing, and in that case, whether or not the testing and any dialogue of results occurred earlier than or after breast surgical procedure.

They discovered that of the 666 women who had acquired testing, 59 % have been thought-about to have a excessive danger of a harmful mutation in a cancer-associated gene. About one-quarter of these women had genetic testing solely after surgical procedure – which means crucial decisions have been made about their care earlier than details about their mutation standing was obtainable. Delays in testing have been notably pronounced in women who lacked personal health insurance coverage.

The researchers then polled the surgeons who handled the women within the survey. They discovered that, compared with docs who had handled 51 or extra newly recognized breast most cancers sufferers in the course of the earlier yr, docs who had handled fewer than 21 breast most cancers sufferers have been: much less assured in discussing the results of genetic testing with sufferers, extra more likely to order the genetic test with out referring women to a genetic counselor, much less more likely to delay surgical procedure as a way to have test results obtainable for surgical decision-making and extra more likely to handle a affected person with variants of unsure significance in the identical approach they might handle sufferers with confirmed high-risk mutations in cancer-associated genes.

“Our findings suggest that we are not maximizing the benefit of genetic testing for our patients with breast cancer because of barriers related to timeliness of testing and lack of expertise necessary to incorporate results into treatment decisions,” stated Katz, who’s a professor of drugs and of health administration and coverage on the University of Michigan.

Expertise to interpret the results

Although genetic testing has develop into extra widespread and less expensive, it is also turn out to be extra complicated. The creation of multiplex gene panels that concurrently test for mutations or variations in many various genes can render results which are troublesome to interpret with out the assistance of a educated genetic counselor. Uncertainties as to the which means of test results may lead less-experienced surgeons to advocate aggressive remedy within the type of bilateral mastectomies, or trigger women to go for what they may really feel is the most secure choice to handle their most cancers.

Conversely, high-risk women who do carry harmful mutations want this info to make knowledgeable decisions about their health care decisions.

“The gaps identified in this study are striking,” stated Jagsi, professor and deputy chair of radiation oncology on the University of Michigan. “It is critical to ensure that patients at high risk for known cancer-associated mutations are fully informed of the potential benefits of genetic testing, and counseled accurately about the meaning of test results.”

“We’re learning that clinicians’ knowledge of breast cancer genetics can be highly variable,” stated Kurian, who’s a member of the Stanford Cancer Institute. “It’s important for women at high risk of carrying a dangerous mutation to see someone with expertise in cancer genetics when planning their care. Unfortunately, in many cases genetic counselors may not be optimally integrated into the care of newly diagnosed cancer patients, making it difficult to rapidly triage these patients. Our study highlights the urgent need for improved patient access to cancer genetics experts, particularly genetic counselors, and for educating physicians about the appropriate use of genetic testing and interpretation of test results.”

The research was supported by the National Institutes of Health (grant P01CA163233), the California Department of Public Health and the Centers for Disease Control and Prevention.

Kurian has acquired analysis funding from Invitae, Myriad Genetics, Ambry Genetics, GenDx and Genomic Health.

Article: Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer, Allison W. Kurian, Yun Li, Ann S. Hamilton, Kevin C. Ward, Sarah T. Hawley, Monica Morrow, M. Chandler McLeod, Reshma Jagsi, and Steven J. Katz, Journal of Clinical Oncology, doi: 10.1200/JCO.2016.71.6480, revealed on-line 12 April 2017.

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