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High-risk women with endometrial cancer often do not receive genetic counseling referral
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CHICAGO — Genetic counseling referrals and testing appeared underutilized among high-risk women diagnosed with endometrial cancer, according to study results presented at the ASCO Annual Meeting.
“Genetic testing offers a unique opportunity to prevent cancer,” Stephanie V. Blank, MD, gynecologic oncologist at Icahn School of Medicine at Mount Sinai, told HemOnc Today. “Genetic testing is likely underutilized for patients with endometrial cancer. By identifying mutations in women with endometrial cancer, we can heighten screening for other cancers and test family members.”
Because Lynch syndrome accounts for the majority of inherited endometrial cancers, its identification could help to treat and prevent multiple malignancies in patients and their relatives.
“This is now even more relevant with the potential of novel immunotherapy agents for women with germline mutations,” Blank and colleagues wrote. “The diagnosis of endometrial cancer can provide the indication for women with specific risk factors to undergo genetic testing.”
The researchers evaluated receipt of genetic counseling referrals and subsequent genetic testing rates in 447 women with endometrial cancer based on risk factors including age, BMI, positive family history —defined as two or more family members with Lynch syndrome–related cancers — and tumor mismatch repair protein expression loss.
In total, 107 women received genetic counseling referrals by their gynecologic oncologist based on their discretion.
Women given genetic counseling referrals appeared significantly younger (median age, 54 vs. 65 years; P < .0001) and had lower BMI (median, 28.2 vs. 30.8; P = .007) than women who did not receive genetic counseling referrals.
Of the 107 women offered genetic counseling referrals, 71 underwent genetic testing. Eight of these women harbored a germline mutation in one of the mismatch repair genes.
“Many young, thin women with endometrial cancer with a family history or a tumor mismatch repair deficiency are not given genetic counseling referrals,” Blank and colleagues wrote. “Among genetic counseling referral women, 66% underwent genetic testing, despite there being a high rate of germline mutations among these women.”
Among the high-risk cohorts, only 56% of those aged younger than 50 years, 28% of those with a family history, and 61% of those with loss of tumor mismatch repair proteins received genetic counseling referrals.
“It is imperative that high-risk women receive genetic counseling referrals with subsequent genetic testing to capture the maximum number with Lynch syndrome to screen and prevent additional cancers as well as enable cascade testing in family members,” Blank and colleagues wrote. “Facilitated pathways may be helpful in increasing genetic counseling referrals, as well as genetic testing in women with endometrial cancer.” – by Kristie L. Kahl
Reference:
Lee J, et al. Abstract 1503. Presented at: ASCO Annual Meeting; June 2-6, 2017; Chicago.
Disclosure: Blank reports stock and other ownership interests in Johnson & Johnson, and travel, accommodations and expenses from Roche. Please see the abstract for a list of all other researchers’ relevant financial disclosures.
Perspective
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Jubilee Brown, MD
Now is the time to change our practice for the benefit of patients with Lynch syndrome. Based on the results of this study by Blank and colleagues, which add to the findings of others, we have the rare opportunity to make a real impact through cancer prevention and personalized treatment.Molecular screening of all endometrial cancer specimens for deficiencies in mismatch repair allows the identification of women who may have germline mutations responsible for Lynch syndrome. Every one of these women should be screened and, when not explained by hypermethylation, should be referred for genetic counseling and germline testing. The identification of Lynch syndrome in these patients and their relatives allows intervention, screening and prevention of endometrial, ovarian and colon cancers, among others. In addition, microsatellite instability high tumors may be targeted by several new agents, some available commercially and some in clinical trials.
The data are compelling, the field is rapidly changing and, for the well-being of our patients and their relatives, the time to act is now.
Perspective
Back to TopVeda N. Giri, MD
There are several strengths of this study and the analysis, including that the study included a fairly sizeable cohort. There is a strong rationale for the application of risk factors researchers used for referral in this setting, and they had completeness of age and family history. Further, there is expected to be impact for patients and families, particularly for cancer risk prevention and targeted therapies. Notably also, about 40% of the cohort included minority populations, which also is important to evaluate.
However, right now this is a retrospective study of small subgroups when evaluating risk factors. The single-institution system may not reflect widely referral patterns, but it is a step in that direction. As Lee noted [during the presentation] universal immunohistochemical testing began in 2015, so there was less molecular data to compare to other risk factor data. Researchers also did not discussed other factors that also influence referrals that include insurance coverage, psychosocial support, etc.
The abstract highlights some additional research needs, such as addressing referrals in minority populations, developing strategies for provider education and prospective study of referral strategies. At this point, there is not an immediate change in practice, but it does provide evidence to support prospective studies of optimized genetic referrals within endometrial cancer.
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