Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome
“…Figure 3 displays the importance weights for test attributes. Among the 5 attributes evaluated in the study, test cost was the most important attribute to subjects with an importance weight of 41 (95% CI: 33–48), followed by the probability to detect a deleterious mutation (36 [27–43]) and VUS (20 [13–25]). Sample requirements (2 [0.09–5]) and turnaround time (0.2 [− 0.08–5]) were the least important attributes.Fig.…”
Section: Resultsmentioning
confidence: 99%
“…The current shortage of genetic counselors is another barrier to testing; however, the supply of counselors is predicted to meet demand between 2024 and 2030 [23]. Finally, previous studies have identified several patient-level barriers to genetic testing, including lack of understanding [24, 25], perceived psychosocial implications, inconvenience of counseling/testing [26], and concerns for potential discrimination. Addressing these concerns, as well as the potential personal and family benefits of testing, is critical if widespread uptake of genetic testing in EOC is to be achieved.…”
BackgroundAlthough genetic testing is recommended for women with epithelial ovarian cancer (EOC), little is known about patient preferences for various testing options. We measured relative preferences for attributes of testing in women with EOC referred for genetic counseling.MethodsSubjects were recruited to participate in a discrete-choice-experiment survey to elicit preferences for attributes of genetic testing: out-of-pocket cost ($0, $100, $250, or $1000), probability of a deleterious mutation (60, 80%, or 88%), probability of a variant of uncertain significance (VUS) result (5, 20%, or 40%), sample requirements (blood or saliva), and turn-around time (1, 2 or 4 weeks). Subjects viewed educational videos followed by a series of choices between pairs of constructed genetic tests with varying attribute levels. Random-parameters logit was used to estimate preference weights for attribute levels. Relative importance weights and money-equivalent values were calculated.ResultsNinety-four patients were enrolled; 68 (76.4%) presented for genetic counseling. Test cost was the most important attribute to subjects (importance weight = 41 out of 100) followed by probability to detect deleterious mutations (36) and probability of a VUS result (20). Sample requirements and turnaround time did not drive test choices. Subjects were willing to pay an additional $155 and $70 for incremental 5% improvements in the probability to detect deleterious mutations and probability of a VUS result. At genetics consultation, 55/68 (80.9%) subjects chose multigene testing.ConclusionsLow out-of-pocket cost, high probability of detecting deleterious mutations and high probability of a VUS result are preferred by patients with EOC considering genetic testing.Electronic supplementary materialThe online version of this article (10.1186/s40661-019-0066-8) contains supplementary material, which is available to authorized users.
“…Figure 3 displays the importance weights for test attributes. Among the 5 attributes evaluated in the study, test cost was the most important attribute to subjects with an importance weight of 41 (95% CI: 33–48), followed by the probability to detect a deleterious mutation (36 [27–43]) and VUS (20 [13–25]). Sample requirements (2 [0.09–5]) and turnaround time (0.2 [− 0.08–5]) were the least important attributes.Fig.…”
Section: Resultsmentioning
confidence: 99%
“…The current shortage of genetic counselors is another barrier to testing; however, the supply of counselors is predicted to meet demand between 2024 and 2030 [23]. Finally, previous studies have identified several patient-level barriers to genetic testing, including lack of understanding [24, 25], perceived psychosocial implications, inconvenience of counseling/testing [26], and concerns for potential discrimination. Addressing these concerns, as well as the potential personal and family benefits of testing, is critical if widespread uptake of genetic testing in EOC is to be achieved.…”
BackgroundAlthough genetic testing is recommended for women with epithelial ovarian cancer (EOC), little is known about patient preferences for various testing options. We measured relative preferences for attributes of testing in women with EOC referred for genetic counseling.MethodsSubjects were recruited to participate in a discrete-choice-experiment survey to elicit preferences for attributes of genetic testing: out-of-pocket cost ($0, $100, $250, or $1000), probability of a deleterious mutation (60, 80%, or 88%), probability of a variant of uncertain significance (VUS) result (5, 20%, or 40%), sample requirements (blood or saliva), and turn-around time (1, 2 or 4 weeks). Subjects viewed educational videos followed by a series of choices between pairs of constructed genetic tests with varying attribute levels. Random-parameters logit was used to estimate preference weights for attribute levels. Relative importance weights and money-equivalent values were calculated.ResultsNinety-four patients were enrolled; 68 (76.4%) presented for genetic counseling. Test cost was the most important attribute to subjects (importance weight = 41 out of 100) followed by probability to detect deleterious mutations (36) and probability of a VUS result (20). Sample requirements and turnaround time did not drive test choices. Subjects were willing to pay an additional $155 and $70 for incremental 5% improvements in the probability to detect deleterious mutations and probability of a VUS result. At genetics consultation, 55/68 (80.9%) subjects chose multigene testing.ConclusionsLow out-of-pocket cost, high probability of detecting deleterious mutations and high probability of a VUS result are preferred by patients with EOC considering genetic testing.Electronic supplementary materialThe online version of this article (10.1186/s40661-019-0066-8) contains supplementary material, which is available to authorized users.
“…15,16 While reasons for this were not analysed in detail, in most cases, it seems that there was either a low clinical suspicion of LS or the patient declined further investigation. Barriers to referral and uptake of genetic counselling have previously been explored; possible contributions include lack of understanding of genetic syndromes and the benefits of testing, [17][18][19] unfamiliarity with genetics services, and the burden of concurrent cancer treatment or other comorbidities.…”
Background
Current guidelines recommend a step‐wise screening algorithm for all colorectal carcinomas (CRC) to identify patients with Lynch syndrome (LS).
Aim
To describe the frequencies of mismatch repair deficiency (dMMR), BRAFV600E mutations and MLH1 methylation in resected CRC, and evaluate the impact of universal screening on LS detection.
Methods
Retrospectively, 1171 consecutive cases of resected CRC were identified between 2010 and 2017 from a large multi‐centre pathology service. Testing for dMMR by immunohistochemistry (IHC) was initiated by the reporting pathologist from 2010, until universal testing was introduced in 2015. Patients with dMMR were referred to the Family Cancer Clinic (FCC) for consideration of germline mutation analysis.
Results
IHC was performed on 680 tumours, with abnormal expression in 124 (18%). Referral to FCC was made for 44 of the 88 patients with abnormal IHC (excluding those with BRAFV600E mutations). Of the 29 who attended, 16 underwent germline genetic testing, and LS was diagnosed in 7 with a germline mutation. After implementation of universal testing, there was a greater incidence of dMMR (17% vs 10%, P = 0.02), rate of BRAFV600E testing (79% vs 25%, P < 0.0001), and referral to FCC (61% vs 33%, P < 0.0001), but no difference in FCC attendance rate (65% vs 67%, P = 0.59) or new LS diagnoses (1.6% vs 0%, P = 0.06).
Conclusion
Universal IHC testing may increase the detection of LS, and should be implemented where possible. However, the full benefit was limited by low referral to and uptake of genetic testing, and further strategies are needed to overcome these barriers.
“…A recent Western Australian study investigating the barriers to genetic counseling and testing in patients with suspected hereditary breast and ovarian cancers suggests that more appropriate timing of referrals and increased explanation of the benefits of genetic testing may improve the rate of testing uptake 15. Further research may guide the development of strategies to overcome barriers in order to increase the uptake of genetic testing.…”
IntroductionPatients with non-mucinous epithelial tubo-ovarian cancers should be referred for genetic testing because approximately 15% will carry an inherited mutation in the BRCA1 or BRCA2 cancer susceptibility genes. However, referral rates for genetic testing remain low. For patients who carry a BRCA mutation, failure to refer for genetic testing results in missed opportunities for therapy and prevention of future cancers in the patient and at-risk relatives. In Western Australia between July 2013 and June 2015, 40.6% of patients with non-mucinous epithelial tubo-ovarian cancers discussed at a statewide gynecologic oncology tumor board were referred for genetic testing. Our objective was to investigate the proportion of patients with non-mucinous epithelial tubo-ovarian cancers in Western Australia referred for BRCA1/2 testing from July 2015 to December 2017, following the introduction of mainstreaming and tele-counseling. A secondary aim was to compare the uptake of genetic testing between different genetic counseling modalities.MethodsRetrospective case series. All patients with high-grade non-mucinous epithelial tubo-ovarian cancers discussed at the weekly Western Australian gynecologic oncology tumor board meeting, between July 1, 2015 and December 31, 2017, and those referred for BRCA mutation testing, were ascertained.ResultsA total of 343 women were eligible for referral; 63 patients were excluded, leaving 280 patients for analysis. 220/280 patients were referred for genetic testing (78.6%). There were no differences in uptake of genetic testing by mode of genetic counseling.DiscussionA significant increase in referrals of eligible patients for genetic testing was observed in 2015–2017 compared with 2013–2014. Although there were no differences in uptake of genetic testing by mode of counseling, mainstreaming and tele-counseling provide alternative options for patients that may lead to higher uptake of genetic testing.
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