Dataset Information

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

ABSTRACT: Background. Inherited BRCA gene mutations convey a high risk for breast and ovarian cancer, but current guidelines limit BRCA mutation testing to women with early-onset cancer and relatives of mutation-positive cases. Benefits and risks of providing this information directly to consumers are unknown. Methods. To assess and quantify emotional and behavioral reactions of consumers to their 23andMe Personal Genome Service(®) report of three BRCA mutations that are common in Ashkenazi Jews, we invited all 136 BRCA1 and BRCA2 mutation-positive individuals in the 23andMe customer database who had chosen to view their BRCA reports to participate in this IRB-approved study. We also invited 160 mutation-negative customers who were matched for age, sex and ancestry. Semi-structured phone interviews were completed for 32 mutation carriers, 16 women and 16 men, and 31 non-carriers. Questions addressed personal and family history of cancer, decision and timing of viewing the BRCA report, recollection of the result, emotional responses, perception of personal cancer risk, information sharing, and actions taken or planned. Results. Eleven women and 14 men had received the unexpected result that they are carriers of a BRCA1 185delAG or 5382insC, or BRCA2 6174delT mutation. None of them reported extreme anxiety and four experienced moderate anxiety that was transitory. Remarkably, five women and six men described their response as neutral. Most carrier women sought medical advice and four underwent risk-reducing procedures after confirmatory mutation testing. Male carriers realized that their test results implied genetic risk for female relatives, and several of them felt considerably burdened by this fact. Sharing mutation information with family members led to screening of at least 30 relatives and identification of 13 additional carriers. Non-carriers did not report inappropriate actions, such as foregoing cancer screening. All but one of the 32 mutation-positive participants appreciated learning their BRCA mutation status. Conclusions. Direct access to BRCA mutation tests, considered a model for high-risk actionable genetic tests of proven clinical utility, provided clear benefits to participants. The unexpected information demonstrated a cascade effect as relatives of newly identified carriers also sought testing and more mutation carriers were identified. Given the absence of evidence for serious emotional distress or inappropriate actions in this subset of mutation-positive customers who agreed to be interviewed for this study, broader screening of Ashkenazi Jewish women for these three BRCA mutations should be considered.

SUBMITTER: Francke U

PROVIDER: S-EPMC3628894 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

Francke Uta U Dijamco Cheri C Kiefer Amy K AK Eriksson Nicholas N Moiseff Bianca B Tung Joyce Y JY Mountain Joanna L JL

PeerJ 20130212

Background. Inherited BRCA gene mutations convey a high risk for breast and ovarian cancer, but current guidelines limit BRCA mutation testing to women with early-onset cancer and relatives of mutation-positive cases. Benefits and risks of providing this information directly to consumers are unknown. Methods. To assess and quantify emotional and behavioral reactions of consumers to their 23andMe Personal Genome Service(®) report of three BRCA mutations that are common in Ashkenazi Jews, we invit ...[more]

PMID: 23638402

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Project description:BACKGROUND:Rapid advances in scientific research have led to an increase in public awareness of genetic testing and pharmacogenetics. Direct-to-consumer (DTC) genetic testing companies, such as 23andMe, allow consumers to access their genetic information directly through an online service without the involvement of healthcare professionals. Here, we evaluate the clinical relevance of pharmacogenetic tests reported by 23andMe in their UK tests. METHODS:The research papers listed under each 23andMe report were evaluated, extracting information on effect size, sample size and ethnicity. A wider literature search was performed to provide a fuller assessment of the pharmacogenetic test and variants were matched to FDA recommendations. Additional evidence from CPIC guidelines, PharmGKB, and Dutch Pharmacogenetics Working Group was reviewed to determine current clinical practice. The value of the tests across ethnic groups was determined, including information on linkage disequilibrium between the tested SNP and causal pharmacogenetic variant, where relevant. RESULTS:23andMe offers 12 pharmacogenetic tests to their UK customers, some of which are in standard clinical practice, and others which are less widely applied. The clinical validity and clinical utility varies extensively between tests. The variants tested are likely to have different degrees of sensitivity due to different risk allele frequencies and linkage disequilibrium patterns across populations. The clinical relevance depends on the ethnicity of the individual and variability of pharmacogenetic markers. Further research is required to determine causal variants and provide more complete assessment of drug response and side effects. CONCLUSION:23andMe reports provide some useful pharmacogenetics information, mirroring clinical tests that are in standard use. Other tests are unspecific, providing limited guidance and may not be useful for patients without professional interpretation. Nevertheless, DTC companies like 23andMe act as a powerful intermediate step to integrate pharmacogenetic testing into clinical practice.

Project description:BackgroundThe coronavirus disease 2019 pandemic has contributed to growing demand for mental health services, but patients face significant barriers to accessing care. Direct-to-consumer(DTC) telemedicine has been proposed as one way to increase access, yet little is known about its pre-pandemic use for mental healthcare.ObjectiveTo characterize patients, providers, and their use of a large nationwide DTC telemedicine platform for mental healthcare.DesignRetrospective cross-sectional study.SettingMental health encounters conducted on the American Well DTC telemedicine platform from 2016 to 2018.ParticipantsPatients and physicians.Main measuresPatient measures included demographics, insurance report, and number of visits. Provider characteristics included specialty, region, and number of encounters. Encounter measures included wait time, visit length and timing, out-of-pocket payment, coupon use, prescription outcome, referral receipt, where care otherwise would have been sought, and patient satisfaction. Factors associated with five-star physician ratings and prescription receipt were assessed using logistic regression.Key resultsWe analyzed 19,270 mental health encounters between 6708 patients and 1045 providers. Visits were most frequently for anxiety (39.1%) or depression (32.5%), with high satisfaction (4.9/5) across conditions. Patients had a median 2.0 visits for psychiatry (IQR 1.0-3.0) and therapy (IQR 1.0-5.0), compared to 1.0 visit (IQR 1.0-1.0) for urgent care. High satisfaction was positively correlated with prescription receipt (OR 1.89, 95% CI 1.54-2.32) and after-hours timing (aOR 1.18, 95% CI 1.02-1.36). Prescription rates ranged from 79.6% for depression to 32.2% for substance use disorders. Prescription receipt was associated with increased visit frequency (aOR 1.95, 95% CI 1.57-2.42 for ≥ 3 visits).ConclusionsAs the burden of psychiatric disease grows, DTC telemedicine offers one solution for extending access to mental healthcare. While most encounters were one-off, evidence of some continuity in psychiatry and therapy visits-as well as overall high patient satisfaction-suggests potential for broader DTC telemental health use.

Dataset Information

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

Publications

Dealing with the unexpected: consumer responses to direct-access BRCA mutation testing.

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