Test-takers' perspectives on consumer genetic testing for hereditary cancer risk.

Purpose: With few exceptions, research on consumer genetic testing for hereditary cancer risk has focused on tests with limited predictive value and clinical utility. Our study advances the existing literature by exploring the experiences and behaviors of individuals who have taken modern consumer genetic tests for cancer susceptibility that, unlike earlier tests, screen for medically significant variants. Methods: We interviewed 30 individuals who had undergone consumer genetic testing for hereditary cancer risk between 2014 and 2019. We explored participants' pre-test sentiments (7 items), experiences receiving results (5 items), behavioral and health-related changes (6 items), and attitudes and beliefs (3 items). Data were analyzed for thematic content. Results: Most participants reported a personal (n = 6) and/or family history (n = 24) of cancer, which influenced their choice to pursue testing. Before testing, most participants did not consult with a physician (n = 25) or receive genetic counseling (n = 23). Nevertheless, the majority felt that they understood test-related information (n = 20) and their results (n = 20), though a considerable number reported experiencing negative emotions related to their results. Most also shared their results with family members (n = 27). Overall, participants' attitudes towards consumer genetic testing for cancer risk were predominantly positive (n = 23). Conclusion: This study offers new insights into how individuals use and perceive modern consumer genetic tests for hereditary cancer risk, focusing on their perceptions of the risks, benefits, and limitations of these services. Understanding test-takers' perspectives can potentially inform improvements aimed at ensuring that tests meet users' needs and deliver clinically valuable genetic risk assessments.

The ENGAGE study: a 3-arm randomized hybrid type 1 effectiveness and implementation study of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic services in childhood cancer survivors.

BACKGROUND: Germline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and screening guidelines for genetic carriers. Access to genetic services is limited in many places, which leaves many genetic carriers unidentified and at risk for late diagnosis of cancers and poor outcomes. This poses a problem for childhood cancer survivors, as this is a population with an increased risk for subsequent malignant neoplasms (SMN) due to cancer therapy or inherited cancer predisposition. The ENGaging and Activating cancer survivors in Genetic services (ENGAGE) study evaluates the effectiveness of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic testing in childhood cancer survivors compared to usual care options for genetic testing. METHODS: The ENGAGE study is a 3-arm randomized hybrid type 1 effectiveness and implementation study within the Childhood Cancer Survivor Study population which tests a clinical intervention while gathering information on its delivery during the effectiveness trial and its potential for future implementation among 360 participants. Participants are randomized into three arms. Those randomized to Arm A receive genetic services via videoconferencing, those in Arm B receive these services by phone, and those randomized to Arm C will receive usual care services. DISCUSSION: With many barriers to accessing genetic services, innovative delivery models are needed to address this gap and increase uptake of genetic services. The ENGAGE study evaluates the effectiveness of an adapted model of remote delivery of genetic services to increase the uptake of recommended genetic testing in childhood cancer survivors. This study assesses the uptake in remote genetic services and identify barriers to uptake to inform future recommendations and a theoretically-informed process evaluation which can inform modifications to enhance dissemination beyond this study population and to realize the benefits of precision medicine. TRIAL REGISTRATION: This protocol was registered at clinicaltrials.gov (NCT04455698) on July 2, 2020.

Telehealth for genetic counseling: A systematic evidence review.

Telehealth options, such as telephone counseling or videoconferencing, for service delivery in genetic counseling are becoming more widely accepted. However, until now, there has not been a systematic review of the literature focused specifically on genetic counseling outcomes for telehealth. We performed a systematic evidence review to compare telehealth genetic counseling (THGC), including videoconferencing and telephone counseling, across specialties to in-person genetic counseling (IPGC) for a range of outcomes specific to patient and provider experiences and access to care. Several biomedical databases were queried up to January 11, 2021, to identify original research evaluating THGC. Through this search, 42 articles met the inclusion criteria including 13 randomized controlled trials and 29 non-randomized observational studies encompassing 13,901 patients. Most included studies focused only on cancer genetic counseling; however, adult, pediatric, and prenatal specialties were also represented. The majority of studies evaluated patient and/or access to care outcomes. Though most studies reported high patient satisfaction with THGC, as well as comparable rates of trust and rapport, confidence in privacy, health behavior changes, and psychosocial outcomes, few represented diverse populations. Data of provider experiences were limited and varied with more disadvantages noted compared with patient experiences, particularly in studies involving telephone genetic counseling. Studies consistently reported a decrease in the patients' costs and time required for travel when patients are seen via THGC compared to IPGC with a similar reduction in costs to the health system. Overall, results from our evidence synthesis suggest THGC is non-inferior or comparable to IPGC across many domains, even considering that many of the studies included in this review were conducted with telehealth systems, notably videoconferencing, that were less robust and reliable than what is available today. There are notable limitations within this body of literature, leading to potential uncertainty in the generalizability of our analysis. We outline several recommendations for future studies.

Randomized study of remote telehealth genetic services versus usual care in oncology practices without genetic counselors.

PURPOSE: To examine the benefit of telehealth over current delivery options in oncology practices without genetic counselors. METHODS: Participants meeting cancer genetic testing guidelines were recruited to this multi-center, randomized trial comparing uptake of genetic services with remote services (telephone or videoconference) to usual care in six predominantly community practices without genetic counselors. The primary outcome was the composite uptake of genetic counseling or testing. Secondary outcomes compare telephone versus videoconference services. RESULTS: 147 participants enrolled and 119 were randomized. Eighty percent of participants in the telehealth arm had genetic services as compared to 16% in the usual care arm (OR 30.52, p < 0.001). Five genetic mutation carriers (6.7%) were identified in the telehealth arm, compared to none in the usual care arm. In secondary analyses, factors associated with uptake were lower anxiety (6.77 vs. 8.07, p = 0.04) and lower depression (3.38 vs. 5.06, p = 0.04) among those who had genetic services. There were no significant differences in change in cognitive or affective outcomes immediately post-counseling and at 6 and 12 months between telephone and videoconference arms. CONCLUSION: Telehealth increases uptake of genetic counseling and testing at oncology practices without genetic counselors and could significantly improve identification of genetic carriers and cancer prevention outcomes.

Family health history reporting is sensitive to small changes in wording.

PURPOSE: Family health history is often collected through single-item queries that ask patients whether their family members are affected by certain conditions. The specific wording of these queries may influence what individuals report. METHODS: Parents of Boston Children's Hospital patients were invited to participate in a Web-based survey about the return of individual genomic research results regarding their children. Participants reported whether 11 types of medical conditions affected them or their family. Randomization determined whether participants were specifically instructed to consider their extended family. RESULTS: Family health history was reported by 2,901 participants. Those asked to consider their extended family were more likely to report a positive family history for 8 of 11 medical conditions. The largest differences were observed for cancer (65.1 vs. 45.7%; P < 0.001), cardiovascular conditions (72.5 vs. 56.0%; P < 0.001), and endocrine/hormonal conditions (50.9 vs. 36.7%; P < 0.001). CONCLUSIONS: Small alterations to the way family health history queries are worded can substantially change patient responses. Clinicians and researchers need to be sensitive about patients' tendencies to omit extended family from health history reporting unless specifically asked to consider them.Genet Med 18 12, 1308-1311.