ABSTRACT
BACKGROUND: Recommendations state all people with ovarian cancers (OCs) receive genetic counseling, but testing uptake is only between 15 and 31%. Those with a prior diagnosis of OC who have not received genetic testing represent a missed opportunity for life-saving genetic risk information. The Genetic Risk Analysis in ovarian CancEr (GRACE) study aimed to evaluate the feasibility of the retrospective identification ("Traceback") of individuals diagnosed with OC. METHODS: This nonrandomized intervention study within two integrated health care systems identified participants with a history of OC between 1998 and 2020 who did not have genetic testing or testing limited to BRCA1/2. Participants received clinical genomic sequencing via a custom 60 gene panel. This study measured the feasibility of the Traceback methodology in OC survivors. RESULTS: The initial cohort included 929 individuals, of which 57% had no prior genetic testing. Of the 302 eligible for recruitment, 88 consented to participate. We were able to outreach 97% of the eligible population using contact information from medical records. The stage at diagnosis was the only factor associated with consent. Of the 78 who returned their saliva sample, 21% had pathogenic/likely pathogenic variants, and 79% had negative results. CONCLUSION: The GRACE study resulted in a 29% uptake of genetic testing in OC survivors. The time since diagnosis did not have an impact on consent or ability to contact. GRACE can inform the implementation of future Traceback programs, providing guidance on how to prevent and mitigate the burden of OC and other hereditary cancers.
ABSTRACT
PURPOSE: The ClinGen Actionability Working Group (AWG) developed an evidence-based framework to generate actionability reports and scores of gene-condition pairs in the context of secondary findings from genome sequencing. Here we describe the expansion of the framework to include actionability assertions. METHODS: Initial development of the actionability rubric was based on previously scored adult gene-condition pairs and individual expert evaluation. Rubric refinement was iterative and based on evaluation, feedback, and discussion. The final rubric was pragmatically evaluated via integration into actionability assessments for 27 gene-condition pairs. RESULTS: The resulting rubric has a 4-point scale (limited, moderate, strong, and definitive) and uses the highest-scoring outcome-intervention pair of each gene-condition pair to generate a preliminary assertion. During AWG discussions, predefined criteria and factors guide discussion to produce a consensus assertion for a gene-condition pair, which may differ from the preliminary assertion. The AWG has retrospectively generated assertions for all previously scored gene-condition pairs and are prospectively asserting on gene-condition pairs under assessment, having completed over 170 adult and 188 pediatric gene-condition pairs. CONCLUSION: The AWG expanded its framework to provide actionability assertions to enhance the clinical value of their resources and increase their utility as decision aids regarding return of secondary findings.
Subject(s)
Evidence-Based Medicine , Humans , Evidence-Based Medicine/methods , Genetic Testing/methods , Incidental Findings , Whole Genome SequencingABSTRACT
Scalable models for result disclosure are needed to ensure large-scale access to genomics services. Research evaluating alternatives to genetic counseling suggests effectiveness; however, it is unknown whether these findings are generalizable across populations. We assessed whether a letter is non-inferior to telephone genetic counseling to inform participants with no personal or family history of cancer of their normal results. Data were collected via self-report surveys before and after result disclosure (at 1 and 6 months) in a study sample enriched for individuals from underserved populations. Primary outcomes were subjective understanding of results (global and aggregated) and test-related feelings, ascertained via three subscales (uncertainty, negative emotions, and positive feelings) of the Feelings About genomiC Testing Results (FACToR) measure. Secondary outcomes related to satisfaction with communication. Non-inferiority tests compared outcomes among disclosure methods. Communication by letter was inferior in terms of global subjective understanding of results (at 1 month) and non-inferior to telephoned results (at 6 months). Letter was non-inferior to telephone for aggregated understanding (at 6 months). Letter was superior (at 1 month) to telephone on the uncertainty FACToR subscale. Letter was non-inferior to telephone on the positive-feelings FACToR subscale (at 6 months). Letter was non-inferior to telephone for satisfaction with mode of result delivery and genetic test results. Communication via letter was inferior to telephone in communicating the "right amount of information." The use of written communication to relay normal results to low-risk individuals is a promising strategy that may improve the efficiency of care delivery.
Genetic counseling services delivered in the usual wayduring clinic visitscan take up a lot of time for patients and genetic counselors. Alternatives to this practice have been studied among genetic counseling patients to spare genetic counselors' time and expand access and flexibility for patients. Yet, in these studies, the participants have lacked diversity. So, it is not known how these research findings pertain to all populations. In this study, we looked at the use of an alternative care model, a mailed letter, for sharing normal genetic test results with study participants from underserved populations. We tested whether patients viewed the mailed letter as no worse than a telephone conversation with a genetic counselor, which has been shown to be well received by patients. We learned that study participants felt they understood their results, were not distressed to receive the results, and were satisfied with how their results were delivered. Lastly, we found that participants were more satisfied with the amount of information provided about their test results during the telephone conversation compared with the mailed letter. This study provides new information about different ways to deliver test results to individuals receiving genetic services.
Subject(s)
Genetic Counseling , Genetic Testing , Neoplasms , Telephone , Humans , Female , Genetic Testing/methods , Male , Middle Aged , Genetic Counseling/methods , Neoplasms/genetics , Adult , Vulnerable Populations , Disclosure , Postal Service , AgedABSTRACT
Openness about identity as lesbian, gay, bisexual, transgender, queer, and other sexual orientations and gender identities (LGBTQ+) may cause strain on relationships between family members, which could lead to limited knowledge of cancer family history and reduced communication with family members. As a result, members of the LGBTQ+ community may have more difficulty accessing genetic counseling services for inherited cancer risk. We applied a mixed-methods approach to explore potential barriers to knowledge of cancer family history and family communication among participants of the Cancer Health Assessments Reaching Many (CHARM) study who self-identified as LGBTQ+. We assessed perceptions of family functioning and communication of genetic test results to family members using survey tools and supplemented these data with 20 in-depth interviews to further assess participant perspectives and experiences. LGBTQ+ participants were more likely to report unhealthy family functioning on the survey tool, and some interviewees endorsed that openness about their LGBTQ+ identity led to strained family relationships and reduced communication about their family history of cancer. Overall, this study identified barriers that may be faced by members of the LGBTQ+ community which could limit their ability to access genetic counseling services for inherited cancer risk.