Purpose: This paper describes the acceptability and generalizability of an evidenced-based peerled asthma self-management program. Design and Methods: Adolescents with persistent asthma (n=259, ages 12-17 years) from three urban cities participated in a one day camp led by either trained peer leaders (n= 35, ages 16-20 years; intervention group) or healthcare professionals (control group). Participants completed a camp evaluation form, and the peer leader quality survey. Results: Overall program evaluation showed high acceptability with average score of 4.5 (±.87) out of 5 and no treatment group differences were found. Campers highly rated peer leaders' qualification, particularly trustworthiness (98%), knowledge (97%), and sense of humor (95%). Participants from low income families (annual income < $30,000) reported higher satisfaction with their camp experience being enjoyable compared to their counterparts from higher income families (X 2 =4.23, p ≤ .04). Conclusions: This study supports the acceptability and generalizability of a peer-led asthma self-management program across different urban community locations, seasons and venues.
Germline genetic testing for inherited cancer risk is increasingly being performed with multigene panel testing with MUTYH often included on colorectal cancer-and polyposis-focused panels, as well as on broader pan-cancer panels. With up to 1%-2% of the general population being monoallelic MUTYH carriers, pathogenic/likely pathogenic (P/LP) variants in MUTYH are one of the most common findings on multigene cancer panels. However, little is known about patient experience and understanding of monoallelic MUTYH P/LP variants, nor whether such findings influence medical management recommendations and familial communication, which this study aims to better understand. Monoallelic P/LP MUTYH carriers were recruited from the Prospective Registry of Multiplex Testing (PROMPT) and completed a cross-sectional self-report survey on sociodemographic characteristics, medical and family history, experiences with MUTYH genetic testing, genetics and MUTYH knowledge, perceived cancer risk, and familial communication. Of 115 eligible PROMPT participants, 49 (43%) completed the survey who were primarily female (94%), white (96%), had a history of cancer (61%), and a median age of 51.4 years. Most participants (61%) reported satisfaction with how their healthcare provider managed their genetic test result and care, and 65% of survey participants reported their provider recommended colonoscopy based on their genetic test results. Participants' responses also reflected variable levels of knowledge regarding cancer risks and screening recommendations for MUTYH carriers. The majority (98%) of participants shared their genetic test results with at least some of their relatives; however, only 13% of eligible relatives reportedly underwent cascade testing. Taken together, this study provides needed insight into the overall experiences of monoallelic MUTYH carriers and highlights numerous areas for improvement in clinician education, communication, and management of these individuals.
e13680 Background: Multiplex genetic testing (MGT) simultaneously analyzes multiple cancer susceptibility genes and can reveal genetic variants of uncertain significance (VUS) that have unclear associations with cancer risks. Little is known about how people are prepared for receiving VUS results from MGT, or whether their emotional reactions differ based on the levels of cancer risk to which they may be susceptible. Methods: We recruited participants from the online Prospective Registry of Multiplex Testing (PROMPT). Those with only a VUS in a cancer predisposition gene completed a survey including measures of their MGT experience, distress (range 0-30; α = .87), uncertainty (0-45; α = .83), and positive experiences (0-20; α = .75). We used generalized linear modeling to examine how demographics, awareness of the possibility of VUS before testing, and level of cancer risks associated with their VUS gene were related to emotional outcomes. Results: Data were available from 661 individuals (40% response rate, 95% female, 90% white, 78% college graduate, 69% cancer history, age 23-93) with VUS in a gene of high risk (47%), moderate/low risk (35%) or limited evidence of risk (18%). Among the sample, 80.8% reported ever receiving cancer genetic counseling, and only 50.8% reported being aware of the possibility of VUS when deciding about testing. Participants reported low current distress ( M± SD= 3.25±5.19), uncertainty (9.18±8.35) and positive experiences (7.83±5.98). Distress was associated with younger age, less family cancer history, and being unaware of the possibility of VUS before testing; distress was also higher among those with VUS in a gene of high risk than those with VUS in a gene of moderate/low risk or limited evidence of risk ( ps≤.023). Uncertainty was associated with younger age, non-white race, less education, and being unaware of the possibility of VUS; uncertainty was also higher among those with VUS in a gene of high risk than those with VUS in a gene with limited evidence of risk ( ps≤.05). Fewer positive experiences were associated with more education and more family cancer history; those with VUS in a gene of high risk had fewer positive experiences than those with VUS in a gene with limited evidence of risk ( ps≤.03). Conclusions: Many individuals undergoing MGT may not fully understand the prospect of receiving VUS. Clinicians should consider patients’ background, preparation, and level of cancer risk to which they are potentially susceptible, as these factors may affect their emotional adaptation.
1576 Background: Approximately 5% of localized PCa and 12% of metastatic PCa are associated with germline mutations in DNA repair genes. The National Comprehensive Cancer Network (NCCN) issued genetic testing guidelines to identify PCa patients (pts) likely to harbor a germline DNA repair mutation. The overall burden of this guideline-based, resource-intensive genetic testing is unknown. Using supervised phenotype-genotype information extraction algorithms, we determined the projected genetic testing burden at a single institution adhering to NCCN PCa genetic testing guidelines. Methods: A PCa cohort of 2127 pts was identified from the Penn Medicine BioBank via ICD 9/10 codes. Phenotypic data were extracted from the Penn Medicine Cancer Registry and electronic health record systems via natural language processing and manual chart review. Pts were classified based on 9 germline genetic testing criteria outlined in the NCCN PCa guidelines (Version 4.2019). Results: 895/2127 pts met at least 1 of the 9 NCCN genetic testing criteria, corresponding to a 42.1% overall genetic testing burden. 35.2% qualified for testing via high-risk localized PCa and 6.4% qualified via metastatic disease. Of the pts with localized PCa (n=2014), 15.1% qualified for genetic testing via high Gleason score, 5.1% via high-risk family history, 3.7% via PSA>20ng/mL, 8.7% via Ashkenazi Jewish descent, and 0.8% via intraductal/ductal histology. Conclusions: In this single-center PCa cohort, germline genetic testing was NCCN-guideline recommended for a larger proportion of pts than would otherwise be expected based on previously published reports. Future studies are needed to validate the sensitivity and specificity of these criteria for identifying germline mutations. Our study also highlights a need for novel methods to improve the efficiency of genetic testing for a large cohort. [Table: see text]
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