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Returning negative results to individuals in a genomic screening program: lessons learned.

ABSTRACT: PURPOSE:In genomics, the return of negative screening results for rare, medically actionable conditions in large unselected populations with low prior risk of disease is novel and may involve important and nuanced concerns for communicating their meaning. Recruitment may result in self-selection because of participants' personal or family history, changing the characteristics of the screened population and interpretation of both positive and negative findings; prior motivations may also affect responses to results. METHODS:Using data from GeneScreen, an exploratory adult screening project that targets 17 genes related to 11 medically actionable conditions, we address four questions: (1) Do participants self-select based on actual or perceived risk for one of the conditions? (2) Do participants understand negative results? (3) What are their psychosocial responses? (4) Are negative results related to changes in reported health-related behaviors? RESULTS:We found disproportionate enrollment of individuals at elevated prior risk for conditions being screened, and a need to improve communication about the nature of screening and meaning of negative screening results. Participants expressed no decision regret and did not report intention to change health-related behaviors. CONCLUSION:This study illuminates critical challenges to overcome if genomic screening is to benefit the general population.

SUBMITTER: Butterfield RM

PROVIDER: S-EPMC6281871 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Returning negative results to individuals in a genomic screening program: lessons learned.

Butterfield Rita M RM Evans James P JP Rini Christine C Kuczynski Kristine J KJ Waltz Margaret M Cadigan R Jean RJ Goddard Katrina A B KAB Muessig Kristin R KR Henderson Gail E GE

Genetics in medicine : official journal of the American College of Medical Genetics 20180606 2

<h4>Purpose</h4>In genomics, the return of negative screening results for rare, medically actionable conditions in large unselected populations with low prior risk of disease is novel and may involve important and nuanced concerns for communicating their meaning. Recruitment may result in self-selection because of participants' personal or family history, changing the characteristics of the screened population and interpretation of both positive and negative findings; prior motivations may also ...[more]

PMID: 29875426

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Project description:IntroductionThe effectiveness of mailed fecal immunochemical test outreach might be enhanced through an organized colorectal cancer screening program, yet published real-world experiences are limited. We synthesized the process of implementing a colorectal cancer screening program that used mailed fecal immunochemical test outreach in a large integrated academic-community practice.MethodsData from a pilot mailed fecal immunochemical test program were shared with healthcare system leadership, which inspired the creation of a cross-institutional organized colorectal cancer screening program. In partnership with a centralized population health team and primary care, we defined (1) the institutional approach to colorectal cancer screening, (2) the target population and method for screening, (3) the team responsible for implementation, (4) the healthcare team responsible for decisions and care, (5) a quality assurance structure, and (6) a method for identifying cancer occurrence.ResultsThe Fred Hutch/UW Medicine Population Health Colorectal Cancer Screening Program began in September 2021. The workflow for mailed fecal immunochemical test outreach included a mailed postcard, a MyChart message from the patient's primary care provider, a fecal immunochemical test kit with a letter signed by the primary care provider and program director, and up to 3 biweekly reminders. Patients without a colonoscopy 3 months after an abnormal fecal immunochemical test result received navigation through the program. In the first program year, we identified 9,719 patients eligible for outreach, and in an intention-to-treat analysis, 32% of patients completed colorectal cancer screening by fecal immunochemical test or colonoscopy.ConclusionsReal-world experiences detailing how to implement organized colorectal cancer screening programs might increase adoption. In our experience, broadly disseminating pilot data, early institutional support, robust data management, and strong cross-departmental relationships were critical to successfully implementing a colorectal cancer screening program that benefits all patients.

Project description:BackgroundScholarly Concentrations programs in U.S. medical schools aim to instill passion for critical thinking and promote careers in academic medicine. The rise of these programs has seen variable goals, structure, and outcomes. Transformation of these programs internationally is in its infancy.MethodsWe describe implementation of the Johns Hopkins School of Medicine Scholarly Concentrations program, offering Basic Science, Clinical Science, Medical Ethics/Healing Arts, History of Medicine, and Public Health/Community Service, at Bezmiâlem Vakif University in Istanbul, Turkey. Over six modules in the preclinical years, students develop a faculty-mentored experience which encourages the acquisition of attitudes and skills for self-directed, lifelong learning and scholarship. This culminates in abstract and project presentation. We report program characteristics (context and logistics) and outcomes (student engagement and experiences).ResultsThe Scholarly Concentrations program at Bezmiâlem began in 2014, with nearly two completed cohorts of students. In comparison to Johns Hopkins, students at Bezmiâlem begin at an earlier age (thus do not have as much prior research experience) and are subsequently evaluated for residency in terms of test scores rather than scholarship and publications, but have a similar level of intellectual curiosity and desire to take ownership of their project. Eighty-two percent of Bezmiâlem students stated the project they pursued was either their own idea or was an idea they formed after meeting with their mentor. Students at Bezmialem were more likely to choose Clinical Science projects (p = 0.009). Only 5% of Bezmiâlem students in end-of-course survey felt dissatisfied with the level of ownership they experienced with their project, a frequency similar to that seen by Johns Hopkins students (2%).ConclusionsScholarly Concentrations programs play an important role in U.S. medical schools, and these programs can be successfully implemented internationally. The Scholarly Concentrations program at Johns Hopkins has been transformed to a program at Bezmiâlem in Istanbul, the first program outside North America or the European Union. When designing these programs, one must consider the context, logistics, student engagement, and outcomes. While long-term outcomes are needed, this can serve as a model for implementation elsewhere.

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Returning negative results to individuals in a genomic screening program: lessons learned.

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Returning negative results to individuals in a genomic screening program: lessons learned.

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