Abstract
Several biobanks have begun returning genetic results to individuals, making the development of public genetic literacy an urgent task for their effective use. No research exists regarding the effects of genetic education on biobank participants, so we conducted genetics workshops with specialists, and surveyed differences in the participants’ (n = 112) preferences to receive their own genetic information by disease categories and their genetic knowledge using questionnaires before and after the workshops. Almost 90% of our participants were over 60 years old, which was similar to our previous preference research. The preference to receive five of the six categories of genetic information (lifestyle diseases, pharmacogenetics, adult-onset non-clinically actionable diseases, non-clinically actionable multifactorial diseases, and all genetic information) was slightly but significantly decreased after the genetics workshop. More participants preferred to receive genetic results regarding lifestyle diseases, pharmacogenetics, and adult-onset clinically actionable diseases after the workshop, while less participants preferred to receive information regarding adult-onset non-clinically actionable diseases, non-clinically actionable multifactorial diseases, and all genetic information. Total genetic knowledge scores significantly increased after the workshop (before: 11.89, after: 13.30, p < 0.001). Our findings suggest that genetics workshops are useful to improve the genetic literacy of genome cohort participants.
Highlights
Electronic supplementary material The online version of this article contains supplementary material, which is available to authorized users.Division of Innovation and Education, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Iwate, JapanDepartment of Clinical Genetics, School of Medicine, Iwate Medical University, Iwate, JapanDivision of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Iwate, JapanCenter for Liberal Arts and Sciences, Iwate Medical University, Iwate, JapanDepartment of Education and Training, Tohoku Medical Megabank Organization, Tohoku University, Sendai, JapanThe technological development of next-generation sequencing and bioinformatics has resulted in whole-genome/ exome sequencing being conducted in clinical settings [1]
Haukkala et al reported on the returning of genetic results regarding heritable long QT syndrome in a Finnish population-based cohort study in which 65% (n = 17) of subjects positive for long QT syndrome, as detected by genotyping, participated in a followup study
We have previously studied the population-based biobank participants’ preferences to receive genetic test results, revealing that nearly 90% of participants enrolled in the Tohoku Medical Megabank Project cohort study expressed a preference to receive their results [6]
Summary
Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Iwate, Japan. A few population-based biobank studies on single-gene diseases have provided subjects with their genetic results. Haukkala et al reported on the returning of genetic results regarding heritable long QT syndrome in a Finnish population-based cohort study in which 65% (n = 17) of subjects positive for long QT syndrome, as detected by genotyping, participated in a followup study. The Tohoku Medical Megabank Project, a populationbased biobank in Japan [5], has begun returning individual genetic information regarding familial hypercholesterolemia. We have previously studied the population-based biobank participants’ preferences to receive genetic test results, revealing that nearly 90% of participants enrolled in the Tohoku Medical Megabank Project cohort study expressed a preference to receive their results [6]. Participant preferences based on disease categories have not been systematically studied
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
