Projects

Print
  • Innovative approaches to return of results  

    Project Summary

    Exome sequencing and whole genome sequencing (ES/WGS) are rapidly emerging as important tools in human genetics research. Unlike conventional approaches, ES/WGS can putatively identify all functional variation in the entire coding sequence of a research participant. As a result, both the number and scope of findings with clinical utility are substantially greater than anticipated by existing guidelines and traditional approaches to return of results. Our objective is to investigate: (1) the best ways to communicate with research participants about what kinds of ES/WGS results could be returned to them; (2) the most effective way to return different kinds of ES/WGS results to participants across a range of study populations; and (3) the impact on study participants of receiving results from ES/WGS studies. We will take advantage of an existing collaboration between genome scientists and ethicists who together are using ES/WGS to discover variants/genes underlying Mendelian and complex diseases in both pediatric and adult populations. Together with experts in clinical genetics, genomics, genetic counseling, and biomedical informatics, we will compare the use of traditional approaches for the return of results to the use of an innovative web-based tool called My46 that enables longitudinal personalized management of ES results and dynamic engagement of research participants. The study has four specific aims: (1) assess and describe participant preferences about return and management of ES results across a broad range of study populations; (2) assess annotated variants in ten candidate genes from participant ES data (annotated exome data are already available on all participants to be studied herein) to identify mutations of potential clinical utility and make recommendations about which results to offer for return; (3) compare the effectiveness of an innovative web-based tool for results management to return of results from a single face-to-face session with a genetic counselor; and (4) assess the psychological, social and health-related impact of the return of ES results using validated survey tools and interviews, and by a comparison of outcomes and satisfaction. We will use our results to develop a comprehensive framework and a set of guidelines and policies for return of results from ES/WGS studies.


    Investigators

    Holly K. Tabor, Ph.D.
    Michael J. Bamshad, M.D.

    Contact information

    Aditi Shankar, BA
    E-mail: ashankar@uw.edu
    Phone: 206-685-5498

  • Tailoring My46 for African Americans  

    Project Summary

    African American perspectives on the risks and benefits of exome sequencing and whole genome sequencing (ES/WGS) are largely unknown. Furthermore, factors that influence decision-making in African Americans about receiving ES/WGS results are poorly understood. As a supplement to the parent project, Innovative Approaches to Return of Results, our objective in this study is to determine if the best ways to communicate and return ES/WGS results differ between African Americans and European Americans and if so, to develop approaches for ES/WGS return tailored for African Americans. This study has two specific aims: (1) characterize the effect(s) of family contexts, community contexts, and racial/ethnic identity on attitudes toward receiving ES/WGS in general, as well as specific categories of ES/WGS, and conduct usability testing interviews with African Americans about return of results from ES/WGS using My46; and (2) develop a version of My46 tailored for African American participants (My46AA) based on review of empirically derived data and existing My46 content with an Expert Advisory Board of local health professionals, patients, health communication specialists, and health advocates with experiences with African American communities and individuals. We will use our results to provide a preliminary framework for developing culturally appropriate strategies for returning ES/WGS to African Americans, and in the design of African American tailored modules of My46.


    Investigators

    Joon-Ho Yu, M.P.H., Ph.D.
    Holly K. Tabor, Ph.D.
    Michael J. Bamshad, M.D.

    Contact information

    Aditi Shankar, BA
    E-mail: ashankar@uw.edu
    Phone: 206-685-5498

My46 is an innovative web-based tool that enables individuals to manage their own genetic testing results.

Your genome is your entire genetic code or all of the DNA in a cell.

What My46 Means

Most human cells have 46 chromosomes that provide the genetic instructions for a body to live, grow, and develop.

Your Session Is About to Expire

To keep your account secure, your My46 session expires after one hour of inactivity. If you are still using the site, click below to extend your session.