Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study)

Abstract

BackgroundConcerns over the need to improve translational aspects of genetics research studies and engaging community members in the research process have been noted in the literature and raised by patient advocates. In addition to the work done by patient advocacy groups, organizations such as the Patient-Centered Outcomes Research Institute advocate for a change in the culture of research from being researcher-driven to becoming more patient-driven.ObjectiveOur project, Autism Genetics and Outcomes (AutGO), consists of two phases. The goal for phase I was to initiate a general discussion around the main topic (i.e., linking genetics and outcomes research). We used the Patient-Centered Outcomes Research Institute engagement approach to: (aim 1) develop a partnership with a wide range of stakeholders to assess their perspective on developing projects that use both genetics and outcomes research data/principles; (aim 2) identify barriers, facilitators, and needs to promote engagement in patient-centered genetics research; and (aim 3) distill and describe actions that may facilitate utilization of patient/parent perspectives in designing genetics research studies.MethodsIn phase I, we formed a community advisory board composed of 33 participants, including outcomes and genetics researchers, clinicians, healthcare providers, patients/family members, and community/industry representatives, and convened six sessions over the 12-month period. We structured the sessions as a combination of online PowerPoint presentations, surveys, and in-person group discussions. During the sessions, we discussed topics pertaining to linking genetics and outcomes research and reviewed relevant materials, including patient stories, research projects, and existing resources.ResultsTwo sets of surveys, project evaluations (k = 2) and session evaluations (k = 6), were distributed among participants. Feedback was analyzed using content analysis strategies to identify the themes and subthemes. Herein, we describe: the established partnership (aim 1), the identified barriers, facilitators, and needs (aim 2), as well as the lessons learned and suggested recommendations for the research community (aim 3). Following phase I participants’ recommendation, in phase II, we will focus on a specific disease (i.e., autism); this projected plan is briefly outlined to highlight the overarching goal of the project and its potential significance. We also discuss the study limitations, challenges for conducting this type of multidisciplinary work, as well as potential ways to address them.ConclusionsThe AutGO project has created a unique collaborative forum to facilitate the much needed dialogue between genetics and outcomes researchers, which may contribute to finding ways to improve the translational aspects of genetics research studies.Electronic supplementary materialThe online version of this article (10.1007/s40271-018-0302-z) contains supplementary material, which is available to authorized users.

The AutGO Initiative: A Conceptual Framework for Developing Genetics‐Outcomes Research Hypotheses

“…The overall goal of Phase‐II was to develop a workflow for incorporating feedback from different stakeholders toward developing GO hypotheses. As previously described, GO projects utilize data and principles of both genetics and outcomes research [Talebizadeh, Shah et al, 2018]. As a result, such projects primarily focus on improving patient health outcomes, not identifying disease causality.…”

“…Potential challenges to this as well as other multidisciplinary activities include the real or perceived imbalance of power between study participants and participants' time constraints, as previously described [Talebizadeh et al, 2018]. To maintain a meaningful and sustainable engagement of members in a multidisciplinary participatory project, it is important to minimize the unnecessary workload on participants.…”

“…To determine how public engagement in genetics research design may be conducted, we had launched a unique initiative called Autism Genetics Outcomes (AutGO) [Talebizadeh, Shah et al, 2018]. The initiative is continuously evolving, with Phase‐I and Phase‐II completed recently.…”

“…The initiative is continuously evolving, with Phase‐I and Phase‐II completed recently. Previously we described Phase‐I activities [Talebizadeh, Shah et al, 2018], including the development of a conceptual connection between genetics research and patient‐centered outcomes research (for simplicity, hereafter we refer to “patient‐centered outcomes research” as “outcomes research”). To do so, we introduced a new integrated concept called GO (i.e., studies that utilize data and principles of both Genetics and Outcomes research) and identified barriers, facilitators, and needs for promoting this type of hybrid research approach.…”

“…To do so, we introduced a new integrated concept called GO (i.e., studies that utilize data and principles of both Genetics and Outcomes research) and identified barriers, facilitators, and needs for promoting this type of hybrid research approach. Furthermore, we reported lessons learned and suggested recommendations for the research community, including building GO multidisciplinary teams, raising awareness in the research community about the importance of conducting GO studies, developing effective educational protocols that include disease‐specific examples, and assessing existing resources [Talebizadeh, Shah et al, 2018]. These findings were taken into consideration when designing the present study.…”