The ability to predict outcomes in complex conditions, as a function of patients’ individual characteristics and interactions with potential treatments, is still far from optimal. In addition to environmental factors, genetics may also play a role in predisposing patients to poor outcomes. Currently, despite massive investments in the outcomes research field, genetic susceptibility factors are not widely utilized in making healthcare decisions. This gap carries especially negative consequences for complex neurodevelopmental disorders, such as autism.
One of the main reasons why this gap has been overlooked is the lack of communication between genetics and outcomes researchers. This barrier motivated the project team to use the PCORI engagement protocol to develop a platform that would enable synergistic relationships between the two respective disciplines and facilitate utilization of genetic information in patient-centered studies. The AutGO (i.e., Autism Genetics and Outcomes) project consists of two phases of research. In Phase I, the researchers formed a community advisory board to seek input from a wide range of stakeholders to identify key barriers and needs to guide the development of a roadmap for incorporating genetic information in patient-centered studies. The Phase I participants highly valued the educational aspect of the project and noted the need to develop disease-specific example(s) and raise awareness among the research community about the existing gap.
In Phase II, this the team will develop an engagement/educational model and introduce it to the autism research community by:
- Forming an advisory board and an autism expert panel
- Using a combination of online educational materials, website postings, and in-person meetings
- Developing a research example for autism that utilizes genetic information to address a patient-centered question
- Organizing two workshops. The first-year workshop, held in Kansas City in conjunction with the Annual Pediatric Genomic Medicine Conference (April 2017), will be used to introduce the AutGO project, goals, and methods. Progress made and feedback obtained will be summarized and publicly shared with the autism research community at the International Meeting for Autism Research (May 2018).
In addition to collaborations developed in Phase I, to be more effective in targeting relevant stakeholders, researchers will reach out to the autism research community and the leaders of several patient-centered outcomes research (PCOR) networks (Genetic Alliance, ABOUT Network, IAN’s patient-powered research network, PCORnet) to solicit their input, and to assess how this project can make use of existing PCOR data and infrastructures.
The project team anticipates that the AutGO project will result in establishing partnerships with a wide range of stakeholders to develop and implement an educational model for providing foundational knowledge of PCORI, and stimulating interest in the autism genetic research community to engage patients in developing research projects. This unique synergistic approach may be particularly impactful in autism because of its inherent heterogeneity, leading to better sub-typing of patients and the potential to improve outcomes. The developed engagement/educational model may serve as a basis for applying similar approaches to other conditions.