Magazine article The Exceptional Parent

Patient-Centered Research Starts Early: Impacts on Joubert Syndrome and Other Related Disorders

Magazine article The Exceptional Parent

Patient-Centered Research Starts Early: Impacts on Joubert Syndrome and Other Related Disorders

Article excerpt

When scientists conduct clinical research, the traditional method is for the researcher to be the main contributor in the creation of the idea, the study, and the final publication of results. Patients and caregivers are typically only involved at the final stages: dissemination of results and the implementation of practice and policy changes. With this method, important stakeholders are excluded from the conversation at critical points. Many diverse ideas and perspectives are not being involved in the research process, which leaves a great amount of untapped potential for medical advancement. Researchers also tend to conduct their studies independently and quietly because of concerns regarding intellectual property and competition for funding. Data is kept private and things are done behind closed doors, which severely limits progress. What can be done to change this paradigm?


The answer to the traditional research limitation lies within open crowd-sourcing forums aimed at involving diverse populations of people in the initiation, development, refinement, and finalization of research projects. The Community Engaged Network for All (CENA) and Mosaic recognize and capitalize on this opportunity for growth.

CENA is a network of disease advocacy organizations that engage their respective communities in the advancement of healthcare and health research by developing registries designed around the concerns of individuals and their communities. CENA is a key component of the Patient Powered Research Networks (PPRNs), which are all a part of a larger movement within the National Patient-Centered Clinical Research Network (PCORnet). This movement is aimed at working towards patient centricity in research by involving patients and caregivers at all points of the research process, especially at the critical points. CENA embodies the goals of PCORnet in a way that is unique from other PPRNs by using the Platform for Engaging Everyone Responsibly (PEER). PEER is a highly customizable system; groups create a survey that best serves their community and selects community leaders, known as guides, who help fellow participants choose the right options for sharing. Each guide gives suggestions to participants with low, medium, and high privacy concerns pertaining to sharing their health information with other support groups, researchers, and data analysis platforms. Each participant can select one of the guide's suggested privacy settings, modify a guide's settings to better reflect their own privacy preferences, or create their preferences manually. The end result is a group-specific portal used to collect health information from patients, by patients themselves, or by their caregivers.


Mosaic is an online tool and crowdsourcing model designed to develop research studies to make use of the information collected in PEER in an open, collaborative research protocol development process. Mosaic was deployed and is managed by CENA's Clinical Data Research Network (CDRN) partners at the University of California, San Francisco (UCSF) and the UCSF Clinical and Translational Science Institute (CTSI). Mosaic brings people together with many different perspectives on challenges specific to a condition or community and allows them to collaborate online in designing and conducting research studies. Mosaic is open to the public: anyone with interest in research on a condition or issue is welcome to participate. Mosaic allows participants to contribute to discussion threads related to a particular disease or community issue in hopes of discovering the common questions and themes among all types of stakeholders--from patients and their families, to advocates, to researchers and healthcare providers--to draft a research plan. Researchers can then guide their studies using this information to ensure that they are focusing on what is important to everyone impacted by the disease. …

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