This article discusses Phelan-McDermid Syndrome and the Patient Powered Research Network.
Phelan-McDermid Syndrome (PMS) is a rare neurodevelopmental disorder, with only about 1,400 cases reported. It is caused either by a 22q13 deletion – a region within the long arm of chromosome 22 – or a mutation within the SHANK3 gene (found within this region). Symptoms of PMS include hypotonia (low muscle tone), intellectual disability, developmental delay, distinct facial features, behavioral disorders, and cardiac defects.
The Phelan-McDermid Syndrome Data Network (PMS_DN) is a Patient Powered Research Network (PPRN) – a network led by patients that makes information such as clinical data and patient outcomes readily available for research studies. Patients and their families are directly in charge of controlling the data and collaborating with research institutions for projects that they find important. The goal of this article is to show how the PMS_DN aids in the development of research projects, and how more networks like these should be utilized for other rare genetic disorders.
The main purpose of PMS_DN is to provide researchers with quality, reliable information while also protecting patient privacy. This is accomplished by thorough patient de-identification processes, which remove any personal information from clinical data, so that the patients’ identities are not compromised. Therefore, data regarding the patient – including symptoms, symptom severity, medical history, family history, clinical notes, and self-observed outcomes – are readily available, all without revealing private information. Data sharing and collaboration is also allowed, but only under strict criteria, as to not compromise patient privacy.
This paper describes in detail the usefulness of PMS_DN as a tool to drive research opportunities for PMS. It also proves to be an model example of a PPRN with the goal to drive rare genetic disorder research. Since there are so few cases for these rare genetic disorders, PPRNs give researchers the ability to use all the data that is currently available to make holistic evaluations of the disorders. And since it is patient-driven, patients give priority to research projects that would be most beneficial to them. PPRNs provide a system that is beneficial to both patients and researchers: patients have control of the data and know that their privacy is protected, and researchers have more data to use to conduct thorough investigations and assessments.
Kothari, et al. “Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports”. American Journal of Medical Genetics 2017, part B, in press.