Phelan-McDermid Syndrome Data Network (PMS_DN)

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PCORI funded the development of PCORnet^®, the National Patient-Centered Clinical Research Network, to make it easier and more efficient to conduct research. PCORnet is made up of Partner Networks that harness the power of large amounts of health data and patient partnerships.

Patient-Powered Research Networks (PPRNs) are networks operated and governed by patients, families, caregivers, and community members in close collaboration with clinical researchers, with the goal of shaping and conducting research to better serve their communities and improve their health outcomes. Several PPRNs, including the Phelan-McDermid Syndrome Data Network (PMS_DN), participated as Partner Networks in PCORnet.

PCORI funded PMS_DN’s participation in PCORnet from 2015 to 2018. This report outlines PMS_DN’s achievements in building its research infrastructure capacity to

1. Create ways to involve patients, families, and caregivers in decision making about the network
2. Create a way to collect and share data reported by patients for research
3. Involve patients, caregivers, families, and communities in the research process, including recruiting people to participate in research studies
4. Lead or join in research studies that focus on the community’s priorities

Network at a glance

How does the network operate?

PMS_DN gave each partner oversight of different parts of the network. The Phelan-McDermid Syndrome Foundation (the Foundation) continued to collect and store all patient data, including genetic reports, electronic health records, and information about quality of life. It stored the data in a database called a registry. Boston Children’s Hospital took the electronic health records collected by the Foundation and turned them into usable data for researchers. The Harvard team made sure data were high quality and oversaw data analysis. Together the Harvard and Boston Children’s Hospital teams created ways to share data with researchers using software. The network developed rules and processes to share data with researchers with participants’ permission.

How did the network involve patients and other partners?

A parent of a young adult with PMS led the network. The network trained families on how to collect medical records and genetic information and how to submit that data to the registry. It also connected families who were eligible to participate in research with scientists who were leading studies. A person who specializes in working with families worked to understand their needs and involve them in the research process. The specialist led a group of up to 10 parents of individuals with PMS who helped identify research priorities and review and approve research studies. The parent group also helped improve systems for sharing patient health information and recommended ways to communicate with families. The network paid members of the parent group for their time.

The network used social networking sites like Facebook to connect families with researchers, who shared information about PMS and research activities. The network offered webinars for families that described PMS research topics and helped the network learn what research topics were most important to families. The Foundation hosted a conference every two years to bring together families affected by PMS from around the world to connect with one another and learn about PMS research.

Who is in the network?

The PMS_DN contained data on 519 participants as of March 30, 2019. The registry contains medical records, genetic testing results, and information about patient experiences with PMS. While a Partner Network in PCORnet, PMS_DN participated in three studies. The network participated with other PPRNs and other networks with similar research interests. The network has a publicly available website. Users who have special permission can browse and analyze data from all data sources, and those who have the highest level of approval can request access to individual-level data.

How does the network support future research?

The Foundation continues to build the PMS International Registry and the PMS_DN and actively involve families in all stages of the research process. Partners in PMS_DN continue to do analyses to help understand the associations between different genetic changes and characteristics of PMS. They are also comparing what can be uniquely learned about the condition among different data sources, including patient billing codes, electronic health records, and patient surveys.

Glossary

Institutional Review Board (IRB): A group that follows federal regulations, state laws, and institutional policy to review, monitor, and approve research in order to protect the ethical rights and privacy of the subjects involved.

Patient-Powered Research Networks (PPRN): PPRNs are operated and governed by patient groups and their partners and are focused on particular conditions or populations.

PCORnet: PCORnet is a network of networks that brings together patients, clinicians, researchers, and healthcare systems to share information and participate in research.

Overview

PCORI funded the development of PCORnet^®, the National Patient-Centered Clinical Research Network, to make it easier and more efficient to conduct research. PCORnet is made up of Partner Networks that harness the power of large amounts of health data and patient partnerships.

Patient-Powered Research Networks (PPRNs) are networks operated and governed by patients, families, caregivers, and community members in close collaboration with clinical researchers, with the goal of shaping and conducting research to better serve their communities and improve their health outcomes. Several PPRNs, including Phelan-McDermid Syndrome Data Network (PMS_DN), participated as Partner Networks in PCORnet.

PCORI funded PMS_DN’s participation in PCORnet from 2015 to 2018. This report outlines PMS_DN’s achievements toward the PPRN goals of developing and optimizing research and engagement infrastructure capacity to

• Establish a governance structure that fully engages patients and other stakeholders for the purposes of contributing to research
• Create a data infrastructure conducive to the ongoing collection of patient-reported data
• Meaningfully engage patients, caregivers, families, and community members in the research process, including identifying and recruiting participants for clinical trials and other research studies
• Lead or partner in the conduct of comparative effectiveness studies responsive to the research priorities of their communities

Network Infrastructure

PMS_DN was established to advance knowledge about Phelan-McDermid Syndrome (PMS) and related conditions and to transform that knowledge into better care and treatment. PMS is a rare genetic condition caused by genetic changes involving the SHANK3 gene and resulting in physical, developmental, and intellectual differences. The Phelan-McDermid Syndrome Foundation (the Foundation) led the network with support from the Harvard Medical School Department of Biomedical Informatics and Boston Children’s Hospital.

Network Governance and Operations

To promote efficiency, PMS_DN gave each partner oversight of different network activities. The Foundation collects and stores genetic reports, electronic health records, and outcomes data shared by patients in the PMS registry, which the Foundation established in 2011. Genetic counselors with the Foundation and consulting geneticists collect genetic test reports from participants, confirm genetic diagnoses, and curate the data for the registry. The Harvard team oversaw all aspects of data quality and analysis. Both academic partners worked together to make information about PMS available to researchers through a large health analytics software platform. The network established procedures, applications, and an electronic system to review and approve requests from researchers to access the registry data with participant consent.

Stakeholder Engagement

The network’s principal investigator is a parent of a young adult with PMS. The network trained families on how to collect medical records and genetic information and how to submit that data to the registry. It also connected families who were eligible to participate in research with scientists who were leading studies. A family engagement specialist developed additional outreach strategies for the families of patients in the registry who had not yet become involved in network activities. The specialist ran the Parent Action Committee, a group of up to 10 parents of individuals with PMS who helped identify priority research topics, review and approve research studies, improve systems for sharing patient health information, and develop strategies for communicating effectively with families. The network compensated Parent Action Committee members for their time.

To share information about PMS research opportunities, the network also used social networking platforms like Facebook as feedback channels between families and researchers. The network offered webinars for families to gather feedback on draft research priorities to ensure that these priorities aligned with families’ preferences and experiences. The Foundation hosted a conference every two years to bring together families from around the world to connect with one another and learn about research opportunities and findings related to PMS.

Demographics and Research Capacity

PMS_DN participated in two PCORnet pilots aimed at improving data use and sharing. The network participated with other PPRNs and other networks with similar research interests. While a Partner Network in PCORnet, PMS_DN participated in a project involving multiple PPRNs called Healthy Mind, Healthy You.

The PMS_DN contained data from 519 participants as of March 30, 2019. Data were from electronic health records, genetic testing results, patient-reported outcomes on clinical development, and quality of life topics. The network has a publicly available user interface where authorized users can access integrated patient data and conduct basic statistical analyses. Those with the highest level of approved access can interact with raw patient data.

Future Opportunities

The Foundation continues to build the PMS International Registry and the PMS_DN and actively involve families in all stages of the research process. The partners in the PMS_DN continue to pursue analyses to help understand the associations between different genetic changes and characteristics of PMS. They are also comparing what can be uniquely learned about the condition among different data sources, including patient billing codes, electronic health records, and patient surveys.