Complementary Geneial software applications Bridge™ and Advocate™ are now LIVE with the Xia-Gibbs Society and working hand-in-hand to empower rare disease communities and researchers to maximize efficiency as they partner together to achieve their research goals.
Following Geneial’s beta rollout of the secure data management tool Bridge for rare disease registries, as of October 2023 Geneial is now live with the Advocate mobile application for rare disease communities. Bridge and Advocate work together to connect registry managers and genetics researchers with patient communities via a secure and HIPAA-compliant network. This combination of tools streamlines previously cumbersome tasks, such as researchers’ ability to electronically request and receive informed consent and the ongoing collection of phenotypic data such as electronic patient-reported outcomes (ePROs).
Xia-Gibbs Society Rollout
Xia-Gibbs Syndrome (XGS), a rare disease caused by genetic mutations in the AHDC1 gene, was initially discovered in 2014 by a research team at Baylor College of Medicine (BCM) led by Dr. Richard Gibbs, a global leader in genetics and the director of the Human Genome Sequencing Center. After developing and managing an in-house XGS Registry program over the last few years, they had been looking for a sustainable, long-term solution for growing a global registry in partnership with the Xia-Gibbs Society to accelerate the advancement of precision medicine for XGS.
Greg Wilkinson, Executive Director of the Xia-Gibbs Society shared, “The team at Geneial have created an efficient, user-friendly system for our community to use to populate registry data.” The XGS Registry managed by BCM was previously hosted on the REDCap platform. Geneial has developed a workflow for migrating registries from REDCap to the secure, cloud-based Geneial platform, which provides a streamlined user experience and modern, scalable database architecture. Greg continued, “We are still early in the roll-out process, and can’t wait to see the benefits this new system will bring”.
Of the partnership, Dr. Gibbs stated, “Registries are essential for studying rare disease and the secure Geneial tools reduce overall management burden because they are easy to use and are designed with global participation in mind. Getting these tools in place has been an important milestone as we work towards transitioning registry management to the Xia-Gibbs Society in a sustainable way, and in so doing free up the researchers to spend more time advancing research.”
Geneial Bridge for Researchers and Registry Managers
Bridge is a multipurpose tool for streamlining both registry management and research. For researchers, it maximizes the value of data in registries by mapping responses to standards such as the Human Phenotype Ontology (HPO) and Human Genome Variation Society (HGVS) –data formats often required by peer-reviewed journals. Complementing the emphasis on standards, the platform is still flexible to meet the data needs of any community by allowing for any number of custom, registry-specific fields. The timeline to dissemination of discoveries on that platform is also shortened by the integration of publication-ready figures and visualizations, including a genetic variant map (a figure which typically requires computer programming experience to generate).
For registry managers, Bridge streamlines participant enrollment and data capture via secure, personalized access codes and automated reminders. While raw data in the platform is password-protected, a HIPAA-compliant, public summary statistics dashboard is also available to participating registries, which can help with awareness, fundraising, and broad dissemination of summary information for a given condition. (Click here to see the latest summary dashboard of the XGS Registry.)
Thanks to ongoing work funded by the NIH, future updates to Bridge will enable registry stakeholders to maintain financial ownership and transactional-level control of how their data is used in the context of inbound data access requests from external academic, clinical, or industry partners.
Geneial Advocate for Research Participants
Launched in October 2023 in alpha/beta for the rare disease Xia-Gibbs Syndrome, Advocate is a privacy-focused mobile app available on both Apple/iOS and Android devices. The initial version includes a customizable informed consent module for seamless enrolling in trials (eConsent), the ability to complete customized questionnaires about medical history, social determinants of health (SDOH), and document management. In contrast with less privacy-focused consumer-facing applications in the genetic and digital health space, Advocate is designed to safeguard individual privacy, data ownership, and data access control. Future expansions of the app will empower the individual to maintain agency over the use and exchange of their data within patient communities, research settings, and clinical care.
The Bridge and Advocate tools will begin accepting additional rare disease registries and communities soon. Contact us for more information about deploying Bridge or Advocate for your rare disease registry.
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