1. Data Insights for Rare Patient Cohorts
Two children with a SYNGAP1 diagnosis, one of the rare patient cohorts the Ciitizen platform supportsParents and caregivers of children diagnosed with rare genetic disorders want to understand what the diagnosis will mean for their child’s future. Studying the group of patients with the same diagnosis collectively (the patient cohort) provides valuable information. Researchers rely on patient data from medical records and surveys to advance treatments, but the experience for parents contributing this info is less than ideal.
Invitae provides genetic testing services that are used by neurologists and genetic counselors to diagnose rare conditions. Ciitizen is a medical records storage platform that organizes patients into cohorts for research initiatives and specializes in rare patients with rare neurological genetic disorders. Ciitizen seeks to provide valuable services to patients and their families who contribute to research.
How might we share insights from the cohort data to improve the standard of care for patients?
Understanding caregivers
First steps included a large research effort to learn about the diagnosis journey for rare patients and their families. This resulted in a journey map and insight placemat used with Invitae’s pediatrics team. Additional expert interviews and user landscapes helped us understand the tools used for research participation.
Interviews with caregivers, health care providers, insurance specialists, genetic counselors and patient advocate group leadersdata points are tagged to find caregiver mindsets and pain pointsClustering data points into themes and eventually creating insights..The Rare Neuro DX Odyssey Journey for caregiversAn ‘Insight placemat’ was used with Invitae’s pediatrics team to quickly share learnings and guide discussion
Problem framing
User needs were summarized into three areas we have the potential to solve for. Ciitizen’s planned redesign for the patient app offered an opportunity to add new features and our improved FHIR* data platform would add new capabilities.
*Fast Healthcare Interoperability Resources (FHIR) is a healthcare data standard with an application programming interface (API) for representing and exchanging electronic health records (EHR).
With a focused problem area to solve for, additional research was conducted to understand our data platform capabilities and data modeling resources as well as constraints for sharing health data.
Diagram of our data model in action as a new patient account is created. Moments where a patient cohort can be created are highlighted in green.
Solution concept
‘Cohort Data Insights’ is a dashboard concept that allows patients to view de-identified, aggregated data for a patient cohort. Data visualizations are generated for specific categories after meeting criteria in a review process.
First, insight themes are suggested by the patient community. Themes are considered for relevancy, information value and any possible negative impact.
Next, data from the cohort is modeled and reviewed for quality. If an insight can be confidently made from the patient cohort data it will be developed into an informative data visualization with appropriate disclaimers that can be shared within the patient community.
Two themes of insights emerged as having significant value to our rare patient families
Cohort insights are released only to members of the cohort who are contributing to research efforts. Insights are viewed as data visualizations and are updated throughout the year. The dashboard helps motivate patient communities to participate in research efforts and inform patients about medications, secondary conditions and helpful treatments.
New Dashboard for Rare Patients
Images of the new dashboard in the Ciitizen patient app. Here, insights are shown for our SYNGAP1 patient cohort.
note: these visualizations are conceptual and do not show actual data
Developing parts of the concept
Building everything for the new dashboard took multiple work streams!
Tasks included:
1. Refining insight categories with patient group feedback
Simple wireframes were used to share our dashboard concept with users and understand how the information would be used. It also helped us refine wording and clarify how to read the diagrams.
2. Modeling patient data
Our computational biology expert created a modeling tool to generate data insights. These views show how anti-seizure medications (ASMs) are utilized by patients per age, and which medications are in use.
Note: patent cohort names are not shown.
3. Creating a reusable process for developing cohort data insights.
Insights would need to be generated as needed, with steps to follow for sign-off from multiple departments.
And eventually...
4.
Developing a dashboard in the Ciitizen patient app for the new cohort insights features
Planning + soft launch
While planning the new dashboard features a soft launch was designed for our rare patient partner groups. These groups could receive our first cohort insights as social media posts to be shared by our advocate leads within each patient community. This would help socialize the concept of cohort insights, generate discussion for important topics and build trust.
Early data insights for our SYNGAP1 patient cohort. These slides were to be shared with the patient community in social media channels.