Genomic and Phenotypic Diaries: A New Model for Patient Engagement

Jeanne Barnett
CEO and Founder,,

Alec Pettifer
Director Patient Insights,

Corey Nislow
University of British Columbia
CRC Tier 1 Chair in Translational Genomics

C, a non-profit, global online community of over 18,000 cystic fibrosis (CF) patients and caregivers, has launched a study to begin to leverage the potential benefit of genomic data sharing in the context of this genetic disease. The community was founded in 1996 on the principles of sharing information and putting the patient first, now more commonly addressed as “big data” and characteristic of recent “patient-centric” initiatives.

In response to a 2017 survey, more than 1200 patients and caregivers provided valuable details including their attitudes towards a new technology-based model of patient engagement with researchers and the pharmaceutical industry. Key survey results demonstrate the untapped potential of these patients and caregivers, in partnership with researchers and industry, to effect rapid, positive change:

  1. Less than 15% of respondents are currently using modern technologies to capture and share data
  2. None of the available technologies are designed for CF
  3. 80% find value in an app that will help them manage their medications
  4. 96% of CF patients and caregivers want to share their data to help this community
  5. 53% of CF patients and caregivers think it is appropriate to be compensated for sharing their data
  6. At least 60% of patient and caregivers are willing to collect, store, track and share data about medications, lab test results, symptoms and severity, self-care activities, nutrition, lifestyle activities, moods, etc.

Since the completion of this survey and analysis of its results, has been looking into the best approach to collect, store, track, share, and monetize the genomic and phenotypical diaries of participating CF patients. A mobile app for a person who has a genetic disease promises to, among other benefits, help match current treatments and new applications of existing drugs, such as those that correct or ameliorate the genetic error(s) that characterize CF. In this approach patients and caregivers are given the opportunity to decide how to share their “Genomic and Phenotypic Diaries” for discovery, research, and/or compensation. To build a virtuous cycle in which the patients supply their data and are compensated, a test was designed where de-identified data are stored with access controlled by the patients, who then decide to with whom to share them. Blockchain and related decentralized, distributed and public digital ledgers can be ideal for this purpose.

The individual best equipped to collect those data is the patient who deals with these challenges every day. This longitudinal, 4-month study of 150 patients will include one-time whole exome sequencing and periodic microbiome sequencing. This project will capture real-time data that encapsulate the dynamics of disease progression and allow for untangling causal influences from simple correlations.

The success of this endeavor will be judged by the extent to which traditional drug developers (Pharma and Biotech) embrace this model of compensation and engage with a community ready to improve their quality of life.

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