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Tackling rare disease with the voice of patients

  • February 1, 2017

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    Pete Chan Raremark

    Proponents of big data methodologies are excited about their potential applications in rare disease research, including in: drug discovery; the discovery of disease-related genes, genetic mutations and biomarkers; matchmaking of rare disease cases to help diagnose patients; and drug repurposing.

    But while great insights can be gleaned from huge datasets, equally valuable and complementary intelligence can be derived from rigorous interrogation of datasets that are relatively small.

    Interestingly, a small data movement has emerged in the past few years; its loudest cheerleader being Martin Lindstrom, the Danish author of “Small Data: The Tiny Clues That Uncover Huge Trends”. Mr Lindstrom’s world is that of marketing and branding, but it doesn’t take a huge leap to apply his principles of keen observation of small samples to people living with rare disease.

    And recent work in the field of patient-reported outcomes (PROs) has provided evidence that patient-generated medical data can be of comparable quality to data gathered from traditional sources. A group of US researchers conducted a proof-of-concept study using the chronic lymphocytic leukemia (CLL) community of PatientsLikeMe, a patient-powered research network. There are several PRO instruments specific to CLL, meaning the supporting literature contain data the researchers could use as comparators. Using a combination of online surveys and telephone interviews, they found good alignment between the symptoms that members of PatientsLikeMe’s CLL community said were important to them, and those identified through traditional interviews and patient focus groups.

    Raremark has also been exploring how to involve patients in the area of data sharing and donation, the reasons for doing so, and the implications for the patient community. In line with the small data model, we posed a series of well-defined questions to small groups of patients, using a combination of telephone interviews and online surveys. The study sample comprised Raremark users with an interest in three rare diseases: adrenoleukodystrophy, myasthenia gravis and Sanfilippo syndrome.

    Work conducted from November 2016 to January 2017 revealed an understanding of the importance of data sharing for the benefit of others, and a willingness to do so: 94% of participants said they would feel comfortable sharing selected health-related information about themselves with the community and the pharmaceutical industry.

    Raremark’s findings reflect the results of a larger study by RD-Connect, an EU-funded research initiative in rare disease, that included similar themes. As long as the right governance systems are in place, RD-Connect discovered, the rare disease patient community generally has a positive view on the sharing of data to support medical research. “All the participants understood the incentive for [rare disease] in sharing data and samples; in fact, there were several pleas for research systems to be standardised across the EU in order to make data sharing easier,” the authors wrote in the European Journal of Human Genetics.

    I’ll be discussing the Raremark project in the context of these industry trends at Patient as Partners Europe, which takes place in London on February 6-7, 2017.

    Pete Chan is Head of Research & Analysis at Raremark, a patient-powered research network in rare disease. This blog is an edited extract from Raremark’s white paper: Tackling rare disease with big and small data (

    For more information on Patients as Partners EU, view the overview here or register here. Patients in clinical trials or patient advocates in need of a scholarship, please email