The potential of social computing for biomedical research on rare diseases [5 Cr3 1330 Cabrera]

Cabrera Giraldez, M. et al.:The potential of social computing for biomedical research on rare diseases

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The potential of Social Computing for Biomedical Research on Rare Diseases

Medicine 2.0 Conference – Toronto Sept. 4-5

M. Cabrera, Institute for Prospective Technological Studies

Joint Research Centre, European Commission

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IPTS: Part of DG JRC of the EC7 Research Institutes across Europe

Mission: “to provide customer-driven support to the EU policy-making process by researching science-based responses to policy challenges that have both a socio-economic as well as a scientific/technological dimension”

Modus operandi: desk research, expert groups, modelling, centres of expertise

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Objectives of our exploratory work

• Assessing the potential of Web 2.0 for rare diseases

• Assessing to what extent web 2.0 can be used for research purposes and how it can be optimized

• To determine what public policy can do to enhance/make more efficient the existing applications and possible role of actors involved

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Families and patients

The 5 actors

Researchers

IndustryAdministration

1+1+1+1+1> 5

Clinicians

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• Very low population densities• Rare Diseases (RD) usually chronic, difficult to manage, some disregarded by the research/medical community and policy makers. Public health policy makers react to threats and prevalence, much less to RDs• Research on RD scarce and scattered• Limited market for the Pharma RD called “orphan diseases”, i.e. orphan of research, of market, and of policies

EC: policy on Orphan Drugs: The Orphan Medicinal Product Regulation (includes incentives to encourage research on RD). 2000. White Paper "Together for Health: A Strategic Approach for the EU 2008-2013" Public consultation regarding a European Action in the field of RD. EC-funded research projects: (e.g. e-RARE)

..and a priority for the French Presidency

RARE DISEASES: some facts /1

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RD patients and their orgs (~1700 in the EU) amongst the most motivated for connectivity groups

In research they have been trying to bridge the public research gap.

6 – 8 % population (25.000.000 Europeans ( ~ BENELUX )

5.000 – 8.000 RDs. 80% genetic Prevalence < 1 / 2.000 Orphan treatments

http://www.eurordis.org

RARE DISEASES: some facts /2

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Users as producers (prosumers) Many to many, person to person communication Usage of ICT for communication rather than transaction

information more useful than transaction Collective management of reputation Self-regulation Syndication – mash up content and open content

Web 2.0 trends

Our working definition: Social computing (or web 2.0) refers to digital applications that enable interaction and collaboration in such a way that

users become participants (co-creators not end-users) that are strengthened through the network (as a collective resource) RDs:

Connecting off-line communities with virtual onesChange of

Attitude

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In general, a potential of social computing (web2.0) for…

Supporting patients and families

Helping the clinicians

Contributing to Research

The NewScientist 17.5.08

Potential

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CollabRx

http://collabrx.com/index.php

Collaborative research developed by the Hide & Seek Foundation for Lysosomal Disease Research, and sponsored by the Dana’s Angels Research Trust (DART)

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Multiple Sclerosis

Incipient positive experience http://www.nationalmssociety.org/research/researchers-need-you/index.aspx

MySpace

1 / 700

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ALS at Patientslikeme

6/100,000

http://www.patientslikeme.com/researchSee how ALS patients taking an experimental treatment, lithium, are doing in real-time.

3.000 patients registered (7.000 in MS)

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Rareshare.org

Kassett is an investor in Nutra Pharma launch Rareshare.org, a social networking site for people with rare diseases. Nutra Pharma is currently testing a drug for adrenomyeloneuropathy (AMN).

Discussion groups set up for 580 diseases, beta version, incipient

http://rareshare.org/communities/adrenomyeloneuropathyhttp://rareshare.org/communities/systemic-capillary-leak-syndrome

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IAN Project/1

Interactiv autism network (IAN Project) IAN Community IAN Research

http://www.ianproject.org, http://iancommunity.org

Reproduced with permission of Kennedy Krieger Institute, Baltimore, MD

An innovative online project designed to accelerate the pace of autism research by linking researchers and families.

Families

Care providersResearchers

Scientific ideas & priorities

New knowledge

Data

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Researchers using IAN for Subject Recruitment

Researchers: Have access to a large and growing data set Are able to recruit subjects efficiently Are provided with detailed symptom prevalence and treatment data Are given a forum Share their insights with other researchers worldwide

IAN Project/2

With permission of Kennedy Krieger Institute, Baltimore, MD (adapted)

Problems and Opportunities: Subject recruitment difficulties. Mistrust between families and researchers because of the “refrigerator mother” legacy Treatments for autism, and the vaccine controversy. Parents are the primary source of information. Many parent-report psychometric tools exist.….

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Supporting the claim that there is a market place global

- Let the ´customers´ do the work- Social networks closeness,

concentration, sufficient cases to invest

– Example: 21.000 families with autism patients associated in only one year on IAN Project

(iHealthBeat, 18/03/2008)

Anderson, 2004 http://www.longtail.com)

The “Long Tail” theory and RD Social Networks

A new market place?

A message for the Pharma: increasing collaboration and voluntary activities contribute to commercial productivity (long tail)

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Multidisciplinary Focus GroupSeville Aug. 2008

General consensus on the potential of web 2.0:– A central place for patients (often geographically dispersed and isolated)– For both evidenced-based and not scientifically validated info but

experienced by patients.– Could improve QoL although this yet to be studied scientifically– Research outcomes could be found (freak occurrences, drug

interactions, social science outcomes, clinical outcomes)– A model of innovation (e.g., champions; innovators)– Main challenges: privacy, confidentiality, informed consent– Technology: no need to reinvent the wheel. Open source for more

interoperability

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Challenges/1

Different scales, different levels of info: 1) Input for new research questions 2) Adverse effects of drugs 3) Social research 4) Clinical outcomes

How to best connect experts from different fields Finding patients and organisations to develop pilots Getting science out of noisy RDs blogging Competition among platforms scattering of research efforts? Membership participation or open participation? Inclusion

– Connection speed, economic status, physical or mental disabilities, age, accessibility in developing countries

Languages– Difficulties to get accurate statistics and interconnectivity

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Challenges/2

Methodologies to extract knowledge for research out structured/unstructured information– Ontologies for natural language and semantics, granularity, distilling, digesting the info,

coping with ambiguity and redundancy

Validation of information/opinions– Bias, peer reviewing v. volume reviewers?

– Existing networks could be play a validation role (e.g. Orphanet)

Ambiguity in RD and Trust– Synonyms, patients even enrolling wrongly, Informed Consent

Data Protection – Reuse of patient data for other purposes? -e.g. insurances, employers, risk of misuse by

criminal groups? - e.g. YouTube video threatening patients); interest groups (unclear who pays and what for)

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Conclusions/1

“Advantage”: RD patients more desperate to find a solution more active and likely to give personal data and experiences

Public policy– A variety of policies (health, research, technology, inclusion …)– Support research on Social Sciences (e.g. understand roles of lurkers)– IPR policies (different amongst EU countries). – Data protection v. making easier for researchers the use of anonymized data– Endorsement of sites, thereby increasing trust: a patient charter? EU "trust stamp"

Health service provision/Administration – Give incentives to health professionals; encourage patients to use– RD communities as hospital-based platforms of excellence, incorporate into financial

structure of healthcare systems and technology assessment

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Governance– Privacy and data confidentiality; purchasing of Pharma while advising RD

as a vulnerable group, HonCode, HCBE… could be insufficient

Resource generation – Shape and support educational system to incorporate web 2.0 into health

professional training

Market & Business, Sustainability & Financing– Private funding/patients orgs. Very early business models.– Sustainable when proven useful; premium services not a good idea– EU starts-ups looking for risk capital, although few investors wishing to invest

Conclusions/2

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