Cabrera Giraldez, M. et al.: The potential of social computing for biomedical research on rare diseases This slideshow, presented at Medicine 2.0’08 , Sept 4/5 th , 2008, in Toronto, was uploaded on behalf of the presenter by the Medicine 2.0 team Do not miss the next Medicine 2.0 congress on 17/18th Sept 2009 ( www.medicine20congress.com ) Order Audio Recordings (mp3) of Medicine 2.0’08 presentations at http://www.medicine20congress.com/mp3.php

This slideshow, presented at Medicine 2.0’08 , Sept 4/5 th , 2008, in Toronto, was uploaded on behalf of the presenter by the Medicine 2.0 team

Do not miss the next Medicine 2.0 congress on 17/18th Sept 2009 ( www.medicine20congress.com )

Order Audio Recordings (mp3) of Medicine 2.0’08 presentations at http://www.medicine20congress.com/mp3.php

The potential of Social Computing for Biomedical Research on Rare Diseases Medicine 2.0 Conference – Toronto Sept. 4-5 NOTES 1. PLACE, DATE AND EVENT NAME 1.1. Access the slide-set place, date and event name text box beneath the JRC logo from the Slide Master. 1.2. Do not change the size nor the position of that text box. 1.3. Replace the mock-up texts for the place (“Place”), the date (“dd Month YYYY”) and the event name (“Event Name”) with your own texts. 1.4. Set it in MetaPlus Book Roman, if you own the typeface. Otherwise, keep the original typeface – Arial. 1.5. Keep the original flush-left justification. 1.6. Keep the original font colour (white). 1.7. Keep the original font body size (7 pt) and the text on one single line. 2. SLIDE NUMBER 2.1. The slide number on the banner’s lower right-hand side is automatically generated. 3. SLIDES 3.1. Duplicate the first slide as needed. 3.2. Do not change the size nor the position of the slide’s text box. 3.3. Try not to place more text on each slide than will fit in the given text box. 3.4. Replace the mock-up heading text (“Joint Research Centre (JRC)”) with your own text heading. 3.5. Set it in Eurostile Bold Extended Two or in Helvetica Rounded Bold Condensed, if you own one of these typefaces. Otherwise, keep the original typeface – Arial. 3.6. Keep the original flush-left justification. 3.7. Keep the original font colour (100c 80m 0y 0k). 3.8. Keep the original font body size (28 pt) and the heading on one single line whenever possible. Reduce the font body size if needed. 3.9. Replace the mock-up text (“The European Commission’s Research-Based Policy Support Organisation)”) with your own text. 3.10. Set it in MetaPlus Book Roman, if you own the typeface. Otherwise, keep the original typeface – Arial. 3.11. Keep the original flush-left justification. 3.12. Keep the original font colour (100c 80m 0y 0k). Use black if you need a second colour. 3.13. Keep the original font body size (22 pt) or reduce it if unavoidable. 3.14. Replace the EU-27 map mock-up illustration with your own illustration(s). 3.13. Try to keep your illustration(s) right- and top- or bottom-aligned with the main text box whenever possible. M. Cabrera, Institute for Prospective Technological Studies Joint Research Centre, European Commission

IPTS : Part of DG JRC of the EC 7 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

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

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

Families and patients The 5 actors Researchers Industry Administration 1+1+1+1+1> 5 Clinicians web 2.0

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 NOTES 1. PLACE, DATE AND EVENT NAME 1.1. Access the slide-set place, date and event name text box beneath the JRC logo from the Slide Master. 1.2. Do not change the size nor the position of that text box. 1.3. Replace the mock-up texts for the place (“Place”), the date (“dd Month YYYY”) and the event name (“Event Name”) with your own texts. 1.4. Set it in MetaPlus Book Roman, if you own the typeface. Otherwise, keep the original typeface – Arial. 1.5. Keep the original flush-left justification. 1.6. Keep the original font colour (white). 1.7. Keep the original font body size (7 pt) and the text on one single line. 2. SLIDE NUMBER 2.1. The slide number on the banner’s lower right-hand side is automatically generated. 3. SLIDES 3.1. Duplicate the first slide as needed. 3.2. Do not change the size nor the position of the slide’s text box. 3.3. Try not to place more text on each slide than will fit in the given text box. 3.4. Replace the mock-up heading text (“Joint Research Centre (JRC)”) with your own text heading. 3.5. Set it in Eurostile Bold Extended Two or in Helvetica Rounded Bold Condensed, if you own one of these typefaces. Otherwise, keep the original typeface – Arial. 3.6. Keep the original flush-left justification. 3.7. Keep the original font colour (100c 80m 0y 0k). 3.8. Keep the original font body size (28 pt) and the heading on one single line whenever possible. Reduce the font body size if needed. 3.9. Replace the mock-up text (“The European Commission’s Research-Based Policy Support Organisation)”) with your own text. 3.10. Set it in MetaPlus Book Roman, if you own the typeface. Otherwise, keep the original typeface – Arial. 3.11. Keep the original flush-left justification. 3.12. Keep the original font colour (100c 80m 0y 0k). Use black if you need a second colour. 3.13. Keep the original font body size (22 pt) or reduce it if unavoidable. 3.14. Replace the EU-27 map mock-up illustration with your own illustration(s). 3.13. Try to keep your illustration(s) right- and top- or bottom-aligned with the main text box whenever possible. RARE DISEASES: some facts /1

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

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

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

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 ones Change of Attitude

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

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

Supporting patients and families

Helping the clinicians

Contributing to Research

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)

Multiple Sclerosis Incipient positive experience http://www.nationalmssociety.org/research/researchers-need-you/index.aspx MySpace 1 / 700

ALS at Patientslikeme 6/100,000 http://www.patientslikeme.com/research See how ALS patients taking an experimental treatment, lithium, are doing in real-time . 3.000 patients registered (7.000 in MS )

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

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 providers Researchers Scientific ideas & priorities New knowledge Data

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. … .

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

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.

… .

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)

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)

Multidisciplinary Focus Group Seville 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

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

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

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

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)

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)

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. u nderstand roles of lurkers) IPR policies (different amongst EU countries). Data protection v. making easier for researchers the use of anonymized dat a Endorsement of sites, thereby increasing trust: a patient charter? EU &quot;trust stamp&quot; 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

“ 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. u nderstand roles of lurkers)

IPR policies (different amongst EU countries).

Data protection v. making easier for researchers the use of anonymized dat a

Endorsement of sites, thereby increasing trust: a patient charter? EU &quot;trust stamp&quot;

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

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 usefu l; premium services not a good idea EU starts-ups looking for risk capital, although few investors wishing to invest Conclusions/2

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 usefu l; premium services not a good idea

EU starts-ups looking for risk capital, although few investors wishing to invest

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