Rare diseases, familiar themes. The role of the information professional in an international collaboration. Michele Hilton Boon and Jan Manson

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1 Rare diseases, familiar themes. The role of the information professional in an international collaboration. Michele Hilton Boon and Jan Manson

4 L Istituto Superiore di Sanita (ISS) Italian National Institute of Health

5 Overview Introduction to rare diseases Information specialist skills in rare diseases Existing skills? New skills? Differences: rare vs. common conditions? Information professionals contribution to rare disease projects and to international research collaborations

6 Rare diseases Defined by prevalence 5:10000 persons Often life limiting or chronically debilitating Approximately 7000 recognised rare conditions 30 million people in Europe living with a rare condition

7 Rare diseases Delayed diagnosis Lack of clinical knowledge Lack of patient information and support Limited treatment options Geographical barriers to specialist care Healthcare inequality

8 Rare disease initiatives RARE-Bestpractices A platform for sharing best practices for the management of rare diseases International Summer School: Clinical practice guidelines on rare diseases 8-12 July 2013, Rome, Italy

9 RARE-Bestpractices A platform for sharing best practices for the management of rare diseases Funding: European Union Seventh Framework Programme Coordinator: National Centre for Rare Diseases-Italian National Institute of Health Duration: 4 years (1st January st December 2016) h"p://

10 RARE-Bestpractices WP7 Collabora/on with IRDiRC WP8 Project management WP1 Project Coordina/on WP6 Dissemina/on WP5 Cost- effec/veness analyses for orphan drugs WP4 Collec*on of exis*ng guidelines and research recommenda*ons WP2 Web and database infrastructure WP3 Standard methodology for RD guidelines h"p://

11 RARE-Bestpractices WP7 Collabora/on with IRDiRC WP8 Project management WP1 Project Coordina/on WP6 Dissemina/on WP5 Cost- effec/veness analyses for orphan drugs WP4 Collec*on of exis*ng guidelines and research recommenda*ons WP2 Web and database infrastructure WP3 Standard methodology for RD guidelines h"p://

12 Guideline resources WP4 Collection of existing guidelines and research recommendations Aim: create new online databases Literature search Test searching Turner Syndrome Huntington Disease Costello Syndrome

13 Guideline resources Guideline databases Guideline International Network AHRQ National Guideline Clearing House NICE Evidence Search National guideline producers SIGN NICE GAIN: Guidelines and Audit Implementation Network (Northern Ireland) Canadian Medical Association Infobase Australian NHMRC New Zealand Guidelines Group MonashHealth Centre for Clinical Effectiveness Rare disease specific resources Orphanet EuroGentest Clinical group guideline producers RCN Clinical Guidelines Australian Safety and Efficiency Register of New Interventional Procedures (ASERNIP) Oncoline Royal College of Physicians (London and Edinburgh) Royal College of Radiologists Royal Society of Medicine American Cancer Society British Association of Surgical Oncology Royal College of Surgeons Primary literature PubMed Internet searching Google PDF top 100

14 Results Turner syndrome Huntington s Costello syndrome Source Recall Yield (%) Recall Yield (%) Recall Yield (%) G-I-N database 2 0 (0) 1 1 (100) 1 0 (0) National Guidelines Clearinghouse 71 0 (0) 12 1 (8.3) 6 0 (0) Orphanet 1 0 (0) 5 1 (20) 2 0 (0) Eurogentest 2 0 (0) 65 1 (1.5) 1 0 (0) PubMed 27 3 (11.1) 34 4 (11.8) 1 0 (0) Evidence Search (NICE) (0.5) 52 0 (0) 53 0 (0) Google pdf first (4) -- 7 (7) -- 0 (0) Pearl growing Total (0.7) (6.5) 64 0 (0) Hilton Boon et al (2014)

15 Resource Orphanet G-I-N National Guidelines Clearinghouse EuroGentest molecular testing EuroGentest clinical utility gene cards URL NICE Evidence Search Google (first 100 PDFs) PubMed www.

16 Existing skills Knowledge of information resources Appropriate search techniques Systematic approach New skills Adjusted horizons RD information retrieval Differences: rare vs. common conditions Source of documents Range of publications Mixed searching methods

17 RARE-Bestpractices WP7 Collabora/on with IRDiRC WP8 Project management WP1 Project Coordina/on WP6 Dissemina/on WP5 Cost- effec/veness analyses for orphan drugs WP4 Collec*on of exis*ng guidelines and research recommenda*ons WP2 Web and database infrastructure WP3 Standard methodology for RD guidelines h"p://

18 Database design Specific information How it will be used Associated information required Citation for guideline (title, author, date, hyperlink etc) (required field) Language (required field) To retrieve records by keyword To allow users to access fulltext guideline To be exported as part of reference list or as file (Word, EndNote Library) To allow users to limit searches by language of guideline document Fields for data input to match import filters for citation management software/vancouver reference format Standard list of international languages Name of condition(s) covered by guideline (required field) Clinical coding To search and retrieve records by disease topic To allow browsing by disease topic To index guidelines as they are entered into the database Linked to controlled vocabulary, to allow maximum interoperability and futureproofing Controlled vocabulary of disease names. Selection of this will require input from partners. MeSH terms or Orphanet index terms are possibilities. Search by symptom and body system have also been proposed; these would also require controlled vocabularies. Clinical input would be required to index documents by symptom and/or to link the diseases table with the symptoms table. ICD-10, ICD-11, OMIM, SNOMED datasets would need to be stored in tables and linked to the index vocabulary

19 RD database design Existing skills Knowledge and experience of databases Cataloguing protocols Use of taxonomies and controlled vocabulary New skills Consultation and collaboration with stakeholders Differences: rare vs. common conditions Different taxonomies but same principles

20 Rare disease initiatives International Summer School: Clinical practice guidelines on rare diseases 9-11 July 2012, 8-12 July 2013, Rome, Italy

21 Teaching

22 Diagnostic categories and subgroup analyses important Issues of small numbers and statistical power Critical appraisal

23 Quality of registries important Challenges of statistics and interpretation Critical appraisal

24 Information skills in RD Existing skills Use of range of appraisal tools Understanding sources of bias Delivering training to healthcare professionals New skills Understanding diagnostic categories/subgroup definitions Differences: rare vs. common conditions Importance of non-randomised studies Different criteria of importance in randomised studies Small numbers may have large impact

25 How you can get involved

26 How you can get involved

27 How you can get involved h>p://rarejournal.org

28 Summary Existing skills in information retrieval, collection and appraisal have been of value throughout the project Opportunity to acquire new skills and knowledge relating to different landscape of taxonomy, study types, stakeholders, and guideline development Differences: rare vs. common conditions More similarities than differences

29 References and contacts Jan Manson Evidence and Information Scientist, Healthcare Improvement Scotland. Michele Hilton Boon Programme Manager, Healthcare Improvement Scotland. Hilton Boon M, Ritchie K, Manson, J. Improving the retrieval and dissemination of rare disease guidelines and research recommendations: a RARE-Bestpractices Initiative. Rare Diseases and Orphan Drugs. 2014;1(1). Available from:

EURORDIS-NORD-CORD Joint Declaration of. 10 Key Principles for. Rare Disease Patient Registries

EURORDIS-NORD-CORD Joint Declaration of 10 Key Principles for Rare Disease Patient Registries 1. Patient Registries should be recognised as a global priority in the field of Rare Diseases. 2. Rare Disease