Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.



Published on

  • Be the first to comment

  • Be the first to like this


  1. 1. Evidence Based Medicine searching: is genetics coverage sufficient? Terence M Harrison Clinical Librarian, Health Sciences Library, Royal Melbourne Hospital
  2. 2. EBM/Human Genome Variation: towards personalised health care <ul><li>“… the evidence base for many genetic technologies, patient management interventions and services is very weak…cancer services across the world are being developed on the basis of ‘expert consensus’, not formal syntheses of rigorous evidence’*. </li></ul><ul><li>‘ The Challenge of developing evidence-based genetics health care in practice’, by Brenda J Wilson. Familial Cancer, 2006; 5(55-59). </li></ul>
  3. 3. EBM/Human Genome Variation: identifying the interface <ul><li>According to Bracken* there is a serious need for electronic evidence-based systematic reviews for genomic epidemiology: </li></ul><ul><ul><li>To identify publication bias </li></ul></ul><ul><ul><li>Provide study replication </li></ul></ul><ul><ul><li>Allow for sub-group analyses </li></ul></ul><ul><ul><li>Enable meta-analyses of data </li></ul></ul><ul><li>According to Ionnidis+, possibly 70% of published gene association studies have unreliable results. </li></ul><ul><li>*’Genomic Epidemiology of Complex Disease: the need for an electronic Evidence-based approach to research synthesis’, by Michael B Bracken. American Journal of Epidemiology, 2005; 162(4):297-301. </li></ul><ul><li>+ ‘Genetic Associations: false or true?’ by J P A Ionnidis. Trends Molecular Medicine, 2003;9:135-8. </li></ul>
  4. 4. The EBM/Human Genome Variation: at the crossroads <ul><li>A wealth of Genetics and Human Genome Varaiation resources exist </li></ul><ul><li>Similarly, there is a wealth of clinical evidence sources </li></ul><ul><li>But what of the crossover? </li></ul><ul><li>And are there other ways of searching this interface? </li></ul>
  5. 5. EBM/Human Genome Variation: tools <ul><li>A handful of dedicated search engines that provide an interface between human genetic content and EBM: </li></ul><ul><ul><li>PubMed Clinical Queries (Medical Genetics) </li></ul></ul><ul><ul><li>National Library for Health (Genetic Conditions) </li></ul></ul><ul><ul><li>TRIP (Genetics) </li></ul></ul><ul><ul><li>EBM Online (BMJ) – Genetics </li></ul></ul><ul><ul><li>EBM Sources (Genetics subsection) – University of Laval (France) </li></ul></ul>
  6. 6. EBM/Human Genome Variation: other sources <ul><li>Resources below provide for searching on Variation (Genetics) and condition: </li></ul><ul><li>Cochrane </li></ul><ul><li>PubMed Clinical Queries (EBM filtered search): </li></ul>
  7. 7. PubMed Clinical Queries: Medical genetics search engine <ul><li>An EBM search facility that provides for searching by: </li></ul><ul><li>Diagnosis </li></ul><ul><li>Differential Diagnosis </li></ul><ul><li>Clinical Description </li></ul><ul><li>Management </li></ul><ul><li>Genetic Counselling </li></ul><ul><li>Molecular Genetics </li></ul><ul><li>Genetic Testing </li></ul><ul><li>Also by: Therapy, Diagnosis, Aetiology, Prognosis. </li></ul><ul><li>URL: </li></ul>
  8. 8. PubMed Clinical Queries: Medical genetics search engine <ul><li>Example of a PubMed CQ (Medical genetics) search string (hidden) on colorectal cancer: </li></ul><ul><li>(&quot;colorectal cancer&quot;) AND ((Diagnosis AND genetics) OR (Differential Diagnosis[MeSH] OR Differential Diagnosis[Text Word] AND genetics) OR (Natural History OR Mortality OR Phenotype OR Prevalence OR Penetrance AND genetics) OR (therapy[Subheading] OR treatment[Text Word] OR treatment outcome OR investigational therapies AND genetics) OR (Genetic Counseling OR Inheritance pattern AND genetics) OR (Medical Genetics OR genotype OR genetics[Subheading] AND genetics) OR (DNA Mutational Analysis OR Laboratory techniques and procedures OR Genetic Markers OR diagnosis OR testing OR test OR screening OR mutagenicity tests OR genetic techniques OR molecular diagnostic techniques AND genetics)) </li></ul>
  9. 9. National Library for Health: Genetic Conditions <ul><li>Also known as Genepool, the NLH (National Library for Health) Genetic Conditions specialist library is run by the National Genetics Education and Development Centre </li></ul><ul><li>URL: </li></ul><ul><li>Brings together information on genetics and genetic conditions, from a variety of sources, including: </li></ul><ul><ul><li>Clinical Guidelines </li></ul></ul><ul><ul><li>Systematic Reviews </li></ul></ul><ul><ul><li>Best practice articles </li></ul></ul><ul><ul><li>Patient information leaflets </li></ul></ul>
  10. 10. National Library for Health: Genetic Conditions <ul><li>Results: </li></ul><ul><ul><li>Guidelines/Pathways </li></ul></ul><ul><ul><li>Evidence </li></ul></ul><ul><ul><li>Reference </li></ul></ul><ul><ul><li>Education/CPD </li></ul></ul><ul><ul><li>Patient info </li></ul></ul>
  11. 11. National Library for Health: Genetic Conditions <ul><li>Evidence synopses: </li></ul><ul><li>Guidelines produced by genetics professional body/ government /health authority </li></ul><ul><li>Clinical evidence </li></ul><ul><li>Guidelines Finder </li></ul><ul><li>NICE </li></ul><ul><li>SIGN </li></ul><ul><li>Prodigy </li></ul><ul><li>Effective Health Care : Bulletin on the effectiveness of health service interventions </li></ul><ul><li>National Guideline Clearing House (USA) </li></ul><ul><li>GHR (Genetics Home Reference) </li></ul>
  12. 12. National Library for Health: Genetic Conditions <ul><li>Systematic Reviews: </li></ul><ul><li>Cochrane Library </li></ul><ul><li>CATS ( Critical Appraised Topics) </li></ul><ul><li>POEMs ( Patient-Oriented Evidence that Matters) </li></ul><ul><li>Best BETS ( Best Evidence Topics) </li></ul><ul><li>DARE </li></ul><ul><li>Bandolier </li></ul><ul><li>Medline /PubMed (Using filter to retrieve systematic reviews only) </li></ul><ul><li>CINAHL (Using filter to retrieve systematic reviews only) </li></ul>
  13. 13. National Library for Health: Genetic Conditions <ul><li>Primary Literature: </li></ul><ul><li>The Cochrane Central Register of Controlled Trails </li></ul><ul><li>Medline (normally using Clinical Queries search filter) </li></ul><ul><li>Health Technology Assessment database </li></ul><ul><li>Health Care Needs Assessment </li></ul><ul><li>Genisys (Edinburgh Genetics Unit) </li></ul>
  14. 14. National Library for Health: Genetic Conditions <ul><li>Other sources: </li></ul><ul><ul><li>Gateways to evidence based resources </li></ul></ul><ul><ul><ul><li>OMNI </li></ul></ul></ul><ul><ul><ul><li>Netting the Evidence </li></ul></ul></ul><ul><ul><li>Web search engines </li></ul></ul><ul><ul><ul><li>National Library for Health </li></ul></ul></ul><ul><ul><ul><li>SUMsearch </li></ul></ul></ul><ul><ul><li>Journals </li></ul></ul><ul><ul><ul><li>Nature </li></ul></ul></ul><ul><ul><ul><li>Science </li></ul></ul></ul><ul><ul><ul><li>The Lancet </li></ul></ul></ul><ul><ul><ul><li>New England Journal of Medicine </li></ul></ul></ul><ul><ul><ul><li>New Scientist </li></ul></ul></ul><ul><ul><ul><li>The Scientist </li></ul></ul></ul>
  15. 15. Trip (Turning Research Into Practice): Genetics section <ul><li>URL: </li></ul><ul><li>Journals indexed: </li></ul><ul><ul><li>Nature Genetics </li></ul></ul><ul><ul><li>Nature Reviews. Genetics </li></ul></ul><ul><ul><li>Journal of Medical Genetics </li></ul></ul><ul><ul><li>Trends in Genetics </li></ul></ul><ul><ul><li>Annual Review of Genetics </li></ul></ul><ul><ul><li>American Journal of Human Genetics </li></ul></ul><ul><ul><li>American Journal of Medical Genetics </li></ul></ul><ul><ul><li>Clinical Genetics </li></ul></ul><ul><ul><li>BMC Medical Genetics </li></ul></ul><ul><ul><li>European Journal of Human Genetics </li></ul></ul><ul><ul><li>Cytogenetics </li></ul></ul>
  16. 16. EBM Online (BMJ) - Genetics <ul><li>URL: </li></ul><ul><li>Includes following journals: The BMJ , Molecular Pathology , Journal of Clinical Pathology , British Journal of Ophthalmology , Tobacco Control , Postgraduate Medical Journal , Injury Prevention , Practical Neurology , Heart , BMJ Career Focus , Archives of Disease in Childhood - Education and Practice , Annals of the Rheumatic Diseases , Archives of Disease in Childhood - Fetal and Neonatal Edition , Journal of Epidemiology and Community Health , Journal of Neurology, Neurosurgery, and Psychiatry , Journal of Medical Genetics , Journal of Medical Ethics , Quality and Safety in Health Care , Emergency Medicine Journal , Evidence-Based Mental Health , Archives of Disease in Childhood , Gut , Medical Humanities , Thorax , Occupational and Environmental Medicine , Evidence-Based Nursing , British Journal of Sports Medicine , and Sexually Transmitted Infections </li></ul>
  17. 17. EBM Sources (Genetics subsection) – University of Laval (Canadian) <ul><li>URL: </li></ul><ul><li>Over 114 evidence sites indexed </li></ul><ul><li>All evidence based </li></ul><ul><li>Includes a Genetics subsection </li></ul>
  18. 18. EBM/Human Genome Variation: searching via MeSH <ul><li>MeSH term = “ Variation (Genetics)” </li></ul><ul><li>Add term to genetic condition (e.g. homocystinuria) in search string </li></ul><ul><li>EBM search sources include: </li></ul><ul><ul><li>PubMed Clinical Queries (filtered to systematics reviews, RCTs, etc)* </li></ul></ul><ul><ul><li>Cochrane (as above) </li></ul></ul><ul><li>*Note: you can also search by IHOP ( Information Hyperlinked Over Proteins ) then compare results with results from a PubMed CQ search </li></ul>
  19. 19. Genomic-based guidelines <ul><li>Examples at National Metabolic Biochemistry Network (UK, NHS): </li></ul><ul><li>MetBio has an assay directory to source laboratory testing services in the UK for specialist metabolites and enzymes for inherited metabolic disorders. </li></ul><ul><li>Currently around a dozen guidelines available (not evidence based) at MetBio. </li></ul>
  20. 20. Example of a Genomic guideline <ul><li>“ THE USE OF FOLIC ACID FOR THE PREVENTION OF NEURAL TUBE DEFECTS AND OTHER CONGENITAL ANOMALIES”* </li></ul><ul><li>A systematic review of literature, including specialist literature. </li></ul><ul><li>Recommendations include evidence levels ( Oxford CEBM ). </li></ul><ul><li>* Wilson, R Douglas, et al. Journal Obsts & Gyn. Canada, 2003; November:138. </li></ul>
  21. 21. Where next? <ul><li>More specialist EBM/Human Genome Variation sites needed; also consumer sites (such as Decode Me) </li></ul><ul><li>Create a global, centralised, open-access test registry, governed by evidence-based standards </li></ul><ul><li>Develop technologies to ‘map’ genomic information to clinical pathways: “Evidence-Based Genomic Medicine” </li></ul><ul><li>Seamless provision of the above to EPRs (electronic patient records) </li></ul><ul><li>More genetic counsellors </li></ul>
  22. 22. Evidence Based Medicine searching: is genetics coverage sufficient? <ul><li>Thank you! </li></ul>