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Evidence Based Medicine searching: is genetics coverage sufficient

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Title: Evidence Based Medicine searching: is genetics coverage sufficient


1
Evidence Based Medicine searchingis genetics
coverage sufficient?
  • Terence M Harrison
  • Clinical Librarian, Health Sciences Library,
    Royal Melbourne Hospital

2
EBM/Human Genome Variation towards personalised
health care
  • the evidence base for many genetic
    technologies, patient management interventions
    and services is very weakcancer services across
    the world are being developed on the basis of
    expert consensus, not formal syntheses of
    rigorous evidence.
  • The Challenge of developing
    evidence-based genetics health care in practice,
    by Brenda J Wilson. Familial Cancer, 2006
    5(55-59).

3
EBM/Human Genome Variation identifying the
interface
  • According to Bracken there is a serious need for
    electronic evidence-based systematic reviews for
    genomic epidemiology
  • To identify publication bias
  • Provide study replication
  • Allow for sub-group analyses
  • Enable meta-analyses of data
  • According to Ionnidis, possibly 70 of published
    gene association studies have unreliable results.
  • 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.
  • Genetic Associations false or true? by J
    P A Ionnidis. Trends Molecular Medicine,
    20039135-8.

4
The EBM/Human Genome Variation at the crossroads
  • A wealth of Genetics and Human Genome Varaiation
    resources exist
  • Similarly, there is a wealth of clinical evidence
    sources
  • But what of the crossover?
  • And are there other ways of searching this
    interface?

5
EBM/Human Genome Variation tools
  • A handful of dedicated search engines that
    provide an interface between human genetic
    content and EBM
  • PubMed Clinical Queries (Medical Genetics)
  • National Library for Health (Genetic Conditions)
  • TRIP (Genetics)
  • EBM Online (BMJ) Genetics
  • EBM Sources (Genetics subsection) University of
    Laval (France)

6
EBM/Human Genome Variation other sources
  • Resources below provide for searching on
    Variation (Genetics) and condition
  • Cochrane
  • PubMed Clinical Queries (EBM filtered search)

7
PubMed Clinical Queries Medical genetics search
engine
  • An EBM search facility that provides for
    searching by
  • Diagnosis
  • Differential Diagnosis
  • Clinical Description
  • Management
  • Genetic Counselling
  • Molecular Genetics
  • Genetic Testing
  • Also by Therapy, Diagnosis, Aetiology,
    Prognosis.
  • URL http//www.ncbi.nlm.nih.gov/entrez/query/stat
    ic/clinical.shtmlreviews

8
PubMed Clinical Queries Medical genetics search
engine
  • Example of a PubMed CQ (Medical genetics)
    search string (hidden) on colorectal cancer
  • ("colorectal cancer") AND ((Diagnosis AND
    genetics) OR (Differential DiagnosisMeSH OR
    Differential DiagnosisText Word AND genetics)
    OR (Natural History OR Mortality OR Phenotype OR
    Prevalence OR Penetrance AND genetics) OR
    (therapySubheading OR treatmentText Word OR
    treatment outcome OR investigational therapies
    AND genetics) OR (Genetic Counseling OR
    Inheritance pattern AND genetics) OR (Medical
    Genetics OR genotype OR geneticsSubheading 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))

9
National Library for Health Genetic Conditions
  • Also known as Genepool, the NLH (National Library
    for Health) Genetic Conditions specialist library
    is run by the National Genetics Education and
    Development Centre
  • URL http//www.library.nhs.uk/genepool/
  • Brings together information on genetics and
    genetic conditions, from a variety of sources,
    including
  • Clinical Guidelines
  • Systematic Reviews
  • Best practice articles
  • Patient information leaflets

10
National Library for Health Genetic Conditions
  • Results
  • Guidelines/Pathways
  • Evidence
  • Reference
  • Education/CPD
  • Patient info

11
National Library for Health Genetic Conditions
  • Evidence synopses
  • Guidelines produced by genetics professional
    body/ government /health authority
  • Clinical evidence
  • Guidelines Finder
  • NICE
  • SIGN
  • Prodigy
  • Effective Health Care Bulletin on the
    effectiveness of health service interventions
  • National Guideline Clearing House (USA)
  • GHR (Genetics Home Reference)

12
National Library for Health Genetic Conditions
  • Systematic Reviews
  • Cochrane Library
  • CATS ( Critical Appraised Topics)
  • POEMs ( Patient-Oriented Evidence that Matters)
  • Best BETS ( Best Evidence Topics)
  • DARE
  • Bandolier
  • Medline /PubMed (Using filter to retrieve
    systematic reviews only)
  • CINAHL (Using filter to retrieve systematic
    reviews only)

13
National Library for Health Genetic Conditions
  • Primary Literature
  • The Cochrane Central Register of Controlled
    Trails
  • Medline (normally using Clinical Queries search
    filter)
  • Health Technology Assessment database
  • Health Care Needs Assessment
  • Genisys (Edinburgh Genetics Unit)

14
National Library for Health Genetic Conditions
  • Other sources
  • Gateways to evidence based resources
  • OMNI
  • Netting the Evidence
  • Web search engines
  • National Library for Health
  • SUMsearch
  • Journals
  • Nature
  • Science
  • The Lancet
  • New England Journal of Medicine
  • New Scientist
  • The Scientist

15
Trip (Turning Research Into Practice) Genetics
section
  • URL http//www.tripdatabase.com/genetics/23647.ht
    ml
  • Journals indexed
  • Nature Genetics
  • Nature Reviews. Genetics
  • Journal of Medical Genetics
  • Trends in Genetics
  • Annual Review of Genetics
  • American Journal of Human Genetics
  • American Journal of Medical Genetics
  • Clinical Genetics
  • BMC Medical Genetics
  • European Journal of Human Genetics
  • Cytogenetics

16
EBM Online (BMJ) - Genetics
  • URL http//ebm.bmj.com/cgi/collection/genetics?no
    tjournalebmedpage214
  • 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

17
EBM Sources (Genetics subsection) University of
Laval (Canadian)
  • URL http//132.203.128.28/medecine/repertoire/rep
    ertoire.asp
  • Over 114 evidence sites indexed
  • All evidence based
  • Includes a Genetics subsection

18
EBM/Human Genome Variation searching via MeSH
  • MeSH term Variation (Genetics)
  • Add term to genetic condition (e.g.
    homocystinuria) in search string
  • EBM search sources include
  • PubMed Clinical Queries (filtered to systematics
    reviews, RCTs, etc)
  • Cochrane (as above)
  • Note you can also search by IHOP (Information
    Hyperlinked Over Proteins) then compare results
    with results from a PubMed CQ search

19
Genomic-based guidelines
  • Examples at National Metabolic Biochemistry
    Network (UK, NHS) http//www.metbio.net/
  • MetBio has an assay directory to source
    laboratory testing services in the UK for
    specialist metabolites and enzymes for inherited
    metabolic disorders.
  • Currently around a dozen guidelines available
    (not evidence based) at MetBio.

20
Example of a Genomic guideline
  • THE USE OF FOLIC ACID FOR THE PREVENTION OF
    NEURAL TUBE DEFECTS AND OTHER CONGENITAL
    ANOMALIES
  • A systematic review of literature, including
    specialist literature.
  • Recommendations include evidence levels (Oxford
    CEBM).
  • Wilson, R Douglas, et al. Journal Obsts Gyn.
    Canada, 2003 November138.

21
Where next?
  • More specialist EBM/Human Genome Variation sites
    needed also consumer sites (such as Decode Me)
  • Create a global, centralised, open-access test
    registry, governed by evidence-based standards
  • Develop technologies to map genomic information
    to clinical pathways Evidence-Based Genomic
    Medicine
  • Seamless provision of the above to EPRs
    (electronic patient records)
  • More genetic counsellors

22
Evidence Based Medicine searchingis genetics
coverage sufficient?
  • Thank you!
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