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!