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Evidence Direct: Genetics - EBM Resources

A. Education

  • Wiki Genetics: click here
  • Understanding Genetics (Genetic Alliance) - click here
  • Searching OMIM (see below) - click here
  • Genetics Home Reference: click here
  • Talking genetics glossary: click here
  • National Genetics Education & Development Centre (NHS): click here
  • Centre for Genetics Education (NSW): click here
  • National Coalition for Health Professional Education in Genetics: click here
  • DNA from the beginning: click here
  • DNA Interactive: click here
  • DNA workshop: click here
  • HGP education kit: click here
  • Gene Gateway Workbook: click here
  • Dolan DNA Learning Center: click here
  • PHG Foundation (lots of educational resources): click here

B. Tools

  • Internet manager and clinical practice tools: click here
  • Genetic & rare conditions: click here
  • Gene Atlas: click here

C. Organisations

  • Genomic Disorders Research Centre: click here
  • Human Genome Variation Society: click here
  • Human Variome Project: click here
  • BioGrid: click here

D. Literature

  • Weighing in on genetic testing & research: click here
  • From evidence-based medicine to genomic medicine: click here
  • Evidence based medicine in practice: lessons from a Scottish clinical genetics project: click here
  • The challenge of developing evidence-based genetics health care in practice: click here
  • Genomic Epidemiology of Complex Disease: The Need for an Electronic Evidence-based Approach to Research Synthesis: click here
  • Twenty questions in genetic medicine—an assessment of World Wide Web databases for genetics information at the point of care; Genet Med 2008:10(9):659 – 667.

E. Three steps to Genetics/EBM searching

  1. Find the right clinical terms: go to the MeSH database. If terms cannot be mapped against MeSH (Medical Subject Headings) use the nearest equivalent
  2. Combine terms (MeSH or equivalent) using (AND, OR or NOT)
  3. Use filters for PubMed searches, as needed (see bottom of page)
  4. Conduct searches in all of the following databases:
DatabaseURL
GoPubMedhttp://www.gopubmed.org/ GoPubMed
EBM Online (BMJ)http://ebm.bmj.com/search.dtl
HuGE Navigatorhttp://www.hugenavigator.net/HuGENavigator/home.do
Cochrane Collaborationhttp://www.mrw.interscience.wiley.com/cochrane/cochrane_search_fs.html

Note: Add term(s) to "variation (Genetics)" or "Genetics, Medical"

Cochrane
GARDhttp://rarediseases.info.nih.gov/GARD/Default.aspx?PageID=4
NHS Evidence http://www.evidence.nhs.uk/
OMIMhttp://www.ncbi.nlm.nih.gov/sites/entrez?db=omim
PubMed Clinical Queries

http://www.ncbi.nlm.nih.gov/pubmed/clinical

Note: In the search box, add term(s) to "variation (Genetics) [MESH]" or "Genetics, Medical [MESH]'

 
 

F. Videos
 
 
1. An (entertaining) primer on genetics:
 

2. An introduction to human genetic variations:

Medical Genetics Search Filters

CategoryPubMed Equivalent
Diagnosis (Diagnosis AND Genetics)
Differential Diagnosis (Differential Diagnosis[MeSH] OR Differential Diagnosis[Text Word] AND Genetics)
Clinical Description (Natural History OR Mortality OR Phenotype OR Prevalence OR Penetrance AND Genetics)
Management (therapy[Subheading] OR treatment[Text Word] OR treatment outcome OR investigational therapies AND Genetics)
Genetic Counseling (Genetic Counseling OR Inheritance pattern AND genetics)
Molecular Genetics (Medical Genetics OR genotype OR genetics[Subheading] AND genetics)
Genetic Testing (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)
All ((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))

(Note: these genetics searches were developed by staff of GeneReviews: Genetic Disease Online Reviews at GeneTests, University of Washington, Seattle.)

 



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