Clinical utility gene card for: Trimethylaminuria

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European Journal of Human Genetics (2012) 20, doi:10.1038/ejhg.2011.214; published online 30 November 2011

Elizabeth A Shephard*1, Eileen P Treacy*2,3 and Ian R Phillips*4

CLINICAL UTILITY GENE CARD

This clinical utility gene card includes the following information:

• DISEASE CHARACTERISTICS, i.e., Name of the disease (synonyms), OMIM# of the disease, Name of the analysed genes or DNA/chromosome segments, OMIM# of the gene(s), Mutational spectrum, Analytical methods, Analytical validation, Estimated frequency of the disease in Germany (incidence at birth (‘birth prevalence’) or population prevalence), If applicable, prevalence in the ethnic group of investigated
  person, and Diagnostic setting.
• TEST CHARACTERISTICS,
  1. Analytical sensitivity
     (proportion of positive tests if the genotype is present),
  2. Analytical specificity
     (proportion of negative tests if the genotype is not present)
  3. Clinical sensitivity
     (proportion of positive tests if the disease is present)
  4. Clinical specificity
     (proportion of negative tests if the disease is not present)
  5. Positive clinical predictive value
     (life-time risk to develop the disease if the test is positive)
  6. Negative clinical predictive value
     (probability not to develop the disease if the test is negative)
• CLINICAL UTILITY
  1. (Differential) diagnosis: The tested person is clinically affected
     • Can a diagnosis be made other than through a genetic test?
     • Describe the burden of alternative diagnostic methods to the
       patient
     • How is the cost effectiveness of alternative diagnostic methods
       to be judged?
     • Will disease management be influenced by the result of a
       genetic test?
  2. Predictive setting: The tested person is clinically unaffected but
     carries an increased risk based on family history
  3. Will the result of a genetic test influence lifestyle and prevention?
  Which options in view of lifestyle and prevention does a person at-risk have if no genetic test has been done (please describe)?
• Genetic risk assessment in family members of a diseased person
• Does the result of a genetic test resolve the genetic situation in
  that family?
• Can a genetic test in the index patient save genetic or other tests in family members?
• Does a positive genetic test result in the index patient enable a predictive test in a family member?
• Prenatal diagnosis
• Does a positive genetic test result in the index patient enable a
  prenatal diagnostic?

IF APPLICABLE, FURTHER CONSEQUENCES OF TESTING

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Also see Orphanet listing of Trimethylaminuria.

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A EURORDIS and
NORD Member Organization