Description

This Action List flags patients across the CBDR population who do not have genetic testing data recorded. Genetic testing results are a key component of a complete patient profile and are increasingly important for treatment decision-making, particularly with gene therapy eligibility.

Why This Matters

  • Genetic mutation data supports inhibitor risk stratification and guides treatment selection
  • Gene therapy eligibility screening requires confirmed genetic diagnosis
  • CDA DRD reviews for novel therapies reference genotype data when assessing real-world evidence completeness
  • Complete genetic records strengthen the national registry's value for research and international benchmarking
  • Carrier testing and family cascade screening depend on index patient genotype data

Remediation Steps

  1. Check existing records: Review the patient's clinic chart, genetics referral records, and any prior lab reports for existing genetic testing results that may not have been entered in CBDR.
  2. Enter existing results: If genetic testing has been completed but not recorded, enter the mutation type, gene (F8 or F9), and testing date in the CBDR Genetics module.
  3. Initiate referral if untested: If the patient has not been genetically tested, discuss with the treating physician whether a referral for genetic testing is clinically appropriate.
  4. Document reason if testing not applicable: For patients where genetic testing is not feasible or clinically indicated (e.g., acquired hemophilia), document this in the patient notes.
  5. Follow up on pending tests: If a referral has been made, set a reminder to enter the results once available. The patient will remain on this action list until genetic data is recorded.