Recommendations for pharmacogenetic testing in clinical practice guidelines in the US

Area of Science:

• Pharmacogenomics
• Clinical Practice Guidelines
• Personalized Medicine

Background:

• Pharmacogenetic testing identifies patients who may benefit from personalized drug therapy.
• Clinical adoption of pharmacogenetic testing remains limited despite its potential.
• Clinical practice guidelines recommend biomarker tests with demonstrated clinical utility, improving patient outcomes.

Purpose of the Study:

• To review the current status of pharmacogenetic testing recommendations in US clinical practice guidelines.
• To assess the consistency of these recommendations across different organizations and guidelines.

Main Methods:

• A narrative review of clinical practice guidelines was conducted.
• Guidelines were assessed for recommendations on 21 gene-drug pairs with established associations, deemed clinically actionable by CPIC.
• Consistency of recommendations within and between organizations was evaluated.

Main Results:

• Few clinical practice guidelines included pharmacogenetic testing recommendations.
• Consistent recommendations were found for HLA-B*57:01 (abacavir) and G6PD (rasburicase).
• Inconsistent recommendations were observed for CYP2C19-clopidogrel, CYP2D6-codeine/tramadol, CYP2B6-efavirenz, TPMT-thiopurines, and NUDT15-thiopurines, both within and between organizations.

Conclusions:

• Pharmacogenetic testing recommendations in US clinical practice guidelines are sparse and inconsistent.
• A standardized approach to evaluating clinical utility could enhance guideline inclusion and consistency.
• Improved guideline consistency may increase the clinical use of pharmacogenetic testing, benefiting patients and society.