25 Pharmacogenetic diagnostics and therapeutic implications for genome medicine

Introduction The role of pharmacogenetic diagnostics has changed during the past decades with a more explorative role in the beginning explaining differences in drug metabolism and elimination, further looking at differences in individual drug response and safety, and nowadays developing to a therapy companion diagnostic for indications of drug therapies.

Methods With the knowledge on our pharmacogenome, also new methods for genetic diagnostics arose, and large genome analyses now became convenient, easy to handle, and relatively cheap. While in centralized countries like the United States, the development of guidelines and pharmacogenetic information in drug labels is already advanced, in Europe, the diversity of national health systems affects regulation for pharmacogenetic diagnostics.

Results Recently, a European referral was opened that should clear the question of a pretherapeutic testing of DPYD variants in therapy with fluoropyrimidines. The outcome of the referral (expected in 2020) could mean that for the first time in Europe, a pharmacogenetic test is mandatory before onset of a common drug therapy (so far, only genetic testing in rare disease therapy is mandatory).

Conclusion Genome medicine is now in the implication phase with the use of pharmacogenetic tests for drug therapy indication, for individualized dosing and for the avoidance of side effects. Depending also on national health systems, genetic tests for therapy decisions are/and will become more and more in use in realworld clinical practice.

Publication History

Article published online:
30 April 2020