Clinical Implementation of Genetic Testing in Medicine: A US Regulatory Science Perspective.

Source

University of Florida Center for Pharmacometrics and Systems Pharmacology, Orlando, Florida.

Abstract

Heterogeneity of treatment effects in unselected patient populations has stimulated various strategic approaches to reduce variability and uncertainty and improve individualization of drug selection and dosing. The rapid growth of DNA sequencing and related technologies has ramped up progress in interpreting germline and somatic mutations and has begun to re-shape medicine especially in oncology. Over the past decade regulatory agencies realized that they have to be proactive and not reactive if personalized medicine was to become a reality. FDA, in particular, took steps to nurture the field through peer-reviewed publications, co-sponsoring public workshops and issuing guidance for industry. Two major approaches to personalized medicine were taken: 1^st , encouragement of de novo co-development of drug/genetic test combinations by industry and 2^nd , retrospective assessment of legacy genetic data for the purpose of updating drug labels. The former has been more successful in getting new targeted therapies to the marketplace with successful adoption, while the latter, as evidenced by low adoption rate of pharmacogenetic testing, has been less successful. This reflection piece makes clear that several important things need to happen to make personalized medicine more diffuse in more geographic areas and among more therapeutic specialties. The debate over clinical utility of genetic tests needs to be resolved with consensus on evidentiary standards. Physicians, as gatekeepers of prescribing medicines, need to increase their knowledge of genetics and the application of the information to patient care. An infrastructure needs to be further built to make access to genetic tests and decision-support tools available to primary practitioners and specialists outside major medical centers and metropolitan areas.
This article is protected by copyright. All rights reserved.