Pharmacogenomics cascade testing (PhaCT): a novel approach for preemptive pharmacogenomics testing to optimize medication therapy
Open Access
- 25 August 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in The Pharmacogenomics Journal
- Vol. 21 (1), 1-7
- https://doi.org/10.1038/s41397-020-00182-9
Abstract
The implementation of pharmacogenomics (PGx) has come a long way since the dawn of utilizing pharmacogenomic data in clinical patient care. However, the potential benefits of sharing PGx results have yet to be explored. In this paper, we explore the willingness of patients to share PGx results, as well as the inclusion of family medication history in identifying potential family members for pharmacogenomics cascade testing (PhaCT). The genetic similarities in families allow for identifying potential gene variants prior to official preemptive testing. Once a candidate patient is determined, PhaCT can be initiated. PhaCT recognizes that further cascade testing throughout a family can serve to improve precision medicine. In order to make PhaCT feasible, we propose a novel shareable HIPAA-compliant informatics platform that will enable patients to manage not only their own test results and medications but also those of their family members. The informatics platform will be an external genomics system with capabilities to integrate with patients’ electronic health records. Patients will be given the tools to provide information to and work with clinicians in identifying family members for PhaCT through this platform. Offering patients the tools to share PGx results with their family members for preemptive testing could be the key to empowering patients. Clinicians can utilize PhaCT to potentially improve medication adherence, which may consequently help to distribute the burden of health management between patients, family members, providers, and payers.Keywords
This publication has 42 references indexed in Scilit:
- Progress towards the integration of pharmacogenomics in practiceHuman Genetics, 2014
- Preferences for results delivery from exome sequencing/genome sequencingGenetics in Medicine, 2014
- Adoption of a clinical pharmacogenomics implementation program during outpatient care–initial results of the University of Chicago “1,200 Patients Project”Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2014
- Stakeholder Views on Pharmacogenomic TestingPharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 2013
- The potential impact of pharmacogenetic testing on medication adherenceThe Pharmacogenomics Journal, 2013
- Ethical, Legal, and Counseling Challenges Surrounding the Return of Genetic Results in OncologyJournal of Clinical Oncology, 2013
- Shared Decision Making — The Pinnacle of Patient-Centered CareThe New England Journal of Medicine, 2012
- Consideration of patient preferences and challenges in storage and access of pharmacogenetic test resultsGenetics in Medicine, 2011
- Ethical and Legal Implications of Cancer Genetic Testing: Do Physicians Have a Duty to Warn Patients' Relatives About Possible Genetic Risks?Journal of Oncology Practice, 2008
- Cascade testing in familial hypercholesterolaemia: how should family members be contacted?European Journal of Human Genetics, 2005