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Review
.2021 Feb;21(1):1-7.
doi: 10.1038/s41397-020-00182-9. Epub 2020 Aug 25.

Pharmacogenomics cascade testing (PhaCT): a novel approach for preemptive pharmacogenomics testing to optimize medication therapy

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Review

Pharmacogenomics cascade testing (PhaCT): a novel approach for preemptive pharmacogenomics testing to optimize medication therapy

Don Roosan et al. Pharmacogenomics J.2021 Feb.

Erratum in

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.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1. Current typical workflow of a clinical pharmacogenomics (PGx) test from ordering to reviewing.
First, a PGx test is ordered by the clinician. Second, the laboratory receives the physician’s order and sends a test kit to the patient to collect the patient’s DNA sample. The laboratory processes the patient’s sample after collection, and the raw genotyping data is processed. Third, the raw genotyping results are converted into a human-readable format and sent to the prescriber via electronic health records (EHR), email, or fax. Lastly, the results are shared with the patient by the physician.
Fig. 2
Fig. 2. A proposed integrative model for operationalizing pharmacogenomics data sharing and pharmacogenomic cascade testing (PhaCT).
In this model, the ordering of the test, the collection of the patient’s sample, and the translation of genomics data into clinically actionable results will remain the same. However, once the results are finalized, they will be sent to an ancillary patient-managed genomic system (PMGS). Within the PMGS system, patients will have access to the results and will be able to share results with other clinicians or family members. Lastly, the PMGS could also have the ability to send the results to the electronic health record (EHR), which could then be sent to the prescribing physician.
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References

    1. Caudle KE, Klein TE, Hoffman JM, Müller DJ, Whirl-Carrillo M, Gong L, et al. Incorporation of pharmacogenomics into routine clinical practice: the clinical pharmacogenetics implementation consortium (CPIC) guideline development process. Curr Drug Metab. 2014;15:209–17. doi: 10.2174/1389200215666140130124910. - DOI - PMC - PubMed
    1. Cecchin E, Roncato RJ Guchelaar H, Toffoli G, Consortium for the UP. Ubiquitous Pharmacogenomics (U-PGx): the time for implementation is now. An Horizon2020 program to drive pharmacogenomics into clinical practice. 2017.https://www.ingentaconnect.com/contentone/ben/cpb/2017/00000018/00000003... - PubMed
    1. Weitzel KW, Alexander M, Bernhardt BA, Calman N, Carey DJ, Cavallari LH, et al. The IGNITE network: a model for genomic medicine implementation and research. BMC Med Genomics. 2016;9:1. doi: 10.1186/s12920-015-0162-5. - DOI - PMC - PubMed
    1. Patel HN, Ursan ID, Zueger PM, Cavallari LH, Pickard AS. Stakeholder views on pharmacogenomic testing. Pharmacother J Hum Pharmacol Drug Ther. 2014;34:151–65. doi: 10.1002/phar.1364. - DOI - PubMed
    1. Haga SB, LaPointe NMA. The potential impact of pharmacogenetic testing on medication adherence. Pharmacogenomics J. 2013;13:481–3. doi: 10.1038/tpj.2013.33. - DOI - PMC - PubMed

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