Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics

Abstract

One application of personalized medicine is the tailoring of medication to the individual, so that the medication will have the highest chance of success. In order to individualize medication, one must have a complete inventory of all current pharmaceutical compounds (a detailed formulary) combined with pharmacogenetic datasets, the genetic makeup of the patient, their (medical) family history and other health-related data. For healthcare professionals to make the best use of this information, it must be visualized in a way that makes the most medically relevant data accessible for their decision-making. Similarly, to enable bioinformatics analysis of these data, it must be prepared and provided through an interface for controlled computational analysis. Due to the high degree of personal information gathered for such initiatives, privacy-sensitive implementation choices and ethical standards are paramount. The Personal Genetic Locker project provides an approach to enable the use of personal genomic data in primary care. In this paper, we provide a description of the Personal Genetic Locker project and show its utility through a use case based on open standards, which is illustrated by the 4MedBox system.

FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care?

“…Consent systems for FHH apps using locker-type systems as consent management. For example, the PGL project [ 27 ]. Implement an FHH tool that is interoperable with other (EMR) systems.…”

“…Consent systems for FHH apps using locker-type systems as consent management. For example, the PGL project [ 27 ].…”

Comment on Future trends in clinical genetic and genomic services by Borle et al.

“…The technology to screen for such predefined actionable genetic variants exists, but is not currently used as preventive tool in the more general (patient) population [ 4 ]. Additionally, genetic variants influencing the efficacy or adverse events in drug prescription have been well described, and even included in pharmacological guidelines, but widespread use to guide personalized treatment strategies and prevent adverse events is limited [ 5 ]. Finally, polygenic risk scores (PRS) for many diseases have developed from outcomes of Genome-Wide Association studies (GWAS) [ 6 ].…”

Pharmacogenomic Determinants of Interindividual Drug Response Variability: From Discovery to Implementation

“…Overkleeft et al [ 10 ] highlight another technological challenge for making personalized medicine a reality: the need to have a complete overview of the genetic make-up of the patient, the medical family history, and the drug use and other health-related data at point-of-care that comply with privacy ethical standards. They describe their Personal Genetic Locker project, which aims to implement personal genomic data effectively in primary care.…”

“…They specifically discuss commonly used drugs in primary care with available pharmacogenomics guidelines. Interestingly, they highlight the importance of development of appropriate clinical decision support systems that facilitate the use of pharmacogenomic information at the point of prescribing, as also emphasized by Overkleeft et al [ 10 ].…”