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

Genes, vol. 11, pp. 1443

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.

Authors 10

1. Rick Overkleeft corresponding
   Affiliation as printed

   4MedBox, 2321 JW Leiden, The Netherlands

   Coöperatie 4LifeSupport Europa u.a., 2321 JW Leiden, The Netherlands

2. Judith Tommel Aachen Health Medical and Neuropsychology Unit Institute of Psychology Faculty of Social and Behavioural Sciences

   Leiden University

   Affiliation as printed

   Health, Medical and Neuropsychology Unit, Institute of Psychology, Faculty of Social and Behavioural Sciences, Leiden University, 2333 AK Leiden, The Netherlands

3. Andrea W.M. Evers Aachen Health Medical and Neuropsychology Unit Institute of Psychology Faculty of Social and Behavioural Sciences

   Leiden University

   Affiliation as printed

   Health, Medical and Neuropsychology Unit, Institute of Psychology, Faculty of Social and Behavioural Sciences, Leiden University, 2333 AK Leiden, The Netherlands

4. Johan T. den Dunnen Aachen Departments of Human Genetics and Clinical Genetics

   Leiden University Medical Center

   Affiliation as printed

   Departments of Human Genetics and Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands

5. Marco Roos Aachen Human Genetics Department

   Leiden University Medical Center

   Affiliation as printed

   Human Genetics Department, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands

6. Marie-José F. Hoefmans
   Affiliation as printed

   Schluss, 1013 KS Amsterdam, The Netherlands

7. Walter E. Schrader
   Affiliation as printed

   General Practitioner, 2313 AX Leiden, The Netherlands

8. Jesse Joachim Swen Aachen Department of Clinical Pharmacy and Toxicology

   Leiden University Medical Center

   Affiliation as printed

   Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands

9. Mattijs Everard Numans Aachen Department of Public Health and Primary Care (PHEG)

   Leiden University · Leiden University Medical Center

   Affiliation as printed

   Department of Public Health and Primary Care (PHEG), Leiden University Medical Centre, 2333 ZA Leiden, The Netherlands

10. Elisa J. F. Houwink Aachen Department of Public Health and Primary Care (PHEG)

    Leiden University · Leiden University Medical Center

    Affiliation as printed

    Department of Public Health and Primary Care (PHEG), Leiden University Medical Centre, 2333 ZA Leiden, The Netherlands

    National eHealth Living Lab (NELL), 2333 ZD Leiden, The Netherlands