The application of pharmacogenomics in first line patient care has great potential, but also raises concerns. The potential, the interests of stakeholders and the objections are identified in discussions with experts, doctors, pharmacists, health insurers and representatives of the Ministry of Public Health.

For at least 25% of all medicines which are prescribed by a doctor, the effectivity is subject to variations in genes. By taking the genetic characteristics of a patient into account, especially if in primary care, this can lead to more effective treatment with fewer side effects. For variations in 13 genes that are associated with more than 80 drugs, the Dutch Pharmacogenetics Working Group has issued guidelines ( With this, a pharmacist can advise a doctor to request a genetic test in cases where a patient has suffered from severe side effects and/or reduced performance of any of these medications. The results thereof can be processed in the electronic patient record (EPR), and is useful for life. So what is the objective to make a pharmacogenetic profile from everyone, as nearly all will benefit from this?


With increasing knowledge of the human genome also the fear of this knowledge has increased. Patients increasingly require explanation of the purpose of certain tests and whether their health insurance will cover the costs. With genetic testing some patients fear to hear about an increased risk of certain, possibly incurable, diseases. A related concern is that insurers will use this information to increase the premium [1]. So far, variations in pharmacogenetically important genes have no known effect on the occurrence of diseases. Also, the structure to ensure privacy already exist within the EPR: medical data such as cholesterol levels and blood pressure are not shared with the insurer. Our research shows the concerns of the healthcare providers are the biggest hurdle at this moment. Healthcare providers are generally not convinced that medication adjustment based on the genetic profile will lead to a more effective treatment. Moreover, often the healthcare provider does not know what to do with genetic results because KNMP opinions are only visible for pharmacists. Training and better cooperation between pharmacists and GPs is necessary to remove this barrier. In addition to the cost of a genetic test, the healthcare provider finds it inconvenient to wait for the results of the pharmacogenetic test before prescribing a treatment and therefore still prefers the trial and error / decision tree approach. Interestingly, most healthcare providers indicate that they will include genetic information in their decision process to prescribe medication, if this is already known.


A major obstacle to request a genetic test is whether or not the insurer reimburses the costs. Basically all relevant tests are compensated, so a DNA test will be reimbursed when prescribing a drug for which a pharmacogenetic advice exists. This is different for a complete pharmacogenetic profile, from which most information is irrelevant to the specific drug that is considered at the time. This is unfortunate because the costs of genetic testing are often dependent on the number of patients being tested, as well as the number of variants which is looked at simultaneously. In general, the price for determining a single genetic variant is around € 50, while a complete pharmacogenetic profile is available for € 300. It will therefore be more cost effective to determine all pharmacogenetic variations for each patient in case of a preventive/proactive screening approach. Proactively screening patients and recording the results in the EPD will contribute to the quality of care and on longer term will reduce treatment costs. But patients are less likely to be convinced to opt for a DNA test that costs money but will not apparently give a direct health benefit. It is therefore essential that a pharmacist takes the time to explain the costs versus benefits of pharmacogenetic screening to the patient. Minister Schippers (Ministry of Public Health) has made a step in the right direction by making € 91 million available in the coming years for research to improve efficiency of the current repertoire of drugs, in particular focusing on personalized medicine. In addition, € 10 million will become available to improve diagnostics.


Currently there are several ongoing studies, supported by health insurers, to investigate the feasibility of pharmacogenetic screening in the Netherlands. In the United States, it has been shown that the implementation of pharmacogenetic testing in healthcare results in a cost improvement [2,3]. Especially for anticoagulants it has been demonstrated that medication prescription based on CYP2C19 genotype increases the effectiveness and the overall costs [4]. In the Netherlands, several studies have indicated that the genetic profile can account for the response to a particular drug and also can predict it [5]. In short, if the genetic profile of an individual is known, he or she can directly get the right medication in the correct dosage. By this, (serious) adverse events will be limited so that the total costs of health care are going down. It is important that the quality of genetic testing is guaranteed, turnaround time is short and costs are low. This can be accomplished by providing a continuous flow of tests, and by use of specific trained personnel in an accredited environment. In addition, a thorough explanation to patients is necessary. The patient-doctor relationship is often personal, whereas the patient often sees the relationship with the pharmacist as more opportunistic. Here is an opportunity for the pharmacist to present themselves as a true healthcare provider towards the patient.


In the Netherlands, sixteen hospitals are members of the Network Clinical Pharmacogenetics Netherlands (pgx net). This network was created to stimulate the exchange of knowledge and experience between providers of pharmacogenetic analyses in the Netherlands, to monitor the quality of the analyses and to harmonize reporting. These laboratories also participate in proficiency testing to ensure consistent quality. In a larger context within Europe, the Netherlands plays a leading role: prof. Dr. Ron van Schaik from the Erasmus MC – in his role as president of the European Society of Pharmacogenomics and Personalized Therapy (Espt 400 members) and President of the European Pharmacogenetics Implementation Consortium (eu-pic, with a core of 20 laboratories) – is a great advocate of quality assurance and standardization for pharmacogenetic tests. For all laboratories that wish to offer pharmacogenetic tests, it is essential to do this in close consultation with the pgx net, Espt and eu-pic to ensure quality and reliability of results.

This article is written by Tahar van der Straaten, Irene Pegiou and Danny Duijsings and published (in Dutch) in Pharmaceutisch Weekblad 14 – April 7th, 2017.


  1. Bank PC, Swen JJ, Guchelaar HJ. A nationwide survey of pharmacists’ perception of pharmacogenetics in the context of a clinical decision support system containing pharmacogenetics dosing recommendations. Pharmacogenomics. 2017 Feb;18(3):215-25.
  2. O’Donnell PH, Bush A, Spitz J, et al. The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics. Clin Pharmacol Ther. 2012 Oct;92(4):446-9.
  3. Rasmussen-Torvik LJ, Stallings SC, Gordon AS, et al. Design and anticipated outcomes of the eMERGEPGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clin Pharmacol Ther. 2014 Oct;96(4):482-9.
  4. Johnson SG, Gruntowicz D, Chua T, Morlock RJ. Financial analysis of CYP2C19 genotyping in patients receiving dual antiplatelet therapy following acute coronary syndrome and percutaneous coronary intervention. J Manag Care Spec Pharm. 2015 Jul;21(7):552-7.
  5. Deiman BA, Tonino PA, Kouhestani K, et al. Reduced number of cardiovascular events and increased cost-effectiveness by genotype-guided antiplatelet therapy in patients undergoing percutaneous coronary interventions in the Netherlands. Neth Heart J. 2016 Oct;24(10):589-99.

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