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ASHG TV 2016

Preemptive Genotyping Approach

The International Reference Center for Pharmacogenetics at the Department of Clinical Chemistry, Erasmus MC Rotterdam

Interindividual variation in drug metabolism is a factor affecting successful drug therapy. Adverse drug reactions are responsible for 5-7% of hospitalizations each year, and there is thus a need to personalize drug therapy. With the knowledge and tools available today, we can achieve this at reasonable costs. With over 5,000 articles per year currently being published on genomic markers to guide drug therapy, there is a huge potential. However, some tests are readily accepted by the clinic, but others are not. Surprisingly, these acceptances differ from country to country, and from hospital to hospital. It appears that it is not as much the suggested lack of scientific evidence, but rather other factors that have an impact on clinical implementation, such as education and competition with existing protocols. Our 10 year experience in implementing pharmacogenetics in the Netherlands in clinical diagnostics will be illustrated, covering the value of clinical evidence, education, availability of testing, laboratory and clinical guidelines, quality, feedback from clinicians and patients, reporting, financial and ethical aspects. At Erasmus MC, we currently provide DNA passports for medication, which fits in the trend of a pre-emptive genotyping approach. However, these efforts would not be so successful if not for the early development of a national clinical support system for pharmacists. This system contains evidence-based genotype dependent dosing guidelines for over 80 drugs. So with your DNA passport, you can visit any pharmacy in the Netherlands to obtain medication adjusted on genomic profile. Current challenge is to develop a broader decision support tool, incorporating these dosing advices and coupling directly to an individual’s DNA information in a way that it ensures optimal access to this information for health care provider as well as individuals.

www.erasmusmc.nl

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