HC Professionals

The scientific background

The scientific background to where regulatory guidelines stand is three-fold: Pharmacogenetic testing has its origin in international, evidence-based genotyping laboratories – the CLIO laboratories. In cooperation with The American Association of Pathology these laboratories set “the golden standard” for what, where at the genome and how precisely the lab technicians must genotype to find a correct answer. CLIO and Coriell laboratories also deliver reference cell-lines used for lab validations all over the world including to Genetelligence.

Data from these laboratories are the basis for the Pharmacogenomics Knowledge Base (PharmGKB), which is a knowledge resource, that encompasses clinical information, including clinical guidelines and drug labels, potentially clinically actionable gene-drug associations, and genotype-phenotype relationships.

The knowledge from PharmGKB is used by the Clinical Pharmacogenetics Implementation Consortium (CPIC), which is an international consortium of experts, and a dedicated staff at Stanford Univesity, USA, who are interested in facilitating the use of pharmacogenetic tests for patient care.

CPIC publishes freely available, peer-reviewed, evidence-based, updatable, and detailed gene-drug clinical practice guidelines following standardized formats

  • Systematic grading of evidence and clinical recommendations using standardized terminology.
  • Peer-reviewed scientific findings
  • Published in a leading journal (in partnership with Clinical Pharmacology and Therapeutics with simultaneous posting to www.cpicpgx.org)

U.S. Food and Drug Administration, and the European Medicines Agency use the CPIC guidelines in their recommendations of drugs in relation to pharmacogenetic testing. The Authorities publish lists of medications with “actionable guidelines”, with pharmacogenomic information e.g., specific actions to be taken based on the biomarker information.

Personal Medicine Profile follow the guidelines

Personal Medicine Profile™ is an easy-to-use decision support service based on pharmacogenomic analyses to help select medical treatment for each person. The service aims to make a bridge between advanced science and technology to clinical practice.

Personal Medicine Profile includes recommendations based on CPIC guidelines of more than 200 of the most commonly used medications within cardiology, pain relief, gastroenterology, rheumatism, psychiatry, multiple disease, polypharmacy and cancer.

Data: Information about the medicines comes from the authorities in the EU and USA (EMA and FDA). The genotype sequencing is performed under EU regulatory demands in the state-owned laboratory (Statens Serum Institut) in Copenhagen where Genetelligence has got a location. The data from genotyping are transmitted to our proprietary laboratory for bioinformatics which have incoorporated the CLIO, PharmGKB, CPIC and the EU and US authorities guidelines in the pharmacogenetic reports for each person.

When new medicinal information and pharmacogenomic guidelines are published from CPIC and the American Associassion of Pathology all patient reports are continuously being updated online. As an information CPIC and the European Dutch Pharmacogenomic Working Group have aligned guidelines and both parties are used by the authorities for claims on medical labels.

Disclosure: All the recommendations are based on personal pharmacogenomic data and focus on active pharmaceutical ingredients. The service is  free of any influence from the pharmaceutical industry. 

Scientific background

Scientific background

Practice of medicine

The practice of medicine has always been about treating each patient individually, and clinicians have long observed that patients with the same diagnosis may respond differently to medication. Developments in science and in technology now have made it possible to stratify medical intervention using decision support tools to predict which patient will benefit from a standard treatment and which patient will need adjustment to get a relief.

The science of Pharmacogenomics was coined in the 1950s and combines pharmacology and genomics capturing the idea to individualize and improve medical treatment.


The term pharmacogenomics is used to describe that multiple variants across the genome, that can differ across populations may affect drug response.

The Clinical Pharmacogenetics Implementation Consortium (CPIC) creates and curates, and poste freely available, peer-reviewed, evidence-based, updatable, and detailed gene-drug clinical practice guidelines. A standard set of phenotypes is adopted:

Poor metabolizer (two loss-of-function alleles), Intermediate metabolizer (one loss-of-function allele), Ultrarapid metabolizers(gain-of-function alleles or gene duplications) (Roden et al. 2019, Lancet 394: 521-32)

Personal Medicine Profile capture genotypes that reflects current update on standards from CPIC: Poor, Intermediate, Normal, Rapid and Ultrarapid.

Estimated percentage of non-responders to a certain drug treatment














Source: Brian B. Spear. Mango Heath-Chiozzi. Jeffery Huff. “Clinical Trends in Molecular Medicine” Volume 7, issue 5, 1. May 2001, pages 201-204

Clinical utility – a few examples

Fluoropyrimidines are frequently prescribed anti-cancer drugs. Polymorphism in the fluoropyrimidine-metabolizing enzyme DPYD (Dihydropyrimidine Dehydrogenase ) is strongly associated with severe and life-threatening toxicity.

Based on several studies investigating the polymorphism of the fluoropyrimidine-metabolizing enzyme DPD, EMA’s safety committee (PRAC) has recommended that patients should be tested for the lack of the enzyme DPD before starting cancer treatment with medicines containing fluorouracil given by injection or infusion (drip) and the related medicines capecitabine and tegafur, which are converted to fluorouracil in the body.

Another example where pharmacogenomics is used is with treatment of clopidogrel – a P2Y12 receptor blocker . Clopidogrel requires metabolism via the CYP450 pathway to the active metabolite in order to exert anti-platelet effect. Patients carrying CYP2C19 loss-of-function alleles have reduced capacity for clopidogrel bioactivation, impaired platelet inhibition and a significantly higher risk of major adverse cardiovascular events (Klein et al. 2019. Arterioscler Thromb Vasc Biol. 2019;39:647-652).

Based on pharmacogenomic information, FDA – The U.S. Food and Drug Administration – has added a “boxed warning” to the regulatory label for Clopidogrel

Pharmacogenomic testing

A questionanaire survey among clinicians showed that the general acceptance of “the need for pharmacogenomic testing” and “the belief that there is a need for pharmacogenomic testing” ranges from 97.6%-84.3%. However, at the same time, when asking clinicians about their knowledge or readiness to interpret the test results, only 10.3% felt sufficiently informed and 96.5-88.8% indicated that they wanted more training (Stanek et al. 2012. Adoption of Pharmacogenomic testing by US phycisians: result of a nationwide survey. Clin Pharmacol. Ther. 2012; 91(3):450-8).

Hence, there is need for further education, information and implementation in the clinical setting of pharmacogenomic testing.

60.3% change in therapy
13.2% dose adjustment
4.4% discontinuation of a drug
22.1% increased monitorering

Pharmacogenetic testing offered in community pharmacy
100 participants
Average age 56.6 years old

Papastergiou et al. 2017. The Innovative Canadian Pharmacogenomic Screening Initiative in Community Pharmacy (ICANPIC) study. Journal of the American Pharmacists Association 57 (2017) 624-629

Looking into the future

Moving forward and looking into the future, pharmacogenetic approaches will be a part of the processes from discovery to a drug’s post-marketing .

Genetic factors affecting drug metabolism, transporters and other pharmacokinetic and -dynamic parameters can be studied in vitro and in vivo prior to initiation of human studies. Such findings may be incorporated in early-phase human design studies.

This may improve efficiency and cost-effectiveness (e.g. by reducing size and length of clinical trials, permit earlier arrival at developmental decisions and increase the post-approval patent-protection period) of drug development (Burt and Dhillon 2013. Pharmacogenomics in early-phase clinical development. Pharmacogenomics. 2013 July ; 14(9): 1085-1097).

Laboratory studies

Cell or animal studies test to see if the new treatment will be safe and will work on people

Phase I

Studies the safety of medication and treatment on people.

Phase II

Studies the safety and effectiveness on people.

Phase III

Studies the safety and effectiveness and dosing on people.

Phase IV

Studies the long-term effectiveness and compares new treatment to standard treatment on people.

Trusted Partners

Genetelligence focus on services, research and development in the field of personalized medicine. Therefore, we work with a wide range of private and public institutions. Please, feel free to contact us for possible cooperation.