The proteins in the pharmacokinetic pathways are related to absorption, distribution, metabolism and excretion (ADME) of drugs and other compounds. Small genetic changes here can make big changes in the proteins involved in ADME.
PharmaGene, a pharmacogenomic test, scans an individual’s genetic code to look for specific variations they carry which will affect their response to specific medications, and potentially lead to severe adverse reactions, or poor efficacy. This information can be used to guide the choice of medicine and dose, increasing the likelihood that each person receives the most effective medicine and dose for them.
Compared to pharmacogenomic tests currently in the market, PharmaGene also looks at drug-drug and drug-lifestyle interactions. Should the individual be on medication currently, the test will provide a holistic and personalised view of their current risk level for negative side effects in the form of a risk rating.
PharmaGene can be used for any patient for which you want to understand their risk rating for current and proposed drug regimes.
PharmaGene+ is a real-time clinical decision support modeling tool for practitioners. It will allow practitioners to tailor an optimal treatment plan for their patient using the live tool to modify doses or medications in order to achieve the lowest risk level for side effects whilst still achieving the intended therapy outcome. This tool is particularly helpful for patients with polypharmacy or where finding the right treatment is proving to be difficult. This is mostly prevalent with psychiatry, oncology and elderly patients.
This is a static report that shows, from a list of medications, which may be ineffective and those which should be avoided due to the high risk of severe adverse reactions. Should an individual be on medication currently, a risk score will be provided illustrating how likely they are to develop side effects based on their genetic makeup, drug-drug, and drug-lifestyle interactions.
This is a live portal which will be used solely by practitioners. The product is positioned in the market for use with patients impacted by polypharmacy (more than four medications), or for those where finding the right treatment regime is proving to be difficult.
There are more than 150 medications that are affected by genetic variations in our DNA. Among these medications are those commonly prescribed for cardiovascular disease, diabetes, mental health, cancer treatment, and pain management. Tailoring a patient's treatment plan based on their genetics can reduce potential toxicity and improve efficacy. Countless pharmacogenomics studies have been published which has shown to improve outcomes for these patients. Through PharmaGene, the right treatments can be found, the cost of care will be reduced and improve quality of life for patients.
Coriell Life Sciences performed a retrospective study which analysed the outcomes of the GeneDose LIVE clinical decision support system (brought to you by Next Biosciences as PharmaGene+) on 5 288 individuals over the age of 652. The findings showed:
Improvements in medication safety
100% of participants had at least one variant know to impact medication outcomes, and 66% of participants had a generic risk for one of their currently prescribed medications.
Significant economic savings
Direct medical charges were reduced by $218.34 per study participant per month, providing a cumulative saving of $37 027 796 over the 32-month study period. These savings were largely related to a decrease in emergency room visits and inpatient hospitalisations.
Consistent reductions in healthcare resources utilisation
Inpatient visits decreased by 14.9%, Emergency department visits decreased by 6.8%, and outpatient visits decreased by 1.9%.
In a report published by the Royal College of Physicians and British Pharmacological Society they have stated that their ultimate goal is to make pharmacogenomic-based prescribing a reality. “This will empower healthcare professionals to deliver better, more personalised care, and in turn improve outcomes for patients.”Unwanted side effects from prescription drugs cost the NHS £530 million annually in hospital admissions1.
Make more informed and personalised medication choices for your patients.
Impact positively on patient treatment outcomes.
Happy patients recommend practitioners due to positive treatment journeys and outcomes.
They will have a list of drugs which may be toxic or ineffective for them.
Fewer adverse reactions to medications.
Save on cost and time to getting to the right treatment regime.
For which there are strong studies supporting this.
Late-life depression (LLD) is a major depressive disorder which affects individuals over the age of 60. It is frequently associated with an ineffective response to antidepressants and polypharmacy. Pharmacogenomics provides a tool for HCPs to determine the genetic cause of response rates and side effects to antidepressants 3,4.
Polypharmacy is a common issue faced by, but not limited to, the elderly. Pharmacogenomics testing would provide a more logical and empirical approach to polypharmacy by helping alleviate adverse effects from both drug-gene and drug-drug interactions5.
Positive pharmacogenomic findings have been found for the majority of cardiovascular drugs, which suggests that testing prior to treatment can improve efficacy and minimise the risk of toxicity6.
In roughly 80% of cases, the cause of Steven Johnson Syndrome (SJS), a rare and serious disorder of the skin and mucous membranes, is based on a reaction to carbamazepine (CBZ) and CBZ-related drugs (i.e. phenytoin and lamotrigine). The majority of these reactions has been linked to a genetic variant on the HLA-B gene (which provides instructions for making a protein that plays a critical role in the immune system). Carriers of the HLA-B*15:02 allele have a strong association with SJS related to the use of the above-mentioned drugs. The presence of the HLA-B*15:02 allele puts an individual at a 25% increased risk of having a SJS when administered with CBZ. SJS can result in death or ICU for protracted periods of time. Knowing the risk upfront means preventing these severe reactions and hospitalisation. The FDA recommends that prior to initiating carbamazepine therapy, testing for HLA-B*15:02 should be performed in patients with ancestry in populations in which it may be present and that CBZ should not be used in patients positive for HLA-B*15:02 unless the benefits clearly outweigh the risks7.
5-Fluorouracil (5-FU) is a medicine used to treat symptoms of breast cancer, as well as cancers of the colon, stomach, and pancreas. Due to the severity of reactions for some individuals to these medications, the international recommendation is to test before administering. There are four known allelelic variants in the DPYD gene with a strong association for severe adverse reactions to 5-FU, capecitabine, and other analogues.
The prevalence of DPD deficiency, based on activity levels measured in blood cells and the uracil breath test, has been reported as 3%-5% in patients of European origin and 8% in patients of African origin. In addition, the US National Library of Medicine reports a prevalence of partial deficiency of 2%-8%, based on the aforementioned study and others8,9.
Download the PharmaGene TRF and fill it in for your patient and email it to firstname.lastname@example.org.
We will contact your patient to arrange payment and send them a saliva collection kit.
Upon receiving the kit, your patient will take their sample and inform us when it is ready for collection. We will arrange for the sample to be couriered to the lab.
Two-three weeks later your patients report will be emailed to you.
If you ordered PharmaGene+ a link and sample ID will be included in the report for you to use to access the live portal.
This test may determine whether an alternative drug therapy is better suited for your patient. It could be that a different medication would be more effective for them or less likely to cause side effects. It also eliminates some of the guesswork around choosing medication for your patient, you will be aware upfront of the drugs most suited to your patient based on their genetic makeup, lifestyle, and current drug regimen.
When we receive the saliva sample, it typically takes about two-three weeks to process and analyse the DNA. After that, you will receive your report via email. In rare instances, we may need to repeat the test on a new saliva sample, which could delay the result.
It doesn’t matter if your patient is taking medication currently or not, this is a once-off test, and the information can be used for drug choices in the future. If you prescribe a new medication in the future, you could use this report to determine what the best medication option is for your patient.
During the analysis process, generally most of the DNA is consumed. However, should some be leftover following testing we will store it for five years, in accordance with local regulation.
The PharmaGene test will only analyse and report on genetic variation which affects your response to medication. PharmaGene does not test for genetic conditions or the risk for developing such conditions later in life.