What is PharmaGene?

Small genetic changes encoding proteins in the Pharmacokinetic pathways related to Absorption, Distribution, Metabolism and Excretion (ADME) of drugs and other compounds, can make big changes in the protein’s functionality.

PharmaGene, a pharmacogenomic test, scans an individual’s genetic code identifying the SNP’s 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 other pharmacogenomic tests currently on the market, PharmaGene also looks at drug-drug and drug-lifestyle interactions; and 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.

Who can use PharmaGene?

PharmaGene can be used for any patient for which you want to understand their risk rating for current and proposed drug regimens or who are struggling to find an optimal regimen.

Patients who would benefit the most from PharmaGene

Polypharmacy patients

Patients taking multiple medications are more likely to suffer from an adverse reaction. This may be because they do not respond well to a medication, or two drugs are interacting. Since PharmaGene considers both drug-drug and drug-gene interactions, it ensures a low risk regimen for polypharmacy patients.

Patients who have had an adverse reaction

Patients who are prone to, or have had, adverse reactions to one or more medications can avoid further side effects with a PharmaGene test. Specific Single Nucleotide Polymorphisms (SNPs) causing these side effects can be determined and a suggested alternative medication will be given to avoid further adverse reactions.

Treatment resistant patients

Some medications may have no efficacy in certain patients if their genes transcribe moderately to completely inactive metabolism proteins. This will cause a patient to be resistant to treatment. A PharmaGene test could provide insight of dosage or an alternative medication to optimise efficacy

Using pharmacogenomic testing more widely has the potential to keep people healthier for longer, improving their care and outcomes.

PharmaGene report

Live report

R 4 900

PharmaGene makes use of a live report which includes an online portal which will be used solely by practitioners. The product is positioned in the market for use with patients on polypharmacy (more than four medications), or for those where finding the right treatment regimen is proving to be difficult. The benefit to using the live report is that a practitioner can manipulate a regimen in real-time to achieve the lowest risk score possible according to gene-drug, drug-drug, and drug-lifestyle interactions. This portal will also automatically update as more pharmacogenomic data becomes available.

Benefits of PharmaGene

There are more than 200 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) on 5 288 individuals over the age of 65². The findings showed:

01

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.

02

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%.

03

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.

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.

Additional benefits

01

Value for you as the practitioner

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.

Differentiate your practice by introducing personalised treatment.

02

Value for your patients

They will have a list of drugs which may be toxic or ineffective for them.

Fewer adverse reactions to medications.

03

Value for funders and your patients

Save on cost and time to getting to the right treatment regimen.

For which there are strong studies supporting this.

Examples of the benefits of Pharmacogenomic testing

Late-life depression (LLD)

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

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.

Cardiovascular drugs

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 and/ or treatment resistance.

Steven Johnson Syndrome (SJS)

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-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 others^8,9.

01

Download the PharmaGene TRF and fill it in for your patient and email it to pharmagene@nextbio.co.za.

Download TRF

02

We will contact your patient to arrange payment and send them a saliva collection kit.

03

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.

04

Two-three weeks later your patients report will be emailed to you.

05

A link and sample ID will be included in the report for you to use in order to access the live portal.

How can PharmaGene help me improve my patient’s health?

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.

How long until I receive the results?

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.

What if my patient is not taking any medications currently, is the test still valuable?

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.

What happens to my patients DNA?

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.

Will PharmaGene report on genetic conditions I may be at risk for, e.g. cancer?

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.

How is my information kept secure?

Next Biosciences takes the privacy of its clients very seriously and has implemented reasonable security measures to guard against the unauthorised disclosure of private client information in line with the Protection of Personal Information Act (POPIA). Visit our Privacy Policy for more information.

Healthcare Providers Test Requisition Form

Report Template

Journal of Personalised Medicine

Royal College of Physicians and British Pharmacological Society. Personalised prescribing: using pharmacogenomics to improve patient outcomes. Report of a working party. London: RCP and BPS, 2022
Jarvis, J et al. Real-World Impact of a Pharmacogenomics-Enriched Comprehensive Medication Management Program. J. Pers. Med. 2022, 12(3), 421
Jha, M and Trivedi, M. Pharmacogenomics and Biomarkers of depression. Handb Exp Pharmacol. 2019. 250: 101-113.
Bondy, B. Pharmacogenomics in depression and antidepressants. Dialogues in clinical neuroscience. 2005, 7:223-230.
Sharp, et al. Polypharmacy: A Healthcare Conundrum with a Pharmacogenetic Solution. Crit Rev Clin Lab Sci. 2021, 1-20.
Bozina, et al. Use of pharmacogenomics in elderly patients treated for cardiovascular diseases.
Fang, et al. A Screening Test for HLA-B∗15:02 in a Large United States Patient Cohort Identifies Broader Risk of Carbamazepine-Induced Adverse Events. Front Pharmacol. 2019. 10:149.
Federico Innocenti et al. 2020. All You Need to Know About DPYD Genetic Testing for Patients Treated With Fluorouracil and Capecitabine: A Practitioner-Friendly Guide. JCO Oncol Pract. 16:793-798.
Brooks, G. 2021. Economic Analysis Justifies the Cost of DPYD Genotyping to Safeguard Patients With Colon Cancer From Chemotherapy-induced Toxicity. J Clin Oncol. 39, 2021. 3:55)