Pharmacogenomic Testing (PGx) to Support Contraceptives

What is PGx Testing?

Pharmacogenomic (PGx) testing is a personalised medicine approach that looks at tailoring medications and treatments for patients based on their genetic makeup. Through PGx testing, healthcare providers can adjust drug dosages, choose the right medication that will minimise unwanted side effects and significantly reduce the trial-and-error period involved in finding the right contraceptive. This approach is not only cost effective but also enhances a patient’s quality of life throughout their birth control journey.

Relevance of Pharmacogenomic Testing In Contraceptive Treatment

Finding the right contraceptive for an individual has always proven to be a difficult task as each person responds differently. Each person has a unique genetic makeup that affects how they metabolise or respond to various hormonal contraceptives. PGx testing helps identify the best contraceptive option for individuals by reducing side effects, improving efficacy, and minimising the time spent on finding a suitable method. This approach also lowers costs in the long run, making it an efficient option for personalised contraceptive care.

Oestrogen Metabolism

Certain genetic variants influence how an individual metabolises oestrogen (a hormone that is responsible for regulating female characteristics and reproductive functions) . Variations among individuals in the CYP1A1 and CYP3A4 genes can influence how oestrogen is metabolised. This might affect the risk of side effects such as venous thromboembolism. PGx testing can help identify whether a patient has a higher or lower risk for complications related to oestrogen metabolism. 

Progestin Sensitivity

Progestins are synthetic hormones, and they are used in many forms of hormonal contraceptives such as pills, patches, implants, and injections. The gene that codes for progesterone receptors is the PGR gene and it influences how an individual responds to different progestins. PGx testing can help evaluate and indicate which progestin formulation will be the most effective with fewest side effects for an individual. 

Thromboembolism Risk

Women who are on oestrogen-containing contraceptives and have genetic variants in the Factor V Leiden gene (F5) or Prothrombin gene (F2) have a higher risk of blood clots. With PGx testing this can be avoided for certain patients and they can be given alternative methods of contraception such as progestin-only pills or IUDs.

Pharmacogenetic Testing for Common Contraceptive Medications

At AttoDiagnostics, the most commonly evaluated medications in contraceptive PGx testing include:

• Estradiol
• Estriol
• Ethinylestradiol
• ·Tibolone

How variations in the F2 and F5 gene can affect contraceptive outcomes

Mutations in the F2 (Prothrombin) and F5 (Factor V Leiden) genes significantly increase the risk of blood clots in women using oestrogen-containing contraceptives.

• Prothrombin gene: Women with the G20210A mutation in the F2 gene have 2 - 4 times higher risk of venous thromboembolism (VTE), including DVT and PE, compared to those without the mutation.
• Factor V Leiden gene: Mutation in the F5 gene increases the risk of VTE by 3 - 8 times. If a woman carries both the F2 and F5 mutations, her risk of blood clots rises dramatically.
  
  

The future of PGx in Contraceptive Care

Pharmacogenomic testing will continue to play a pivotal role in personalising contraceptive care. By identifying genetic risks, healthcare providers can guide patients toward safer and more effective contraceptive options. At AttoDiagnostics , we offer PGx testing to assist professionals in customising contraceptive plans for their patients, ensuring cost-effectiveness and promoting better quality of life, and reducing the risk of serious and unpleasant potential venous thromboembolic events.

For more information on our pharmacogenetic testing services, please request a quote.

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