How Pharmacogenomic Testing (PGx) Can Help in the Treatment of PMDD

Published 14/10/2024

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What is PMDD?

Premenstrual Dysphoric Disorder (PMDD) is a severe form of premenstrual syndrome, popularly known as PMS. PMS is manageable and has mild symptoms, while PMDD is more severe, difficult to manage and characterised by intense emotional and physical symptoms. These symptoms occur in the luteal phase of the menstrual cycle (the period between ovulation and menstruation) and can include mood swings, irritability, depression, anxiety, fatigue, and even suicidal thoughts. Typically, these symptoms subside when menstruation begins.

Symptoms of PMDD

 The symptoms of PMDD are divided into three categories:

·   Emotional Symptoms: Severe mood swings, irritability, depression, anxiety, anger, tension, feelings of being overwhelmed, and suicidal thoughts.

·   Physical Symptoms:  Bloating, breast tenderness, headaches, joint or muscle pain, and fatigue.

·   Behavioural Symptoms: Difficulty concentrating, changes in sleep or appetite and, a feeling of loss of control.

How Pharmacogenetic Testing (PGx) Helps With PMDD

Pharmacogenetic testing can significantly improve the management of PMDD by identifying the most effective medications tailored to a patient’s genetic profile. Since PMDD symptoms occur monthly before a patient goes on their cycle, finding the right medication that is best suited for them would be highly beneficial and improve their quality of life.  PGx testing analyses and assesses your genes to predict how your body will respond to medications that are used in PMDD therapy.

Common Treatments for PMDD and How PGx Can Improve Them

1.      Antidepressants (SSRIs)

Antidepressants, especially SSRIs (Selective Serotonin Reuptake Inhibitors), are the most commonly prescribed medications for PMDD. Examples of SSRIs that are covered in our PGx testing include fluoxetine, sertraline, and escitalopram. SSRIs work by increasing serotonin levels which will help stabilise mood and reduce the irritability that is usually associated with PMDD.

SSRIs are metabolised based on the genetic variations in the CYP2D6 and CYP2C19 gene in individuals. Variations in these enzymes affect how quickly or slowly SSRIs are processed in the liver. If SSRIs are metabolised too quickly, the medication might not be effective at the usual dose and if it metabolises too slowly the patient might experience heightened side effects such as nausea, agitation, and sexual dysfunction.

So PGx testing can help identify these genetic variants and help the doctor choose the right medication for their patients, improving efficacy and reducing side effects.

2.      Hormonal Treatments

Since PMDD is related to hormonal fluctuations, healthcare providers sometimes prescribe oral contraceptives to regulate these changes. Contraceptives such as Yaz (containing Drospirenone) are prescribed to regulate hormonal changes related to PMDD.

 The genes that influence hormonal metabolism are the CYP3A4 and SHBG (sex hormone binding globulin) genes, they affect how the patient's body processes oestrogen and progestins. PGx testing can help predict the likelihood of certain side effects such as blood clots and mood changes from oral contraceptives by showing gene-drug interactions that may indicate risks with certain contraceptives.

3.      Mood Stabilisers and Anti-anxiety Medications

For patients whose PMDD symptoms are dominated by mood swings or anxiety, medications like benzodiazepines or mood stabilisers (such as lamotrigine or valproate) may be prescribed.

The GABRA32 gene is linked to how an individual responds to benzodiazepines and the CYP450 family of enzymes plays a significant role in the drug metabolism of mood stabilisers , and PGx testing can help indicate whether someone is at a higher risk for adverse drug reactions to these drugs.

Benefits of Pharmacogenomic (PGx) Testing for PMDD

·   Personalised Treatment: PGx analyses your genes to predict how your body will respond to different medications, ensuring that the prescribed drugs are the most suitable.

·   Reduced Side Effects: By identifying how medications are metabolised, PGx testing helps avoid adverse reactions such as nausea and mood changes.

·   Optimised Dosages: PGx testing assists in determining the best dosage of medications.


How PGx Testing works

At AttoDiagnostics, PGx testing is simple and patient-friendly. Here’s how the process works:

1.   Order the Kit: Available on our website.

2.   Collect a Sample: A buccal swab is used by the patient to collect DNA.

3.   Activate the kit: Activation instructions available on the kit

4.   Send for Analysis: The sample is sent to our laboratory for testing and analysis

5.   Get Results: In 10-14 working days, results will be available through the patient’s portal

6.   Actionable Report: The report shows which medications are best suited for the patient, which should be avoided, and which might require dosage adjustments.

By integrating testing into PMDD treatment plans, healthcare providers can offer personalised, effective, and safer medication options. This means less trial-and-error , fewer side effects, and more consistent symptom relief , offering patients a better quality of life.

For more information on our PGx testing, request a quote.

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