Pharmacogenomic testing overview

Overview

Pharmacogenomic testing is a type of genetic test that looks at your DNA to predict how well you may respond to certain medicines. It helps doctors choose the right medicine and dose for you, making treatment more effective and reducing the risk of side effects.

Pharmacogenomic testing is becoming more common, but it is not yet offered to everyone. It is often used in certain areas of medicine, such as psychiatry, cardiology, and cancer care.

Anyone who takes medicines can potentially benefit from pharmacogenomic testing. It is especially useful for people who have had poor responses to medicines before, or who need to take multiple medicines.

Symptoms

Common symptoms

• There are no symptoms of pharmacogenomic testing – it is a test, not a condition. But people might consider testing if they have had unexpected side effects from a medicine, or if a medicine did not work as expected.

Symptoms in children

• Children may be tested if they need a medicine that has known genetic variations in response, such as some painkillers or medicines for attention deficit hyperactivity disorder (ADHD).

Symptoms in older adults

• Older adults may benefit from testing because they often take several medicines and may have a higher chance of side effects.

Causes

Main causes

• Pharmacogenomic testing looks at inherited genetic variations that influence how your body processes medicines. These variations are natural and are not caused by any disease or lifestyle.

Risk factors

• A family history of unusual reactions to medicines may suggest a genetic variation.
• Being of certain ethnic backgrounds can also mean you are more likely to have specific genetic variants that affect medicine response.

When to see a doctor

See a doctor urgently if:

• Seek urgent medical help if you have a severe reaction to a medicine, such as difficulty breathing, swelling, or a sudden severe rash.

Book a routine appointment if:

• Talk to your doctor about pharmacogenomic testing if you have had repeated problems with medicines not working well, or if you have experienced side effects that seem unusual.

Diagnosis

Pharmacogenomic testing is not a diagnosis of a disease. It is a genetic test that identifies how your genes may affect your response to medicines. A healthcare provider will order the test after discussing your health needs.

Tests that may be done

• A cheek swab (gently rubbing the inside of your cheek with a soft brush).
• A blood sample taken from your arm.

What to expect at your appointment

The sample is sent to a laboratory. Results usually come back within a few days to a couple of weeks. Your doctor will review the results with you and explain what they mean for your treatment.

Treatment

Pharmacogenomic testing is not a treatment itself. Instead, the results guide your doctor in selecting the most suitable medicine and dose for you. This is called personalized or precision medicine.

Self-care at home

• Keep a record of any medicines you have taken and how they affected you.
• Tell your doctor about any side effects you experience.
• Do not change or stop your medicines without talking to your doctor first.

Medical treatments

Based on the test results, your doctor may adjust your current medicine, switch to a different medicine, or change the dose. They will consider your overall health, other medicines, and the condition being treated. The goal is to find a treatment that works best for you with the fewest side effects.

When is surgery considered?

Surgery is not relevant for pharmacogenomic testing. However, the test results can help anaesthetists choose safe and effective pain relief and anaesthesia during surgery.

Living with this condition

Living with pharmacogenomic test results simply means you have information that can make your medicine routine safer and more effective. You may need to update your healthcare team about your genetic profile whenever new medicines are prescribed.

Lifestyle tips

• Carry a list of your current medicines and your pharmacogenomic test results with you.
• Share your test results with all your healthcare providers, including your pharmacist.
• Learn about your condition and the medicines you are taking.

Diet and exercise

Your diet and exercise routine are not directly affected by pharmacogenomic testing. However, some medicines may interact with certain foods or supplements. For example, grapefruit can affect how some medicines are broken down. Your doctor or pharmacist can guide you on any changes needed.

Mental health and emotional wellbeing

Having pharmacogenomic testing can be empowering because it gives you more control over your treatment. However, some people may feel anxious about genetic information. It is normal to have questions. Talk to your doctor or a genetic counsellor if you feel concerned.

Prevention

Pharmacogenomic testing does not prevent disease, but it can help prevent adverse drug reactions by matching you with the safest medicine from the start.

Complications

If left untreated

• Without pharmacogenomic testing, someone with a genetic variation may experience serious side effects from a standard dose of a medicine.
• The medicine may not work effectively, leading to worsened symptoms or disease progression.

Long-term outlook

Pharmacogenomic testing offers a way to make medicine safer and more effective. It is a growing field that holds great promise for improving treatment outcomes. While no test can predict everything, knowing your genetic profile can help you and your doctor make better decisions together.

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