Study Information

In clinical practise, there is often a trial-and-error approach to prescribing the most appropriate medication for a patient. Often this involves clinicians prescribing two or more antipsychotics in varying dosages before finding the medication with the best efficacy and tolerable side effects. After we take any drug, our body needs to break it down and get it to the desired area before it can start working, and many factors can influence not only this process, but how we respond to it. 

Factors can range from age to environment to genetics. Everyone’s genetic information is different and a genetics-guided approach tailors’ treatment to everyone. It is possible that genetic differences could explain why some patients respond to their treatment better than others and why some patients experience severe side effects.

By running this study, we aim to investigate if genetic testing can help optimise the prescribing of psychotropic medications and lead to improved clinical outcomes with reduced side effects. This project aims to fill this gap by conducting a study to investigate the use of pharmacogenetic testing to optimise the management of psychotropic drugs.  

Explainer tip 

Think of your body like a factory where medications are processed. The “workers” in this factory are enzymes that break down the medications you take. Some people have faster or slower workers due to their genetics, which can affect how well a medication works and whether it causes side effects. This study is testing if genetic testing can help doctors choose the best medication for you, reducing the trial-and-error process and improving treatment outcomes.

Objective: Develop a pharmacogenomic intervention in the NHS to guide the prescribing and dosing of antipsychotic drugs.

Aims:

1. To investigate if genetic testing can help reduce adverse drug reactions
2. To collect feedback from clinicians on the value of the intervention
3. To evaluate the cost-effectiveness of this intervention

We are inviting people over the age of 18 who have a clinical diagnosis of a mental illness (such as schizophrenia or bipolar disorder) to take part in this study to help us to understand more about the treatment of these illnesses. Eligible participants must be currently prescribed or soon to be prescribed antipsychotics.

We plan to recruit upwards of 420 participants.

you may be eligible if

1. You are over the age of 18

2. You have a clincial diagnosis of a mental illness

3. You are currently prescribed antipyschotics or will be soon

Once you contact the team, you will be sent an information sheet which will help you make an informed decision about if you want to take part. If you decide you would like to participate in the study, you are will be asked to sign a consent form. We also require consent from your clinician or GP.

There could be up to two required visits.

Once you have agreed to take part, you will meet with the study team to complete the baseline assessment. This can be done face to face, by telephone, or an online meeting. At the baseline you are required to complete the consent form, questionnaire and give a DNA sample. You will then be assigned a unique trial number that we will use to identify you and your sample.

The questionnaire consists of questions regarding your medical history, health, and wellbeing. You will be asked to provide either a blood, saliva or mouth swab sample for genetic testing. A single blood sample of up to 30ml (3 tubes) or a saliva sample of approximately 4ml (1 teaspoon) is taken.

In addition, you will be asked to do an optional blood test; this is to test the levels of three main chemicals in your blood: glucose (blood sugar), cholesterol and prolactin (a hormone that sometimes increases if you take certain medications) and to measure the amount of medication in your blood.

Your doctor will discuss the results of your genetic test with you and explain what they mean. They might use this information to guide how best to treat you, but they might also decide that no changes are necessary. This will always be discussed with you in detail.

short summary

This study is all about understanding how your body reacts to treatments. After reviewing the study information, you’ll sign up and meet with the team to fill out a health questionnaire and provide a DNA sample (blood or saliva). You’ll may also do an optional blood test for glucose, cholesterol, and certain hormones. Your doctor will discuss your results and explain what they mean for your treatment. 

You will be seen again by the study team about three months and then six months after the genetic results are sent to your clinician and discussed with you. This can be done face to face, by telephone, or an online meeting.  Here we will repeat some, but not all, of the tests you had at the baseline visit.

The tests we will do at this visit are a physical examination, questionnaires on your health and well-being, an optional blood test to measure the amount of medication in your blood and to measure glucose, cholesterol, and prolactin levels.

Who can take part in the study?

Anyone who is 18 or over, who is taking or about to take an antipsychotic, and who has a clinical diagnosis of a mental illness. Take our eligibility quiz here to find out.

Does my clinician have to agree to take part?

A GP, psychiatrist or nurse prescriber can agree to take part in the study. In order for you to take part we must have a signed consent from a clinician. The research team can liaise with them with your consent.

Would there be a change in my medication or dose?

Not necessarily. Any changes to your medication would be agreed between you and your clinician having discussed the results from your test and only if it seems that a change would be helpful. There may be no change at all, there could be a change in the dose, or it could be that there is a medication which would be better for you.

Do I have to give a blood sample for you to get my DNA?

Not necessarily. You can provide a blood or a saliva sample. Blood is better for the study but we can accept either. 

What happens to my DNA sample?

The sample is kept very securely at UCL. It may be used for healthcare research but not used for financial gain. There are strict rules (e.g. The Human Tissue Act 2004) about how we must take care of these samples and protect your privacy. Small amounts of the DNA from this may be sent to labs in the UK and sometimes overseas if necessary.
If you change your mind about taking part in the study at any time you can contact us and request that your sample be securely destroyed. 

Do I get a copy of the results?

You can request a copy of the genetic report from your clinician. The study team is not allowed to give the genetic report directly to you, but we can send it to you with your clinician’s permission. 

Does the report become part of my medical record?

Ideally the report will be added to your medical record, as it will be very useful to refer to for your future healthcare. Depending which region you live in, your results may or may not automatically be added to your medical record.

What are the clinicians consenting to?

Allowing the local site to access their caseload, approaching, and discussing the study with eligible patients and discussing the results of the genetic test with the patient.

How will clinicians receive the results?

The clinician will be sent the genetic report. The genetic report will be in PDF format. The genetic report will operate on a traffic light system with recommendations for prescribing and dosing medication. Where EMC provides guidance, this has been prioritised. For more antipsychotics, the guidance is based on DPWG guidelines or FDA approved labels and FDA table of Pharmacogenetic associations.

What enzymes are we profiling?

CYP2D6 and CYP219 enzymes. These enzymes have guidelines and are evidence based.

Are you looking at current medication only or pre-emptive pharmacogenomics?

We’re looking at pre-emptive medication. Results will be included in the patient’s electronic health care records, and this can be used to guide medication in the future.

What happens if a patient is recruited inpatient, e.g. a ward, and then discharged to community services before the intervention (genetic report) has been delivered?

The original clinician consented into the study receives the report. If that clinician is unable to contact the patient, then the community clinician can be contacted and consented into the study to deliver the genetic report. The GP can be included as the clinician. If the new consultant is disinterested, then the genetic report can be added to the patient’s electronic health care records and other clinicians e.g., a pharmacist can provide advice and guidance.

What is the optimal way of posting back the saliva samples?

Ultimately the site decides how to send back the saliva samples. We ask that you place the tube back in the plastic container (this can withstand being crushed), place in an envelope (this can be padded or not) with an absorbent pad and a UN3733 diagnostic specimen label. Label the envelope with the UCL address (see below) and a return address.

Where do we send the saliva kit to?

Send the sample to:

FREEPOST University College London
Pharmacogenetics in Mental Health

How are the samples stored?

Blood samples will be stored in the freezer. Saliva samples can be stored at room temperature.

Do you prefer blood or saliva samples?

We are happy to accept blood or saliva samples, but blood samples are more efficient for the study. We can easily extract DNA from blood samples in the lab.

Who can obtain a blood sample?

We have noticed that saliva samples have been easier for sites to obtain, but on occasions when this hasn’t been possible there is always the option of bloods. Bloods will have to be taken by a trained member of staff within the local team.

How is blood stored?

In a 4 degree fridge for up to a week or in a - 20 degrees standard freezer indefinitely. This is convenient for sending batches. If there are no low temperature facilities i.e. fridge at 4 degrees or -20 degree freezer, samples can be stored at room temperature for up to three days, but the sending of the samples should be expedited and not delayed for batch accumulation.

When would you like the blood samples?

We would prefer the blood samples the day of collection. We understand this is not always possible the samples must be stored - 20 degrees indefinitely or at room temperature for no more than three days before being sent

How do we send the blood samples?

If you do not have an internal courier for sample delivery, we can give you several options of couriers that can be booked for the same day. These are only suggestions based on couriers we have used in the past and we do not have any business affiliations with them.

What blood tube should we use?

The Lavender top (example: BD Vacutainer example: BD Vacutainer™ Plastic K2EDTA Tube with Lavender Hemogard closure).

What do the blood tubes need to be transported in?

We prefer them to be sent in the CAT B Bags, these bags come with an absorbent pad and sealable strip.

Where do we ship the blood samples to? Is it the same address as the saliva samples?

No, blood is shipped directly to our lab colleague Marius Cotic at:

UCL Genomics 
UCL Great Ormond Street Institute of Child Health 
Zayed Centre for Research into Rare Disease in Children 
20 Guilford Street, 
London WC1N 1DZ