How are your genes sequenced?

After you have completed the online registration for the study, we will send you a saliva or blood kit in the post. We will ask you to return your sample by post in a pre-paid envelope.

This sample will be used to carry out genetic testing for both GBA1 and LRRK2 genetic changes.

Will I discover whether I am a carrier of the GBA1 gene change if I don’t already know?

In order to participate in this study, you will need to be informed of your genetic results so that we may be able to refer you to clinical trials and other studies. 
You should think carefully about this decision. Those who carry one copy of the gene change have a 50% chance of passing it on to their children. If your partner also possesses one copy of the GBA1 gene change (1% chance in the general population and 4% in the Ashkenazi Jewish community), there is a 25% chance that your child may develop Gaucher Disease, which in many cases is a treatable condition. There is also around a 10% chance of developing Parkinson’s associated with carrying one or two copies of the gene change. Carriers of the gene change may have siblings and parents who are also carriers, therefore the decision may have an impact not just on you but on others in your family.

Will I discover whether I am a carrier of the LRRK2 gene change if I don’t already know?

In order to participate in this study you will need to be informed of your genetic results so that we may be able to refer you to clinical trials and other studies. 
You should think carefully about this decision. Although the LRRK2 gene is very rare (less than 1% of those in the Ashkenazi community and less than 0.01% of the general UK population) those who possess the LRRK2 gene have a 40% chance of developing Parkinson’s by the age of 80. Carriers of the gene change have a 50% chance of passing it on to their children. Carriers of the gene change may also have siblings and parents who are carriers, therefore the decision may have an impact not just on you but on others in your family.

Who can I speak to if I want to discuss this further?

If you would like to talk to somebody about the study and genetic sequencing, you can contact the study team here pdfrontline@ucl.ac.uk.