Take part in the 100,000 Genomes Project
Do you or a family member have ADPKD or ARPKD but have never had a genetic diagnostic test?
If you have ADPKD (Autosomal Dominant Polycystic Kidney Disease) or ARPKD (Autosomal Recessive Polycystic Kidney Disease), you may be eligible to take part in the 100,000 Genomes Project run by Genomics England, part of the Department of Health.
You may have heard of this exciting project in the media. Genomics England is analysing - known as 'sequencing' - 100,000 genomes of people in the UK with rare diseases and cancer. The aim is to stimulate innovative research, deliver greater medical insights and transform genetics health services. Some people may also receive a conclusive diagnosis for the first time.
What is a genome?
A genome is one whole set of your genes plus a lot of other DNA found in the cells in your body. Every human has about 20,000 genes - the same number as many other species including starfish - which account for less than 5% of your genome. The rest of the genome was first thought to be mainly 'junk' DNA but it's now known that all your genome is important, for example in switching genes on and off. That's why scientists are now sequencing whole genomes around the world. The first genome was sequenced in 2000 at huge cost, but whole genome sequencing is much more affordable too.
Find out more about the 100,000 Genomes Project.
How to take part if you have ADPKD - or Autosomal Dominant Polycystic Kidney Disease
ADPKD patients are eligible to sign up, IF you haven’t had a prior genetic diagnosis using existing tests. A single family member may be sufficient for the project.
However, if the sequencing doesn't lead to a definitive identification of the underlying genetic alteration or mutation, additional family members with ADPKD will be encouraged to sign up.
How to take part if you or your child has ARPKD - or Autosomal Recessive Polycystic Kidney Disease
Children and adults with ARPKD are eligible to sign up, IF you haven’t had a prior diagnosis using existing genetic testing.
Ideally, the affected child or adult plus their parents will be invited to take part, but a patient with single parent may be sufficient for the project.
How happens if I agree to take part?
If you agree and give consent to take part, you will also be asked to provide blood samples and complete a medical information questionnaire.
After sequencing your genome, the results will be given to you by your doctor. This may take many months as the genetic information provided by whole genome sequencing is hard to interpret.
In advance of sequencing, you can decide how much or how little additional information you want to know about your genome. For instance, whether you have other conditions that are currently unknown to you or you are asymptomatic.
Watch a Genomics England video about how Genomics England makes discoveries from sequencing the human genome.
What will happen to your data?
Your data will be kept securely and confidentially by Genomics England. They use industry-standard tools and techniques to prevent unauthorised access and you can find out more on the Genomics England website.
With your consent, Genomics England will compare your data with data from other people with PKD in the project. Approved scientists can ask for access to all this data to understand more about PKD, its impact and potentially how to treat it in future.
Genomics England strictly checks the identity of researchers and closely monitors the use of data. All research is subject to a rigorous ethical approval process. At any time, you can withdraw your data from the project.
Watch a Genomics England video about what happens to data.
How to sign up
Ask your hospital doctor about taking part in the 100,000 Genomes Project. If you are seen by a GP, please contact Tess at the PKD Charity who will find a local hospital your GP can refer you to.
Information is also available at https://www.genomicsengland.co.uk/genomic-medicine-centres/