Taking part in the 100,000 Genomes Project

Marian was diagnosed with common variable immunodeficiency (CVID) in 2006 and began intravenous immunoglobulin infusions shortly after. In 2018 she took up to take part in the 100,000 Genomes Project.

When did you first sign up to take part in the 100,000 Genomes Project?

In March 2017 a representative from the project gave a talk to rare disease patients at the hospital I attend. I spoke to the representative afterwards and expressed my interest in taking part in the project.

Which of your doctors put you forward for the project and why?

I put myself forward for the project, so the representatives had to talk to my specialist about my medical history. My specialist agreed it was fine for me to take part in the project.

It took a long time to be fully accepted onto the project because all participants must gain permission from their team.

What processes did you have to go through to take part?

After I was accepted onto the project I went to a research facility in Preston, where I met a specialist nurse from the project. We sat in a private room and went through every part of the agreement to make sure I understood it all.

You can agree or disagree to take part in different aspects of the project. I agreed to take part in every aspect of the project because I was happy with everything, and I think that research is so important and can help future generations, not just our own.

What are you hoping to get out of the project personally?

For me, it would be lovely to know why I have common variable immunodeficiency and where it’s come from, if anywhere. I don’t know much about my grandparents and I have children, so it would be good to know whether there is a genetic and heritable aspect to the condition.

If there is an inheritable component, then I feel that more knowledge is needed to be able to find out the root cause of the condition. So many patients are suffering with rare diseases; it’s important to find out why. It is so important for the future that more research is done in the hope that we can discover why conditions occur and to improve the treatment for them.

From a personal point of view, I’m a biologist. That makes me interested in learning more about my genome.

Did you have any reservations about taking part in the project?

The only reservation I had was a small one for me but I know it’s a greater concern for others. It relates to personal data and information being leaked accidentally to people you don’t want to see it. Recorded data is never 100% secure.

The 100,000 Genomes Project is constantly updating its data security protocols.

You can also opt out of the project at any time, which means your data is deleted.
The important thing to remember is that only two people know you are taking part: your specialist and the specialist nurse who signs you up to the project. You are then given a bar code for all future tests, so nothing can be traced back to you. All the lab technicians know you by your bar code only, not your name.

Are you concerned that the project will uncover results you are not expecting?

No, I’m not. There is no indication in my family that there are any other conditions. If the results indicate I may develop something else, then I will treat it. If it cannot be treated, I will just be prepared for it. 

Are you involved in any other research projects?

No. I’ve never had the opportunity before to be involved in such a big research project.

The 100,000 Genomes Project often requires two members of your family to participate too. Who else in your family is taking part in the project and did they have any reservations?

No one else in my family is taking part because I am quite unique in that there is no history of common variable immunodeficiency in my family. In the future, my siblings could take part if something does come up.

How soon are you expecting to get the results?

It can take up to two years to hear something or I could hear something in six months. It depends what they find. They might not find anything.

As scientists become more knowledgeable about the genome, more discoveries could be made.

What advice would you give to other patients who are asked to take part?

It is so important that people do their research. I went to the 100,000 Genomes Project website and read all the content there, so that I fully understood it. It put my mind at rest because I understood what may happen. Reading the website content meant that when I met the specialist nurse I could ask questions and give fully informed consent.

It is so important that you fully understand the project because this research has such wide-ranging possibilities for us, and particularly for our children, who may be affected by our condition if they inherit it.

To learn more about the 100,000 Genomes Project, visit www.genomicsengland.co.uk/the-100000-genomes-project/

Posted August 2018