FAQs for the BioResource – Rare Diseases

People Panel A_2x4_Rare DiseasesWhat is a BioResource?
A BioResource is a panel of volunteers with and without health problems who have provided a sample of their blood or saliva for DNA analysis which can be used to invite them to participate in research studies into genes, environment and health. If you are interested in taking part please visit the main NIHR BioResource pages.

How is the NIHR BioResource – Rare Diseases different?
The NIHR BioResource – Rare Diseases aims to recruit people who are affected by uncommon or rare diseases for the specific purpose of analysing their genotype. Participants are recruited to a specific study relating to their disease. There are already several studies in place and each aims to recruit between 500-1000 volunteers. See the ‘Study Themes’ page for more information.

Who are NIHR?
The National Institute for Health Research (NIHR) is a large nationally distributed organisation in England, funded by the Department of Health, that aims to improve the health and wealth of the nation through research. As well as commissioning and funding research, the NIHR also supports individuals carrying out and participating in research, provides facilities for a thriving research environment and aims to create streamlined systems to manage research and its outcomes. You can read more about their activities on the NIHR website

What are the benefits of taking part?
By joining the NIHR BioResource – Rare Diseases you will be providing world class scientists with the resources they need to discover more about the disease that affects you and/or your family. Although this may not directly benefit you, the aims of the project are to improve treatment for these diseases.

Are there any risks from taking part?
There is a minimal risk associated with having a blood sample taken (small risk of bruising, inflammation or fainting). The blood samples are collected by trained phlebotomists, research nurses and clinical staff.

Will I have to take time off work?
No. Recruitment will be carried out by the clinical care teams at the specialist centres you already attend. The study can be explained, consent taken and a sample donated by yourself during your normal clinic appointment, or can be arranged at your convenience. Sometimes the information will be sent directly to your home, and you can register your interest by replying to the letter of introduction.

Do I have to give a blood sample to take part?
No. For most participants it will be easy to take an extra sample of blood for the study when they have their normal blood samples taken at the clinic. However, if you do not have blood regularly taken or would prefer not to donate in that way, you can provide a saliva sample. See ‘When you join’ for more details.

Will I be paid to take part?
No. Your sample is a gift to research and thus that is how we will treat it. As recruitment will take place during your regular clinic appointments there should be no additional cost to you in time or money, if you choose to take part.

My specialist centre is not listed. Can I still take part?
Yes. If your consultant is happy for you to take part they can refer you to a nearby registered centre for recruitment.

What happens to my sample?
Your blood sample will be labelled with a unique sample study number when it arrives in the laboratory for DNA extraction. The genetic code will then be sequenced and analysed by comparing it to other samples from participants recruited to the same disease study, and to control sequences. Any relevant pertinent findings, once validated, can be fed back to you via your clinical care team if you gave permission.

Will my data be confidential?
Yes. Only authorised members of the BioResource team (who do not have access to the results of any genetic tests) will be able to access the information. See the ‘Confidentiality’ page for more details.

Will the results affect me?
It is not planned to routinely feedback the results from genetic or other tests obtained from the donated samples. However, if the research does identify a cause of the rare disease in your family with your permission we would let your doctor and clinical care team know.

Will my insurance be affected?
No. The government has committed that until at least 2019, persons taking out insurance are not obliged to share genetic test results acquired as part of clinical research. For more information see government publications

Can I withdraw from the study?
Yes. Participants can withdraw from the study at any time without having to give a reason. If anonymised genetic data has been shared with other research groups this will not be withdrawn as we would be unable to identify it as a sample taken from you.

If you would like to read more FAQs on the NIHR BioResource please click here