New patients with a suspected primary immunodeficiency (PID) are eligible to be included in this project.
Patients will need to be recruited to both the NIHR BioResource – Rare Diseases project and the National Genomic Research Library being run by Genomics England.
Only when a patient has given their consent to participate in both projects will their DNA sample be sent for whole genome sequencing .
Recruitment to the NIHR BioResource – Rare Diseases
If the NIHR BioResource – Rare Diseases project has been set up at your hospital clinicians can recruit eligible patients. Contact the NIHR BioResource Rare Disease study team to find out if your hospital has been set up.
If your hospital has been set up and you wish to begin recruiting contact the Rare Diseases study team before doing so to ensure that you have all the relevant paperwork and sample collection and postage packs.
Further information on consenting patients NIHR Rare Diseases BioResource and collecting samples can be found on the NIHR BioResource website.
Recruitment eligibility criteria:
| Inclusion | ● Age >18 years, ● Suspected primary immunodeficiency, AND / OR ● Recurrent / protracted or unusual infection |
| Exclusion | ● Secondary immunodeficiency resulting from previous immunosuppressive / chemotherapy treatment preceding the onset of infections, ● Secondary immunodeficiency resulting from renal / gut / other loss of immunoglobulin and/or lymphocytes |
Q: I have patients that previously had a GRID panel. Can they be included in the INTREPID project?
A: Yes, they can
If you have a patient that previously had a GRID panel they can be included in the INTREPID project if they meet the recruitment eligibility criteria. They will need to join both the NIHR BioResource – Rare Diseases and NGRL as a new patient.
If you would like a list of your patients that had a GRID panel please contact the INTREPID project team
Recruitment to the National Genomic Research Library
THe INTREPID project is the route for NIHR BioResource PID participants to have whole genome sequencing (WGS) and Genomics England is the WGS partner for the project. In order to send DNA to Genomics England NIHR BioResource – Rare Diseases PID participants must also join the National Genomic Research Library (NGRL).
Consent to join the NGRL is necessary to allow Genomics England to make de-identified genomic and health data available to approved researchers in addition to the INTREPID project team. The additional sharing of de-identified data to approved researchers increases the potential benefit to be had from a participant’s contribution to the NIHR BioResource – Rare Diseases.
Further information on the NGRL is available on the Genomics England website.
The NGRL consent process will be explained by the NIHR BioResource – Rare Diseases study team when a hospital is set up to recruit to this study.
PLEASE NOTE – The NGRL has been approved by a research ethics committee (20/EE/0035) as a research tissue bank which means that individual site R&D approval is not required
IMPORTANT
Once a new patient has been recruited to the NIHR BioResource – Rare Diseases and the NGRL clinical and phenotype information needs to be submitted using the Phenotype Capture Tool. WGS will only be instigated for patients where this information has been provided because it is necessary for the accurate interpretation of genomic data.
