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100,000 Genomes Project recruitment for Immunologists

Step 1: Check eligibility

A comprehensive list of eligibility criteria is available via the link below:

(Scroll to bottom of this page and click on “Eligibility statements” under the subheading “Science”, then click on the disorder name in the index to access the statement).

Step 2: Discuss with the family in clinic/by phone

  1. Purpose of study is to try to obtain a molecular genetic diagnosis [NB there must be a diagnostic question]
  2. Blood samples will be needed from affected family members, and potentially unaffected parents
  3. Family members will be offered opportunity to consent to ‘secondary’ findings
  4. Data will be made available in anonymized form to research/commercial bodies (non-negotiable)
  5. *Important*:Please enquire about likely ease or difficulty of obtaining blood samples from child(ren) if involved, and let the project office know response.

Step 3: Family structure

Important- is this:

  1. Single case with no other affected family members? – recruit affected proband plus both unaffected parents, or as a duo if a trio is not possible.
  2. Dominant/recessive/X-linked with >1 affected family member?
  3. If (2) above, please let us know how many family members could be recruited (up to 4) and geographical location of these additional individuals.

Step 4: Notify GMC office (Steve Johnson, Project Manager)

Please email the following information to:

  1. NHS number of affected individual, or name and date of birth
  2. Names, dates of birth and addresses of other family members who should be recruited (see step 3 above)
  3. The diagnostic category
  4. An email address (much preferred though not essential) or postal address for the family

The project office will then contact family re consent/sampling appointment.

Step 5: Clinical data entry

Once the consent/sampling process has been completed, the recruiting consultant will be asked to complete an online phenotype data entry form. (Help with this will be available).

Please contact us if you have any questions about any aspect of the project: T: 01392 405737 T: 01392 408259 T: 01392 408177 (Project office)