100,000 Genomes Project recruitment for renal physicians
Step 1: Check eligibility
A
comprehensive
list
of
eligibility
criteria
is
http://www.genomicsengland.co.uk/library-and-resources/
available
via
the
link
below:
(See under “Eligibility statements”/”Rare disease eligibility statements”
Some examples of eligible disorders:

CAKUT; cystic kidney disease; familial haematuria; proteinuric renal disease; extreme early
onset hypertension
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 are needed from the affected individual and unaffected parent(s) or
other affected family members (see family structure, below)
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 (nonnegotiable)
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
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: rde-tr.GMC@nhs.net
1. NHS number of affected child, or name and date of birth
2. The diagnostic category (Intellectual disability etc)
3. An email address (preferred but 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 available!
Please contact us if you have any questions about any aspect of the project:
charles.shaw-smith@nhs.net
T: 01392 405737
sian.ellard@nhs.net
T: 01392 408259
rde-tr.GMC@nhs.net
T: 01392 408177 (Project office)