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100,000 Genomes Project recruitment for endocrinologists


Step 1: Check eligibility

A comprehensive list of eligibility criteria is available via the link below: http://www.genomicsengland.co.uk/library-and-resources/.

(See under “Eligibility statements”/”Rare disease eligibility statements”

Some examples of eligible disorders: Multiple endocrine tumours; Familial/syndromic hypoparatyhyroidism; Subtypes of diabetes.

Step 2: Discuss with the family in clinic

  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
  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

  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.SWGMC@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. This will include growth parameters, systems examination and dysmorphology. (Help with this will be 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.SWGMC@nhs.net T: 01392 408177 (Project office)