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100,000 Genomes Project recruitment for paediatricians


This is for a ‘trio’ family structure, with affected child and unaffected parents. If family structure differs, please contact us for advice.

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:

Intellectual disability; Congenital Heart Disease; Congenital anaemias; Non-syndromic hearing loss; Craniosynosotosis syndromes.

Step 2: Discuss with the family in clinic or by telephone

  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 (this is non-negotiable)
  5. *Important*:Please enquire about likely ease or difficulty of obtaining blood samples from the child, and let the project office know response.

Step 3: Notify GMC office (Steve Johnson, Project Manager)

Please email the following information to: rde-tr.GMC@nhs.net

  1. Name and NHS number of affected individual, or name and date of birth
  2. Names and dates of birth of other individuals who would be recruited (typically the parents)
  3. The diagnostic category (Intellectual disability etc)
  4. 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 4: 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.GMC@nhs.net T: 01392 408177 (Project office)