Confirmation of research result

If there is a pertinent finding* (PF) that can explain the study participant’s clinical phenotype, a Multi-Disciplinary Team (MDT) meeting will be held to discuss this finding, and if the participant has consented to PF feedback, a Research Report Summary will be issued to the participant’s recruiting clinician.

On receipt of the Research Report Summary the level of your participants’ consent should be checked.

The UK study ethics stipulate that confirmation testing on the reported variant(s) is required, before feedback to participants. Therefore a fresh sample should be taken and DNA extracted in a CPA accredited laboratory before genetic validation of the variant(s) in a CPA-accredited laboratory. If you would like this confirmation to be performed at the East Anglian Medical Genetics Service, please download and fill in the referral form below.

If you prefer to use a different CPA accredited laboratory, please ensure that a copy of the clinical report is sent to the project study coordinator as soon as it is received by you.

*Pertinent genetic Findings in this context are defined as Class 4 and Class 5 variants in a Tier 1 gene that explain the participants’ clinical phenotype and the reason for which the participant was recruited to the study.

Download Referral form here