Eligibility statements


The eligibility statements provide guidance to recruiting clinicians across England about the patients most likely to benefit from the opportunity of diagnostic whole genome sequencing and who are therefore eligible for recruitment into the Genomics England Rare Diseases Programme.

For each disease in the approved conditions list an “eligibility statement” is provided composed of the following key information:

  1. Inclusion criteria – the clinical features, characteristics or investigations that probands with a given disease must have in order to be eligible for recruitment.
  2. Exclusion criteria – the clinical features, characteristics or investigation findings that participants with a given disease must not have in order to be eligible for recruitment.
  3. Prior genetic testing – this sets out both in general terms, and where appropriate more specifically, the genetic testing which participants with a given disease must have performed prior to recruitment.

The eligibility statements will be continuously reviewed and developed over time in light of new discoveries and changes in clinical practice.

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