Mainstreaming Rare Disease

Mainstreaming rare disease

NHS England funds genetic (and genomic) testing to patients who have a suspected genetic condition and meet the eligibility criteria. The National Genomic Test Directory outlines what tests are available, which patients are eligible and who can order these tests (see relevant PDF document): 

If you are looking to request a diagnostic genomic test for your patient, you can check on the directory whether your patient is eligible and if your speciality is on the list of approved clinicians to order the test. Predictive (pre-symptomatic) testing should be referred to Clinical Genetics team.

It is the responsibility of the clinician to have a consent conversation with the patient when discussing genetic testing. This needs to consider the reason for testing, possible outcomes, data storage and privacy, and implications for the patient and their relatives.  There is online training available to help support clinicians to develop their skills in having a consent discussion.

If you are requesting Whole Genome sequencing (WGS) then mandatory training should be completed before doing so:


The Clinical Genetics team are happy to offer bespoke training and education to clinicians and their teams around how to request genetic testing. Please contact us via email on and let us know your training requirements.

Other useful resources

If your patient is diagnosed with a genetic condition after genetic testing, or they have a result of uncertain significance, they can be referred to the clinical genetics service for further discussion and support. If you are uncertain what tests to order, you can contact our team or refer the patient to our service (see ‘how to refer’).

The clinical genetics service continues to provide support for relatives once a genetic diagnosis has been made in a family, and this includes discussion of reproductive options (including prenatal testing and pre-implantation genetic diagnosis), cascade testing for carrier status in relatives and pre-symptomatic (predictive) genetic testing.

If you require further support or resources, please contact us.