Genomics Associate Team Update

Our Genomics Associate team work closely with teams across the North Thames region to assist with consenting patients and families for rare disease whole genome sequencing.  

Unfortunately, we are currently working through some staffing pressures within our GA team. At present there will be a delay of at least 8-10 weeks before the team can contact patients to arrange a non-urgent WGS consent appointment. These delays are expected to continue until January 2027, when we anticipate the GA team will return to full capacity. 

If you would still like to use the GA service, please send all referrals requiring WGS consent to:  gos-tr.ntgenomicsassociate@nhs.net with the following information.  

Information required within the referral: 

1. WGS Test Order Form (TOF) WGS Test Order Form (TOF).

• Must be fully completed by the referring clinician with a clear explanation of how the patient meets the eligibility criteria, e.g. moderate, severe or profound learning disability/developmental delay and the clinical utility of WGS clearly documented on TOF.  

• Clearly state if the referral is urgent and whether for a singleton, duo or trio. 

• At least one HPO terms for proband and whether these are present/absent in parents, include relevant terms for parents where appropriate. 

2. Family information – to be included in the referral email

• Patient/Parent details & contact information. 

• If the referral is clinically urgent, please clearly state the reason for clinical urgency on both the TOF and the referral email. 

• Include any relevant safeguarding information, including: 

• Parental responsibility. 

• Protected addresses. 

• Any other information that may affect contact with the family. 

Please note that GAs will not have access to all of this information, so it is important that it is included within the referral email. 

3. Accessibility and communication requirements – to be included in the referral email

• Is a translator/interpreter required? 

• Is telephone contact an appropriate/preferred method of communication? 

• Are there any other accessibility or communication requirements that the GA team should be aware of?