Optimal clinical pathway for adults: neurogenetics

Genomics has been identified as a priority in the NHS Long Term Plan the NHS People Plan (2019) and the Topol Review (2019).

Neurology has the largest number of adult-onset genetic conditions when compared to other specialties.

Download the optimal clinical pathway for neurogenetics here.

• Diagnostic testing for genetic conditions should be undertaken in by clinicians in neurology/ neurogenetics/ psychiatry clinics who have the appropriate knowledge and training.

• For more common neurogenetic conditions e.g. CMT1A, HNPP, CADASIL, particularly where whole genome sequencing is not required, and the phenotype is clear, clinicians should consider requesting genetic tests rather than simply referring straight to a specialist service for diagnostic testing.

• Appropriate time should be allocated in clinics for consenting patients, and attendance at relevant MDTs should be job planned and renumerated.

• Predictive testing should be undertaken by clinical genetics services.

• Patients should be counselled as to potential implications of test results for themselves, family members and likely time to receiving result (weeks - months).

• Consent for genetic testing and enrolling in the National Genomic Research Library should be documented in the medical notes.

• Support for consenting patients should be provided e.g. through recruitment of genetic counsellors/ specialist nurses/ genomic practitioners, and development of video-consenting clinics.

• Where whole genomic sequencing is undertaken, record of discussion forms need to be completed and uploaded as part of the patient record.

• Clinicians requesting tests should have access to a multi-disciplinary MDT where test results can be discussed with neurogenetics specialists, laboratory scientists and bioinformatics experts.

• The National Genomics Research Library and enhanced bioinformatics expertise should foster research and development on a local and national scale to improve diagnosis and treatment of genetic conditions.

Download the optimal clinical pathway here.