Everyone with MND in England is now eligible for a test to see if their MND is linked to their genes, i.e. genome sequencing. We surveyed 245 neurology and genetics clinicians about their genetic knowledge, experience and training. Neurology clinicians reported multiple barriers to offering genome sequencing. Further, they rated their confidence in genetics knowledge and genetic counselling skills lower than the genetics workforce. The majority of clinicians did not feel they had adequate resources when discussing genome sequencing with families. Therefore, there is a need for more streamlined processes around genome sequencing; clinician training; and resources supporting shared decision-making. (By Dr. Jade Howard, https://jmg.bmj.com/content/early/2024/03/08/jmg-2023-109735 )
Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service
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