Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service.
J Med Genet
; 61(7): 661-665, 2024 Jun 20.
Article
in En
| MEDLINE
| ID: mdl-38458755
ABSTRACT
All people with motor neuron disease (pwMND) in England are eligible for genome sequencing (GS), with panel-based testing. With the advent of genetically targeted MND treatments, and increasing demand for GS, it is important that clinicians have the knowledge and skills to support pwMND in making informed decisions around GS. We undertook an online survey of clinical genomic knowledge and genetic counselling skills in English clinicians who see pwMND. There were 245 respondents to the survey (160 neurology clinicians and 85 genetic clinicians). Neurology clinicians reported multiple, overlapping barriers to offering pwMND GS. Lack of time to discuss GS in clinic and lack of training in genetics were reported. Neurology clinicians scored significantly less well on self-rated genomic knowledge and genetic counselling skills than genetic clinicians. The majority of neurology clinicians reported that they do not have adequate educational or patient information resources to support GS discussions. We identify low levels of genomic knowledge and skills in the neurology workforce. This may impede access to GS and precision medicine for pwMND.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Motor Neuron Disease
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Europa
Language:
En
Journal:
J Med Genet
Year:
2024
Document type:
Article
Affiliation country:
United kingdom