RT Journal Article
SR Electronic
T1 Genetic screening in sporadic ALS and FTD
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 1042
OP 1044
DO 10.1136/jnnp-2017-315995
VO 88
IS 12
A1 Martin R Turner
A1 Ammar Al-Chalabi
A1 Adriano Chio
A1 Orla Hardiman
A1 Matthew C Kiernan
A1 Jonathan D Rohrer
A1 James Rowe
A1 William Seeley
A1 Kevin Talbot
YR 2017
UL http://jnnp.bmj.com/content/88/12/1042.abstract
AB The increasing complexity of the genetic landscape in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) presents a significant resource and physician training challenge. At least 10% of those diagnosed with ALS or FTD are known to carry an autosomal dominant genetic mutation. There is no consensus on what constitutes a positive family history, and ascertainment is unreliable for many reasons. However, symptomatic individuals often wish to understand as much as possible about the cause of their disease, and to share this knowledge with their family. While the right of an individual not to know is a key aspect of patient autonomy, and despite the absence of definitive therapy, many newly diagnosed individuals are likely to elect for genetic testing if offered. It is incumbent on the practitioner to ensure that they are adequately informed, counselled and supported in this decision.