Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation.

Journal of Medical Genetics
Lauren M CairnsAndrew G L Douglas

Abstract

Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype and variants of uncertain significance. Affected patients and unaffected relatives are commonly referred to clinical genetics to consider genetic testing. However, no consensus exists regarding how such genetic testing should best be undertaken and on which patients. We sought to ascertain UK clinical genetics testing practice in MND/FTD referrals, with the aim of helping inform guideline development. MND/FTD clinical genetics referrals comprising both affected patients and unaffected relatives between 2012 and 2016 were identified and a standardised proforma used to collate data from clinical records. 301 referrals (70 affected, 231 unaffected) were reviewed across 10 genetics centres. Previously identified familial variants were known in 107 cases and 58% subsequently underwent testing (8 of 8 diagnostic and 54 of 99 predictive). The median number of genetic counselling appointments was 2 for diagnostic and 4 for predictive testing. Importantly, application of current UK Genomic Test Directory eligibility criteria wo...Continue Reading

References

Mar 15, 2006·Archives of Neurology·Gregory A RipponYaakov Stern
Nov 5, 2010·Journal of Neurology, Neurosurgery, and Psychiatry·Susan ByrneOrla Hardiman
Aug 16, 2011·Brain : a Journal of Neurology·James R BurrellJohn R Hodges
May 31, 2012·Clinical Genetics·R MacLeodUNKNOWN Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network
Jun 6, 2012·Nature Reviews. Nephrology·Ming-Chang Hu, Orson W Moe
Apr 25, 2013·International Review of Psychiatry·Chiadi U Onyike, Janine Diehl-Schmid
Jul 9, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Adriano ChiòAntonella Surbone
Dec 27, 2013·Nature Neuroscience·Alan E RentonBryan J Traynor
May 18, 2016·International Journal of Epidemiology·Benoît MarinEttore Beghi
Nov 24, 2016·Current Neurology and Neuroscience Reports·Diana A OlszewskaTim Lynch
May 20, 2017·Scientific Reports·Natalie A MurphyBryan J Traynor
May 30, 2017·Lancet·Michael A van EsLeonard H van den Berg
Jun 24, 2017·Journal of Neurology, Neurosurgery, and Psychiatry·Martin R TurnerKevin Talbot
Oct 6, 2017·Nature Reviews. Disease Primers·Orla HardimanLeonard H van den Berg
Feb 27, 2018·Handbook of Clinical Neurology·Jessica Deleon, Bruce L Miller

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