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Genetic testing in dementia
  1. Antoinette O'Connor1,2,
  2. Natalie S Ryan3,4,
  3. Christopher R S Belder3,5,
  4. David S Lynch6,
  5. Nayana Lahiri7,
  6. Henry Houlden6,
  7. Jonathan D Rohrer3,4,
  8. Nick C Fox3,4,
  9. Sean O'Dowd1,8,9
  1. 1Department of Neurology, Tallaght University Hospital, Dublin, Ireland
  2. 2Tallaght Institute of Memory and Cognition, Tallaght University Hospital, Dublin, Ireland
  3. 3Dementia Research Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK
  4. 4UK Dementia Research Institute at UCL, London, UK
  5. 5The University of Adelaide, Adelaide, South Australia, Australia
  6. 6Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and National Hospital for Neurology & Neurosurgery, London, UK
  7. 7St. George’s, University of London & St George’s University Hospitals NHS Foundation Trust, Cardiovascular and Genomics Institute, London, UK
  8. 8Academic Unit of Neurology, Trinity College Dublin, Dublin, Ireland
  9. 9National Dementia Services, Health Services Executive, Ireland
  1. Correspondence to Dr Antoinette O'Connor; aoconno6{at}tcd.ie

Abstract

There is growing public awareness and concern regarding dementia risk. In addition, genetic testing is increasingly accessible and is at the point of being integrated into routine clinical practice. As a result, there is a pressing need for treating clinicians to have the appropriate knowledge base to request and consent for diagnostic genetic testing in cognitive clinics. We outline our approach to genetic testing in patients with Alzheimer’s disease, frontotemporal dementia, dementia with Lewy bodies and vascular cognitive impairment. We discuss when to consider testing, the consenting process, and the interpretation and communication of genetic test results.

  • ALZHEIMER-S DISEASE
  • DEMENTIA
  • GENETICS

Data availability statement

No data are available.

https://doi.org/10.1136/pn-2024-004241

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    Data availability statement

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    Footnotes

    • X @ftdtalk

    • Contributors AOC and SOD conceived of and drafted the main manuscript. All authors contributed significantly to the content of the manuscript and reviewed the drafts and provided feedback.

    • Funding The Dementia Research Centre is supported by Alzheimer's Research UK, Brain Research UK and the Wolfson Foundation. JDR acknowledges funding from the Bluefied project, the Alzheimer's Associaton, a Miriam Marks Brain Research UK Senior Fellowship, Medical Research Council Clinician Scientist Fellowship (MR/M008525/1) and the NIHR Rare Disease Translational Research Collaboration (grant BRC149/NS/MH). NSR is supported by the UK Dementia Research Institute at UCL (award numbers UKDRI-1010 and UKDRI-1014) through UK DRI Ltd, principally funded by the UK Medical Research Council, and by the NIHR Biomedical Research Centre at UCLH. CRSB acknowledges support from The Hospital Research Foundation. DSL is supported by the UCLH NIHR Biomedical Research Centre. HH acknowledged previous support from the MRC (MR/S005021/1), Global Parkinson's Genetic Programme (GP2), The Michael J. Fox Foundation (MJFF) (grant MJFF-022153) and EU Horizon 2020 (grant grant agreement No 779257). NF acknowledges support from the Alzheimer’s Society, Alzheimer’s Research UK, Dementia Research UK, the NIHR University College London Hospitals Biomedical Research Centre and the UK Dementia Research Institute.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; externally peer reviewed by Matthew Kiernan, Sydney, Australia.

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