Clinical experience with polygenic risk score in subjects with early cognitive concerns

Justin Sauer, Clive Ballard, Alex Gibson, Paula Daunt, Richard Pither

    Research output: Contribution to journalMeeting abstractpeer-review

    1 Citation (Scopus)


    BACKGROUND: There is mounting evidence that lifestyle interventions and behavioural changes play a significant role in maintaining cognition and function, as well as preventing dementia. Consequently, it is important that clinicians confronted with subjects with early cognitive concerns, have appropriate tools available to assist in diagnosis and to facilitate risks management appropriately. The application of polygenic risk score (PRS) tests has the potential to contribute towards management planning and to reduce the burden of testing in subjects with low overall risk. METHODS: This retrospective analysis considered the application of genoSCORETM in a small cohort of patients seen over a six month period in a London Memory Clinic. The test was offered to selected patients in the clinic with MCI not clinically attributable to dementia, or cognitively normal individuals concerned about their risks of dementia. The impact upon clinical management and lifestyle modification was reviewed. genoSCORE, a polygenic risk score algorithm, was developed by Cytox to assess genetic risk for the future development of Late-Onset Alzheimer's disease (LOAD). RESULTS: Patients receiving the genoSCORE test included those with early MCI, subjective memory complaints and a small number concerned about their risk of dementia. In each case, a medical history was taken and individuals assessed using the Addenbrooke's Cognitive Examination, conducted either in clinic or remotely. genoSCORE polygenic risk score was easy to conduct and well received. The results stimulated individuals at risk of developing LOAD to make lifestyle adjustments and thereby potentially modifying their dementia risk. CONCLUSIONS: In this study, the genoSCORE PRS test provided a valuable assessment of genetic risk of individuals most likely to decline cognitively decline towards AD and as such, contributed significantly to clinical management decisions. The ease and effectiveness of home sampling of saliva as source DNA for the PRS test was a major factor and well aligned with the continuing need for remote consultations in the light of COVID-19 concerns. Further larger-scale studies to determine the full clinical and associated economic impact of the genoSCORE PRS test are required.

    Original languageEnglish
    Pages (from-to)e053509
    JournalAlzheimer's & dementia : the journal of the Alzheimer's Association
    Publication statusPublished - 1 Dec 2021


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