Challenges for the Practitioner in using Biomarkers and Genetics in Clinical Diagnosis and Treatment of Alzheimer's Disease

Abstract

The underdiagnoses of cognitive impairment and dementia are well documented and when the diagnosis is made it is often late in the disease course. These facts have serious consequences highlighted by the recent approval of the monoclonal antibodies for amyloid treatment for Alzheimer’s disease. The slow uptake and even serious pushback from many stakeholders may reflect their equipoise about early and accurate detection of dementia let alone its specific etiology. The Genetic marker, Apolipoprotein ε4, good clinical acumen, and biomarkers for amyloid and tau, can provide confidence in an Alzheimer’s disease diagnosis even at the mildest stages. Low utilization of these biomarkers highlights the limited knowledge of dementia care providers around mechanisms of disease and pharmacologic action. The use of biomarkers can provide confidence in clinical assessment and diagnosis, selection of agents, and assessment of safety. Disease staging using both clinical evaluation and biomarkers may soon be required to select interventions fully. Designing trials that use recognized methods for subject selection and include a wider range of outcomes, measures of patient satisfaction, and costs may improve the utilization of approved medications. Additionally, education about targeted pathologies, molecular diagnoses, and measurement of benefits can be developed for both the provider and the patient population. The presentation will highlight challenges for the practitioner in translating the clinical trial results to real-life patient populations.