As disease-modifying drugs are crucially missing from the pipeline of treatments available for people with Alzheimer’s disease (AD) or related disorders, physicians, scientists, and public health experts are promoting the concept of early diagnosis. This concept often means “the earliest possible diagnosis”. This refers to the detection of cognitive disorders in primary care and to the triggering of a complex etiological diagnosis process often including extensive neuropsychological testing, structural and metabolic neuroimaging, as well as CSF biomarkers. Nevertheless, general practitioners do not always see the necessity of early and complex diagnosis processes since no curative/disease-modifying drug is available. The diagnosis is then often made late in the disease process. This may be related to the feeling by primary care physicians of a “paradoxical order” targeting an early diagnosis made available for everyone, dealing with a risk of stigmatization of the patient/caregiver dyad, and a risk of increased anxiety or depression, as well as high financial and time costs, yet with no treatment available.
At a time of high efficiency in clinical, biological, and neuroimaging diagnosis markers, it appears urgent and crucial to better disentangle, on the one hand, the reasons for defending an earlier diagnosis, and, on the other hand, the diagnosis pathways that should be adapted to the personal needs and will of the patient. The recent European Joint Action ALCOVE (Alzheimer Cooperative Valuation in Europe - www.alcove-project.eu) has defended the concept of “timely” diagnosis of dementia that implies earlier diagnosis as compared to what is currently provided in Europe. This interesting concept fits with the needs and the will of the patient and diagnosis processes including biomarkers of underlying lesions. Nevertheless, from a public health point of view, the ALCOVE recommendations did not reach the stage of an etiological diagnosis at the mild cognitive impairment (MCI) stage. But (almost) every AD specialist agrees with the facts that care pathways increase the quality of life of both the patients and caregivers, that advance directives are needed when the patient is still able to consider his future, and that access to research, especially to disease-modifying drug trials, is crucial at the MCI stage of the disease.
We should now clearly share with primary care professionals the new ethical issues provided by the existence of efficient diagnostic lesion markers at the pre-dementia stages of the disease, the access to early disease stage care pathways, advanced care planning, and the information regarding research, especially clinical trials. We should clarify the diagnosis processes that must be individualized and adapted to the will of the patient/caregiver dyad and tailored to their needs based on cognitive, behavioral, and functional stages of the disease. These issues will be specifically considered by the new European Joint Action on neurocognitive disorders, as well as through the current French national plan on Neurodegenerative Diseases, including working specifically with the French National ethical committee dedicated to the neurodegenerative diseases.