We still need to understand how disclosure of a positive biomarker test for Alzheimer’s disease to cognitively normal older adults impacts on a person’s mood, health, lifestyle, family and social aspects. In this symposium held at the 11th CTAD congress, the three speakers presented preliminary findings of ongoing research to determine how biomarker knowledge impacts on cognitive signs and symptoms, time perception, health and lifestyle behaviors, and relationships, and how genetic counselling can provide support.
The SOKRATES study of knowledge and reactions to amyloid positron emission tomography (PET) testing will go some way to address the knowledge gap, said Jason Karlawish, University of Pennsylvania, Philadelphia, PA, USA, while presenting preliminary findings. The SOKRATES study recruited participants from the ongoing anti-amyloid in asymptomatic Alzheimer’s (A4) trial1 and has sought to find out how amyloid biomarker knowledge impacts on cognitive symptoms, feelings about the future, planning for the future and sharing of the result.
‘Not just a colonoscopy’
Two-thirds of people with a positive amyloid PET test (33/50) found the sharing of the result to be different to sharing of other medical information for the reasons that Alzheimer’s disease: is a significant diagnosis, is emotionally fraught, has social consequences with impact on family, has a stigma attached, and there are currently no treatments.
The sharing of positive biomarker results for Alzheimer’s disease is different to the sharing of other medical information for the reasons that it: is a significant diagnosis, is emotionally fraught, has social consequences with impact on family, and has a stigma attached.
For some people, knowledge of a positive amyloid PET result confirmed symptoms they had been experiencing and made them more aware of them. On learning of the positive amyloid PET result, people had mixed feelings about the future, which included: an awareness of limited remaining time, the future is unknown but feeling hopeful, and remaining focused on the present. Around 50% of people were considering changing or reassessing plans in light of the positive test result, which included financial and legal planning, housing, leisure time and activities.
Dual disclosure of APOE and amyloid PET results
Dr Luisa Thompson, Warren Alpert Medical School of Brown University, Providence, RI, USA discussed the impact of biomarker disclosure on participants in the Butler Memory and Aging program and Alzheimer’s disease Prevention Registry. Knowledge of apolipoprotein E (APOE) status did not affect mood of participants (aged 58 to 78 years; n=57), with no change in depression or anxiety, and did lead to an initial change in healthy diet and lifestyle behaviour although this was not maintained at the 6-month follow-up.
In preliminary findings of a dual disclosure study of APOE status and amyloid PET test, participants were glad that they had learned both test results, even when they felt there had been some drawbacks, including raising concerns about memory changes, impact on family, and lack of control over the disease. Participants were more likely to share both amyloid PET and APOE results when they were amyloid PET negative.
Genetic counselling in Alzheimer’s disease
Genetic counselling can help people to understand and adapt to the medical, psychological and familial implications of the genetic contributions to disease.2,3 Elisabeth McCarty Wood, University of Pennsylvania, Philadelphia, PA, USA discussed the role of genetic counselling in the Generation study, part of the Alzheimer’s Prevention Initiative (API).4 APOE genotype is assessed in cognitively unimpaired persons (aged 60-75 years) and disclosed during the screening phase.
Genetic counselling can help people to understand and adapt to the medical, psychological and familial implications of biomarker disclosure in Alzheimer’s disease
There are limited genetic counselling resources globally, and the delivery of genetic consultations via telephone and videoconferencing are valid and effective ways to educate, evaluate and support patients.5 Preliminary results show that genetic counselling in the Telegenetics in Generation sub-study (Connect 4) has generated positive feedback from study participants. Genetic counselling was delivered in a single session lasting 60 minutes on average, covering a range of needs and perspectives, which could be sensitive and adaptive to deliver highly personalised counselling.