Moving beyond disclosure: Stages of care in preclinical Alzheimer's disease biomarker testing

Abstract

Alzheimer's disease (AD) begins with an asymptomatic “preclinical” phase, in which abnormal biomarkers indicate risk for developing cognitive impairment. Biomarker information is increasingly being disclosed in research settings, and is moving toward clinical settings with the development of cheaper and non‐invasive testing. Limited research has focused on the safety and psychological effects of disclosing biomarker results to cognitively unimpaired adults. However, less is known about how to ensure equitable access and robust counseling for decision‐making before testing, and how to effectively provide long‐term follow‐up and risk management after testing. Using the framework of Huntington's disease, which is based on extensive experience with disclosing and managing risk for a progressive neurodegenerative condition, this article proposes a conceptual model of pre‐disclosure, disclosure, and post‐disclosure phases for AD biomarker testing. Addressing research questions in each phase will facilitate the transition of biomarker testing into clinical practice.

Biomarkers of aging

“…In this context, the clinical validity of aging biomarkers is often questioned. On the one hand, environmental differences between preclinical studies and clinical trials of aging biomarkers (Porteri et al, 2017), such as differences in motivation, risk tolerance and psychological performance of participants/subjects, make it possible that their results may differ (Ketchum et al, 2022), and their clinical effectiveness needs further demonstration. On the other hand, the clinical application requires evidence of clinical efficacy and safety of aging biomarkers and relevant criteria.…”

“…Larger and more diverse cohort studies are urgently needed to obtain more generalized safety and prognostic evidence. Moreover, the lack of ongoing risk follow-up has led to limited data on the associated risks, making it more difficult to analyze their efficacy and safety (Ketchum et al, 2022). The lack of effective corresponding treatments or precise prognostic assessments of aging biomarkers in the clinical setting also makes it more difficult to verify their clinical effectiveness (Bunnik et al, 2018).…”

“…Issues such as these are difficult to solve. In fact, current aging biomarkers studies and their clinical trials often have different recruitment sources (Ketchum et al, 2022), but there are differences in target populations, such as those with a family history of age-related diseases versus the general population (Gooblar et al, 2015), people of color versus whites (Wikler et al, 2013), and disadvantaged groups. It is equally difficult to consider the principle of diverse recruitment to ensure fair and equitable recruitment to aging biomarkers research and its clinical trials.…”

Perspectives From Black and White Participants and Care Partners on Return of Amyloid and Tau PET Imaging and Other Research Results

“…Translation from the lab to the clinic is forthcoming. Although more consideration is needed before biomarker testing is implemented in primary care, 13 specialists report that biomarker testing is useful for diagnostic clarification, 14,15 impacts clinical management, 16 and does not negatively impact patient mental health-provider or patient-provider rapport 15 …”

“…12 Translation from the lab to the clinic is forthcoming. Although more consideration is needed before biomarker testing is implemented in primary care, 13 specialists report that biomarker testing is useful for diagnostic clarification, 14,15 impacts clinical management, 16 and does not negatively impact patient mental health-provider or patient-provider rapport. 15 Despite the growing evidence in the support of disclosure, the development of practice standards or protocols for returning AD biomarker results has lagged behind the implementation of biomarker testing.…”