Protecting Progress: Communicating and Using Dementia Risk Evidence

by Allyson Rosen, PhD, ABPP-CN on 29 November 2022

A transformation in our understanding of dementia is happening through advances in biomarkers, genetics, and other data used as dementia risk evidence (DRE) promising a future for precision dementia care. These data are increasingly informing clinical diagnosis and management; however, advances are also revealing ethical and legal gaps and practical questions about how to use and communicate these data. Investigators often use DRE in research. When participants ask for their personal results, investigators have concerns. Will data that was intended to study groups be valid for individuals? Will sharing data cause distress? Debates around sharing DRE became heated when blood-based amyloid tests and amyloid reducing drugs appeared poised to enable clinicians easily to identify people with elevated brain amyloid and reduce it with a drug. Such an approach would transform the traditional role of genetic and biomarker-based DRE from investigational to foundational; however, then the high costs, uncertain clinical benefits and risks of the therapy led to an urgent need for education to support clinical decision making. Further complicating DRE use are direct to consumer genetic testing and increasingly available biomarker testing. Withholding DRE becomes less feasible and public education around responsible use and understanding become vital. A critical answer to these legal and ethical issues is supporting education that clearly delineates known risks, benefits, and gaps in knowledge, and provides communication to promote understanding among researchers, clinicians, patients, and all stakeholders. The purpose of this mini forum is to explain issues relevant to dementia. Contributors include relevant submissions to our Ethics Review and from the Advisory Group on Risk Evidence Education for Dementia (AGREEDementia.org).

Give us your opinion by commenting below!
Would you want your dementia-related biomarkers/genetics?
Would you want your results in your medical record?
Should researchers share all data with participants if they are asked?

What questions have we missed?
For more discussion, join AGREEDementia.org!

Papers in the Mini-Forum
The introduction to the Mini-Forum [1] provides an overview and describes general concepts and resource documents that support more informed discussions for individuals and interdisciplinary groups. The first contribution is a proposed “Bill of Rights”, from people living with and at risk for dementia and stakeholder organizations advocating increased sharing of individual level results [2]. Next, we describe the structure of a multidisciplinary, working group that is open to all and which promotes ongoing discussion about best practices (AGREEDementia.org) [3]. There are next several papers on issues related to using and understanding blood-based biomarkers including describing best practices [4], and in potentially improving diagnosis in diverse people in low and middle income countries [5]. Two papers describe how validating biomarkers through the study of biomarker-cognitive associations is enhanced by innovative approaches to analyses [6] and by neuroscience-informed cognitive measures [7]. There is also a public health-related discussion around the ethics of resource allocation based on dementia risk [8]. Several other papers discuss how DRE is understood and represented to clinicians and consumers. Two papers discuss how DRE is represented in the medical record, one stressing the importance of placing DRE in context to avoid misunderstanding by clinicians [9] and one on how people choose direct to consumer testing to avoid having DRE in their medical record [10]. One paper describes an approach to enriching understanding of stakeholders and research participants through involving them in research conferences [11]. Another paper describes a survey of perspectives of frontline health providers, geriatricians, toward APOE genetic testing [12]. Finally, biomarker testing is typically in people with symptoms but there are two papers focused on issues related to using and sharing DRE in people without symptoms in research. One paper describes the benefit of involving partners in longitudinal studies of people with intact cognition to ensure wishes are respected after disease progression [13]. A final paper provides guidance in what to tell participants about DRE as effective therapies become available [14].