Abstract:Growing evidence suggests dementia incidence can be reduced through prevention programs targeting risk factors. To accelerate the implementation of such prevention programs, a new generation of brain health services (BHS) is envisioned, involving risk profiling, risk communication, risk reduction, and cognitive enhancement. The purpose of risk communication is to enable individuals at risk to make informed decisions and take action to protect themselves and is thus a crucial step in tailored prevention strateg… Show more
“…Within the context of clinical trial enrolment, risk disclosure is embedded in the research protocol, as already outlined. In the clinical context, while keeping in mind that AD susceptibility genetic testing is currently not recommended, evidence-based risk communication strategies aimed at personalised risk reduction are under development [ 6 , 79 ].…”
Alzheimer’s disease (AD) is a genetically complex disorder. In addition to the relatively small number of pathogenic variants causing autosomal dominant AD, many others have been associated with the much more common sporadic form. The E4 allele of the Apolipoprotein E (APOE) is the first discovered genetic risk factor for AD. In addition, more than 70 genetic risk loci contributing to AD have been identified. Current guidelines do not recommend AD susceptibility genetic testing in cognitively healthy adults because the implications for clinical care are limited. However, secondary prevention clinical trials of disease-modifying therapies enrol individuals based on genetic criteria, and participants are often informed of APOE testing results. Moreover, the availability of direct-to-consumer genetic testing allows individuals to learn their own AD genetic risk profile without medical supervision. A number of research protocols for AD susceptibility genetic testing have been proposed. In Italy, disclosure processes and protocols beyond those developed for inherited dementia have not been established yet. We reviewed the literature on the current practice and clinical issues related to disclosing AD genetic risk to cognitively healthy individuals and provide suggestions that may help to develop specific guidelines at the national level.
“…Within the context of clinical trial enrolment, risk disclosure is embedded in the research protocol, as already outlined. In the clinical context, while keeping in mind that AD susceptibility genetic testing is currently not recommended, evidence-based risk communication strategies aimed at personalised risk reduction are under development [ 6 , 79 ].…”
Alzheimer’s disease (AD) is a genetically complex disorder. In addition to the relatively small number of pathogenic variants causing autosomal dominant AD, many others have been associated with the much more common sporadic form. The E4 allele of the Apolipoprotein E (APOE) is the first discovered genetic risk factor for AD. In addition, more than 70 genetic risk loci contributing to AD have been identified. Current guidelines do not recommend AD susceptibility genetic testing in cognitively healthy adults because the implications for clinical care are limited. However, secondary prevention clinical trials of disease-modifying therapies enrol individuals based on genetic criteria, and participants are often informed of APOE testing results. Moreover, the availability of direct-to-consumer genetic testing allows individuals to learn their own AD genetic risk profile without medical supervision. A number of research protocols for AD susceptibility genetic testing have been proposed. In Italy, disclosure processes and protocols beyond those developed for inherited dementia have not been established yet. We reviewed the literature on the current practice and clinical issues related to disclosing AD genetic risk to cognitively healthy individuals and provide suggestions that may help to develop specific guidelines at the national level.
“…These findings resonate with previous research that identified finding the “right time” as a major challenge to engaging in advance care planning among persons with dementia [ 14 , 16 – 19 ]. The nature of amyloid PET scan results disclosure discussions may have varied widely across participating sites’ routine practices and has not been studied extensively to date [ 35 ], highlighting the uncertainty as to how advance care planning discussions can be or are integrated into clinical practice. Grappling with the looming threat of diminishing capacity is a distinguishing feature of advance care planning for persons with dementia that was also pervasive in our data [ 13 ].…”
Background
Little research exists on the role of β-amyloid PET scans as part of Alzheimer’s diagnostic tests and documentation of end-of-life preferences for persons with cognitive impairment. The study objectives were to examine the association of amyloid PET scan results (elevated vs. not elevated amyloid levels) and diagnostic category (mild cognitive impairment vs. dementia) with the likelihood of having an advance directive (reported a median of 4.5 months post-scan); to explore perceptions of PET scan results and their influence on planning for the future among persons with cognitive impairment and their care partners.
Methods
Sequential, explanatory mixed-methods design using data from dyads in the CARE-IDEAS study: advance directives as a factor of diagnostic category and scan result using multivariable logistic regression models; thematic analysis of semi-structured interviews with persons with cognitive impairment and care partners to explore how scan results influenced documentation of future healthcare preferences. Participants included 1784 persons with cognitive impairment and care partners from the CARE-IDEAS study, and a subsample of 100 semi-structured telephone interviews.
Results
81.6% of dyads reported an advance directive. Non-Hispanic, White participants had higher rates of advance directives. There was no significant association between having an advance directive and scan results. Qualitative analysis provided insight into perceived urgency to have advance directives, evolving healthcare preferences, and the context of completing advance directives.
Conclusions
Although amyloid PET scans prompted persons with cognitive impairment and care partners to consider progressive cognitive impairment as part of evolving healthcare preferences, we found substantial variability in the perceived urgency of documentation.
“…Moreover, the table on risk communication published in Visser et al. (2021) 24 has been deeply revised ( Table 3 ). Fig.…”
Section: The Memory Clinic Of the Futurementioning
confidence: 99%
“…Risk disclosure is a medical act by itself, because of its potential impact on psychological and mental health of the individual. 24 The continuous nature of risk makes risk communication an exercise more complex than disclosing the dichotomous event of a diagnosis (affected/not affected). The general population, and even health professionals, often do not correctly interpret probabilities and epidemiological data.…”
Section: The Memory Clinic Of the Futurementioning
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