Genetic susceptibility testing versus family history–based risk assessment: Impact on perceived risk of Alzheimer disease

LaRusse, Susan; Roberts, J. Scott; Marteau, Theresa M.; Katzen, Heather; Linnenbringer, Erin; Barber, Melissa; Whitehouse, Peter J.; Quaid, Kimberly A.; Brown, Tamsen; Green, Robert C.; Relkin, Norman

doi:10.1097/01.gim.0000151157.13716.6c

Cited by 52 publications

(52 citation statements)

References 26 publications

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“…for developing AD. This finding suggests that receiving a "reassuring" genotype result (i.e., s4-negative genotypes) may have provided a sense of certainty, which in turn led to a reduction in anxiety and perceived risk (LaRusse et al, 2005).…”

Section: Apoe Susceptibility Testingmentioning

confidence: 84%

“…No studies were found that assessed risk perceptions following genetic testing for dominantly inherited AD, while five studies were identified that described risk perceptions following APOE testing (LaRusse et al, 2005;Marteau et al, 2005;LaRusse Eckert et al, 2006;Hiraki et al, 2009;Linnenbringer et al, 2010).…”

Section: Impact Of Genetic Testing On Risk Perceptionmentioning

confidence: 99%

“…In another substudy of RE-VEAL I, participants either received a lifetime risk estimate based on family history and gender only (family history group), or an e3/e3 genotype result (genotype group). All participants in both groups received the same lifetime risk estimate of 29% for devcloping AD (LaRusse et al, 2005). Participants who received their genetic test information reported lower perceived risk and less anxiety than those who only received a risk estimate, although they were at the same risk of developing the disease.…”

mentioning

confidence: 99%

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To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk

Rahman

Meiser

Sachdev

et al. 2012

Genetic Testing and Molecular Biomarkers

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Alzheimer disease (AD) is a genetically heterogenous disorder; in rare cases autosomal dominantly inherited mutations typically cause early-onset familial AD (EOAD), whereas the risk for late-onset AD (LOAD) is generally modulated by genetic variants with relatively low penetrance but high prevalence, with variants in apolipoprotein E (APOE) being a firmly established risk factor. This article presents an overview of the current literature on the psychological and behavioral impact of genetic testing for AD. The few studies available for presymptomatic testing for EOAD showed that only a very small proportion of individuals had poor psychological outcomes as a result. Initial interest in testing for EOAD decreases significantly after identification of a specific mutation in a kindred, suggesting that interest and potential for knowledge may not translate into actual testing uptake. The majority of individuals from both the general population and those w1th a family history of AD had positive attitudes towards, and were interested in, susceptibility testmg for APOE. Motivations for genetic testing included to provide information for future planning and to learn about one's own and one's children's risks of developing AD. Although susceptibility testing for APOE genotype is not currently recommended due to the lack of clinical utility, this review demonstrates that there is interest in testing and no obvious adverse psychological effects to those who have been tested.

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Section: Apoe Susceptibility Testingmentioning

confidence: 84%

Section: Impact Of Genetic Testing On Risk Perceptionmentioning

confidence: 99%

mentioning

confidence: 99%

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To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk

Rahman

Meiser

Sachdev

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…Risk perception and information recall are two measures that are commonly used to assess the effectiveness of risk communication. Although studies have explored perceived risk of AD in our study population, 8,9 little is known about how people recall risk estimates that are associated with genetic susceptibility testing for common disorders such as AD.The vast majority of studies on risk information recall have been carried out in breast cancer genetic testing and counseling. The risk information presented in genetic counseling and testing for breast cancer is necessary for the health practitioner and patient to make informed medical decisions regarding appropriate risk management; this scenario may also apply to AD in the future if preventative strategies are identified.…”

mentioning

confidence: 99%

Recall of disclosed Apolipoprotein E genotype and lifetime risk estimate for Alzheimer's disease: The REVEAL Study

Eckert

Katzen²,

Roberts³

et al. 2006

Genetics in Medicine

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Purpose: To determine whether individuals recall their apolipoprotein E genotype and numeric lifetime risk estimates after undergoing a risk assessment for Alzheimer's disease. Methods: One-hundred and four participants underwent Alzheimer's disease risk assessment that included disclosure of apolipoprotein E genotype and a numeric lifetime risk estimate. Results: At six weeks and one year post-disclosure, 59% and 48% of participants, respectively, recalled their lifetime risk estimate, and 69% and 63% recalled their apolipoprotein E genotype.Participants were more likely to remember their genotype than numeric lifetime risk estimate at one year (P Ͻ 0.05). Apolipoprotein E 4-positive participants had better recall of their genotype at both time points (P Ͻ 0.05).Participants were more likely to recall whether they carried the "risk-enhancing form of apolipoprotein E" than their specific genotype (P Ͻ 0.05). Conclusions: These data suggest that apolipoprotein E genotype, especially the presence of an 4 allele, is more memorable than a numeric risk estimate for Alzheimer's disease. Participants recalled genotype information in a more simplified, binary form. Health professionals testing for complex disorders such as Alzheimer's disease must find an appropriate balance between communicating risk in an understandable format and addressing the probabilistic nature of the information. Genet Med 2006:8(12):746-751. Key Words: genetic susceptibility testing, REVEAL, Alzheimer's disease, APOE, risk information recall, genetic counselingAlzheimer's disease (AD) is a complex late-onset disease known to have a substantial genetic component. 1 There are three known genes associated with the early-onset autosomal dominant form of AD, but these genes account for Ͻ2% of AD cases. 2 The polymorphism associated with the much more common late-onset AD, the 4 allele of the apolipoprotein E (APOE) gene, 3 is relatively common in the general population with approximately 25% of individuals carrying at least one 4 allele.At the present time genetic testing for late-onset AD is not widely performed or recommended because of the low predictive value of APOE genotyping and the lack of proven preventative options. 4 -7 Genetic counseling and testing for complex disorders such as AD will become more widespread if additional susceptibility genes and effective preventative strategies are identified. A major aim of genetic counseling for complex disorders is to inform an individual of his or her probabilistic risk of developing a specific disease; therefore, an essential component of genetic counseling is risk communication. Risk perception and information recall are two measures that are commonly used to assess the effectiveness of risk communication. Although studies have explored perceived risk of AD in our study population, 8,9 little is known about how people recall risk estimates that are associated with genetic susceptibility testing for common disorders such as AD.The vast majority of studies on risk information recall have been carr...

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“…Involvement of an HCP such as a genetic counselor is particularly important in cases where family history assessments identify risks for hereditary conditions for which screening or preventative recommendations exist. More studies assessing how PGT results and family history analysis influence consumer risk perception 24 are essential to address the potential for false reassurance and misattributed equivalence, as well as the need for genetic counseling services. Such studies would shed light on the true drawbacks and benefits of PGT and guide recommendations for the appropriate use of PGT.…”

Section: Family and Medical History Assessments: Other Potential Genementioning

confidence: 99%

Risk estimates for complex disorders: comparing personal genome testing and family history

Aiyar

Shuman

Hayeems

et al. 2014

Genetics in Medicine

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Genetic susceptibility testing versus family history–based risk assessment: Impact on perceived risk of Alzheimer disease

Cited by 52 publications

References 26 publications

To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk

To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk

Recall of disclosed Apolipoprotein E genotype and lifetime risk estimate for Alzheimer's disease: The REVEAL Study

Risk estimates for complex disorders: comparing personal genome testing and family history

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