Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
Open accessAbstract
Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10-12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apolipoprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.
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People who inherit an Alzheimer's mutation in the APP, presenilin 1, or presenilin 2 genes are virtually guaranteed to develop the disease if they live a normal life span.
“Those inheriting an Alzheimer's mutation to these genes are virtually guaranteed to develop the disease if they live a normal life span.96”
From 2023 Alzheimer's disease facts and figures (2023) · cites this paper as [96]
People who inherit an Alzheimer's mutation to the amyloid precursor protein gene or the presenilin 1 or presenilin 2 genes are virtually guaranteed to develop the disease if they live a normal life span.
“People who inherit an Alzheimer's mutation to these genes are virtually guaranteed to develop the disease if they live a normal life span.”
From 2024 Alzheimer's disease facts and figures (2024) · cites this paper as [103]
ApoE genetic testing requires specific consent procedures and may raise ethical and psychological considerations.
“Genetic testing requires specific consent procedures, may raise ethical and psychological considerations”
From Plasma ApoE proteotyping for ApoE ε4 stratification in the anti-amyloid therapies era (2026) · cites this paper as [14]
ApoE genetic testing is often associated with longer turnaround times (from several days to a few months) compared with laboratory assays that can provide results within hours.
“longer turnaround times (from several days to a few months) compared to laboratory assays that can provide results within hours”
From Plasma ApoE proteotyping for ApoE ε4 stratification in the anti-amyloid therapies era (2026) · cites this paper as [14]
The APOE SUSCEPTIBILITY TESTING section discusses the clinical use and interpretation of APOE genotyping, but gives no turnaround time. A search for turnaround time, several days, months, and hours found no passage comparing APOE testing with faster laboratory assays. Page numbers were unavailable in our copy. (LLM, conf=0.74)
Experimental — accuracy not yet measuredApoE genetic testing is often associated with higher costs (typically hundreds of euros) compared with laboratory assays (less than a hundred euros in our setting).
“is often associated with higher costs (typically in the order of hundreds of euros) and longer turnaround times (from several days to a few months) compared to laboratory assays that can provide results within hours and at substantially lower cost (less than a hundred euros in our setting) [13–15].”
From Plasma ApoE proteotyping for ApoE ε4 stratification in the anti-amyloid therapies era (2026) · cites this paper as [14]
The APOE SUSCEPTIBILITY TESTING section discusses clinical use of genotyping and notes that REVEAL participants received testing free of charge, but says that setting was not representative of typical clinical practice. Searches for testing costs and turnaround times found no comparison with laboratory assays or figures in euros. (LLM, conf=0.76)
Experimental — accuracy not yet measured
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The Consortium to Establish a Registry for Alzheimer's Disease (CERAD)
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A Novel Presenilin-1 Mutation (Leu85Pro) in Early-Onset Alzheimer Disease With Spastic Paraparesis
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Children of Persons With Alzheimer Disease
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2016 Alzheimer's disease facts and figures
Alzheimer's Association (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.03.001 · Cited by 5,069 · see citing works
2023 Alzheimer's disease facts and figures
(2023) · Alzheimer's & Dementia · doi:10.1002/alz.13016 · Cited by 3,212 · see citing works
2024 Alzheimer's disease facts and figures
(2024) · Alzheimer's & Dementia · doi:10.1002/alz.13809 · Cited by 2,536 · see citing works
2019 Alzheimer’s disease facts and figures.
Alzheimer's Association (2019) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2019.01.010 · Cited by 2,461 · see citing works
2020 Alzheimer's disease facts and figures
(2020) · Alzheimer's & Dementia · doi:10.1002/alz.12068 · Cited by 2,353 · see citing works
2018 Alzheimer's disease facts and figures
Alzheimer's Association (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2018.02.001 · Cited by 1,912 · see citing works
Defeating Alzheimer's disease and other dementias: a priority for European science and society
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The genetic landscape of Alzheimer disease: clinical implications and perspectives
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Self-citationAutophagy Dysfunction in Alzheimer’s Disease: Mechanistic Insights and New Therapeutic Opportunities
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Santos, G. S., Sinoti, S. B. P., de Almeida, F. T. C., Silveira, D., Simeoni, L. A., & Gomes-Copeland, K. K. P. (2020) · Plant Cell Tissue and Organ Culture (PCTOC) · doi:10.1007/s11240-020-01911-5 · Cited by 28 · see citing works
TM2D genes regulate Notch signaling and neuronal function in Drosophila
Salazar, J. L., Yang, S.-A., Lin, Y. Q., Li-Kroeger, D., Marcogliese, P. C., Deal, S. L., Neely, G. G., & Yamamoto, S. (2021) · PLOS Genetics · doi:10.1371/journal.pgen.1009962 · Cited by 13 · see citing works
Plasma ApoE proteotyping for ApoE ε4 stratification in the anti-amyloid therapies era
Coraglia, F., Cecchetti, G., Rugarli, G., Spinelli, E. G., Ghirelli, A., Pisano, S., Canu, E., Filippi, M., & Agosta, F. (2026) · Alzheimer's Research & Therapy · doi:10.1186/s13195-026-02089-2 · Cited by 1 · see citing works
- Authors
- Goldman, J. S., Hahn, S. E., Catania, J. W., Larusse-Eckert, S., Butson, M. B., Rumbaugh, M., Strecker, M. N., Roberts, J. S., Burke, W., Mayeux, R., & Bird, T.
- Affiliations
- Columbia University Irving Medical Center (US)
- University of Miami (US)
- Columbia University (US)
- Case Western Reserve University (US)
- University of Washington (US)
- University of California, San Francisco (US)
- University of Michigan (US)
- Corresponding author
- Goldman, Jill S.
- ORCID
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2011-06
- Volume
- 13
- Issue
- 6
- Pages
- 597-605
- ISSN
- 1098-3600 (ISSN-L)
- PMC
- PMC3326653
- OpenAlex
- W2067108324
- Cited by
- 393
- References
- 128
- Citations by year
- 2026: 18 · 2025: 27 · 2024: 30 · 2023: 21 · 2022: 32 · 2021: 36 · 2020: 33 · 2019: 29 · 2018: 28 · 2017: 17 · 2016: 24 · 2015: 21 · 2014: 26 · 2013: 28 · 2012: 21
- FWCI
- 16.85
- Type
- journal article
- Language
- en
- Update notices
- Open access
- bronze
- doi.org
- Licence
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute on Aging (P50AG008702)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- Alzheimer's disease, genetic counseling, genetic testing, apolipoprotein E, genetic risk prediction, dementia, direct-to-consumer genetic testing, family history (medicine), clinical guidelines
- MeSH terms
- Alzheimer Disease, Genetic Counseling, Genetic Testing, Humans, Risk Factors
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