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Genetic research and genetic testing in Alzheimer's disease: a view from the bridge

Nature Clinical Practice Neurology volume 3, pages 356–357 (2007)Cite this article

Genetic research into Alzheimer's disease (AD), carried out over two decades, has led to a better understanding of the disease pathogenesis and laid the foundation for potential therapies. Mutations in three genes, presenilin 1 (PSEN1), presenilin 2 (PSEN2) and amyloid precursor protein (APP), are associated with rare, autosomal dominant, early-onset forms of AD. A common allelic variant in the apolipoprotein E gene, APOEε4, is associated with increased risk for late-onset sporadic and familial AD.1 Each of these genes is involved either in the production or in the processing of β-amyloid. The AlzGene website describes variants in another 13 candidate genes that might also be involved in susceptibility to AD,2 and still other genes seem to be attractive candidates.

Genetic research findings should not be confused with clinical genetic testing. The neurologist is the bridge between scientific advances and patient management, enabling the patient and family to understand the differences between genetic research and clinical testing. Physicians typically order genetic tests that are performed in approved laboratories. These tests have been validated, and results are intended to be shared with the patient and the family, often in parallel with genetic counseling. By contrast, in research studies designed to determine whether or not there is an association between variations in the gene and the presence of disease, most research investigators are not obliged—and are sometimes not permitted—to disclose results. Research participants should, however, have access to clinical resources such as genetic counseling. For example, when research suggests that a patient has a mutation for which a valid genetic test exists, participants should have access to testing in an approved laboratory. The informed consent process briefs the research participants on issues of access (or lack of access) to the results of the research, as well as the availability of genetic counseling and clinical genetic testing. Unfortunately, there are no formal guidelines on sharing information gained in genetic research with families,3 so researchers often rely on institutional review boards.

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Acknowledgements

This work was supported by grants from the NIH and the National Institute on Aging (P01-AG07232 and R37-AG15473, awarded to RM), the Alzheimer Association, the Blanchett Hooker Rockefeller Foundation, and the Charles S Robertson Gift from the Banbury Fund (awarded to RM).

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Authors and Affiliations

  1. J Williamson is a Senior Staff Associate and Genetic Counselor at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain and at the Columbia Huntington's Disease Center of Excellence, JS Goldman is a Senior Staff Associate and Genetic Counselor at the Taub Institute, and R Mayeux is the Sergievsky Professor of Neurology, Psychiatry, and Epidemiology and Co-director of the Taub Institute, and Director of the Gertrude H Sergievsky Center and the Human Genetic Resources Core, New York, NY, USA.,

    Jennifer Williamson, Jill S Goldman & Richard Mayeux

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  1. Jennifer Williamson
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Correspondence to Richard Mayeux.

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Williamson, J., Goldman, J. & Mayeux, R. Genetic research and genetic testing in Alzheimer's disease: a view from the bridge. Nat Rev Neurol 3, 356–357 (2007). https://doi.org/10.1038/ncpneuro0524

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