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The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review.
Front Med (Lausanne). 2018; 5:108.FM

Abstract

Alzheimer's disease (AD) is the most common type of dementia, which has a substantial genetic component. AD affects predominantly older people. Accordingly, the prevalence of dementia has been rising as the population ages. To date, there are no effective interventions that can cure or halt the progression of AD. The only available treatments are the management of certain symptoms and consequences of dementia. The current state-of-the-art medical care for AD comprises three simple principles: prevent the preventable, achieve early diagnosis, and manage the manageable symptoms. This review provides a summary of the current state of knowledge of risk factors for AD, biological diagnostic testing, and prospects for treatment. Special emphasis is given to recent advances in genetics of AD and the way genomic data may support prevention, early intervention, and development of effective pharmacological treatments. Mutations in the APP, PSEN1, and PSEN2 genes cause early onset Alzheimer's disease (EOAD) that follows a Mendelian inheritance pattern. For late onset Alzheimer's disease (LOAD), APOE4 was identified as a major risk allele more than two decades ago. Population-based genome-wide association studies of late onset AD have now additionally identified common variants at roughly 30 genetic loci. Furthermore, rare variants (allele frequency <1%) that influence the risk for LOAD have been identified in several genes. These genetic advances have broadened our insights into the biological underpinnings of AD. Moreover, the known genetic risk variants could be used to identify presymptomatic individuals at risk for AD and support diagnostic assessment of symptomatic subjects. Genetic knowledge may also facilitate precision medicine. The goal of precision medicine is to use biological knowledge and other health information to predict individual disease risk, understand disease etiology, identify disease subcategories, improve diagnosis, and provide personalized treatment strategies. We discuss the potential role of genetics in advancing precision medicine for AD along with its ethical challenges. We outline strategies to implement genomics into translational clinical research that will not only improve accuracy of dementia diagnosis, thus enabling more personalized treatment strategies, but may also speed up the discovery of novel drugs and interventions.

Authors+Show Affiliations

Litwin-Zucker Center for the study of Alzheimer's Disease, The Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY, United States. Division of Geriatric Psychiatry, Zucker Hillside Hospital, Northwell Health, Glen Oaks, NY, United States.Robert S Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY, United States.Litwin-Zucker Center for the study of Alzheimer's Disease, The Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY, United States.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

29740579

Citation

Freudenberg-Hua, Yun, et al. "The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review." Frontiers in Medicine, vol. 5, 2018, p. 108.
Freudenberg-Hua Y, Li W, Davies P. The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review. Front Med (Lausanne). 2018;5:108.
Freudenberg-Hua, Y., Li, W., & Davies, P. (2018). The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review. Frontiers in Medicine, 5, 108. https://doi.org/10.3389/fmed.2018.00108
Freudenberg-Hua Y, Li W, Davies P. The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review. Front Med (Lausanne). 2018;5:108. PubMed PMID: 29740579.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Role of Genetics in Advancing Precision Medicine for Alzheimer's Disease-A Narrative Review. AU - Freudenberg-Hua,Yun, AU - Li,Wentian, AU - Davies,Peter, Y1 - 2018/04/24/ PY - 2018/01/21/received PY - 2018/04/03/accepted PY - 2018/5/10/entrez PY - 2018/5/10/pubmed PY - 2018/5/10/medline KW - Alzheimer’s disease KW - genetics KW - genome sequencing KW - genomics KW - precision medicine KW - risk factors KW - risk variants SP - 108 EP - 108 JF - Frontiers in medicine JO - Front Med (Lausanne) VL - 5 N2 - Alzheimer's disease (AD) is the most common type of dementia, which has a substantial genetic component. AD affects predominantly older people. Accordingly, the prevalence of dementia has been rising as the population ages. To date, there are no effective interventions that can cure or halt the progression of AD. The only available treatments are the management of certain symptoms and consequences of dementia. The current state-of-the-art medical care for AD comprises three simple principles: prevent the preventable, achieve early diagnosis, and manage the manageable symptoms. This review provides a summary of the current state of knowledge of risk factors for AD, biological diagnostic testing, and prospects for treatment. Special emphasis is given to recent advances in genetics of AD and the way genomic data may support prevention, early intervention, and development of effective pharmacological treatments. Mutations in the APP, PSEN1, and PSEN2 genes cause early onset Alzheimer's disease (EOAD) that follows a Mendelian inheritance pattern. For late onset Alzheimer's disease (LOAD), APOE4 was identified as a major risk allele more than two decades ago. Population-based genome-wide association studies of late onset AD have now additionally identified common variants at roughly 30 genetic loci. Furthermore, rare variants (allele frequency <1%) that influence the risk for LOAD have been identified in several genes. These genetic advances have broadened our insights into the biological underpinnings of AD. Moreover, the known genetic risk variants could be used to identify presymptomatic individuals at risk for AD and support diagnostic assessment of symptomatic subjects. Genetic knowledge may also facilitate precision medicine. The goal of precision medicine is to use biological knowledge and other health information to predict individual disease risk, understand disease etiology, identify disease subcategories, improve diagnosis, and provide personalized treatment strategies. We discuss the potential role of genetics in advancing precision medicine for AD along with its ethical challenges. We outline strategies to implement genomics into translational clinical research that will not only improve accuracy of dementia diagnosis, thus enabling more personalized treatment strategies, but may also speed up the discovery of novel drugs and interventions. SN - 2296-858X UR - https://www.unboundmedicine.com/medline/citation/29740579/The_Role_of_Genetics_in_Advancing_Precision_Medicine_for_Alzheimer's_Disease_A_Narrative_Review_ L2 - https://doi.org/10.3389/fmed.2018.00108 DB - PRIME DP - Unbound Medicine ER -
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