Evolution of genetic testing supports precision medicine for caring Alzheimer's disease patients. (October 2021)

• Record Type: Journal Article
• Authors: Bruni, Amalia Cecilia; Bernardi, Livia; Maletta, Raffaele
• Is Part Of: Current opinion in pharmacology. Volume 60(2021)
• Page Start: 275
• Page End: 280
• Publication Date: 2021-10
• Subjects: Pharmacology -- Periodicals; Pharmaceutical Preparations -- Periodicals; Drug Therapy -- Periodicals; Biopharmaceutics -- Periodicals; Pharmacologie -- Périodiques; Pharmacology; Periodicals; 615.105
• DOI: 10.1016/j.coph.2021.08.004
• Languages: English
• ISSNs: 1471-4892

Abstract

Abstract: Genetic testing for Alzheimer's disease offers a molecular diagnosis to patients and their relatives and provides information on personal risk, reproductive choices, clinical trial eligibility, and treatment options. In the past, molecular testing was limited to detecting single variations in single genes. Currently, with the advent of next-generation sequencing, simultaneous analysis of more than 100 genes using the same DNA sample is possible. This approach allows the determination of gene mutations, genetic risk factors, genotypes at many pharmacogenomic loci, and the determination of a polygenic risk scores for stratification of risk. This article reviews the diagnostic genetic testing of Alzheimer's disease, from the first molecular approaches to recent advances in NGS, focusing on a precision medicine approach. Highlights: Genetic testing in Alzheimer's disease provides information on personal risk. Genetic counseling should be an integral part of genetic testing. Next-generation sequencing favors analysis of hundreds of genes simultaneously. Genomic analysis is the basis of the calculation of polygenic risk scores. PRS allows risk stratification of the patient for the precision medicine approach.