Clinical application of whole genome sequencing in young onset dementia: challenges and opportunities.

IF 3.9 3区医学 Q1 PATHOLOGY

Expert Review of Molecular Diagnostics Pub Date : 2024-08-01 Epub Date: 2024-08-12 DOI:10.1080/14737159.2024.2388765

Aamira Huq, Bryony Thompson, Ingrid Winship

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引用次数: 0

Abstract

Introduction: Young onset dementia (YOD) by its nature is difficult to diagnose. Despite involvement of multidisciplinary neurogenetics services, patients with YOD and their families face significant diagnostic delays. Genetic testing for people with YOD currently involves a staggered, iterative approach. There is currently no optimal single genetic investigation that simultaneously identifies the different genetic variants resulting in YOD.

Areas covered: This review discusses the advances in clinical genomic testing for people with YOD. Whole genome sequencing (WGS) can be employed as a 'one stop shop' genomic test for YOD. In addition to single nucleotide variants, WGS can reliably detect structural variants, short tandem repeat expansions, mitochondrial genetic variants as well as capture single nucleotide polymorphisms for the calculation of polygenic risk scores.

Expert opinion: WGS, when used as the initial genetic test, can enhance the likelihood of a precision diagnosis and curtail the time taken to reach this. Finding a clinical diagnosis using WGS can reduce invasive and expensive investigations and could be cost effective. These advances need to be balanced against the limitations of the technology and the genetic counseling needs for these vulnerable patients and their families.

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全基因组测序在年轻痴呆症中的临床应用：挑战与机遇。

简介幼年痴呆症（YOD）本质上很难诊断。尽管有多学科神经遗传学服务的参与，但幼年痴呆症患者及其家属仍面临着严重的诊断延误。目前，对 YOD 患者的基因检测采用交错、反复的方法。目前还没有一种最佳的基因检测方法能同时确定导致 YOD 的不同基因变异：本综述讨论了针对 YOD 患者的临床基因组检测的进展。全基因组测序（WGS）可作为 YOD 的 "一站式 "基因组检测。除单核苷酸变异外，WGS 还能可靠地检测结构变异、短串联重复扩增、线粒体基因变异，以及用于计算多基因风险评分的单核苷酸多态性：专家意见：WGS 作为初始基因检测可提高精确诊断的可能性，并缩短达到精确诊断所需的时间。使用 WGS 进行临床诊断可减少侵入性和昂贵的检查，具有成本效益。这些进步需要与技术的局限性和这些脆弱患者及其家庭的遗传咨询需求相平衡。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Expert Review of Molecular Diagnostics 医学-病理学

CiteScore

6.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.