期刊
NATURE REVIEWS NEUROLOGY
卷 17, 期 1, 页码 23-36出版社
NATURE RESEARCH
DOI: 10.1038/s41582-020-00416-1
关键词
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资金
- Leonard Wolfson Foundation
- University of London Chadburn Academic Clinical Lectureship
- Medical Research Council Clinician Scientist Fellowship [MR/M008525/1]
- NIHR Rare Disease Translational Research Collaboration [BRC149/NS/MH]
- National Institute for Health Research University College London Hospitals Biomedical Research Centre
- Wolfson Foundation
- ARUK [ARUK-PG2017-1946]
- Brain Research UK [UCC14191]
- Weston Brain Institute [UB170045]
- Medical Research Council
- British Heart Foundation
- European Union's Horizon 2020 research and innovation programme [666992]
- UK Dementia Research Institute
- Rosetrees Trust
- NIHR Biomedical Research Centre at University College Hospitals NHS Foundation Trust
- Medical Research Council (UK)
- Wellcome Trust
- Takeda Pharmaceuticals
- Cantervale Limited
- NIHR North Thames Local Clinical Research Network
- Wolfson Foundation for Neurodegeneration
- CHDI Foundation
- National Institute for Health Research Biomedical Research Centre at University College Hospitals NHS Foundation Trust
- Medical Research Council [MC_UU_00024/1, MC_U123160651] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0617-10175] Funding Source: researchfish
- MRC [UKDRI-1008/2, MC_UU_00024/1, UKDRI-1001, MC_U123160651] Funding Source: UKRI
Clinical genetic testing for dementia disorders has advanced rapidly, offering precise molecular diagnosis and options for affected families, but the complexity of the conditions requires careful consideration of appropriate testing methods based on clinical condition, family history, and age at onset.
Techniques for clinical genetic testing in dementia disorders have advanced rapidly but remain to be more widely implemented in practice. A positive genetic test offers a precise molecular diagnosis, can help members of an affected family to determine personal risk, provides a basis for reproductive choices and can offer options for clinical trials. The likelihood of identifying a specific genetic cause of dementia depends on the clinical condition, the age at onset and family history. Attempts to match phenotypes to single genes are mostly inadvisable owing to clinical overlap between the dementias, genetic heterogeneity, pleiotropy and concurrent mutations. Currently, the appropriate genetic test in most cases of dementia is a next-generation sequencing gene panel, though some conditions necessitate specific types of test such as repeat expansion testing. Whole-exome and whole-genome sequencing are becoming financially feasible but raise or exacerbate complex issues such as variants of uncertain significance, secondary findings and the potential for re-analysis in light of new information. However, the capacity for data analysis and counselling is already restricting the provision of genetic testing. Patients and their relatives need to be given reliable information to enable them to make informed choices about tests, treatments and data sharing; the ability of patients with dementia to make decisions must be considered when providing this information. In this Review, the authors discuss how technological advances are enabling clinical genetic testing for various dementia disorders. Additionally, they consider which types of test are appropriate for which patients and address the ethical issues that can be raised by genetic testing in these disorders.
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