癌症基因组检测主流化:癌症基因组检测主流化:可接受性、有效性和影响的范围审查》。

IF 2.9 3区 医学 Q2 GENETICS & HEREDITY Clinical Genetics Pub Date : 2024-11-27 DOI:10.1111/cge.14660
Jennifer Berkman, Emily DeBortoli, Julia Steinberg, Vivienne Milch, Tatiane Yanes, Aideen McInerney-Leo
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引用次数: 0

摘要

有限的临床遗传学服务与不断扩大的基因组检测相结合,推动了基因组检测主流化护理模式的发展:特别是嵌入式遗传咨询师(GEM)和熟练医师(UPC)模式。为了确定癌症主流化环境的可行性、可接受性和对健康经济的影响,我们对文献进行了范围界定。通过对 PubMed 进行全面搜索,我们找到了 2013 年至 2023 年间发表的相关英文稿件。在确定的 156 篇文章中,有 37 篇进行了全面综述,涉及五种癌症类型。在这两种护理模式中,检测吸收率均大于 90%,转诊/检测率提高了 1.2-6.7 倍。从诊断到结果披露的时间缩短了 1.5-6 倍,致病变异检测率≥ 10%。GEM 模型研究既没有评估成本效益,也没有评估医生/患者的结果。UPC 模式在经济上是可行的,主要是通过减少与遗传学相关的预约。医生认为 UPC 模式的工作量是可以接受的,并表示在知识和信心方面有所提高。在 UPC 模式中,患者的痛苦程度总体较低,与标准护理相当。患者的接受度和满意度/决策满意度都很高,并且对持续护理表示赞赏。将癌症基因组检测纳入主流是可行的,对患者、医生和医疗系统都有好处。需要进行更多的研究来了解 GEM 模式的影响,并将 GEM 与 UPC 模式进行比较。还需要进一步详细了解专职医疗和护理人员对 UPC 模式的支持情况。
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Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact.

Finite clinical genetics services combined with expanding genomic testing have driven development of mainstreaming models-of-care for genomic testing: specifically genetic counselor embedded (GEM) and upskilled-clinician (UPC) models. To determine feasibility, acceptability, and health economic impact in cancer mainstreaming settings we conducted a scoping review of the literature. A comprehensive PubMed search identified relevant manuscripts, published in English between 2013 and 2023. Of 156 identified articles, 37 proceeded to full review, encompassing five cancer types. In both models-of-care, testing uptake was > 90% and referral/testing rates increased 1.2-6.7-fold. Time from diagnosis to result disclosure decreased 1.5-6-fold and pathogenic variant detection rates were ≥ 10%. GEM model studies evaluated neither cost-effectiveness nor physician/patient outcomes. UPC models were economically viable, primarily through reducing genetics-related appointments. Physicians found the UPC model workload acceptable and reported improvements in knowledge and confidence. Patient distress in the UPC model was low overall and comparable to standard-of-care. Patients' acceptance and satisfaction/decisional satisfaction were high, and continuity-of-care was appreciated. Mainstreaming cancer genomic testing is feasible and beneficial to patients, physicians, and healthcare systems. More studies are needed to capture GEM model impacts and to compare GEM with UPC models. Further detail of allied health and nursing support for the UPC model is also required.

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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
期刊最新文献
Exploring the Cognitive and Behavioral Aspects of Shprintzen-Goldberg Syndrome; a Novel Cohort and Literature Review. Mainstreaming Cancer Genomic Testing: A Scoping Review of the Acceptability, Efficacy, and Impact. The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal Community. Mobile Element Insertion in the APOB Exon 3 Coding Sequence: A New Challenge in Hypobetalipoproteinemia Diagnosis. Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.
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