遗传诊所对成年患者进行遗传诊断。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Cold Spring Harbor Molecular Case Studies Pub Date : 2022-12-28 Print Date: 2022-12-01 DOI:10.1101/mcs.a006235
Kitiwan Rojnueangnit, Pimjai Anthanont, Thanitchet Khetkham, Sukita Puttamanee, Chupong Ittiwut
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引用次数: 0

摘要

在过去的十年中,基因检测在临床上的应用迅速增加,以确定明确的诊断、病因和具体的治疗方法。接受检测的大多数患者是儿童。对成年患者进行基因检测存在一些障碍;障碍可能来自患者或临床医生。我们的研究旨在了解成人基因检测的检出率和益处。我们对转诊到遗传诊所的 10 名成年患者进行了前瞻性研究。所有病例都进行了外显子组测序(ES),6 例进行了染色体微阵列(CMA)。我们的结果令人印象深刻:6 个病例(60%)获得了可能的致病和致病变异。四个确诊病例的已知致病变体为 KCNJ2、TGFBR1、SCN1A 和 FBN1,而另外两个病例则发现了 GNB1 和 DNAH9 的新型可能致病和致病变体。我们的研究表明,成人患者的基因诊断是成功的:四例确诊,两例可能确诊,一例部分确诊。诊断的优势不仅在于获得诊断本身,还在于解除了患者对以往任何可疑诊断的疑虑,为治疗提供了指导,并降低了其子女或家庭成员的复发风险。因此,这支持了对成年患者进行基因检测的价值。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Genetic diagnosis for adult patients at a genetic clinic.

Genetic diagnosis for adult patients at a genetic clinic.

Clinical utility of genetic testing has rapidly increased in the past decade to identify the definitive diagnosis, etiology, and specific management. The majority of patients receiving testing are children. There are several barriers for genetic tests in adult patients; barriers may arise from either patients or clinicians. Our study aims to realize the detection rate and the benefits of genetic tests in adults. We conducted a prospective study of 10 adult patients who were referred to a genetic clinic. Exome sequencing (ES) was pursued in all cases, and chromosomal microarray (CMA) was performed for six cases. Our result is impressive; six cases (60%) received likely pathogenic and pathogenic variants. Four definitive diagnosis cases had known pathogenic variants in KCNJ2, TGFBR1, SCN1A, and FBN1, whereas another two cases revealed novel likely pathogenic and pathogenic variants in GNB1 and DNAH9. Our study demonstrates the success in genetic diagnosis in adult patients: four cases with definitive, two cases with possible, and one case with partial diagnosis. The advantage of diagnosis is beyond obtaining the diagnosis itself, but also relieving any doubt for the patient regarding any previous questionable diagnosis, guide for management, and recurrence risk in their children or family members. Therefore, this supports the value of genetic testing in adult patients.

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来源期刊
Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.20
自引率
0.00%
发文量
54
期刊介绍: Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.
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