通过土耳其人群外显子组测序探索和扩展次要发现。

IF 1.2 4区生物学 Q4 GENETICS & HEREDITY

Annals of Human Genetics Pub Date : 2025-02-26 DOI:10.1111/ahg.12592

Mehmet Berkay Akcan, Canan Ceylan Köse, Kübra Müge Çelik, Koray Tekin, Derya Kaya, Fatma Sılan

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引用次数: 0

摘要

外显子组测序（ES）方法能够在具有挑战性的病例中进行准确诊断，并发现可能与危及生命或可预防疾病相关的次要发现（sf）。美国医学遗传学和基因组学学院（ACMG）发布了一份清单，详细说明了哪些sf应该报告，并定期更新。我们的目的是比较不同SF版本患者的结果，并探索其他SF，以确定SF报告的潜在新建议。方法：我们使用QIAGEN临床洞察（QCI）解读数据库对724例患者进行回顾性分析，以确定ACMG SFs。此外，我们还调查了ACMG SFs中未列出的癌症和心血管疾病基因的致病/可能致病变异，以及与我国常见疾病相关的基因。方法：56例（7.7%）患者发现ACMG SF v3.2变异，ACMG v3.1与v3.2无明显差异。此外，我们的分析显示，208例患者携带非acmg SF变异。结论：在本研究中，我们重点关注已知的sf，并确定了可被视为新推荐的其他变体。虽然扩大SF列表可能会给分析和遗传咨询带来挑战，但精心策划的SF列表有可能加强患者护理并改善临床结果。

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Exploring and Expanding Secondary Findings Through Exome Sequencing in the Turkish Population

Introduction

Exome-sequencing (ES) methods enable accurate diagnosis in challenging cases and uncover secondary findings (SFs) potentially linked to life-threatening or preventable diseases. The American College of Medical Genetics and Genomics (ACMG) publishes a list detailing which SFs should be reported and regularly updates it. We aimed to compare results across different SF versions in patients and explore additional SFs to identify potential new recommendations for SF reporting.

Methods

We conducted a retrospective analysis of 724 patients to identify ACMG SFs using the QIAGEN Clinical Insight (QCI) Interpret database. Furthermore, we investigated pathogenic/likely pathogenic variants in cancer and cardiovascular disease genes not listed in ACMG SFs, as well as genes associated with common diseases prevalent in our country.

Methods

ACMG SF v3.2 variants were identified in 56 patients (7.7%), with no observed differences between ACMG v3.1 and v3.2. Additionally, our analysis revealed that 208 patients harbored non-ACMG SF variants.

Conclusion

In this study, we focused on known SFs and identified additional variants that could be considered as new recommendations. While expanding the list of SFs can pose challenges during analyses and genetic counseling, a thoughtfully curated SF list has the potential to enhance patient care and improve clinical outcomes.

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来源期刊

Annals of Human Genetics 生物-遗传学

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.