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

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dc.contributor.authorAkcan, Mehmet Berkay
dc.contributor.authorKose, Canan Ceylan
dc.contributor.authorCelik, Kubra Muge
dc.contributor.authorTekin, Koray
dc.contributor.authorKaya, Derya
dc.contributor.authorSilan, Fatma
dc.date.accessioned2025-05-29T02:57:41Z
dc.date.available2025-05-29T02:57:41Z
dc.date.issued2025
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractIntroduction 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.
dc.identifier.doi10.1111/ahg.12592
dc.identifier.endpage113
dc.identifier.issn0003-4800
dc.identifier.issn1469-1809
dc.identifier.issue2-3
dc.identifier.pmid40008663
dc.identifier.scopus2-s2.0-85219517656
dc.identifier.scopusqualityQ3
dc.identifier.startpage106
dc.identifier.urihttps://doi.org/10.1111/ahg.12592
dc.identifier.urihttps://hdl.handle.net/20.500.12428/30141
dc.identifier.volume89
dc.identifier.wosWOS:001432224200001
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherWiley
dc.relation.ispartofAnnals of Human Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250529
dc.subjectACMG
dc.subjectcardiovascular disease
dc.subjectcancer
dc.subjectexome sequencing
dc.subjectsecondary findings
dc.titleExploring and Expanding Secondary Findings Through Exome Sequencing in the Turkish Population
dc.typeArticle

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