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<p>Genetic diagnostics are increasingly gaining importance in vascular surgery because many vascular diseases are closely linked to genetic alterations. Vascular diseases can be due to hereditary monogenic transmission; however, monogenic pathogenic genetic variants do not explain all cases, which is why polygenic risk factors also play a&#xa0;role. Polygenic risk scores (PRS) summarize the cumulative risk from many variants and complement classical risk indicators such as blood pressure, smoking behavior and family history. Various genetic analysis methods enable efficient diagnostics. Targeted gene panel tests help cover specific genes that correspond to the suspected diagnoses, while whole exome sequencing (WES) and whole genome sequencing (WGS) can identify rare or novel genetic variants. The choice of testing method depends on the clinical picture, family history, availability of genetic specialist centers and cost-benefit considerations.</p>

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Genetische Diagnostik in der Gefäßchirurgie

  • 期刊论文

  • 发表日期：

    2026年3月19日

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  • Philipp Erhart,
  • Sebastian Burkart,
  • Daniel Körfer,
  • Tiemo Grimm,
  • Christian P. Schaaf,
  • Dittmar Böckler,
  • Rawa Arif,
  • Matthias Karck,
  • Maja Hempel

摘要

Genetic diagnostics are increasingly gaining importance in vascular surgery because many vascular diseases are closely linked to genetic alterations. Vascular diseases can be due to hereditary monogenic transmission; however, monogenic pathogenic genetic variants do not explain all cases, which is why polygenic risk factors also play a role. Polygenic risk scores (PRS) summarize the cumulative risk from many variants and complement classical risk indicators such as blood pressure, smoking behavior and family history. Various genetic analysis methods enable efficient diagnostics. Targeted gene panel tests help cover specific genes that correspond to the suspected diagnoses, while whole exome sequencing (WES) and whole genome sequencing (WGS) can identify rare or novel genetic variants. The choice of testing method depends on the clinical picture, family history, availability of genetic specialist centers and cost-benefit considerations.