Scholarlink

Background <p>Few medical fields have undergone such rapid and dynamic change in recent years as genetic diagnostics. Technological advances now allow for broad testing based on a clinically suspected diagnosis by simultaneously analyzing all genes relevant to the differential diagnosis, resulting in improved diagnostic accuracy and detection rates. Currently, many colleagues in clinics and practices are not yet utilizing the full potential of genetics as a&#xa0;diagnostic tool, or are only doing so (too) late in the course of the disease.</p> Objectives <p>The aim of this overview is to address uncertainties and unanswered questions in the field of genetics and to highlight the current possibilities and clinical relevance of genetic analysis in order to provide interested colleagues with the necessary tools for meaningful and targeted use in everyday practice and clinical work.</p> Methods <p>Drawing on a&#xa0;review of the literature, research activities, and experience in genetic diagnostics and human genetic counseling, we evaluate the potential of genetic testing in gastrohepatology. We also want to take a&#xa0;brief look at related fields (especially nephrology) where genetic diagnostics are already used more readily and can therefore serve as a&#xa0;reference for implementation in routine clinical practice.</p> Results <p>Broad genetic testing provides the opportunity to resolve cases of unclear etiology thereby closing diagnostic gaps. In many cases, it allows for the refinement and, possibly, correction of the primary clinical suspected diagnosis (known as reverse phenotyping), and is both effective and cost-efficient. Identifying a&#xa0;genetic cause provides valuable information (prognosis, morbidity spectrum, detection and monitoring of cross-organ complications) and creates the basis for valid patient stratification and etiology-based therapy selection and management.</p> Conclusion <p>The use of genetic testing as a&#xa0;diagnostic tool (biomarker) opens up new opportunities. Given the enormous clinical and therapeutic added value, we see unexplored potential that can be utilized through the increasing implementation of genetic testing in routine clinical practice.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Möglichkeiten und Bedeutung genetischer Testung als neues diagnostisches Hilfsmittel in der Gastro- und Hepatologie

  • 期刊论文

  • 发表日期：

    2026年3月31日

查看全文
  • Nadine Bachmann,
  • Ines Schmidts,
  • Carsten Bergmann

摘要

Background

Few medical fields have undergone such rapid and dynamic change in recent years as genetic diagnostics. Technological advances now allow for broad testing based on a clinically suspected diagnosis by simultaneously analyzing all genes relevant to the differential diagnosis, resulting in improved diagnostic accuracy and detection rates. Currently, many colleagues in clinics and practices are not yet utilizing the full potential of genetics as a diagnostic tool, or are only doing so (too) late in the course of the disease.

Objectives

The aim of this overview is to address uncertainties and unanswered questions in the field of genetics and to highlight the current possibilities and clinical relevance of genetic analysis in order to provide interested colleagues with the necessary tools for meaningful and targeted use in everyday practice and clinical work.

Methods

Drawing on a review of the literature, research activities, and experience in genetic diagnostics and human genetic counseling, we evaluate the potential of genetic testing in gastrohepatology. We also want to take a brief look at related fields (especially nephrology) where genetic diagnostics are already used more readily and can therefore serve as a reference for implementation in routine clinical practice.

Results

Broad genetic testing provides the opportunity to resolve cases of unclear etiology thereby closing diagnostic gaps. In many cases, it allows for the refinement and, possibly, correction of the primary clinical suspected diagnosis (known as reverse phenotyping), and is both effective and cost-efficient. Identifying a genetic cause provides valuable information (prognosis, morbidity spectrum, detection and monitoring of cross-organ complications) and creates the basis for valid patient stratification and etiology-based therapy selection and management.

Conclusion

The use of genetic testing as a diagnostic tool (biomarker) opens up new opportunities. Given the enormous clinical and therapeutic added value, we see unexplored potential that can be utilized through the increasing implementation of genetic testing in routine clinical practice.