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Clinical Genetic Testing in Gastroenterology.
Russell P Goodman1, Daniel C Chung1
1Gastroenterology Division, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Genetic testing for gastrointestinal (GI) disorders is advancing rapidly. This review covers current genetic tests, their indications, and practical considerations for gastroenterologists.
Area of Science:
- Medical Genetics
- Gastroenterology
- Clinical Diagnostics
Background:
- Genetics advancements enhance understanding of gastrointestinal (GI) disease determinants.
- Proliferation of genetic testing services offers new diagnostic avenues for GI disorders.
- Commercially available genetic tests for GI conditions are increasingly accessible.
Purpose of the Study:
- To review the current landscape of clinical genetic testing for GI illnesses.
- To discuss available genetic testing options and their applications.
- To provide practical guidance on indications and implementation of genetic testing for gastroenterologists.
Main Methods:
- Literature review of current genetic testing modalities for GI disorders.
- Analysis of commercially available genetic tests and their clinical utility.
- Discussion of practical aspects including indications and interpretation.
Main Results:
- A wide array of genetic tests for GI disorders are now commercially available.
- Understanding of genetic contributions to GI diseases has significantly improved.
- Guidelines for testing indications and practical implementation are evolving.
Conclusions:
- Genetic testing is becoming integral to the diagnosis and management of GI disorders.
- Gastroenterologists need to be familiar with the evolving field of genetic testing.
- This review aims to equip clinicians with knowledge for informed decision-making regarding genetic testing.
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