Year: 2026
Type: article
Abstract: Molecular genetic testing including targeted panels, whole-exome sequencing (WES), whole-genome sequencing, and somatic mutation analysis is increasingly becoming pivotal in clinical medicine. These tools aid in diagnosis, prognosis, treatment selection, and familial risk assessment. However, effective test utilization requires careful attention to analytical validity, clinical utility, informed consent, result interpretation, and ethical, legal, and societal implications. This review outlines clinician-oriented considerations and precautions across the pre-analytic, analytic, and post-analytic phases of testing, emphasizing multidisciplinary interpretation, patient-centered counseling, and the evolving governance landscape.
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W7134240407