Ordering molecular genetic tests: Clinician considerations and precautions

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.

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Publication Details

Journal
Wadia Journal of Women and Child Health
Published
2026-03-09
DOI
https://doi.org/10.25259/wjwch_30_2025
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

Ordering molecular genetic tests: Clinician considerations and precautions

Vrushali Anupkumar Rawool, Anupkumar Rawool
Wadia Journal of Women and Child Health
Genomics and Rare Diseases
article

Ordering molecular genetic tests: Clinician considerations and precautions

Vrushali Anupkumar Rawool, Anupkumar Rawool
article en

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.

Wadia Journal of Women and Child HealthVol. 4
Dr. D. Y. Patil Medical College, Hospital and Research Centre (IN)
Openalex Percentile: Top 29%
Genomics and Rare Diseases
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