Whole Genome Sequencing: A Boon for the Society to rule out Undiagnosed & Rare Genetic Ailments

Whole Genome Sequencing (WGS) has emerged as a transformative tool in modern medicine, offering comprehensive insights into the complete genetic makeup of an individual. By analyzing the entire genome, WGS enables the accurate identification of disease-causing genetic variants that often remain undetected through conventional diagnostic methods. This technology is particularly valuable in diagnosing rare and undiagnosed genetic disorders, where symptoms are complex, overlapping, or atypical. It facilitates early and precise diagnosis, supports personalized treatment strategies, and reduces the prolonged diagnostic journey experienced by many patients. Beyond individual healthcare, WGS contributes to population health by improving disease surveillance, advancing biomedical research, and informing preventive strategies. Despite challenges such as data interpretation, ethical considerations, cost, and privacy concerns, the integration of WGS into clinical practice holds significant promise. Overall, Whole Genome Sequencing represents a major boon to society by enhancing diagnostic accuracy, improving patient outcomes, and advancing the understanding of genetic diseases.

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Publication Details

Journal
JOURNAL OF ADVANCE AND FUTURE RESEARCH
Published
2025-12-01
DOI
https://doi.org/10.56975/jaafr.v3i12.502238
Primary Topic
Genomics and Rare Diseases
Type
article
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article

Whole Genome Sequencing: A Boon for the Society to rule out Undiagnosed & Rare Genetic Ailments

Tiyasha Mishra
JOURNAL OF ADVANCE AND FUTURE RESEARCH
Genomics and Rare Diseases
article

Whole Genome Sequencing: A Boon for the Society to rule out Undiagnosed & Rare Genetic Ailments

Tiyasha Mishra
article en

Abstract

Whole Genome Sequencing (WGS) has emerged as a transformative tool in modern medicine, offering comprehensive insights into the complete genetic makeup of an individual. By analyzing the entire genome, WGS enables the accurate identification of disease-causing genetic variants that often remain undetected through conventional diagnostic methods. This technology is particularly valuable in diagnosing rare and undiagnosed genetic disorders, where symptoms are complex, overlapping, or atypical. It facilitates early and precise diagnosis, supports personalized treatment strategies, and reduces the prolonged diagnostic journey experienced by many patients. Beyond individual healthcare, WGS contributes to population health by improving disease surveillance, advancing biomedical research, and informing preventive strategies. Despite challenges such as data interpretation, ethical considerations, cost, and privacy concerns, the integration of WGS into clinical practice holds significant promise. Overall, Whole Genome Sequencing represents a major boon to society by enhancing diagnostic accuracy, improving patient outcomes, and advancing the understanding of genetic diseases.

JOURNAL OF ADVANCE AND FUTURE RESEARCHVol. 3(12)
Vidyasagar University (IN)
Openalex Percentile: Top 24%
Genomics and Rare Diseases
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