Genomic Profiling
Solution for diagnosis and help for determining the treatment of diseases
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Genomic profiling includes the detection of genetic variants that increases your risk for certain health conditions. It can provide diagnostic and prognostic information that aids in difficult clinical decision-making. The technique chosen depends on both the clinical question and the predictive value of the available tests.
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Genomic profiling in India has evolved in leaps and bounds in the past decade. Currently, there exist DNA-based tests that address multiple concerns in healthcare, from disease prevention to molecular diagnosis.
Reference:
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Pemmasani, S. K., Raman, R., Mohapatra, R., Vidyasagar, M., & Acharya, A. (2020). A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation. Frontiers in Genetics, 11. doi:10.3389/fgene.2020.00753
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Burke, W. (2002). Genetic Testing. New England Journal of Medicine, 347(23), 1867–1875. doi:10.1056/nejmoa012113
Need of Gene and Genomic Testing
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Diagnosis of disease or a type of disease.
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Determination of the cause of a disease.
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Determination of treatment options for a disease.
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Find your risk of getting a certain disease that possibly can be prevented.
Exome Test
Sequencing of all protein-coding genes leading to detection of variants
Whole Transcriptome Sequencing
Complete RNA profiling for disease diagnosis and prevention
Metagenomics
Study of collective genome of microorganisms from an environmental sample