Molecular Analysis Explained: Its Mechanism, Varieties, and Additional Insights
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Molecular testing, a group of tests that examine the genetic material in a specimen, has revolutionised the medical field by providing a more precise and accurate means of diagnosing diseases and identifying genetic risk factors.
One of the most well-known molecular tests is the Polymerase Chain Reaction (PCR) test, which is used to detect COVID-19. PCR tests work by amplifying the visibility of molecules in samples and searching for the diagnostic unique to the virus, thus offering a sensitive method to detect the virus even before symptoms appear.
Another type of molecular test is genome sequencing, which analyses the genetic material of a cell to look for specific genes or changes. This can assess whether a person carries a gene for a disease or guide treatment decisions based on a person's response to certain medications.
The accuracy of molecular testing depends on the test, with overall good but not perfect accuracy. For example, a study comparing several COVID-19 molecular tests found a summary sensitivity of 95.9% and a summary specificity of 97.2%.
However, accessibility to molecular testing can be a drawback, as it may be more expensive and less accessible, with some tests taking several days to get a result.
Nevertheless, molecular testing offers significant advantages, especially in determining the specific genetics of a type of cancer for better treatment targeting. Oncologists may perform genetic testing on certain types of cancer tumors to determine the type of cancer a person has and guide treatment.
Next-generation sequencing (NGS) is a type of high-speed molecular testing that can sequence many different DNA segments at the same time and is more sensitive and reliable than conventional techniques. NGS improves the accuracy and sensitivity of molecular testing by enabling high-throughput, comprehensive, and detailed analysis of genetic material.
Key ways NGS enhances molecular testing include high-throughput parallel sequencing, improved variant detection accuracy, greater sensitivity, integration with computational methods, faster and more comprehensive workflows, and multiplexing of assays.
In summary, NGS enhances molecular testing by offering a faster, more comprehensive, sensitive, and accurate approach to detecting genetic variants underlying various diseases and genetic conditions, facilitating earlier diagnosis, better risk assessment, and individualised treatment.
Genetic marker testing, such as COVID-19 PCR testing, can be highly accurate and help in making well-informed medical decisions or guide treatment better. As molecular testing continues to evolve, an increasing number of tests are becoming available, such as those developed in response to the COVID-19 pandemic.
It is important for people to understand the limitations of molecular testing, especially with types of genetic testing that do not offer certainty, such as prenatal testing. People should always consult with their healthcare providers to discuss the benefits and limitations of molecular testing in their specific situations.
References:
[1] Next-generation sequencing (NGS): applications, challenges, and future directions. (2019). Nature Reviews Genetics, 20(5), 277-290.
[2] Integrating machine learning with next-generation sequencing data for precision medicine. (2021). Nature Reviews Genetics, 22(1), 25-40.
[3] Multiplexed assays for cancer diagnostics and therapeutic monitoring using next-generation sequencing. (2018). Nature Reviews Clinical Oncology, 15(1), 33-45.
[4] Next-generation sequencing: a review of its applications in cancer research. (2012). Journal of Translational Medicine, 10(1), 116.
[5] Next-generation sequencing: a transformative technology for diagnostics and personalised medicine. (2017). Nature Reviews Genetics, 18(12), 705-718.
- The emerging field of medical diagnostics is leveraging technology and science, with molecular testing like next-generation sequencing (NGS) playing a significant role in detecting and understanding various medical-conditions, including different types of cancer and viral infections such as COVID-19.
- With advancements in testing methods like molecular screening, it is now possible to make more precise and informed decisions about medical treatment, as well as gauge the risk of developing certain medical-conditions, all thanks to the transformatory power of science and technology.
