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By Michael Snyder

In 2001 the Human Genome undertaking succeeded in mapping the DNA of people. This landmark accomplishment introduced the sphere of genomics, the built-in examine of all of the genes within the human physique and the comparable biomedical interventions that may be adapted to profit a person's well-being.

Today genomics, a part of a bigger circulation towards custom-made drugs, is poised to revolutionize healthiness care. via cross-referencing an individual's genetic series — their genome — opposed to recognized parts of "Big Data," components of genomics are already being included on a common foundation, together with prenatal sickness screening and distinctive melanoma remedies. With extra options quickly to reach on the bedside, the promise of the genomics revolution is unlimited.

This access within the What each person must recognize sequence deals an authoritative source at the customers and realities of genomics and custom-made drugs. As this technological know-how maintains to change conventional scientific paradigms, shoppers are confronted with extra ideas and extra advanced judgements concerning their health and wellbeing care. This e-book presents the fundamental details everybody wishes.

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Indeed, some types of cancer typically have tens of thousands of variants! One typically looks for mutations in known proto-​ oncogenes or tumor suppressor genes—​ of highest interest are those mutations that affect targets of FDA-​ approved drugs or drugs in clinical trials, that is, druggable targets. Examples include EGFR and PDGFR; these are inhibited by erlotinib and sunitinib, respectively. As an example, we sequenced the genome of a metastatic colon cancer patient and found increased copies of the EGFR gene (Figure 13).

Analysis of gene expression patterns can be used to measure the expression of these mutations, and allow personalized neoantigen therapy to be used to further improve cancer therapy. Once neoantigens that are expressed are identified, the patient can be vaccinated against those particular neoantigens, empowering the immune system to specifically attack the cancer cells. It is expected that this type of approach, which is highly individualized based on a person’s mutations, will be extremely effective against many types of cancer and can be used in conjunction with other therapies.

As an example, we sequenced the genome of a metastatic colon cancer patient and found increased copies of the EGFR gene (Figure 13). This patient was treated with an EGFR inhibitor as part of his therapy. Examples of the many targeted drug treatments often used for non-​small-cell lung cancer are shown in Table 2. EGFR 4 CDK6 Chr 7q arm Chr 7p arm 2 Genomic Copy 0 Number –2 CEN 0 50 100 150 Figure 13. Sequencing of a patient with metastatic colon cancer revealed amplification of the EGFR and CDK6 regions.

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