The Value of Present and the Promise of Future Sequencing Strategies

July 16, 2014
The Value of Present and the Promise of Future Sequencing Strategies
The first printout of the human genome as displayed at the Wellcome collection, London [Russ London—Wikicommons]

Richard Mazzarella, Ph.D.

The Human Genome Project provided a path for determining the genetic basis of many inherited diseases and neoplasms. So far, various efforts from both research institutions and private companies have yielded myriad single gene and disease panel tests for both cancer and various Mendelian diseases, which have proven quite useful in diagnosing and treating specific conditions. The scope of single gene tests is limited, making them less effective at identifying a patient’s underlying disease state and appropriate cancer drug regimens. Large cancer panels containing all the actionable genes do better at elucidating this type of information. The maturation of next-generation sequencing (NGS) technology, though, has made whole-exome and whole-genome studies viable options, especially if they can be used to assemble a mineable knowledge base that could yield a more comprehensive understanding of disease.

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