Future Promises and Concerns of Ubiquitous Next-Generation Sequencing

W. Richard McCombie, John Douglas Mcpherson

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


Since the first draft of the human genome was completed, next-generation DNA sequencing technology has dramatically reduced the cost of sequencing a genome. Computational analysis has not advanced as fast as the instruments that generate the data, and storing all the data remains a challenge. Nevertheless, personal genomics has arrived and is already being used in the clinic. Significant privacy issues remain, however, and these are not widely understood. The Genetic Information Non-Discrimination Act (GINA) needs to be extended and the probabilistic nature of genetic predisposition must be better explained to both the public and physicians. We must also be wary that this promising new technology and its applications do not amplify existing healthcare disparities.

Original languageEnglish (US)
JournalCold Spring Harbor perspectives in medicine
Issue number9
StatePublished - Sep 3 2019

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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