abstract: Editorial: Whole-Genome Sequencing, April 20, 2011 JAMA

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Whole-Genome Sequencing

Since this article does not have an abstract, we have provided the first 150 words of the full text.

KEYWORDS:
• EARLY DIAGNOSIS,
• GENETIC PREDISPOSITION TO DISEASE,
• GENOME, HUMAN,
• LEUKEMIA, MYELOID, ACUTE,
• LEUKEMIA, PROMYELOCYTIC, ACUTE,
• MUTATION,
• NEOPLASMS,
• ONCOGENE PROTEINS, FUSION,
• ONCOGENES,
• SEQUENCE ANALYSIS, DNA,
• TIME FACTORS,
• TP53 GENES,
• TP53 PROTEIN, HUMAN.

The past 60 years have witnessed remarkable progress in genetics and genomics from the description of the DNA double helix by Watson and Crick ¹ to the release of the first draft sequence of the human genome in 2001 ^{2, 3} and the successful completion of the human genome project in 2003. ⁴ From that time, there has been increasing hope and expectation that, as soon as the cost of sequencing the whole genome could become affordable, the promise of personalized medicine would be fulfilled.

No field of medicine has benefited more from advances in genomics and the application of genetic testing than oncology. These advances have had a substantial influence on cancer risk assessment, determination of prognosis, and choice of treatment. Clinical applications of novel genetic tools include sequencing and analysis of germline genomic rearrangements at key cancer genes like BRCA1, BRCA2, and TP53 ⁵; …