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J Thorac Cardiovasc Surg 2003;126:334-336
© 2003 The American Association for Thoracic Surgery

Editorial

Express yourself—but consider the consequences

Reed E. Pyeritz, MD, PhDa,*

a Division of Medical Genetics, University of Pennsylvania School of Medicine, Philadelphia, PaUSA.

Received for publication April 15, 2003; accepted for publication April 21, 2003.

* Address for reprints: Reed E. Pyeritz, MD, PhD, Division of Medical Genetics, Maloney 538, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104-4283, USA
reed.pyeritz@uphs.upenn.edu

The first 20% of the full text of this article appears below.

In less than its allotted 15 years, the US Human Genome Project has produced all of its promised products and then some, including a complete draft (minus a few pesky hard-to-clone regions) of the sequence of the 3.2 billion nucleotides of DNA found in each haploid set of human chromosomes. The publication of this draft sequence coincides with the 50th anniversary of the famous and famously brief letter to Nature by James Watson and Francis Crick1 in which they proposed the double-helix model of DNA structure. The human genome sequence, not to mention the sequences of the mouse and a host of other eukaryotes and prokaryotes, represents an enormous amount of information, only a fraction of which has been analyzed. Indeed, the work of validating, cataloguing, comparing, and interpreting genetic information has spawned a growth industry in the field now termed bioinformatics. Another derivative of the various genome projects around the world has been rapid advances in bioinstrumentation. The most obvious example is the evolution of automated machines that churn out nucleotide sequence data; the speed of sequencing increased almost in proportion to the decrease in cost per nucleotide.

Other technologies evolved quickly as well. The first demonstration of hybridizing samples of RNA or DNA in solution to short nucleotide sequences (oligonucleotides) fixed to a glass slide occurred a decade ago.2 The platforms became known as arrays or chips, and a variety of techniques was developed to construct them. One popular technique combines photolithography with solid-phase chemistry. Tens or hundreds of thousands of different molecular probes can be affixed in defined order to a support the size of a microscope slide cover . . . [Full Text of this Article]






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