“Within another ten years, it Will cost less than $500 to sequence the complete genome, alloWing the Widespread use of genetic information in common applications”
Another consideration is the advent of future, as yet unknown technologies. Properly preserved specimens will allow us look back as new techniques evolve. If the laboratory’s medical center has a tissue bank and a well-organized biobank, it will be miles ahead.
OPPORTUNITIES AHEAD The opportunities in genetic testing for most laboratories are still five to ten years out. The best strategy for laboratories is to follow developments in the field and familiarize themselves with evolving trends. The landscape is changing quickly. Laboratories that do want to be on the cutting edge or at least be prepared for what’s coming next might want to start by doing oncologic analyses for diagnosis and drug selection and pharmacogenetic analysis to uncover metabolization issues to avoid adverse drug reactions. The clinical applications in microbiology are also already here. The issues are whether it’s worth the expense and whether they have enough volume to make the investment in the technology and training worthwhile. Some major US cancer centres are starting to genotype all
their tumours to find genetic abnormalities that would influence the treatment. The Cancer Genome Atlas, an ongoing major US research effort to catalog mutations in tumours, started by studying glioblastomas and ovarian cancers and has now moved on to genotyping more than 20 other cancers. One biotech startup has set the ambitious goal of creating a single genetic test that could sequence every tumor everywhere. Who knows how long it will be before genetic testing will eventually become part of every patient’s medical record?
PATIENT DEMANDS FOR GENETIC TESTING As patients who have these tumours become more aware of the
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existence of genetic testing and the fact that the testing could influence their treatment and response to therapy, they will start demanding the testing - certainly those patients who can afford it. And some patients will want their entire genomes typed. If you discover you have a gene known to lead to coronary artery disease, you can get your LDL way down to potentially avoid the disease.
SUMMARY This incredibly, rapidly evolving technology has the potential to transform a large part of what we’re doing in the laboratory, but the evolution will be neither straightforward nor simple. Before we see mainstream applications of genetic testing beyond the reference centres, which will probably occur in the next five to ten years, we still need a huge amount of information. The best thing for laboratories to do is to keep closely follow the scientific and medical literature to see what’s developing and how to get access to it.
MAGAZINE
AUTHOR INFO Dr. Bauer is director of laboratories at Mercy San Juan Medical Center and Woodland Memorial Hospital, and chief financial officer of Path Labs, Inc., near Sacramento, California, USA. Ms. Rothenberg is an independent medical writer based in Chicago, Illinois, USA.
ACKNOWLEDGEMENTS Ms. Rothenberg’s contributions to this project were supported by the College of American Pathologists. The opinions expressed here are those of the authors, not necessarily those of the CAP.
REFERENCES References available on request (
magazine@informa.com)
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