The advent of DNA typing and its use for human identity testing has
revolutionized law enforcement investigations in recent years by
allowing forensic laboratories to match suspects with minuscule
amounts of biological evidence from a crime scene. Equally
important is the use of DNA to exclude suspects who were not
involved in a crime or to identify human remains in an accident.
The past decade has seen numerous advances in the DNA testing
procedures, most notably among them the development of PCR
(polymerase chain reaction)-based DNA typing methods. Technologies
for measuring DNA variations, both length and sequence
polymorphisms, have also advanced rapidly in the past decade. The
time needed to determine a sample's DNA profile has dropped from
6-8 weeks to 1-2 days, and with more recent advancements, the time
needed to process samples may decrease to as little as a few hours,
maybe even a few minutes. Simultaneous with the evolution of DNA
markers and technologies embraced by the forensic community has
been the acceptance and use of DNA typing information. All 50
States now have laws requiring DNA typing of convicted offenders,
typically for violent crimes such as rape or homicide. While the
law enforcement community is gearing up to gather millions of DNA
samples from convicted felons, the DNA typing technology needs
improvement. Large backlogs of samples exist today due to the high
cost of performing the DNA testing and limited capabilities in
forensic laboratories. A need exists for more rapid and
cost-effective methods for high-throughput DNA analysis to process
samples currently being gathered for large criminal DNA databases
around the world. While larger numbers of samples can be processed
by increasing the number of laboratory personnel and instruments,
the development of high-throughput DNA processing technologies
promises to be more cost effective in the long run, especially for
the generation of large DNA databases. GeneTrace Systems, Inc., a
small biotechnology company located in Alameda, California, has
developed high-throughput DNA analysis capabilities using
time-of-flight mass spectrometry coupled with parallel sample
preparation on a robotic workstation. The GeneTrace technology
allows several thousand samples to be processed daily. DNA samples
can be analyzed in seconds, rather than minutes or hours, and with
improved accuracy compared with conventional electrophoresis
methods. Overall, the mass spectrometry method described in this
study is two orders of magnitude faster in sample processing time
than conventional techniques. This NIJ project was initiated to
adapt the GeneTrace technology to human identity DNA markers
commonly used by forensic DNA laboratories, specifically short
tandem repeat (STR) markers. An extension of the original grant was
submitted in December 1997 to fund the development of single
nucleotide polymorphism (SNP) markers from mitochondrial DNA and
the Y chromosome. Based on the results obtained in this study, the
authors believe mass spectrometry can be a useful and effective
means for high-throughput DNA analysis, and that it has the
capabilities to meet the needs of the forensic DNA community for
offender DNA databases. However, due to limited resources and a
perceived difficulty to enter the forensic DNA market, GeneTrace
made a business decision to not pursue this market. While the STR
milestones on the original grant were met, only the initial
milestones were achieved on the SNP portion of the NIJ grant
because of the premature termination on the part of GeneTrace.
GeneTrace Systems, Inc., developed an integrated high-throughput
DNA analysis system involving the use of proprietary chemistry,
robotic sample manipulation, and time-of-flight mass spectrometry.
The purpose of this NIJ project was to apply the GeneTrace
technology to improve the analysis of STR markers commonly used in
forensic DNA laboratories.
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