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Shrinking cost of gene sequencing propels development of personalized medicine

July 31, 2014

Laboratory Researcher at Work

A growing number of health care providers and scientists are realizing that personalized medicine is a more effective approach to patient care compared to traditional strategies. While the latter tends to group patients according to disease type, personalized medicine prescribes therapies based on individual genetic profiles. One area of health care that can specifically benefit from personalized medicine research is oncology because tumors can have different mutations, even among patients who have the same malignancies.

Diagnostic companies have been exploring this concept for years. Prominent examples include tests that analyze copies of the HER2 gene among breast cancer patients. The presence or absence of this gene can inform doctors' treatment decisions. What will propel this innovation forward is the fact that gene sequencing technology is operating with higher throughput at a lower cost, as reported by Genetic Engineering & Biotechnology News.

'Explosion of genomic information' will lead the way
According to the news source, genetic diagnostics in oncology have come a long way – from matching patients to medications that target cancer-driving mutations, to helping doctors form prognoses about which patients are likely to experience a relapse after initial treatment of their tumors. While some of these diagnostics depended on detection of lone genes, next-generation sequencing is significantly expanding the scope of analyses for scientists, as well as diagnostic companies that wish to develop new products. This is possible because the cost of sequencing dozens of genes today is about the same as it once was for one or two genes.

"The idea of a single marker linked to a single drug in an era where an individual may need to be tested for two, three, five, 10, or 20 markers really doesn't fit for delivering targeted therapy, given the explosion of genomic information available," Vincent Miller, chief medical officer of Foundation Medicine, told the news source.

This also opens the door for businesses that want to manufacture tests based on non-tumor specimen sources for genetic analyses, such as urine, blood or cerebrospinal fluid. All of these specimens may contain free-floating tumor cells, exosomes or cell-free DNA, according to the news source.

Current research projects being funded by the federal government may even go so far as to start sequencing proteins. According to the National Cancer Institute, $4.8 million from the Recovery Act is going toward the Proteome Detection and Quantitation Project, which aims to map between 250,000 and 1 million proteins that are potentially linked to disease.

Regardless of genetic source, diagnostic companies that want to take advantage of affordable next-generation sequencing will need a large number of human biospecimens from patients with specific medical conditions to allow them to identify and understand the genetic variations that lead to personalized medicine. iSpecimen's sophisticated technology allows them do this by linking millions of clinical discards yearly to their de-identified medical records to find precise specimen matches for research programs.