January 2014 Edition Vol.8, Issue 1

Three Industry Developments in Precision Medicine in 2013 Set the Stage for Broader Availability

Three Industry Developments in Precision Medicine in 2013 Set the Stage for Broader Availability

By Jennifer Levin Carter, MD, MPH


In 2013, the field of precision medicine saw significant progress that promises to propel targeted treatments and the precision medicine industry forward. Scientific advances continued with the approval of new targeted therapies, advancements in the development of immunotherapies, and more patients entering clinical trials with novel designs.

In addition, three significant industry milestones will play key roles in advancing precision medicine. The Supreme Court’s veto on the patenting of genes, the first FDA approval of the DNA sequencing device, and the recent, unprecedented success of a diagnostics company IPO are helping precision medicine gain a spotlight position within the industry of cancer therapeutics. 

The June 2013 Supreme Court decision in the case of the Association for Molecular Pathology v. Myriad Genetics, Inc. involved an important principle concerning the future of genetic testing, and the rights of companies who offer genetic testing to the public. In 1997, Myriad Genetics obtained several patents for the successful location and isolation of the BRCA1 and BRCA2 genes, two mutations that indicate a high risk of breast cancer development in women. Myriad held the exclusive rights to isolate these genes.

In 2012, the Association for Molecular Pathology challenged the legitimacy of Myriad’s patents. The court found in favor of the Association for Molecular Pathology, thus preventing companies from owning genes. This decision removes the possibility of any single company having a lock on testing of a gene; this ruling sets the stage for the broader, less expensive availability of genetic testing. In addition, this court decision prevents one company from owning all of a particular gene’s related data, which could have inhibited the innovation of new diagnostic and therapeutic technologies.  

Another significant milestone in 2013 was the FDA’s pre-market approval of a genetic sequencing platform, the Illumina MiSeqDx instrument platform. This is the first high-throughput DNA sequencing analyzer to receive FDA clearance. Illumina’s genetic sequencing instruments allow diagnostic labs to compare a patient’s genetic sequence against a sample genome and identify potentially pathogenic variations. Before these tools were available, sequencing of this caliber cost many thousands of dollars and took weeks to accomplish. In addition, tumors were analyzed one gene at a time. With this step forward, many more genes can be analyzed with one test. This opens up the possibility of identifying more treatment strategies for patients at a lower cost and within clinically acceptable turnaround times.

Illumina’s FDA approval sets the stage for more widespread integration of NGS-based molecular diagnostic tests for physicians and clinical laboratories. This will provide greater access to sequencing and resulting improvements in diagnosis and treatment for patients across a wide-range of diseases. In addition, the clinical access to these technologies may fundamentally change the way oncology care is delivered. Francis Collins, Director of the National Institutes of Health, in a Perspective comment in the New England Journal of Medicine, said that the FDA's authorization will open the door "for the development and use of innumerable new genome-based tests" and in his statement on the NIH website, Collins called the approval, "a landmark move that will help to realize the promise of Precision medicine".

The successful IPO of Foundation Medicine in September, 2013 marked a new level of excitement and awareness for Precision Medicine. FoundationOne™ is the first commercial genetic test of its kind, using next-generation sequencing to identify genetic mutations within several hundred commonly mutated gene sites in a tumor, and then matching identified mutations with relevant targeted therapies and clinical trials.  Thousands of patients globally have had their tumors analyzed, and recent company announcements have stated that the test has been able “to identify actionable alterations in 76.4% of clinical tumor specimens profiled”.  Foundation Medicine’s success with this type of testing demonstrates that additional, targeted treatment strategies based on new NGS technologies can have a potentially significant impact on therapeutic strategies and are very much in demand by patients, physicians and the broader healthcare industry, including investors.

In 2013, molecular diagnostics and targeted treatment strategies have become more widely accessible than ever before to physicians and their patients. Thus 2013 marks a key year in the transition from recognized potential to the true application of Precision Medicine at the point of care.

About the Contributor

Jennifer Levin Carter, MD, MPH is Chief Medical Officer and Founder
of N-of-One.


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