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Expand Investment in Basic Research Needed to Advance Medical Progress

June 24, 2014
In 2007, the Napier and Lane families struggled to find answers to their daughters’ developmental problems, which included impaired communication and socialization skills. Both of the girls had a disorder so rare that it subsequently became identified only by the name of the small fragment of chromosome 16 that was missing, namely “16p11.2 deletion syndrome.” Dan Pinkel and Joe Gray, researchers at the University of California, San Francisco developed microarray comparative genomic hybridization, a technology which identified the missing piece of DNA the daughters were lacking. The findings not only identified the cause of a medical condition that had plagued the Napiers and Lanes for years, it also connected them to each other, taking comfort in their daily challenges.

The initial development of the technology was supported by the National Institutes of Health (NIH). The technology was licensed and further developed by Abbott Laboratories and then sublicensed to Signature Genomics, a company founded by Washington State University- Spokane researchers. Signature Genomics helped thousands of families gain a better understanding of rare disorders like 16311.2 deletion syndrome; their SignatureChip can now screen for 255 validated disorders. The company was purchased by PerkinElmer for $90 million in 2010.

This story of progress and many others demonstrate the value of NIH-supported research in advancing medical progress and fueling economic activity. Federally-funded basic researchers and private sector innovators are partners in progress, working from the ground up to solve medical mysteries previously thought intractable.

At the University of Wisconsin, researcher Thomas Mackie observed how CT scanners rotated around patients like a spiral, which inspired him to apply the same technique to radiation treatment for cancer patients, a critical breakthrough. Mackie and his colleague, Paul Reckwerdt, relied on NIH support and funding from General Electric to refine this pioneering idea to improve radiation therapy. The decade-long investment led to the development of the TomoTherapy radiation machines. The innovative equipment proved so effective, they are now used widely in oncologists’ practices. Today, TomoTherapy Inc. employs more than 1,000 people worldwide and in fiscal year 2012 revenue exceeded $400 million.

With success stories like Signature Genomics and TomoTherapy Inc., it’s counterproductive for policy makers to shrink investments in basic research as scientific opportunity accelerates. Many Americans are deeply concerned about this decline. In fact, nearly half say the U.S. is not making enough medical progress, according to a national public opinion poll commissioned by Research!America, the nonprofit advocacy alliance. Over the last decade, NIH has lost 25 percent of its purchasing power and the agency’s total budget is now at its lowest level in real terms since 2001. Sequestration, the across-the-board spending cuts, resulted in NIH funding 640 fewer grants in fiscal year 2013 and led to furloughs and layoffs across the nation. Although NIH received a modest increase this fiscal year, the NIH budget is still lower than it was in 2010.
As NIH Director Francis Collins noted in an op-ed published in the Washington Post, “Biomedical research is at a critical juncture—a moment of exceptional opportunities that demand exceptional attention if their promise is to be fully realized.”

If only we can seize the opportunities to help more families find solutions to medical mysteries. There is so much more to learn, so many more answers that public and private sector-supported research can provide. Policy makers must re-evaluate, re-invest and re-think policies that hinder the discovery process and medical innovation.

Michael Coburn is the Chief Operating Officer of Research!America.