The genomic era is here, and we are already behind by Keegan Kelsey

Back in January an announcement was made that will lead to massive change in how we interact with the world. You probably have no clue what it is or what will happen because of it.

Illumina, a major force in the sequencing world, quietly let it be known that, through economy of scale, it is now possible to have the sought after $1000 genome. Illumina stock (ILMN) has understandably shot up.

If the stock market doesn't convince you, go to the nearest magazine rack and pick up a copy of the March/April MIT Technology Review. 50% of the current edition is on how genetics is being leveraged by business. The copy header, "The Smartest Company in the World. And it's not Google*," is in reference to [ spoiler alert  ] the high-achieving, Illumina.

Genomic data is slated to cause a major shift in how many decisions are informed. Fields ranging from agriculture, to bioengineering and healthcare will all notice the impact of genomic data.

A specific example in healthcare. This data has long been considered crucial in healthcare and necessary for tailoring treatments to an individual; a path to precision medicine. Genomic data will soon flood into medicine and the business of healthcare whether people are ready for it or not.

Think about it: Right now, pharmaceuticals are prescribed based on factors such as weight, gender, and family history. These are instructive factors derived from population-based estimations, and they don't always predict how you will interact with the drug. Soon, you should be able to walk into your physicians office and, through an informed genetic screen, be prescribed a wonder drug based on your own personal enzyme kinetics; increasing the chance you have a favorable outcome. One example of a drug to likely benefit from this type of informed genetic testing is Warfarin, an anticoagulant that has major negative impact if dosed incorrectly.

The hard news. Healthcare professionals and policy makers have no clue how to deal with this information: It is a massive amount of data and requires a unique education to fully comprehend it; one that is based on probability, statistics, computer science, and biology. Importantly, it doesn't fit nicely into any conventional framework. Of additional concern is the use of this data has numerous implications that are tied to ethical, legal, and social implications - much of how it will impact our world simply can't be understood right now.

The result. There is a unique climate that is being created and both policy makers and the public are, for right or for wrong, starting to cherry pick battles with genetic pioneers. As an immediate medical example: The direct-to-consumer company, 23andMe, has experienced uninformed regulation by the FDA. It is clear the FDA has good intentions and wants to protect a vulnerable consumer, however anti direct-to-consumer arguments put forth by the FDA seem to have little justification. For instance, the FDA believes consumers that directly receive predictive health related information will end up making decisions without physician involvement; implying some type of unknowing self-harm and potential black market double mastectomies. Kind of extreme, right?

I prefer to think that, as you are inherently interested in your own well being, you tend to be your own best advocate. Having access to your own genetic information and personal health predictions provides you with a framework to navigate the healthcare field. My opinion is that this information will act to open a platform to asking targeted questions about your health, creating space for an informed conversation with your physician; conversations that have previously been ignored or avoided. I think the potential positive health outcome to this data is huge and outweighs extreme scenarios described by the FDA, especially scenarios that have little data backing them.

I don't want to be too cavalier here: The consumer needs to be both protected and well informed. Stated bluntly; unprotected and uninformed consumers will be taken advantage of. It will not be easy to shape policy that both protects a consumer and still allows an avenue for companies to explore and succeed in this area. I think it is possible to achieve, however.

The bottom line: Genomic data is a new source of information and simply doesn't fit into our regulatory or healthcare system; as these systems currently exist. The fact that there is no fit to the current system won't stop the flow of genomic data, either. Dialog must be opened up and policy makers need to start forming a structure for how this new genomic data will be dealt with. To ignore it or treat it as any other type of data will lead to unnecessary harm to the consumer.

Disclaimer: I have no direct financial interest in Illumina nor with any genetic testing company. I am a PhD candidate in the Field of Genetics, Genomics & Development at Cornell University and have inherent intellectual interests in this area.

Business of the sciences: ROI for basic research is high, but risk is too large for any single company by Keegan Kelsey

Federal funds for basic research have recently slowed compared to prior trends, placing funding concerns on the minds of scientists. Specifically, long term state of funding is a source of concern for early career researchers; researchers like me.

However, it shouldn’t just be a concern for someone like me. It should be a concern for everyone. So much of one's daily benefits in life may be traced back to knowledge gained from basic research.

Through a science policy course (mentioned in my last post), a group of us have been making an effort to detail arguments as to why a slow in government funds should concern everyone. These arguments will be published along with addressing how we, as scientists, need to get better at advocating for the sciences.

Although there are many reasons and examples as to why research endeavors are justified, less publicized are the financial returns on investing in basic research.

One of my favorite return on investment (ROI) examples is the Human Genome Project (HGP). The HGP was an NIH funded initiative that mobilized a massive number of scientists to publish the full sequence of a human genome (available here). Not only has the HGP contributed to invaluable knowledge and health diagnostics, financial returns have been estimated to be an astounding 141:1.

Official HGP funding started in 1990. Total investments spanned 13 years and equated to a sum of $3.8 Billion, or 1.5% of the total NIH and NSF budget across those years. With a return estimated at $796 Billion - a return that is more than the combined NIH and NSF budget allocations since inception of each agency (see figure) - this single example alone financially justifies basic research.


Note: Data generated for this figure came from budget offices of the NIH and NSF. NIH received first budget allocations in 1938 (NIH was founded in 1887), while the NSF was founded in 1950.

Funding basic science not only generates knowledge and fosters innovation - it is an investment that makes serious money. While it is clear basic research is financially worth investing in, less detailed is why our government needs to supply the investment capital.

To frame this differently: Why aren’t companies or individuals pouring cash into basic research efforts, effectively removing a need for government supplied funds?

William H. Press, President of AAAS, recently published a terrific piece outlining why: The nature of return from basic research is that benefits (both human and financial) do not simply and neatly come directly back to the initial funder - returns are spread out to individuals across the world.

Individual companies have resisted investing in basic research because the financial risk is too high and the reward is too low for any single company to take on. Government is therefore necessary to fund the majority of basic research endeavors.

If you support the idea of basic research and believe the benefits of science extend beyond a financial return - or if you think financial return is enough -  then it should be very clear that current government funding efforts need to change. A plateau of funding is simply inappropriate and dangerous to the future of science, especially given past performance of the business. Individuals and companies cannot pick up the slack: Funding of the sciences is necessarily a large group effort.

Advocating for science policy: Learning how through doing by Keegan Kelsey

As a graduate student, I have been fortunate enough to take my pick of classes here at Cornell and expand into areas that are taught by leaders within the field. These courses often provide new perspectives and insights; occasionally giving rise to new passions. One course this semester, Science Policy Bootcamp: Concept to Conclusion, has been especially motivating.

Led by Chris Schaffer (Department of Biomedical Engineering), this course has focused on how to advocate for science policy by actually advocating for science policy. Scientific topics were researched, and agendas were strategized and acted out. To sway opinions on a topic, small groups spent efforts either writing Op-Eds, bill amendments, or lobbying various levels of government.

Fresh off a year as a prestigious AAAS Congressional Fellow, Chris is more than qualified to run this course. Working under (now Senator) Congressman Edward Markey, Chris gained experience and insight into the policymaking process, and has been transferring that knowledge back to our class. On top of this, Chris was truly motivated by his experience in D.C. - and his excitement has passed on to us.

While the class is rounding out for the semester, my excitement for policy isn’t slowing.

Our small group agenda, Direct-To-Consumer (DTC) genetic testing, has taken a wild turn recently. There are multiple concerns surrounding DTC genetic tests, however an individual’s personal genetic information has the potential to inform disease prevention and reduce healthcare costs.

Initial efforts on our part were to lobby New York State government to allow access to companies like, 23andMe. New York State is unique amongst the states in that it is illegal to send any biological sample through the mail without proper state laboratory certification. This effectively blocks an average individual from access to their own genetic information. Virtually all other states have allowed access to 23andMe.

While this seems an extreme measure by a state to protect the consumer, the Food and Drug Administration recently wrote a warning letter to 23andMe notifying it is in violation of federal marketing regulations. Clearly concerns about these services extend beyond a single state.

Personalized genetic testing companies are in a period of uncertainty. Genomic data and storage is becoming pervasive, more reliable and less expensive. This data will soon be a driver of predictive efforts in health care, however the type of information is novel and people, including most health care professionals, simply do not know how to use this information.

Given my current PhD studies in genetics, I see how quickly the genomic era is coming. It is exciting and it is also concerning. The rush of data is starting and will soon explode, however consumer protections and most health care professionals are too little informed to be appropriate and effective.

I believe genetic-based health information has potential to help lives and this is worth advocating for. I also believe it may be done in a way that both protects the consumer and limits a company’s barrier of entry into market - keeping genetic information accessible and affordable.

Future blog posts will continue to highlight this theme of genetics and policy. Additionally, I will post about general science driven policy and the process of advocating for a specific agenda.