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.