Wellness relates to making a conscious effort to follow a lifestyle that maximizes health.   To make good wellness choices we need credible health related information. What if one source of information is knowledge of your own genetic sequence? This contentious area of knowledge has just started to appear in the public domain. There are numerous companies in the United States that are directly, or indirectly, involved in the personalized DNA sequencing business. Pathway Genomics, a San Diego based company, has been offering “direct to the consumer” personalized DNA sequencing for over a year. Pathway Genomics currently offers genetic analysis for 9 drug interactions, carrier status of 37 recessive genetic conditions, and 24 complex health conditions. After a brief review of DNA and genomics, this article will provide an expose on the controversial area of personal DNA sequencing.

DNA is a very large molecule that codes for the genetic makeup of your body. DNA is formed from a series of building blocks, called nucleotides, into a set of  long nucleotide chains that determines the blueprint for your development, from conception to adulthood. Each part of your body is formed and operates based on the instructions encoded in your DNA. Genomics is the study of the entire DNA sequence of an organism (the genome) and how the genome functions, including the regulation of gene expression in health and disease. The human genome is approximately 3 billion nucleotides long. The study of genetics and genomics will provide deeper understanding of living organisms and will allow the discovery of better diagnostics and treatments for certain disease conditions.

In June 2010 the New York Times reported that the FDA had announced plans to regulate commercial genetics companies like 23andMe and deCODE. The FDA sent (and posted) letters to five major genetics companies, claiming their services fall under the FDA designation of a “medical device” and must therefore be regulated federally. The FDA is calling on each company to either apply for federal approval or explain why they are exempt, igniting debates over how the dawning age of personal genetics will fit into existing structures of medical regulation. Among the letter recipients was Illumina, a San Diego based company that sells DNA chips to other companies to use (e.g. Pathway Genomics and 23andMe) and Knome, which offers complete genome sequencing and has scanned more genomes than any other company in the world. This round of letters wasn’t exactly unprecedented; in May 2010 Pathway Genomics received a similar letter.

The acceleration of discoveries in genetic technology is dizzying. The new frontiers in the genetics revolution – the amazing success of prenatal screening, the dawn of synthetic genomics, and new insights into disease genetics – are not just for the curious layperson. Legal and legislative institutions have faced the new challenge of making unprecedented decisions about how to regulate these emerging technologies.  In this case, does a DNA kit count as a diagnostic tool? Personalized DNA sequencing brings up ethical and political questions that didn’t exist twenty years ago. Our government has been scrambling to address them as they emerge.

The issue at the center of the FDA’s crackdown – what qualifies for federal regulation – has traditionally been determined by how widespread a device or service is.  Generally, FDA approval is required for any medical device that is widely distributed for use in laboratories, doctor’s offices, or sold in stores (Pathway was attempting to sell saliva kits at Walgreen drug stores).  Companies like 23andMe argue that their genotyping takes place in-house, and should therefore be exempt from federal red tape (the FDA pointed out that the company’s saliva kits are sold on Amazon.com). Esther Dyson, a board member at the company, has even called the FDA’s position “appallingly paternalistic.”

But distribution isn’t the only issue at stake.  A more interesting question is whether your personal genome is currently a tool for diagnosis – and if not, when will it be a diagnostic tool. The state of the union is less than perfect. Commercial genetics companies interpret their customers’ genomes by means of correlation studies; any particular genotype is “associated” with a disease because it is found in higher proportions within diseased populations. This kind of probabilistic genetics isn’t the same as understanding the molecular mechanisms by which genes act, much less the environmental factors involved in a final phenotype. Today, with a few exceptions, a genome scan cannot diagnose much more than statistical likelihoods.

But this will change. As genetic testing gets cheaper, research will accelerate and begin to unlock how gene expression contributes to certain diseases. As a genome scan becomes a real diagnostic tool, it will need to be regulated just as other medical devices are. In this sense, the FDA’s move is preemptive to the changes which will come. 23andMe’s resistance has more to do with the open-source philosophy it shares with its partner, Google. The argument is simple -- It’s your genome, you should have unregulated access to it. Putting peoples’ health into their own hands resonates well with the brave new world these companies envision: less top-down control, no administrative middle man, and all that. It also on some levels melds with the wellness philosophy. It’s only information after all. The FDA here plays the part of big brother, prying into what is frankly between you and your commercial genetics provider.

However, do we want a “Wild West” attitude when it comes to genetic technology? Probably not. The DNA sequencing industry is changing so rapidly, and in such unpredictable ways, that regulation will be essential to addressing the emerging ethical and social concerns that accompany such powerful technology. But the danger is that regulatory systems are inherently conservative, notoriously slow to adapt to rapidly changing fields – information technology and biotechnology being prime examples. Outdated and sluggish regulation will restrict innovation, slow progress, and increase costs in a tangle of decades-old red tape.  The FDA must coevolve to meet the unprecedented needs of regulating a fledgling market without clipping its wings. Even if a genome scan can’t currently determine very much, that doesn’t mean people aren’t already making medical decisions based on their results. This trend will increase as our understanding of gene expression gets better. The accuracy of these tests should come under closer scrutiny as they become more and more instrumental to our diagnostic processes and healthcare decisions. Commercial testing will need to be regulated eventually – what remains to be seen is whether the FDA can adapt to this new landscape as fast as it changes.