Fifteen years ago, the first whole human genome was sequenced for about $3 billion. Today, there is talk of a test for $1,000. 23andMe recently announced a genetic health risk and wellness report for around $200. Browse the internet and you will see consumer-facing companies offering genetic insights into what are the best foods to eat, what type of exercise is most effective, cancer screening, and many more.
We are witnessing one of the first times in modern healthcare that a meteoric descent in cost is accompanied by an exponential increase in knowledge. Physicians and an already burdened healthcare system will struggle to keep up. Imagine if consumers could afford a home MRI study for about the cost of their monthly cable TV bill. Now, imagine them showing up at their doctors’ offices with their images and asking, “now what?”
The picture gets worse. There is an alarming and increasing shortage of genetic counselors in the U.S. Technology standards for storing and moving discrete genetic data elements are still evolving. Ethical issues abound and have yet to be addressed by policy makers. There remain huge gaps in quality and interpretation of next-generation sequencing data. There are many questions regarding the ordering of specific genetic tests, vs. panels—or even whole exome vs. genome. There is increasing interest in newer applications like the microbiome, mitochondrial DNA, and proteomics.
Many in the medical community are disturbed by the growing consumer appetite for genetic testing. They feel that the science is still too young and there is not yet a demonstrable need for widespread testing at this time.
It is worth looking at other industries to examine this conflict. Only seven years ago, Apple announced the launch of the iPad. There were many at that time who could not foresee the incredible consumer appetite for this new device. They focused on the question of why would anybody need this technology, yet the growth of the tablet market was an unstoppable force. Critics of consumer-driven genomics are similarly asking the same question. They too are confused by the difference between need and want. Today, there is increasing frustration with the current state of medical practice. Drug costs are spiraling as physicians continue to choose one medicine in a therapeutic class over another as if they were reaching into a hat. Despite huge shifts to healthier lifestyles, people are still shocked by perceived predispositions to illness that they can neither predict nor control. The fascinating lure of genomics and precision medicine at an affordable price is too hard to ignore.
The problem
And so … the inevitable clash between patients as consumers and practicing physicians is well upon us. I recently asked a cardiology colleague of mine for guidance regarding a patient who had a commercial genetic test which showed a mutation that was potentially significant for long QT syndrome—a potentially life-threatening cardiac rhythm disturbance. The patient had no symptoms, family history, or other risk factors. The heart specialist was disturbed that this was not the ordinary approach to this illness—patients are usually referred for genetic counseling only after a diagnosis is made in a traditional fashion. He struggled because there is no widespread scientific consensus, peer-reviewed literature, or accepted clinical guidelines. I think that he better get used to this scenario because it will certainly be the new paradigm.
The solution
So where do we go from here? First of all, we need to put a greater emphasis on genetic-based continuing medical education. Clinicians must be prepared to answer challenging questions, and they will need support in dealing with patient demand for confirmatory tests. Education alone will not be sufficient. We will require improvements in information technology that bring relevant genomic and phenotypic data together in an appropriate format so that it can be utilized at the point of care. This will serve as a prerequisite for new types of clinical decision support. Similarly, current initiatives focused on quality, analytics, and population health will need to incorporate these new patient-supplied data points.
Policy makers can no longer avoid this growing consumer shift. Who owns this data? Where and how is it stored and accessed? Privacy and ethical issues abound. The difficult issues surrounding insurability and data stewardship must be confronted head-on.
We must also anticipate a massive economic shift. There is no doubt that improvements in prevention, early diagnosis, better treatment, and diminished adverse outcomes will result in eventual cost savings. However, this will be offset by the near-term increase in spending as consumers demand further testing and monitoring for potential multifactorial diseases that they have been made aware of only by commercial testing. While many have pointed out the expensive cost of physician-ordered genomic testing as an argument against wide-spread acceptance by the medical community, few have questioned the bizarre difference in the cost of consumer-driven tests.
Let us keep in mind that technology as a catalyst for patient empowerment is not new. While sometimes perturbed by my patients equating learning and research with a simple Google search or brief reading of WebMD, I am more frequently excited to have discussions with better-informed individuals and care-givers. I look forward to continuing to practice medicine in this new scientific era and embrace the challenges that come with a more genomically aware public.
