Fourteen years ago, researchers announced that the Human Genome Project, an international research effort launched in 1990 to map all human genes, had completed a high-quality sequence of essentially the entire human genome. Since that moment, the medical community has experienced staggering growth in genomic science coupled with high consumer demand in this area, which is blazing a trail forward for precision medicine.
The price of testing the exome — the 1.5 percent of the genome that most directly relates to medical issues — and even full genome testing has become relatively affordable and consumers are seeking out these tests in droves for everything from prenatal testing to more targeted cancer treatment.
The Federal Drug Administration’s recent ruling to loosen restrictions on consumer genomic tests such as 23andMe has cemented the fact that we have fully entered a new age of medicine. But, as these tests become more accessible, they are causing massive headaches for physicians; many of whom see consumer genomics as a catalyst for unproductive patient conversations, expensive testing, false positives and unnecessary procedures.
Physician resistance to medical practice changes is common and reasonable considering trends in care come along every year that are later found not to be useful, or turn out to be passing fads. Genomics and personalized medicine are clearly here to stay, and no credible expert doubts that.
Our challenge today, therefore, is to understand the nature of physician resistance to personalized medicine, and to help the provider community see that we do finally have the knowledge and tools available to us today to make it practical to incorporate these new branches of medicine into daily practice.
A Snapshot of Genomic Medicine’s Reach
To start, let’s consider a real-life example that illustrates the challenge for physicians today. A patient who had full exome sequencing performed by a direct-to-consumer offering brought his doctor a test that showed 3,000 total variants, including 39 pathological, seven likely pathological, 89 of unknown significance, and 500 likely benign variants.
While this patient was confused and a little scared by the findings, his doctor was mostly frustrated. He knew that most, if not all, of the “pathological” variants would likely be clinical red herrings that could get his patient into tests and procedures much more likely to do harm than the genetic findings themselves.
He knew that trying to communicate the probabilities and uncertainties around such test results, and the risks inherent in unnecessary testing, would be very difficult. Most frustrating of all, he knew that there probably were a few nuggets of information in that test that could really help his patient avoid or minimize future clinical problems. However, he had no practical way to identify and use those findings, much less remember them every time a new relevant research finding came out in the journals.
This kind of story is increasingly common in medicine today, and it is completely understandable that physicians are wary of this new direction in medicine. These are very difficult questions and considerations, but they are not going away and we cannot shy away from them.
Tech Makes Precision Medicine Possible
The good news is that information technology is quickly catching up with personal genomic testing and we have reached a juncture where making sense of this data at the point of care is possible, practical and prudent.
Several key technologies have matured to the point where all of precision medicine’s heavy lifting can be automated.
Hospital electronic medical records (EMR) are capable of capturing and sharing relevant clinical conditions, hospital lab systems capture and store personal genomic data and metadata, and pharmaceutical companies and research labs have ever-expanding databases of cross-referenced and searchable data.
Brought together, these foundational elements can match clinical conditions from the EMR with genomic data from the lab with relevant research findings, making that data actionable at the point of care, and available to be continuously checked against the latest research findings.
This may sound like a nice vision for the future, but it is actually a reality today with many leading provider organizations leveraging just this kind of technology to make precision medicine practical for practicing physicians.
Forging Ahead with Genomic Medicine
Let’s look again at the patient who had his exome sequenced. The test uncovered a significant variant for warfarin sensitivity, meaning that if this patient required that particular blood-thinning medication, he would need a much lower dose to avoid a dangerous bleeding event.
This discovery is irrelevant at the moment since the patient does not need this medication now, but what about two years from now?
Moreover, what about the possible relevance for the patient’s genetic relatives? If the doctor and the health system know about this sensitivity and fail to remember it in the future, there could potentially be very serious implications for both the patient’s wellbeing and the provider organization’s liability.
Dramatic and lightning-speed discovery, plummeting costs and consumer demand are just part of genomic medicine’s exciting paradigm shift that is well upon us. We cannot afford to sit by and observe — we must act now.
We must educate ourselves and our patients, we must retool our industry and we must re-examine timeworn workflows.