This is the fourth installment of a five-part series titled “Diagnosis Overkill.”
Genomic sequencing is playing a growing role in genetic sequencing for research and drug development. Today, patient testing is generally reserved for those who have already had a preliminary diagnosis, such as a rare disease or cancer. But Silicon Valley startups are not aiming to play a small, complementary role in helping doctors make decisions. They’re aiming to disrupt the medical diagnosis altogether by going straight to the healthcare consumer. These genetic tests don’t arm consumers with actual medical diagnoses, rather they report the risk of carrying the genetic traits for various diseases like Alzheimer’s, Parkinson’s, Celiac disease, hemochromatosis, and others.
Certainly consumers deserve the right to know their own genetic material so they can plan their lives accordingly, particularly when they face so much variation in treatment options, costs, and outcomes. One obvious challenge is that these tests are not definitive – they provide people with probability, and the vast majority of people are really bad at understanding probability. Administering tests on their own does not guarantee a value-add for patients. Math and science are not the same as health care.
But, showing people a numerical percentage next to an ominous disease makes for a great business model if you’re a company aiming to sell tests and procure patient data. And thus, the hype cycle is in full swing in Silicon Valley. At the NewCo Shift conference, several genomics startups cited the same chart showing how sequencing costs have dropped dramatically over the last 15 years. One vendor shared that their price has come down to $249 per test. PatientsLikeMe has agreed to bring genomic testing services to its hundreds of thousands of users from a Chinese firm who also invested $100M in the company. The list of direct-to consumer testing companies goes on and on. The prevailing thinking regarding testing for testing’s sake is captured in the ongoing debate between Mark Cuban and medical experts around routine blood draws.
Health insurance companies have quietly been encouraging these tests to help find high-risk patients sooner. Vendors like Interpreta and BaseHealth are packaging gene testing into standard analytics and quality improvement tools. Aetna has claimed a basic genetic test (not full genome sequencing) by Newtopia helped their members lose weight through personalized diet and exercise plans, an approach that one industry leader immediately called out as “stone soup.” Even without delving into the efficacy and impact of these tests, it’s clear that industry is conditioning consumers to embrace genetic screenings as part of routine care.
Targeting screenings at newborns and even pregnant mothers seems to be a popular goal. One of the speakers at the conference, talking about a rare heart condition, proclaimed that mass genomic screenings should help to “put some of these patients on statins by age eight.” This bullish outlook is what we’ve come to expect from Silicon Valley – along with the lack of practical thinking, pragmatism, and patience required to bring these new tools into standard medical practice holistically and sustainably.
For starters, genomic data themselves are not optimized for the clinical trenches because they’re being developed in entrepreneurial research silos. A clinician at the Children’s Hospital of Pennsylvania (CHOP) said for test results, “[t]he current state of art is a seven- or eight-page PDF.” CHOP is finding that primary care doctors are undertrained in genomics, and that the lack of up-to-date CDS tools are a substantial barrier to integrating genomic testing into clinical practice.
Besides recreating the same interoperability challenges healthcare has yet to overcome, this approach evokes Dr. Singh’s research on the process breakdowns that lead to misdiagnosis and overtreatment. Until doctors are consistently able to digest test results, verify their accuracy, discuss them with specialists, compare them against the latest research, it’s inevitable that patients will get misdiagnosed and mistreated.
It’s already happening. As one Mayo Clinic researcher put it, “we’re starting to see a lot of fumbles,” such as the case of a man who had a defibrillator implanted based on a misinterpreted genetic test results. Healthcare also faces a shortage of genetic counselors, whose role is to help consumers understand, interpret, and act on their test results.
It’s not inconceivable to imagine a consumer-driven future where people buy screening kits, find something, and contact a cancer center or drug company directly before they’ve interacted with a clinical team. The FDA has historically shown a willingness (if not the actual ability) to step in and shut down fraudulent marketing claims or correct bad corporate behavior. However, they don’t always catch them all – like Proove, who was found buying off physicians to pump up profits.
What will happen when genetic testing companies start pouring millions in advertising to consumers on television and the web?
Here’s Dr. Eric Topol chiming in again: “I wish the FDA and Consumer Reports and other public citizen watchdog agencies could provide this honest, objective recording and advise the public, but unfortunately, it isn’t being done.”
Under our new, business-friendly administration, we’re yet to see what healthcare regulation will look like, but it’s safe to say we shouldn’t expect much. We may have just gotten a hint of what’s to come: The FDA just issued a one-of-a-kind press release in which they not only approve 10 genetic risk screenings from genomics pioneer 23andMe, but also provided them with an exemption to the normal pre-market requirements for subsequent tests. This means that 23andMe can skip the stringent approval process in releasing subsequent screening tests. It’s early – the comment period in the Federal Register is still open, but we should expect this to trigger a veritable arms race among genomics vendors.