Technology

Educated Patients Are a Must for Personalized Medicine to Advance

By Jeanette McCarthy, MPH, PhD

Adam Voorhes

My friends and family aren’t particularly ill — I think they are a representative cross section of Americans, as far as health and medical needs go. But I am increasingly being drawn into their health issues with questions about genomic tests for one thing or another. Despite having my finger on the pulse of precision medicine, I am finding that I can’t easily produce answers for them. And I know that telling them to ask their doctors is pointless — they probably know even less about precision medicine. Case No. 1: A family member with recurrent breast cancer wants to know what “personalized” treatment options are available. Case No. 2: A friend whose father has a factor V Leiden variant that predisposes him to thrombosis wants to know if she should get tested, too. Case No. 3: A friend who has become severely debilitated by recent symptoms that could be the result of an ongoing viral infection, bacterial infection, or noninfectious autoimmune disorder wants to know if there is a test to discriminate between the conditions.

Precision medicine seems to be all around us, and it’s easy to assume that innovations spread easily from bench to bedside and from academic medical centers to community doctors, but that’s just not the case. When I saw the recent news about the FDA’s approval of Cologuard, a noninvasive test for colon cancer, I wondered what would happen if I walked into my doctor’s office and asked to have that test instead of a colonoscopy. Many physicians are hesitant to take up these newer technologies until they have demonstrated both clinical validity and utility. Some tests are just not ready for prime time, as I found out when investigating the use of next-generation sequencing to diagnose infectious diseases of unknown origin. Physicians also worry about cost, insurance reimbursement, and the value of the tests. Most physicians will struggle, like I did, with finding simple answers about what new tests are available and how and where to order them. The result is that patients will be less likely to receive cutting-edge diagnostic tests and tailored treatments, and precision medicine will creep along slowly.

Clearly, physician education is a critical factor in precision medicine, but what can patients do to get the care they deserve? They can start by educating themselves. We often hear about disruptive forces like genome sequencing, mobile technologies, and social networks that will change the practice of medicine. At Genome, we believe that informed patients are another disruptive force. Though change is slow and answers aren’t always easily accessible, there are many examples of empowered patients who have taken charge of their health and advocated for better treatment. In the next issue of Genome, we’ll introduce you to a woman who successfully diagnosed her rare genetic disorder through her own research. Then there is the team of parents, known as Parent Project Muscular Dystrophy, who were so frustrated by research setbacks that they took it upon themselves to write a draft guidance for pharmaceutical companies trying to develop treatments for the muscle-weakening disease afflicting their children. The FDA is now reviewing the guidance.

Stories like these underscore the fact that patients need to be active participants in their own healthcare. By learning about the value and limitations of new medical technologies, through our magazine or other sources, they will be better armed to participate in their healthcare decisions and drive the field of precision medicine forward.