This article originally appeared in Techonomy Magazine, in print and digital form.
By some estimates, as many as half a million people have had their genomes sequenced—through research projects, clinical programs, or consumer services. In the next few years, that number is expected to grow quickly into the millions. This data has already contributed to major medical success stories, but it is not yet clear that genomics can overcome the significant barriers that exist in traditional medicine to achieve its potential for healthcare.
When genomic medicine works, it works impressively, helping doctors diagnose rare or novel diseases and successfully treat patients, sometimes with drugs approved for other conditions. It can provide more accurate prognoses for things like cancer recurrence or susceptibility. But it’s an entirely new form of information, and one that doesn’t fit neatly into medicine as we know it. There are several big systemic challenges that need to be addressed before genomic medicine can make a difference for the average patient. That includes electronic medical records that aren’t structured to hold DNA information, and physicians who have insufficient training in genetics.
One major promise of genomic medicine is that it could give consumers far more control over their own health. A person who learns that he or she is at significantly increased risk of developing Type 2 Diabetes or of becoming obese, for example, has more motivation to change his or her diet and lifestyle. But consumers need help incorporating genetic data into their lives, from better basic education to increased availability of genetic counselors.
Despite the challenges, genomics experts are optimistic. According to George Church, a genomics pioneer, professor at Harvard, and founder of the Personal Genome Project, “We’re at a tipping point” with genomics, where “you actually believe it could do something for you the way you believe your cell phone and your car can do something for you.” He continues: “The instant that word starts spreading…it will be very interesting to watch.”
It’s no secret that most physicians are apprehensive about genomic data. Extensive surveys in the field, as well as anecdotal data from hordes of patients, reveal that doctors are resistant to this kind of information—sometimes because they believe it holds no medical value, but more often because they are not confident in their ability to interpret genetic data and make treatment or other decisions based on it. Electronic medical record systems were not built to hold this kind of information, making it even harder to integrate into routine clinical use.
“Physicians don’t want to be surprised; they don’t want to look stupid,” Church says. “So they will push back. And if they genuinely don’t feel that it’s the standard of care—which it isn’t—they may be justified.” (“Standard of care” means the conventional approach to treating a particular disease or situation. Doctors are inclined to stick to it to reduce liability risks and increase their chances of getting reimbursed by insurance companies.) Church believes society will overcome this impedance quickly, as consumers spread the word about which doctors embrace genetic testing, just as they share their views about doctors in online rankings now.
There are signs of progress. A massive genomics effort at Geisinger Health System in Pennsylvania aims to generate DNA data on 250,000 people. The project required an entirely new approach to working with patients, including new consent forms to cover genomic information, figuring out how to handle unexpected findings of important medical data, new sorts of links to patients’ medical records, and more. This is a massive investment for Geisinger, but as projects like this one work out the kinks, they could provide a template for other healthcare institutions that don’t have the resources to start such programs from scratch.
Getting physicians on board will take time. Medical schools today are doing more to implement education around genome sequencing, so newly minted MDs from now on are likely to have open minds about using this kind of data.
Steven Murphy, a physician and managing partner of the Diagnostic and Medical Specialists of Greenwich in Connecticut, has carefully built genomic medicine into his practice. He believes that reimbursement policies and clinical labs will play important roles in the transition. “If labs can make quite a bit of money, they will make sure that doctors order the tests,” he says, noting that educational programs and community support are two common methods used by labs to promote new sorts of tests. “Right now genomic medicine is nowhere near the standard of care in many fields, and is the standard of care in very few fields,” Murphy adds. “I believe that in the next five years, that will reverse itself.”
Genome interpretation services will also be critical. Genome sequencing routinely reveals millions of genetic variants in each person’s genome, including hundreds of thousands that may be unique to each individual. Even the most motivated physician couldn’t hope to be an expert on all of those variants, so data analysts around the world are working to build automated interpretation systems that could provide useful guidance about their importance and what biological impact they might have.
As doctors and medical institutions brace for the onslaught of genomic data, consumers have plenty to do as well. If your last encounter with genetics was in high school biology class, you’re not alone—but you’re probably also woefully underprepared to take advantage of DNA data that could help you lead a healthier life.
Initiatives like the Personal Genetics Education Project at Harvard are making strides in getting consumers ready for this kind of information, with efforts aimed at young students, teachers, Congressional representatives, and even Hollywood writers and producers. (It assists them in realistically portraying genetics-related topics.) Biologist Ting Wu, founder and director of the project, says that when her team goes to classrooms, their main objective is just to foster an interest in DNA. “Our top goal is to convey a sense of confidence that genetics is accessible to anybody; that their opinions, even if they’re not scientists, matter and are valid,” she says.
Whether consumers get genomic information on their own or through a doctor, the best tool for figuring out its relevance is a genetic counselor. These are the relatively scarce medical professionals who are trained to interpret genetic data and to help people understand what they could learn, what they won’t learn, and how to use the results they get. Today there is a severe shortage of such counselors. That will become a major obstacle to proper use of this information as more people gain access.
Even as efforts are underway to integrate genomic medicine with routine healthcare, attention must be paid to the substantial looming ethical questions. Genetic testing has gained traction fastest in prenatal care, where it is quickly displacing conventional screening tests for fetal disorders. As these tests shift from looking at a few genes to a baby’s whole genome, we may learn more than we bargained for.
Parents may face extremely hard choices about terminating pregnancies. Doctors will struggle with what information parents should get access to. And ultimately society will have to debate how much it values biological diversity versus specific goals of altered health, athleticism, intellect, and more.
We also owe ourselves a serious debate about our right not to know things. Should people be able to opt out of receiving results for their susceptibility for, say, Alzheimer’s disease? Conversely, will there be a point at which the societal need to allocate resources for taking care of a growing population with Alzheimer’s will outweigh an individual’s right to blissful ignorance?
Esther Dyson, a philanthropist and board member of the Personal Genome Project, contends, “It is your data. It is your right to look at it, understand it, share it—or not share it.” But she thinks concerns over people’s reaction to genetic results are overblown. “I think more people commit suicide or have heart attacks over their tax forms than over genetics,” she says.
For his part, Church sees the imminent public acceptance of genomics as game-changing. “Every now and then, consumers embrace very complicated technology,” he says. “It breaks through the priesthood that can build up around really old technologies. Probably the most important feature of genomics is that it’s new.”