At last week’s 5th annual Consumer Genetics Conference, hundreds of scientists, clinicians, app developers, and analytical experts convened to talk about DNA analysis for healthcare and consumer applications. The good news: legions of clever, highly motivated people are working hard to make sense of the human genome and help the rest of us lead better lives. The bad news: major impediments stand in the way of free-flowing, useful genomic information. Here are the top five hurdles to be cleared before you will have ready access to your DNA information so you can improve your health and your life.
1. Consistency: Benign Always Means Benign
Years ago, scientists thought the real challenge was sequencing DNA; as it turns out, interpreting the results of a sequence is the real hot mess. Several scientists and clinicians have shown that DNA variations can be reported differently depending on which computational tools were used to analyze a genome. As you can imagine, DNA sequence doesn’t mean much when one tool gives you different results from another. There’s a crying need for better quality control in analysis. A top-notch team from the National Institute of Standards and Technology and other organizations has started a consortium to tackle this very challenge, but achieving results may take years.
We also need guidelines for improved clinical consistency. Studies show that in evaluating the same DNA mutation, one lab might call it “benign” while another calls it “unknown”; worse, one might call it “benign” while another calls it “pathogenic.” Currently, these calls tend to be based on how each clinical lab’s staff interprets reports from the scientific literature, but clearly this needs to be standardized. Cholesterol would not be the useful biomarker it is today if doctors hadn’t agreed that a score of 300 was bad and a score of 180 was good.
What you can do: Until interpretation tools and clinical labs offer a more consistent, quality-controlled approach to DNA results, take any genetic report with a grain of salt. As in getting a second medical opinion, there’s no harm in having your DNA retested by another lab to be on the safe side.
2. Insurance: Where Are the Genetic Experts?
Among medical device or test providers, the view tends to be that if insurers won’t cover your product, it might as well not exist. This is true for genetic tests as well, since many people can’t afford the thousands of dollars it might cost to run a single test. Unfortunately, most people at insurance companies who determine whether a new test will be reimbursable are not experts in the very new field of genomics.
Also, insurance providers evaluate tests based on whether they let you make a real change; they want to see that something has “clinical utility” or is “medically actionable.” The downside is that a test won’t necessarily pass that bar even if it allows you to make other important changes in your life (such as buying long-term care insurance after finding you have increased risk of developing Alzheimer’s).
On a related note, a serious shortage of medical geneticists and genetics counselors—the people expert enough to tell you what the results of a genetic test mean—also compounds the problem. Without adequate staffing of genetics experts, insurance companies may be less likely to approve DNA-based tests out of concerns that individuals won’t be able to make sense of results anyway.
What you can do: If you’re in a situation where genetic testing may help, be sure to ask your doctor if there are any tests available, whether or not they’re covered by insurance companies. Many physicians assume patients don’t even want to know about tests that will require out-of-pocket payment. Oh, and tell your kids to consider a career as a genetics expert.
3. DNA Data: Storage and Access
When scientists imagine a genomic world, they envision people having their genome sequenced, possibly even at birth, so they can refer back to it throughout their lives. When data experts imagine that world, they think, “Where is the data going to live?”
It’s a fair question. Thanks to strict regulations of healthcare data designed to protect patient privacy, something as simple as adding a genome sequence to a hospital’s data storage becomes problematic, if not impossible. Electronic health records have not been created to hold large amounts of data, so your genome sequence will have to live elsewhere. That, of course, begs the question: whom would you trust to store the genetic code that makes you you—possibly for as long as you live? A number of companies will likely get into this space, and new regulations may arise to handle privacy and security issues. But in the meantime, it remains a huge obstacle.
There’s also a debate brewing over whether consumers should have direct access to their DNA data or whether only physicians should be able to look at it, doling out relevant information as they deem appropriate. This war will be waged along cultural lines; the traditionally paternalistic medical establishment is already making its case for a gatekeeper scenario, while other groups are pushing to free the data.
What you can do: Nothing, unless you happen to run a major computing company. In that case, ask your R&D division to look into secure, long-term genome data storage.
4. Take Charge: Be a Consumer, Not a Patient
Many of the discussions and challenges in the field now are happening outside the view of consumers, and that’s a real shame. By all accounts, consumers are very interested in what they can learn from their genomes: Ancestry.com’s DNA offering now has more than 200,000 customers, and when National Geographic launched its DNA-based ancestry product in 2005, it sold 10,000 kits just on the first day. When it comes to medical information, study after study has shown that people receive their genome results with equanimity, contrary to fears among experts that test results could cause life-altering distress.
When it comes to fitness or financial investment or entertainment, consumers are proactive and motivated to find the best solution for themselves. When it comes to healthcare, many of these same eager consumers become “patients”—passive, deferential, uninterested. All sorts of problems are arising because consumers are not more demanding about their genomic data: genetic tests are not being incorporated into clinical use; physicians are jockeying to be intermediaries between people and their DNA information; legislators have little incentive to pass strong consumer protection rules about genetic data.
Much of this has happened because people think genetic information is about treating sick people, when in reality it will ultimately be a way for all people to learn about themselves, maintain or improve their health, and make important lifestyle choices based on evidence about their susceptibility to diseases and other conditions.
What you can do: Take action. Be demanding. Write to your congressperson or news organization or insurance company and let them know how you feel about your genetic rights. You may want full access to your genome, or may think it best that a doctor be involved. Whatever your viewpoint, now is the time to join the conversation.
5. Biology: Still Learning
The field of consumer genetics is still in its infancy. Scientists will need to make major strides in understanding more about DNA and its role in biology, studying millions of people’s genomes to figure out which sections are important and what they reveal about our health, ancestry, and more. As one speaker at the Consumer Genetics Conference put it, the genome has a lot to tell us—we just haven’t figured out the right questions to ask.
What you can do: Be patient. And if you feel so inclined, donate to a nonprofit research organization, or participate in a clinical trial or research study. Scientists are working hard and need all the help they can get.