The idea of humans being masters of their own fate is as much a lie as it is true. What’s to be done if you find yourself genetically predisposed to heart failure, depression, cancer? You play the hand you’re dealt. But the desire to know what makes you — you, is uniquely human.
With a surge of direct-to-consumer genetics (DTC), people are learning about themselves on a genetic level at an unprecedented rate. People are discovering things about themselves and their family histories they never even knew were there to learn about. Even Gru, the famously conflicted protagonist from “Despicable Me” found his long-lost brother through 23andMe. DTC genetics are more than a passing fad, they are the key to better understanding ourselves, and they are here to stay.
We are in the age of “the Quantified Self,” as Erika Lietzan, JD, University of Missouri School of Law, puts it. She is a thought leader in personalized health who spoke at the Frontiers in Precision Medicine symposium held at the University of Utah on March 16. With DNA sequencing costs and computational costs decreasing rapidly, suddenly this information is readily and cheaply available. What do people do when they discover so much about themselves they never knew? Are they moved to action, inspired to take control of their own health and well-being? Or do they simply accept what in their mind is an inevitable outcome? Turns out, the answer is a little bit of both and a whole lot of neither.
Internal studies conducted by companies in the industry like 23andMe, have shown that extreme anxiety in reaction to unexpected genetic results has been low — but so have levels of changes in health behavior such as in diet and exercise. Making sure the consumer understands the information is crucial in prompting those behavior changes; otherwise patients who are not ready, or misinterpret the information, are going to be at risk for harm. “I think it is incumbent on us to prevent that harm,” said Steven Bleyl, MD, PhD, University of Utah.
What we do with the information we receive relies entirely on us. Consumer genetics have facilitated this self-exploration while providing the added benefit of helping to increase widespread awareness and education about genetics. However, over promising, false senses of security and most commonly, misinterpreting or misunderstanding genetic data are all risks inherent in consumer-driven genetic testing. And there are concerns that this kind of raw information will cause people to self-diagnose without fully understanding how all the pieces fit together. But throughout the process, the goal is to maximize the amount of value with the least amount of perceived harm. Ken Chahine, PhD, JD, of Ancestry.com, believes one way to do this is to work toward a web-based interface to help people get and “understand the same type of information that you would if you were sitting with a physician or a genetic counselor.”
“We have the right to self-knowledge, and our genome is included in that,” Bleyl said, “there is value and context to the genome, and complexity which requires assistance.” There is great intrinsic value in genetic data, but that value is enhanced when placed in the proper context, which is necessary to make the information actionable. Raw genetic data is not something easily decipherable by the general public, and people dedicate their whole lives studying how to crack that code.
Therein lies a problem: there are simply not enough hands on deck. “There are not enough physicians and genetic counselors to service the consumer demand for personal genomics,” Chahine said. “Imagine you had to consult someone every time you logged onto the internet.” There is a staggering lack of clinical genetic experts. In the United States, currently there are fewer than 5,000 medical geneticists and genetic counselors in clinical care.
Physicians that are not geneticists or genetic counselors are not prepared for this increase in demand. Even genetic counselors are struggling, with 80% indicating that they would not be comfortable counseling a patient about their DTC test results, while others refuse to discuss health-related DTC testing in the first place. Patients need guidance to have an appropriate response. Those that are not ready for the information are going to be at risk for harm, like taking inappropriate action or no action at all. “I think it is incumbent on us to prevent that harm,” Bleyl said. “[We need to] discuss needs and strategies among the medical community to meet the coming demand of genomic medicine.”
So how do we meet our patients and customers at their needs, asks Chahine. His suggestions: we can collaborate with the DTC industry to support responsible testing in areas where there is a favorable risk-to-benefit ratio and where actionability is highest.
According to Chahine, the medical community should feel compelled to do better.
By increasing the efficiency of eHealth and Telehealth, educating and supporting those non-genetics providers and maximizing the impact of the genetic workforce, the medical community can innovate on the way care is provided to those who need it.
Kamryn Broschinsky is a Communications Assistant for University of Utah Health.