On Tuesday night, NextGen Med presented a discussion panel on “The Role of Direct-to-Consumer Genetics in Patient Health” at Taubman Health Sciences Library. NextGen Med is a group of medical students committed to inviting local and global leaders to discuss current challenges in medicine with the University community. The discussion panel featured Robert Gentleman, vice president of computational biology at 23andMe, and David Ginsburg, professor of internal medicine and human genetics at the University.
“Direct-to-consumer genetics” are services, like 23andMe, that provide their customers with data regarding their genetic makeup. 23andMe, the focus of the discussion, provides customers with data on their ancestral history and background, as well as insights on customers’ health risks, carrier status, traits and wellness by analyzing, compiling and distilling information extracted from the customers’ DNA.
They obtain a customers’ DNA through a saliva sample that is collected in a test tube and sent through the mail, as Gentleman explained.
“You purchase your [kit] online, and a little while later it comes to you in a box. You open the box and there is a pretty big tube for spit. You go online and register your kit, seal it up and put it back in the mail and it is sent to our lab. These days it is about two to three weeks turnaround time in which you will get an email for us and you can go online and look at your report,” said Gentleman.
This report presents data based on what a specific customer purchased from 23andMe. It will either contain a report on your ancestry, or it will be a report on both ancestry and health indicators.
In 2015, 23andMe was granted authorization by the U.S. Food and Drug Administration to market the first direct-to-consumer genetic test. In 2017, the FDA granted 23andMe the ability to also provide genetic risk information for certain conditions.
Gentleman explained the process of obtaining FDA approval for their services.
“We are in constant discussion with the FDA around getting more reports to our product and getting them approved. The big part of the approval with the FDA is typically not the validation of our arrays, micro-arrays have been known to work for quite some time and they are amazingly accurate,” Gentleman said. “The big part of the approval process is typically around creating the report and making sure that we do testing to be sure that [customers] can read the report and understand the content of it.”
Making the customer and possible patient aware of what these reports actually means is something that was debated. Ginsburg drew on his own experience many times with patients who would come in worried about what they saw on their 23andMe report.
“From my clinical experience, most of the results from these reports are not actionable in general. For the patients I have seen come in from a 23andMe test, we have just spent time explaining why it is nothing to worry about and not actionable and why you do not have to do anything,” Ginsburg said. “From our perspective, it probably created more work and counseling burden that could have been avoided.”
LSA senior Thomas Dent mentioned that the misunderstanding of patients is something he had not thought of prior and was a main takeaway of the talk for him.
“I began to wonder if it is ethical to give the consumer this information with the very high likelihood it could be misleading,” Dent said. “I am a 23andMe customer as well, and I am interested in genetics, so I made sure to read the manuals given, but I could totally see how someone who got this service as a birthday present could just hit the ‘next’ button ten times and get through the manual. I can see how it is very possible that misleading results can get into the hands of the customer.”
Dent then suggested what could be a possible solution to this sort of problem that he wishes to see in the future.
“I hope that in the future you could implement genetic testing into yearly checkups,” Dent said. “It could become part of the medical profile. Instead of a third party having to come in and [the patient] pays for the service, I thought this sort of inferences on patients’ genomes were on a more universal scale. That way the chance of false inferences on the report goes way down, and everyone who is a part of the healthcare system can reap the benefits of getting their genes tested.”
During the question and answer portion of the discussion, a question was raised about the security of customers’ data. Gentleman responded ensuring that 23andMe takes precautions to ensure their customers’ security.
“We are as vigilant as we can be about the data our companies our customers provide us,” Gentleman said. “We have the data on a very secure machine, with two factor authentication and encryption. It is more secure than any academic organization I have been with. But I will say we are trying to take this data and help make drugs. We will share it with third parties, with drug companies, for bona fide research where there is a place where there can be novel research and substantial medical need.”
Another question that was asked brought the conversation back to how the consumer receives the reports. The audience member asked whether or not there should be a healthcare professional that acted as a gatekeeper who would decide if a patient should participate in 23andMe. Both Ginsburg and Gentleman pushed back against this idea.
“I do not think there should be a gatekeeper,” Ginsburg said. “People have a right to access this information if they want to. I think it is important that they be properly informed and there is this issue of getting information you might regret later and that people do not understand those risks. I think it is too paternalistic for us as physicians to say, ‘You cannot handle this information, we are not going to allow you to have it,’ so no, I am totally fine with this being available as it is.”
Gentleman explained that the intentions of 23andMe are not to diagnose, but to educate.
“We need to do stuff on scale, we need to do stuff with millions of people,” Gentleman said. “We can’t do that in situations in which we have to guide people through every step with a healthcare provider. We do care very much that our customers understand the things that we are doing. There have to be ways we can move some of clinical practice and data gathering safely to being done at scale. We won’t do this alone as a company we want to work with medical professionals, but we really want to move away from the notion that the only way something will be done is by one person sitting down with one doctor. We are not going to cure most complex diseases that way.”