In the last few years consumer genomics has grown in both its offerings and legitimacy. The industry that was once best known for telling clients if they were Italian or Hungarian is now securing its foothold within the healthcare space.
The highest profile among these has been the controversial case of the Golden State Killer, in which investigators linked a DNA sample found at a crime scene to a distant relative of suspect Joseph James DeAngelo Jr using several consumer genomics services.
News of the arrest and the means by which DeAngelo was identified sparked subsequent debates concerning consumers’ privacy when volunteering genetic samples and law enforcement’s access to these large genetic databases.
Are you creeping on my DNA?
When it comes to privacy, stakes are high for the relatively new field of consumer genomics.
“I think [privacy and data protection] is a hugely important topic. The story about Facebook and Cambridge Analytic broke a few months ago, but I feel like every day there is more breaking news about it and it keeps getting worse,” Elaine Cheung, vice president of marketing and policy at Mindstrong Health and former head of business development at Genomics Health, said during a panel at BIO 2018.
“Then related to the topic is the Golden State Killer and the public genealogy base used to track this man. Remarkable story, but it brings all sorts of different ethics questions. I think for these burgeoning spaces … You only get one shot at earning the public’s and patients’ trust and maintaining trusts. That is essential. Any breach of that impacts the whole space. So I think we have a collective responsibility to treat this very seriously.”
Consumer genomics tests have had their critics. In November, Senator Chuck Schumer called on the Federal Trade Commission to investigate and ensure that privacy policies in consumer genomic products are clear, transparent, and fair to consumers. Schumer cautioned that these test kits put consumer privacy at risk because DNA firms could potentially sell personal and genetic information.
But it isn't just Schumer who is raising the alarm about where their genetic data goes and who owns it.
“My biggest concern is privacy and security,” Scripps Translational Science Institute founder and Director Dr Eric Topol said.
“It is their data and it shouldn’t be on massive servers that can be hacked. [Practices need to change] so that each person can control their data, and what portions of the data they want, and what portion of data they want to share. There is no place now for people to have all their data.”
It is a common practice in the space for companies to sell aggregated data to third parties. Regardless, industry experts stress that is it is essential for consumers to understand their rights and expectations.
“I think the field is starting to coalesce around 'What does informed consent mean?' What does accountability mean?'" Cheung said. "I think that we all need to be thinking very actively about this topic as we develop our businesses and are privileged to access some of the information that consumers and patients are [providing].”
The concerns have prompted discussions of best practice in the industry. Akwasi Asabere, the head of business development and partnerships at Helix, one of the major consumer genomics companies in the US, said he has worked with other consumer genomic groups to look at potential guidelines and industry standards.
“There is no individual company setting the standards; it is [a collective] dialog saying we are the leaders in the space and we need to take a direction,” Asabere said during a panel discussion at BIO 2018.
For example, one of the concerns that has frequently come up in debate is the fear that an insurance companies or payer could potentially access a user’s genomic information to increase premiums if someone is at high risk for certain diseases. However, there is a law on the books in the US, called the Genetic Information Nondiscrimination Act, that specifically protects people from genetic discrimination in health insurance and employment.
We have a resource for that
As the industry moves into the mainstream, many genomics companies are teaming up with third parties to offers additional services and resources. As a result, big names in healthcare and tech like the Mayo Clinic and Apple are getting involved.
Some of these partnerships can lead to additional services or expertise or instance, Helix customers can choose which products they would like to buy and then, with the customers permission, have their data is sent to a third parties able to provide additional information.
“Consumers don’t have genetic questions. They typically just have questions they hope genetics can help them answer,” James Lu, cofounder and vice president of applied genomics at Helix, said.
“What we are focused on with ourselves and our partners are focused on, is how do we best answer the questions that consumers care about? In the ancestry space we think that key questions are 'Where am I from and who am I?' In the health space, the questions are going to be 'How do I prevent disease?' or 'How do I be healthier and how do I use this information to impact my life?'
“[W]e want to enable third parties that are specialists in their area to offer interpretations in context. So, when we talk about the story of where you’re from we have the National Geographic, [and] we think one of the best companies in the world to talk about your health is Mayo Clinic.”
One key resource area that has been widely discussed is giving users access to genetic counsellors and medical professionals, a task that can be difficult with the shortage of qualified experts. Even with an expert's knowledge, though, revealing the results to genetic tests can be panic inducing.
"When I had to self test the products myself, which was a FH test [for cholesterol], I got the email that said your results are ready," Asabere recalled.
"Then there was a pause, and I said ‘what if it’s possible?’ There was a part of my brain that said, 'It isn’t possible because I know this, because I haven’t demonstrated any symptoms.' But what if?’”
Asabre said that healthcare partners Helix works with now must provide genetic counselling. Still, Lu stressed that having the resources available doesn't mean that customers will always use them.
Other companies, like 23andme and Geisinger, are handling the need for genetic counsellors in innovative ways.
“23andme has a great way of providing data visualisation for the uninitiated, for people with no grounding in genetics or genomics, so that is step one,” Topol said.
“Secondly, Geisinger has a chatbot to go over people’s exome results and that can be a great way to start the process to limit the need. Third, is that telemedicine has been shown to be highly effective for genetic counselling. You don't need to have an in-person visit most often, so that can improve efficiency. There are lots of ways to work around the big problem we have, which is that we are moving more and more to genetics in medicine and health and we have totally insufficient numbers of genetic counsellors or professionals that can provide the appropriate advice in counsel. We need to come up with other solutions.”
FDA and regulations
Consumer genomics companies have lately made serious strides with the FDA. Last week, the FDA announced a new ruling that exempted individual genetic risk tests from 510(k) premarket approval. Now companies offering the tests have to go through a one-time premarket review of its testing apparatus.
This has been months in the making, as the FDA had originally announced that it was working on a new pathway for the technology in November 2017.
"The FDA is taking steps to implement a novel regulatory approach for the regulation of [genetics home reference (GHR)] tests that applies proper oversight in a flexible, new way," FDA Commissioner Scott Gottlieb said in a statement in November.
"It builds on the important lessons we learned from the FDA’s authorisation of the first GHR and carrier screening tests sold directly to consumers."
In the new public rule, the FDA noted that it received one comment critical of the suggestion, from an unnamed industry group. The comment expressed a worry that, among other things, the new paradigm would allow companies to not only release comparatively unvetted tests to the public, but to falsely claim those tests are FDA-approved.
Outside of this, the response from industry has been largely positive.
“Our general impression is that we are very encouraged by what the FDA has said,” Lu said.
“What they have demonstrated is users can get access to genetic health risk information in a safe, effective manner. It can be accurate and people can understand what they are getting and not getting. We think that is a huge step in terms of determining the type of information people should be allowed to receive.”
Under the new ruling genetic risk assessment tests will still need to meet the same standards as before, but they just won’t have to prove it before going to market. Any companies making false claims will continue to be subjected to FDA sanctions. Additionally, the exemption won’t apply in the case of sufficiently high-risk genetic tests.
But the FDA had a somewhat tremulous relationship with the consumer genomics space in the years prior.
In November 2013, the FDA ordered 23andme to immediately stop selling its testing service until the offering received a de novo clearance. But the consumer genomics giant worked with the agency and, in April 2017, received the nod to sell its direct-to-consumer genetic test kits that provide information about a person’s risk for certain diseases like Alzheimer’s or Parkinson’s.
“This is an important moment for people who want to know their genetic health risks and be more proactive about their health,” Anne Wojcicki, 23andMe CEO and cofounder, said in a statement at the time.
“The FDA has embraced innovation and has empowered individuals by authorising direct access to this information. It is a significant step forward for 23andMe and for the adoption of personal genetics.”
More recently, Cheung remained encouraged by the FDA’s willingness to listen to players in the space and change accordingly.
“We are in a unique period of time with the degree of receptiveness that the FDA is having around digital health and I think they are trying really hard in the whole laboratory test space,” Cheung said.
“I admire what the FDA is trying to do and if they don't evolve in the space [they] will be left behind, and so they are trying to come up with the right frameworks in how to regulate in the genomics space.”
Originally published on Mobihealthnews, a sister publication of HITNA.
To share tips, news or announcements, contact the HITNA editor on firstname.lastname@example.org