Digital DNA: Consumer Genetic Testing – An Interview with Kevin Quinn, Nebula Genomics
The Digital DNA series explores the role of large-scale genetic testing in science, industry and society. We aim to understand both the benefits and risks of this emerging technology and see what the future may hold.
As part of the Digital DNA series we talked to Kevin Quinn, Chief Product Officer at Nebula Genomics. He describes how Nebula Genomics is aiming to bring customers and researchers together on a secure platform to advance genomics research.
FLG: Can you Introduce Nebula Genomics?
KQ: Nebula genomics is a privacy focused personal genomics company that was founded a by Harvard Professor George Church, along with two co-founders Kamal Obbad and Dennis Grishin. The mission of Nebula is to connect patients and consumers with researchers and incentivize fair data sharing by ensuring equitable compensation, transparency, and security. One of the ways we are doing that is by providing access to genome sequencing to customers at a reasonable price. We allow customers to own and maintain their own data without being having to be concerned about security and privacy.
FLG: How do Customers and Researchers Benefit from Genetic Testing?
KQ: Historically, people have only used genetic testing to gain information on traits, fun facts and ancestry. However, personalised medicine is right at the forefront here. Historically there has been considerable bias in how doctors assign treatments. For example, a doctor may have had a particular treatment work well for a previous patient, and therefore inform future decisions for other patients who may respond entirely differently. The premise of genome sequencing is to get more information to make more informed decisions, so treatments can be tailored to a patient’s genomic profile. Genomic data will hopefully become one more tool in a doctor’s arsenal.
One of the problems with enabling genomics research in the past is small sample sizes. There’s lots of genomics databanks around the world which contain small and siloed subsets of data, but to be more successful you need larger data sets and larger sample sizes. One of the benefits of the Nebula platform is connecting people to research and enabling that to happen faster.
If users participate in research on the Nebula platform they can redeem benefits such as free clinical-grade whole sequencing.
FLG: Do Nebula Genomics do Anything to Help Customers Understand their Genetic Data?
KQ: We offer interpretation, ancestry reports, oral microbiome sequencing reports, as well as a curated repository of genomic research, and how that research might impact you directly. Nebula results are on average >99% accurate, however, like all genomic sequencing, results are not 100% accurate and it is important that customers talk to a genetic counsellor or their doctor to help understand the results.
FLG: How do Customers get Involved with Research through the Nebula Platform?
KQ: Once you sign up to the platform it’s optional for you to answer survey questions about yourself, your lifestyle and any diseases you or your family members may have. You then can then opt into to have researchers reach out to you about taking part in studies. For example, if I indicated that I have a certain condition on my survey, and my privacy setting give permission, then researchers could anonymously approach me and say ‘you might be a good contender for our study, are you interested in taking part?’
Individuals will also be able to go onto the platform and browse the open studies. If you want to be a little more conservative with your data you can just go and look through what’s available and see if anything might apply to you, or if there’s any research that you’re passionate about. You can get involved that way too and either option will be made available.
The process should always be completely transparent. If customers get sequenced and want to contribute to research studies, they should know what they’re contributing to and have the ability to opt in or opt out of specific incidences of use. They can then feel like they are a part of the research process, and get compensated accordingly.
FLG: How does Blockchain Enable Security of Customers Genetic Data?
KQ: Blockchain is an important part of our company because it allows us to enable a transparency layer for how people would like their data to be shared (if at all). Blockchain provides a public ledger which allows the user to verify that the security settings and privacy settings that users have associated with their data are being honoured.
This prevents customers from saying ‘I made a mistake getting sequenced, I didn’t know where my data went. Or is my data being sold and used without my knowledge?’ Blockchain is making sure that the infrastructure is there for people to feel comfortable, safe and secure on the platform.
FLG: So only Customers Can Access their Data Unless They Give Permission to Anyone Else?
KQ: That’s exactly right yes. Unless the customer specifically says they’re ok with their data being used for research or by a research entity then their data can’t be used.
FLG: Does Sequencing Cost Create a Selection Bias for Research Studies?
KQ: There is certainly bias in the people historically who have been genotyped or sequenced. If it costs a substantial amount of money it’s going to bias towards people who have that money to spend, so it’s definitely something that we are conscious of. It’s one of the reasons why Nebula’s mission to is remove this barrier for users, and sponsor as much free sequencing for people around the world to benefit from genomic research.
We didn’t want price to be the only reason why someone that would love to contribute research. Therefore, we have programmes that give free clinical sequencing to people with rare diseases. We also have a programme that we are still currently running that helps give people access to free sequencing for answering research survey questions and participating in research.
We are trying very hard to combat that bias but it’s still an open problem in the space.
FLG: Where do You and the Company See Genetic Testing Going Next?
KQ: We are excited about the price of clinical sequencing going down, which will enable more and more segments of the population to access the benefits, as well as generate more data for research. This price reduction trend has been happening for the last two decades, in part due to the research and advocacy from our co-founder Professor George Church. The first genome was sequenced for about three billion dollars, whilst now it costs less than $1000 per genome. As the price goes down clinical sequencing will become more common, more understood, and more appreciated.
When people understand the value of clinical sequencing the large problem of data silos goes away. You have access to much more data and more people are engaged and participating in the research. Which is why at Nebula we are excited about bringing these people together on a platform they can trust.
FLG: Anything Else to Add?
KQ: One of the important factors for Nebula when it was first created was to find the right balance between enabling research whilst protecting privacy. That’s obviously a very turbulent relationship because at times those are at odds. We are trying to leverage the most up to date technology and incorporate blockchain in a way that takes away some of those concerns. This gives people a chance to both learn about themselves and help others without having to feel cognitive dissonance. If we can solve that problem and bridge the gap, there are a lot of incredible opportunities to make medical breakthroughs in the community.
Our Digital DNA series will continue with more interviews and articles exploring the benefits, risks and potential of genetic testing. If you or your company would like to contribute to the Digital DNA series, please email firstname.lastname@example.org
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