Even after declaring bankruptcy, 23andMe sat on a treasure trove of personal genetic data from millions of people when it announced that Regeneron would be acquiring it earlier this year. But ultimately, that coveted data was the reason the deal fell through. Twenty-seven states and the District of Columbia sued to block the sale of customers' genetic information without consent.
Allowing drugmakers to tap into 23andMe’s huge genetic database had long been central to the once-startup’s business. But another personal genetics company, Sequencing.com, operates differently.
“When [the] pharmaceutical company is your customer, then all you're really trying to do with the consumer is get their DNA to build up a database,” said Brandon Colby, founder and CEO of Sequencing.com.
Colby, a physician by training, aimed for a different approach to direct-to-consumer personal genetics when he founded Sequencing.com in 2013, which claims to be the only HIPAA-compliant personal genetic analysis company. It offers consumers broader insights into their DNA, too, he said.
“We are a very different company than what people usually think about in terms of home-based DNA testing,” he said. “We look at a person's whole genome, so we look at every single gene within their genome.”
Whole genome sequencing analyzes all of a patient’s DNA, compared to tests from companies like 23andMe and Ancestry.com, which analyze parts of it.
“You just get your genome sequenced once, and then it's all about the analysis of that information, about the reporting on that information, about digging into that data throughout the rest of your life, as opposed to needing more genetic tests,” Colby said.
Although this type of work is consumer-focused, DNA tests remain poised to impact the pharma and broader research worlds in various ways.
For instance, the nonprofits Native BioData Consortium and Spectrum Biobank are collecting data from non-European populations that have been historically underrepresented in genetic data collection, which could help diversify clinical research.
Pharma companies have also seen the potential in tapping genetic databases, from 23andMe’s 2018 drug development partnership with GSK to Regeneron’s recent interest in purchasing the company. Sequencing.com generally targets people looking for the cause of a mysterious illness and those interested in prevention and health monitoring.
The same data from its tests can also be used to predict how people react to certain medications. For example, Sequencing.com laims it tests 3,839 genetic variants of the RYR1 gene to detect preventable reactions to anesthesia.
Colby believes the FDA will soon require genetic testing as part of most clinical trials.
“There are some medications the FDA has already put warnings on [saying] that a person needs a genetic test before they're prescribed,” he said. “Genetic testing is powerful at predicting if a person will have a severe adverse reaction or even cause death in a subset of people.”
Although working with pharma isn’t Sequencing.com’s primary objective, Colby believes there could be value in partnering with clinical researchers, offering customers specific opportunities on a study-by-study basis, as well as compensation for participation.
“They can choose to opt in and the customer would receive some benefit from that,” he said. “The customer is never automatically opted in.”
Colby said the company plans to announce such a deal with a research partner in January.
But as it expands the scope, Colby also recognizes there are certain risks associated with its capabilities.
Promise and controversy
For all their power and promise, human genetics companies have been plagued by controversies beyond patient data ownership and privacy. Among them is genetics-based embryo selection from companies like Herasight and Nucleus Genomics, which claim to offer prospective parents the ability to choose their baby’s traits ahead of IVF. Nucleus’s tag line, for instance, is “have your best baby.”
Even aside from a potentially slippery slope toward eugenics that genetics-based embryo selection evokes, many of those companies’ claims aren’t scientifically based, Colby said. Additionally, researchers writing in the journal Nature called the rise of these companies “alarming,” and said they’re “marketing polygenic risk scores as part of IVF well ahead of a full understanding of the potential benefits — or dangers.” They point to diseases like diabetes, which isn’t caused by mutations in a single gene, but likely thousands.
Meanwhile, 23andMe remains mired in controversy, with its bankruptcy raising ethical and legal questions about who owns patients’ genetic data. After the Regeneron sale fell through, founder Anne Wojcick’s nonprofit TTAM Research Institute won the bid to acquire the company’s assets for $305 million, with promises to provide “customers with choice and transparency with their data, including the option to change their decision on whether to participate in research.”
23andMe also said it’s continuing to operate its personalized DNA testing and research services as part of TTAM.
