SAN FRANCISCO (GenomeWeb) – Startup Nebula Genomics has partnered with EMD Serono, the biopharmaceutical business of Germany's Merck, for a whole-genome sequencing study of lung cancer. The project aims to test Nebula's platform, which enables individuals to obtain their own sequencing data and interact directly with genomics researchers for use of that data.
Harvard University's George Church; Dennis Grishin, a postdoc in Church's lab; as well as Kamal Obbad, previously a product manager at Google, founded Nebula in 2017. The firm has offices in both Boston and San Francisco. Obbad serves as the company's CEO, while Grishin is CSO.
The company's ultimate goal is to make personal genome sequencing free of charge and to change the model of how genomics research is performed — putting control in the hands of the individuals whose genomic data is being used in research.
In this pilot project, EMD Serono pays for the sequencing and gets access to the sequencing data, but the research participants also receive their own genomic data and retain control over any future use of it.
"The value proposition to consumers is to enable them to get sequenced and retain ownership of the data and decide how to share it and with whom to share it, and to do this in a very transparent manner," Grishin said.
The project will focus on individuals who have been diagnosed with lung cancer. Nebula, in conjunction with undisclosed sequencing partners, will provide the patients with free whole-genome sequencing of their tumor and germline and will return their genomic data to them. Participants will receive a report of their germline genome that includes non-diagnostic information such as ancestry and traits, but they will also be able to download their raw genomic data for both the germline and tumor genomes. Grishin said the hope is that these patients would be able to share their tumor genome data with their physicians to see whether it could impact treatment.
In return, EMD Serono will gain access to the genomic data for drug development research.
Nebula plans to work with the patient advocacy network Inspire to recruit patients. Grishin declined to disclose how many individuals Nebula aims to enroll.
Nebula outsources the sequencing to service providers. Instead, it has focused on developing the bioinformatics tools, software, and blockchain platform for analysis and on providing patients with a secure way to access their own data and to control who else is able to access it. The genomic data is stored in the cloud and managed by Nebula. It is encrypted by multiple keys held by multiple parties to enable better security and customer control.
The pilot project is the first test of this high-coverage whole-genome sequencing platform, Grishin said. Eventually, the company aims to forge similar partnerships with other pharmaceutical and biotech companies that would sponsor whole-genome sequencing.
Ultimately, he said, the company hopes to build up a database of genomic information to enable additional genomic studies that would include, for instance, observational studies to link genetic variation to disease as well as cohort studies for biomarker discovery in individuals with a specific disease. Grishin said that Nebula's platform would in the future allow researchers to search the database by phenotype, disease, or another criteria and contact individuals that maintained the individual's privacy, and request access to their data. The individuals could then decide whether or not to share their genomic data, and in some cases, be paid a fee for giving access. Currently, however, this capability has not been enabled, Grishin said. Part of the goal of the collaboration with EMD Serono is to figure out those details and how such a set-up would work.
Nebula also offers a direct-to-consumer low-coverage whole-genome sequencing test that provides consumers with trait and ancestry information but not clinical or diagnostic data, although customers are able to download their raw genomic data.
For this assay, New York Genome Center spinout Gencove performs the sequencing at less than 1X coverage. Despite the low coverage, Nebula provides more information than array-based DTC tests, Grishin said. Pricing is based on a subscription model, with customers initially committing to a one-year subscription at $6.99 per month. Customers can also earn credits to cover the cost through filling out online surveys and referring others. Grishin said the firm decided to do a monthly subscription because it continuously updates customers' information based on new data. The year-long subscription covers the sequencing costs, Grishin said, and if a customer does not renew the subscription after one year, then the updates will stop.
Grishin said that the low-pass whole-genome product, while similar to genotyping arrays offered by other DTC firms such as 23andMe and Ancestry, has several advantages. For instance, he said, low-pass sequencing generates significantly more data than genotyping arrays, which makes the information more accurate, particularly for individuals not of Caucasian descent. "Microarrays work well for Caucasian ancestry," Grishin said, "but if you try to impute the genome for someone who's not Caucasian, the results are less accurate."
It's unclear what the demand for such services will be, however. While the DTC genomics market has grown tremendously over the last several years, more recently, demand seems to have waned. In April, for example, Illumina reported a larger-than-expected slowdown in its array business due to lower demand in the consumer genomics market.
In the meantime, Illumina startup Helix recently restructured its genomics app marketplace, which enables customers to get their exomes sequenced and purchase various apps that interpret the data in the context of ancestry and wellness. Instead, Helix has shifted its focus to population genomics, aiming to provide solutions for health systems and payors.
Arivale, too, said in April that it was suspending its DTC business, stating that the costs were too high for its business model to work. Arivale was providing genetic, microbiome, and other lab tests to design personalized wellness coaching for individuals.
Nonetheless, Nebula is not the only company betting that the DTC genomics market will continue to grow.
Consumer genomics company Dante Labs, for instance, is expanding its capabilities, with plans to open its own sequencing lab next month. The Italian firm offers DTC sequencing services for between $649 and $999.
In addition, MyHeritage, an Israeli online genealogy company, recently expanded into the genomics-driven health space.
Grishin said that he didn't think the hurdles that other consumer companies faced stemmed from a lack of customer interest or demand. For instance, he said, companies like Helix and Arivale faced challenges because of the cost of sequencing, which Nebula aims to avoid through partnering with pharmaceutical companies that would sponsor the sequencing. In addition, "sooner or later everyone will switch [from genotyping] to sequencing," Grishin said, so even if there is not currently an established market for DTC whole-genome sequencing, he thinks there eventually will be one.
"Coupled with the unique properties of our platform that lets individuals have control over their data and participate in research, we think we can compete with the more established companies," he said.