It’s something of the holy grail—run whole genome sequencing on a sample of a person’s blood and identify their risk for disease, all quickly and affordably. Oxford, England’s Genomics, founded in 2014 out of Oxford University by Sir Peter Donnelly, may be getting close.
It’s something of the holy grail—run whole genome sequencing on a sample of a person’s blood and identify their risk for disease, all quickly and affordably. Oxford, England’s Genomics, founded in 2014 out of Oxford University by Sir Peter Donnelly, may be getting close.
The company is launching a trial in a new NHS pilot project with 1,000 volunteers, focusing on heart disease. It also plans to begin a similar trial in Stanford Hospitals in California with about 5,000 patients between the ages of 40 and 60 starting this summer.
If effective, it would be able to help people in their 40s or 50s determine the likelihood of their developing heart disease. This would allow physicians to help patients make the appropriate lifestyle changes and begin taking necessary drugs, such as statins.
The volunteers in the studies will donate a blood sample and the Genomics technology platform leverages an algorithm to analyze their genetic patterns. Some of those patterns have been associated with an increased risk of heart attack later in life, even if they currently have no symptoms. They will then be given a personal polygenic risk score (PRS), which can be used alongside a clinical risk prediction tool that the NHS is already using, that takes into consideration things like BMI and cholesterol levels.
“This is yet another example of the NHS leading the world with this trial,” Donnelly told the Evening Standard. “This is cutting edge [tech]…. It is about getting it into healthcare now and increasing focus on prevention.”
Although these studies are focusing on heart disease, the company’s technology is also focused on a range of genetic patterns associated with other diseases, such as cancer and multiple sclerosis. Donnelly even thinks it’s possible that eventually it will be used to evaluate people in their 20s and 30s for diseases that are more commonly developed earlier, such as auto-immune diseases.
Of course, some people may not want to know.
“I understand why someone would be a bit worried,” Donnelly said. “It is important to say that these are just risk factors. If you have a high PRS score for heart disease, you are around four to five times more likely to get it. It’s not that genetics determine the outcome, it is a risk factor. In all cases, there are things you can do [to help prevent disease]. You can be more vigilant, you can have medical interventions. That is important to understand.”
On March 1, Genomics completed a $30 million funding round, with investments from Foresite Capital and F-Prime Capital, joined by existing backers Oxford Sciences Innovation and Lansdowne Partners. The company plans to use the monies to expand its work building its health platform.
Jim Tananbaum, chief executive officer of Foresite Capital, stated, “Genomics plc plays a key role in transforming how we understand and deliver precision medicine at scale. We are excited to support this talented management team as the company embarks on its next growth phase.”
Stephen Knight, president and managing partner of F-Prime Capital, noted, “The convergence of data sciences with life sciences is one of the most exciting areas in healthcare today and we see Genomics plc as a clear leader in that field. The company’s proprietary research platform powered by a large dataset of genotypic and phenotypic information, combined with the leading statistical genomics team in the world, delivers unique insights in the discovery of new therapeutic targets as well as key advancements in preventative healthcare.”
