While the promise of genomic information is huge, it’s only applied in actual medical practice today in fairly limited circumstances, like high-risk pregnancies and tumor biopsies. Take your 23andMe results into your doctor’s office and they’re as likely as not to be met with a shrug.
A startup in Redwood City, Calif., wants to change that. On Tuesday, BaseHealth is launching Genophen, a set of online tools that combine DNA data with lifestyle factors, family histories and medical conditions to help doctors and patients identify personalized plans for lowering the risks of developing chronic diseases.
The company is also announcing that it raised $6.3 million from undisclosed angel investors.
The product is not for everyone. They’ve designed it for doctors who specialize in any of 40 specific preventable conditions — like diabetes, heart disease, obesity and certain types of cancers — and the patients at high risk for developing them. This can include people with pre-diabetes, hypertension or other early indications of developing problems.
BaseHealth is the latest entrant into a space that some call digital therapeutics, the concept that information technology tools can help people make concrete lifestyle changes to avoid the onset of costly and debilitating diseases. Earlier this month, Omada Health closed a $23 million funding round led by Andreessen Horowitz, after creating a 16-week online program designed to help those with pre-diabetes.
Chronic diseases are responsible for seven out of 10 deaths each year in the United States, and account for more than 75 percent of the nation’s health care costs, according to the Centers for Disease Control and Prevention.
BaseHealth also addresses a key criticism of direct-to-consumer genetic testing companies like 23andMe: that the information is best presented by a medical professional who can help filter and interpret it. (Not everyone agrees, of course.)
The company’s planned route into the marketplace is through doctors themselves, whom they expect will effectively prescribe the tool to patients. The process starts by asking them to take a DNA test, which can be a basic SNPs test, exome sequencing or a full genomic workup — increasingly complete tests for increasingly higher costs.
That information, plus family histories, vital signs, bad habits and more are loaded into Genophen. Patients can also add activity tracking with a Fitbit device.
In turn, the software computes the possibility of developing certain diseases. It also identifies the level of risk that is fixed through genetics or family history, and the portion that can be addressed through changes in diet and lifestyle.
“Physicians will see the results and tell you, these are the risks, these are the risk factors and these are the things you can do to control and manage risk,” said Hossein Fakhrai-Rad, chief executive of BaseHealth, who studied genetic markers in type II diabetes for his doctoral work at the Karolinska Institute in Sweden.
Patients can then use the tools themselves, including sliders that allow them to explore “what if” scenarios, providing a better sense of how a better diet or more exercise could alter their outcome.
How well this all works in real life remains to be seen. There are what is known as Mendelian disorders, where a single gene definitively leads to certain conditions such as Huntington’s or cystic fibrosis. But most diseases are the result of some combination of genomic, lifestyle and environmental factors that scientists often only loosely understand. The exact balance of influences and level of risks are frequently in dispute.
Fakhrai-Rad said they’ve based the risks assessments within Genophen on the established research in each of their disease areas. They’ve effectively conducted meta-analyses of the scientific literature, assigning weights based on sample sizes and other factors, and come up with their own consensus risk levels.
BaseHealth has been conducting pilot programs with 50 medical practices and 200 patients, a process that has included “some blind testing with physicians,” he said. The company hasn’t, however, conducted clinical trails or published peer-reviewed papers on either its “proprietary scoring system” or impact on patients.
Like many emerging companies in the digital health space, they’ve identified a clear problem in health care and articulated an alternative that sounds reasonable.
But the real test can only come over time, as it becomes clear whether or not patients using Genophen actually end up living longer and healthier lives.