6. In business world, money poured into bioinformatics cloud companies, even though FDA ruled against personal genomics
In Oct 2013, a tech startup ‘providing cloud services to pharmas like Pfizer’, went public and raised $217 million. The current valuation of the company is nearly $4 billion. That is not a small sum of money, given that the entire budget of National Science Foundation of USA is only $7.4 billion.
Everywhere we see evidence of money pouring into all kinds of bioinformatics companies. For example, from today’s news,
Tute Genomics announced that it has raised $1.5 million in Seed Round funding to further develop its advanced genome analysis software, allowing researchers to rapidly discover novel disease genes & identify predictive biomarkers. Investors in this round include Wilmington Pharmatech, Salt Lake Life Sciences Angels, Peak Ventures, Park City Angel Network, and a number of individual angel investors. Tute Genomics participated in the BoomStartup accelerator program in Utah this year, and subsequently raised the most funds of any company in BoomStartup’s history. Additionally, Tute raised approximately $300K from AngelList, via their new Syndicate mechanism.
All these suggests that maybe we are happily converging on to world of personalized medicine and personal genomics forecast by Francis Collins since around 1999, or are we?
A HYPOTHETICAL CASE IN 2010
General visions of gene-based medicine in the future are useful, but many health care providers are probably still puzzled by how it will affect the daily practice of medicine in a primary care setting. A hypothetical clinical encounter in 2010 is described here.
John, a 23-year-old college graduate, is referred to his physician because a serum cholesterol level of 255 mg per deciliter was detected in the course of a medical examination required for employment. He is in good health but has smoked one pack of cigarettes per day for six years. Aided by an interactive computer program that takes Johns family history, his physician notes that there is a strong paternal history of myocardial infarction and that Johns father died at the age of 48 years.
To obtain more precise information about his risks of contracting coronary artery disease and other illnesses in the future, John agrees to consider a battery of genetic tests that are available in 2010. After working through an interactive computer program that explains the benefits and risks of such tests, John agrees (and signs informed consent) to undergo 15 genetic tests that provide risk information for illnesses for which preventive strategies are available. He decides against an additional 10 tests involving disorders for which no clinically validated preventive interventions are yet available.
Johns subsequent counseling session with the physician and a genetic nurse specialist focuses on the conditions for which his risk differs substantially (by a factor of more than two) from that of the general population. Like most patients, John is interested in both his relative risk and his absolute risk.
John is pleased to learn that genetic testing does not always give bad news his risks of contracting prostate cancer and Alzheimers disease are reduced, because he carries low-risk variants of the several genes known in 2010 to contribute to these illnesses. But John is sobered by the evidence of his increased risks of contracting coronary artery disease, colon cancer, and lung cancer. Confronted with the reality of his own genetic data, he arrives at that crucial teachable moment when a lifelong change in health-related behavior, focused on reducing specific risks, is possible. And there is much to offer. By 2010, the field of pharmacogenomics has blossomed, and a prophylactic drug regimen based on the knowledge of Johns personal genetic data can be precisely prescribed to reduce his cholesterol level and the risk of coronary artery disease to normal levels. His risk of colon cancer can be addressed by beginning a program of annual colonoscopy at the age of 45, which in his situation is a very cost-effective way to avoid colon cancer. His substantial risk of contracting lung cancer provides the key motivation for him to join a support group of persons at genetically high risk for serious complications of smoking, and he successfully kicks the habit.
In a surprise December 2013 reversal, FDA banned personal genomics company 23 and Me to stop doing exactly what Francis Collins forecast they would do by this time. From the CNN report,
The Food and Drug Administration has ordered genetic testing firm 23andMe to stop sales of its home-testing kits, saying the Google-backed company has failed to prove the validity of its product.
23andMe offers $99 saliva-testing kits that customers use at home and then send to the company for reports on their heritage, their receptiveness to medications and their genetic risk for dozens of health conditions.
“Strike back before cancer has a chance to strike,” the California-based company says on its website.
But in a letter dated Friday and posted on its website, the FDA said that despite extensive correspondence with 23andMe, regulators “still do not have any assurance that the firm has analytically or clinically validated the [personal genome service] for its intended uses.”
Some would argue that the 23 and Me case is an exception to the trend of convergence toward personalized medicine, but the last paragraph of the above report suggests it is not. Can a personal genomics company use the results from high-visibility publications from Genome Wide Association Studies to warn people of disease risk? Is the FDA suggesting that the extensive amount of discoveries reported from Genome Wide Association Studies (#GWAS) are mostly garbage for clinical use? FDA’s ban of 23 and Me puts a big question mark on the entire paradigm promoted by Francis Collins. Possibly it qualifies as a major trend change and we will learn more in the coming years.
Coming up next -