The Language of Life by Francis Collins is a fitting read for the current discussions around the challenges between 23andMe and the FDA. He documents his experience with genomic testing, and describes how after sending samples to several different labs, the results and the interpretations he received in return differed in their diagnosed disease risk levels. In the short time of almost 60 years, our understanding of the human design and function has moved at warp speed, but we still have much to learn.
In the 1950's, before the DNA structure was "discovered," the scientific thought of the day was that the DNA was made up of proteins. Once new discoveries in genomics were made, they spurred great hope for effective means to diagnose, treat and cure diseases, and ultimately the opportunity for personalized medicine. The Human Genome Project brought to the forefront legitimate ethical questions and fears, such as, "If we know how to control specific traits, such as eye color, can we be make designer babies?" Despite the mapping of over 20,000 genes, we still do not know where the key to our eye color resides in the DNA, and the fear of designer babies has largely been mollified. But ethical questions still remain, and the opportunity for personalized medicine (e.g., targeted cancer treatment) is beginning to be realized, so the need for accurate information has never been more critical.
Some interpret the imperfections of the Human Genome Project as a failing. Others see in the delivery of a genetic blueprint of the human being the potential for personalized healthcare, and recognize the greater need to unravel the complex designs and their processes. Any blueprint, from buildings to software code, requires skilled engineers to translate the blueprint into the final structure. The ingenuity of that translation, which includes the complexity of the processes and the available resources, is what dictates the quality and completeness of the product. This applies as well to the human DNA blueprint and the relationship to understanding our personalized health.
The combinations of DNA, mRNA-processing enzymes, and synthesis by the ribosome into proteins, working with the supporting resources of vitamin B's (metabolically essential in the production of blood cells in bone marrow, nerve sheaths and proteins) are fundamental to understanding our health risks. But looking at these alone does not provide enough information to thoroughly understand health implications. We might have adequate Vitamin B's in our diet, but the body's ability to use those vitamin B's is calculated not only based on how much vitamins we ingest, but it is also dependent on processes our gut flora use to synthesize them.
So genomic and biological science continues to run at warp speed, adopting new approaches such as team science, to better understand the complexities of the design of the human being and to improve our understanding of health and curative therapies.
As 23andMe takes leaping steps to bring personalized medicine directly to patients, they are collecting a large pool of data, which in turn could become valuable to understanding patient's healthcare. Unfortunately, they have taken great risks by making some very bold claims. The FDA, in their role of protecting public health, is requesting data and evidence to support these claims. With the FDA's Benefit & Risk guidance (as I mentioned in my previous blog Patient-centric Healthcare Decisions - FDA is making them!), there is the opportunity to add the patient's benefit into the conversation. It remains to be seen if 23andMe can support their claims to FDA; and if they can support those claims, whether they will eventually seek to have their tests be considered to be of Value and to be "Reasonable and Necessary" for reimbursement coverage (Being "innovative" can make your reimbursement case harder).
This controversy sends a critical message to device companies, as well as to the evolving field of personalized medical service providers: Claims made for devices and services must be accurate and provide the appropriate data and evidence. ClearRoadmapSM is designed to help innovators understand which US Federal and state regulatory processes are relevant and what is required, based on the intent to use.
-- Vizma Carver, Founder and CEO, Carver Global Health Group