Whole Genome Sequencing & Analysis – A dream come true for Preventive Medicine Practitioners and their Patients.
Yusuf M. Saleeby, MD
Author, Director of Carolina Holistic Medicine & co-founder of Zimetry
At a cost of nearly $2.7-billion and a decade in the making, the Human Genome project came to fruition in 2003. This has to be the centuries biggest breakthrough in biomedical technology with huge implications for the health and wellness of humanity. The fact that it took so long and so much funding to essentially map out a single human genome gave pause to scientist and clinicians as to how clinically applicable this new technology would be. Fast forward twelve years and with the advent of better DNA amplification processes and DNA sequencing because of advances in bio-engineering we can now sequence a person’s entire genome in a matter of 4 weeks. The advances made in this field of science has outpaced Moore’s Law and shattered records everywhere. The cost today (2016) is about $3000. A tiny fraction of the cost just a decade ago. It is estimated that in the next 10-years people will be able to sequence their entire genome for a few hundred dollars and in a matter of days. Today the leading sequencers come from a company called Illumina® which has a platform called the HiSeq X Ten (>30x) 3000. This machine allows for a very rapid sequencing of DNA and re-configuring from A to Z. There are other biotech companies in hot pursuit with sequencers even more advanced, accurate and rapid.
The sequencing is only half the process. The other important part of the equation is the interpretation or analysis of the data. The data is so vast and without assigning causes of disease to mutations, missing segments of DNA, and phenotypes it would be impossible to use in a clinical application. The data-bank of causal relationships to what we find in our DNA sequencing grows by the day. Analytic tools help us take the immense data and construct a report to help clinicians direct their patients away from disease causing states. With Whole Genome Sequencing (WGS) and analysis, we can predict what a person is likely to develop as a chronic illness in life. Early interventions could prevent such diseases from ever getting a foot hold. Other aspects of this type of application would be to determine a very young age if an athlete is cut out for long distance aerobic exercise dominance (as in a marathon runner) or is better suited for bodybuilding and strength exercise. It can even determine your predilection for liking Brussels Sprouts or broccoli. We are still in the infancy of this blossoming specialty in medicine and science, but time will add to the world genomic data-bank and we will discover more about each individuals likes, dislikes and relative risks for disease. We can determine early in a person’s career what field of study is best suited to their personality, how generous or altruistic they are (yes, there is a gene for that). And if they are the ones at higher risk to bully or be bullied.
Some question as to why do this. I have come across patients that tell me “I just don’t want to know what diseases I may get.” This is especially true with regard to Alzheimer’s Disease. My retort is that if you know you have a higher odds of succumbing to such a disease and there are ways to lower your risk or even prevent such an outcome, would you not want to know in advance of such a horrible disorder taking hold in your life. When 80% of the healthcare dollar is now spent in a person’s twilight years and disorders such as cardiovascular, cancer and dementia absorb much of the dollars spent, would it not be wonderful to have a means of preventing this in the first place. Think of the personal suffering that can be abated. Think of the economic impact of preventing even half of the cases of Alzheimer’s disease and its effects on the patient and their families.
In my field of medicine, this razor cutting edge technology is now the gold standard in preventive and predictive medicine. I am optimistic that it will eventually find its way into mainstream conventional medicine (from the hands of the innovators and early adapters to the masses) and shift the disease chasing system to that of pure prevention at a cost savings to the system and a gain in quality of life for all.
Yusuf (JP) Saleeby, MD is director of Carolina Holistic Medicine; Co-founder and Chief Medical Officer for Zimetry.com. He is a medical writer and lectures on the topics of Functional Medicine and Predictive Testing. He can be reached for comment at firstname.lastname@example.org or email@example.com