Getting to a Lifetime Genetic Textbook for Treating Disease

The following is a guest article by Haim Neerman, CEO at Variantyx.

As a society, how much should be invested in creating a “transformative textbook of medicine, with insights that will give health care providers immense new power to treat, prevent and cure disease”?

In this case, it is a trick question. The investment has already been made. Thirteen years and billions of dollars later the apt description of the return on investment you just read was provided in 2001 by Francis Collins, then director of the National Human Genome Research Institute. The Human Genome Project has also been described it as “one of the great feats of exploration in history” which “gave us the ability, for the first time, to read nature’s complete genetic blueprint.”

So now that we have the textbook on the approximately 20,500 genes that make up the human “genome,” what do we do with it?  If you take a purely holistic view, especially since it is now more feasible than ever to sequence the whole genome of individuals, there would be immense value in sequencing every individual from birth and use the information gained alongside the textbook provided by the Human Genome Project. This would further advance the power to treat, prevent and cure disease and to establish genomics as a primary fundamental in precision medicine.

The long-term vision would be that every new born baby be sequenced and the data should accompany an individual patient for life, and clinicians could query the data every time a patient makes a visit for a medical procedure, prescription, surgery, anything you can think of. The sequencing data can always be revisited, analyzed and used to support important clinical medical decisions in the future. We have the tools and technologies to enable the long-term vision but, at this time, genetic testing is not really part of the “playbook” for hospitals or large health care systems.

A primary challenge at this point, at least from a technological standpoint, is that genomic sequencing requires a lot of data, about 80 gigabytes of data for an individual. Multiply that by tens of thousands of people, it is easy to envision difficulties in storing, managing, and processing. This is as big as “big data” gets. Healthcare organizations are not yet equipped for this type of data immersion. The options are to work in the cloud or in collaboration with an entity that has the infrastructure, such as genomic testing organizations that can provide the data infrastructure and computer power to enable the adoption of the holistic view. Early adopters on the clinician side are already taking advantage of platforms that provide analysis for sequencing data.

The bottom line is whole genomic sequencing is being used, but not to the extent that it should. For now, it still comes down to the individual clinician. At the hospital department level, if it is genetics or neurology, there are some that have policies that support whole genome testing. But it is not being seen healthcare system-wide as of yet. Discussions with large healthcare organizations about taking a stronger holistic view in support of genome sequencing for life are still at an exceedingly early stage.

But the conversations should continue because there are plenty of medical situations in the life cycle that utilize advanced genetic testing. A newlywed couple will sometimes choose a carrier screen, testing to see if they have any hereditary mutations that could affect the next generation. For pregnancy, there is non-invasive and invasive prenatal testing to see if the baby is healthy. After the child is born, there is genetic testing for many conditions. As we age, there may be a need to take some prescription medicine. There are pharmacogenomic tests to see if the drug that you are taking is good or bad for you. If somebody gets cancer, the tumor can be sequenced in order to understand the tumor profile and determine the best treatment. In later age, people develop neurological disorders that could be genetic and so on. Genetics affect our lives pretty much from birth to death.

“It is only a matter of time” is a phrase we often hear a lot to foretell future scenarios. It is usually followed up by the qualifier “and money.” In this case, as with many technologies, the cost of sequencing will drop with time. It will get to the point where cost will not be a barrier. This will facilitate government regulators and medical boards to change policies on when it is appropriate to use genetic testing and what type of test. Eventually, insurance payers (private, Medicare, Medicaid) will cover genetic testing for life so clinicians can routinely order it. I believe that, within the next ten years, every newborn baby will be genetically sequenced with the data “textbook” being available for life.

About Haim Neerman

Haim Neerman is CEO of Variantyx, a provider of highly specialized genetic testing to clinicians and their patients.