Precision Medicine Goes Mainstream

April 03, 2018
Heather Lavoie, Chief Strategy Officer


Banner image of female looking through a microscope.

My one health IT prediction for 2018 is precision medicine will become far more mainstream, with an expansion of insurance coverage for a range of tests to ensure effectiveness of medications and treatments. 

The American Cancer Society estimates there will be 1.7 million new cancer diagnoses in 2018. Approximately 609,650 Americans are expected to die of cancer this year. With roughly 1,670 deaths per day, cancer is the second most common cause of death in the United States. 

In my home state of New Hampshire, 8,000 people are expected to receive a cancer diagnosis this year, and the American Cancer Society projects 2,810 Granite Staters will die. Given how few degrees separate people who call New Hampshire home, it’s quite likely I’ll know at least one of these people. The truth is cancer touches almost all of us eventually.

In addition to the toll cancer takes on those who are diagnosed and their loved ones, treatment for the more than 15 million Americans living with a cancer history is quite costly. In 2014, the U.S. spent roughly $87.8 billion on cancer-related care. Patients paid a staggering $3.9 billion in out-of-pocket costs. 

Given the prevalence and cost, it makes perfect sense that the early efforts of precision medicine have focused on cancer. And they are starting to pay dividends.

Medicare Reimbursement for Genetic Testing

Just last month, the Centers for Medicare & Medicaid Services (CMS) began paying for FDA-approved cancer gene tests for Medicare recipients with advanced cancer diagnoses. At the risk of stating the obvious, this is a big deal as commercial health plans typically cover the services that Medicare does. 

Currently there are three tests eligible for reimbursement:

  • Foundation Medicine’s 324-gene panel test that detects mutations across all solid tumor types associated with 15 already-approved targeted cancer drugs.
  • Thermo Fisher Scientific’s test that determines how different drugs will address lung cancer tumors. The panel reports on alterations to 23 different genes, and physicians use that information to determine the best course of treatment. Three of the mutations currently have drugs to match them. 
  • Illumina’s genetic testing that helps clinicians identify which patients are well-suited for treatment of metastatic colorectal cancer with Vectibix®. 

Undoubtedly there are many more coming as genetic testing companies can now see a clear path to monetizing their innovations.

Consumer Interest in Genetic Testing Converges with Availability

At the same time, as the cost of testing has declined consumer interest in genetic profiling has increased significantly. The best known of the direct-to-consumer companies, 23andMe, reportedly has five million customers, 80 percent of whom have consented to participate in ongoing genetic research. 

Most recently, 23andMe made headlines when it became the first company to receive FDA authorization to test for cancer risk without a prescription. 23andMe is now allowed to provide consumers information on three genetic variants found on the BRCA1 and BRCA2 genes known to be associated with higher risk for breast, ovarian and prostate cancers.

Genetic Testing Determines More Than Cancer Risk

Image of DNA that talks about gene mutations. 

It is estimated that 40 percent of people have a gene mutation in their methylenetetrahydrofolate reductase (MTHFR) enzyme. In short, the presence of the MTHFR gene mutation means one cannot convert folate to its active form, methylfolate, complicating the effectiveness of certain antidepressants. In fact, Dr. Mark Hyman, medical director at the Cleveland Clinic’s Center for Functional Medicine, in his book, The Ultramind Solution, writes that people with a low folate level have only a seven percent response rate to treatment with antidepressants.

What this means for 350 million people worldwide who are affected by some form of depression is that certain antidepressants alone may not be the most effective treatment. Studies have found that supplementing with L-methylfolate, which is easily purchased at your local health food store or retail pharmacy, can improve people’s response to selective serotonin reuptake inhibitors (SSRIs) and serotonin-norepinephrine reuptake inhibitors (SNRIs). As this knowledge has spread throughout the psychiatric community, more practitioners are ordering a MTHFR gene mutation test, a simple blood test that can be done at any lab, before prescribing antidepressants.

As I think about the future of cancer and disease prevention, it’s clear to me we will need even more data to create the most complete patient picture. And that’s precisely how the work we do at Geneia of aggregating disparate sources of data and distilling this information into a comprehensive yet actionable patient view will complement the important efforts of genetic testing and personalized medicine innovations. 

Going Forward

Invariably, as consumers and their physicians know more about genetic risks, there will be more research into the factors that cause a genetic mutation to turn into cancer or another disease. There is much more to learn about the determinants of gene expression, including how gene mutations progress to disease and ultimately the personalized medical recommendations needed to reduce one person’s risk of a genetic variant developing into disease. Be sure to tune in to a future blog about breakthroughs in our understanding of telomeres and the role inflammation plays in gene expression.


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