The Rise of Genomics in Health Care

Blog post by Rasu Shrestha, MD, MBA

Our ability to decipher and harness a person’s biology to understand disease and the possible effects of treatment has led to a new frontier in medicine—the rise of genomics. The rise has been driven in part by consumer demand for affordable genetic insight. Whether the impetus is rooted in curiosity about ancestry or health, the common threads are the proactive consumer and advancing technology, and the result is a burgeoning genomics industry and the progression of precision medicine.

Increasing functionality, affordability and access to genomic testing is making precision medicine more and more readily available. Five years ago, there were fewer than 1,000 available genetic tests. Today, there are over 52,000. In the same amount of time, the cost to sequence a person’s DNA dropped from $10,000 to less than $1,000. Direct to consumer (DTC) products that test for specific genetic markers can cost less than $200.

Health systems currently use genetic testing primarily for diagnosis and identifying effective treatments for patients who are already sick. In March 2018, the Centers for Medicare & Medicaid Services (CMS) announced it will reimburse for genetic testing of Medicare patients with advanced cancers, which allows physicians to match patients with drugs that are most likely to be effective. Where CMS goes, private insurers often follow, causing some to say this announcement represents precision medicine breaking into the mainstream.

While health systems may increase their use of genetic testing for treatment purposes, many healthy consumers wish to maximize genetic insights to be proactive about avoiding disease, or are simply curious about their genetic ancestry. These consumers may not fall under the “treatment” or “diagnostic” needs categories. Currently, DTC companies cater to this proactive, curious market: affordable at-home tests allow consumers to screen for increased risk of genetic mutations that can predispose a person for a particular disease. In March 2018, the U.S. Food and Drug Administration (FDA) approved the first at-home genetic test for breast cancer that does not require a doctor’s prescription. Other conditions and diseases that DTC genetic products can screen for include high cholesterol, heart disease and stroke.

Health systems are able to facilitate genetic testing for the same conditions and genetic markers as DTC tests. In fact, the Center for Connected Medicine’s (CCM) Top of Mind 2018 digital health trends survey found 57 percent of responding health systems are using or planned to begin using genomic testing to provide personalized care to patients in 2018. However, going through a physician or genetic counselor will usually cost more than 23andMe’s $199 and insurers typically won’t pay for genetic tests that don’t provide a medical benefit to the patient.

Due to this current economic reality, patients are taking DTC test results to physicians for consultation on treatments. A June 2017 ‘viewpoint’ in the Journal of the American Medical Association by Kimberly Lovett Rockwell, MD, associate, Jones Day, suggests DTC tests can cause additional and sometimes unnecessary costs. For example, when presented with results from a test a provider is unfamiliar with, the provider may choose to send the patient for additional tests, which may be unnecessary. Yet, a study recently published in Nature emphasizes the importance of confirming DTC raw data variants in a clinical laboratory. It is also important to consider the limitations of genomic testing: DTC tests can detect genetic markers that increase disease risk, but being at risk doesn’t mean the consumer will develop the disease.

Given what we know about market forces, proactive consumers, and the direction of the genomics industry, I believe we can expect a growing volume of these DTC-inspired patient-provider interactions. We are also seeing providers incorporate genomics in pursuit of precision medicine, and regulators and payers change policies to make genomics more affordable for patients. These shifts are set against a backdrop of terrific research initiatives that endeavor to ultimately allow us to pair genotypes with treatment on a population level.

I’m excited to pull the #hcldr community together to discuss this fascinating, evolving subject!

Please join us Tuesday, April 17, 2018, at 8:30 pm ET (for your local time click here) as we discuss the following topics:

  1. What would you expect from your health care provider if you share your genetic risks as a result of genomic sequencing?
  2. Where do you prioritize genomic testing versus other forms of screening/testing in terms of accessibility and affordability?
  3. What needs to change in the next decade to make genomic sequencing a standard of care?
  4. What are your greatest concerns with the implementation of genomic sequencing and its impact on health care delivery?

I’ll also be discussing genomics in a CCM webinar called The Rise of Genomics: Consumerism, Commercialization and Health Care on May 15, 2018, where I’ll be joined by Jill Hagenkord, MD, chief medical officer at Color, Mylynda B. Massart, MD, PhD, Co-Investigator, All of Us Pennsylvania, Houman Modarres, Senior Director of IP Networks, Nokia, and Martin Reese, Founder, President and CEO, Fabric Genomics. If you’re interested in genomics and captivated by our #hcldr tweet chat, be sure to join the webinar for an in-depth look at the genomics landscape – from research and population health to the DTC model and the role of health systems to regulation, reimbursement and ethics. We’ll also continue the discussion online, so be sure to follow @connectedmed and tune in using #RiseOfGenomics.

About the Author

Rasu Shrestha, MD, MBA, is chief innovation officer at UPMC, executive vice president at UPMC Enterprises, and an executive steering committee member at the Center for Connected Medicine (CCM). The CCM is the world’s first collaborative health care executive briefing center, supporting stakeholders in defining the transformation of health care. It serves as a resource for innovative patient-centered and population health models, showcasing strategically integrated health information technology. By facilitating connections among those who deliver, receive, and support health care, the CCM helps promote cultural change, coordinated care delivery, and greater patient engagement. Located in Pittsburgh, Pa., the CCM is operated by five partners — GE Healthcare, IBM, Lenovo Health, Nokia and UPMC — representing various facets of the health information community.


Andrews, Michelle. “Don’t Count On Insurance to Pay for Genetic Tests.” NPR, December 10, 2013,

Begley, Sharon. “Before you send your spit to 23andMe, what you need to know.” STAT News, April 7, 2017,

“CMS finalizes coverage of Next Generation Sequencing tests, ensuring enhanced access for cancer patients.”, March 16, 2018,

Hede, Karyn. “Genomic Medicine Has Entered the Building.” Hospitals & Health Networks, August 15, 2017,

Molteni, Megan. “With Medicare Support, Genetic Cancer Testing Goes Mainstream.” WIRED, March 20, 2018,

Rockwell, Kimberly Lovett (2017). “Direct-to-Consumer Medical Testing in the Era of Value-Based Care.” Journal of the American Medical Association,;utm_source=JAMAPublishAheadofPrint&utm_campaign=25-05-2017

“Should you try a home genetic test kit?” Harvard Health Letter, August 2017,

Tandy-Connor, Stephanie et al. (2018). “False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.” Nature,

“Top of Mind for Top U.S. Health Systems 2018.” Center for Connected Medicine, December 2017,

Wetterstrand KA. “DNA Sequencing Costs: Data from the NHGRI Genome Sequencing Program (GSP).” Available at:

Zhang, Sarah. “23andMe Will Now Test for BRCA Breast-Cancer Genes.” The Atlantic, March 6, 2018,

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