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The genome is out of the bottle

Jennifer Girka, Healthcare Strategist Dell EMC
Written by: Jennifer Girka

Rapid advances in precision medicine are driving change across healthcare. The power of data-driven insight is fundamentally changing the way we look at health and disease. Now is the time to identify and seize opportunities to transform healthcare for the better.

Like a genie freed from a lamp, advances in genomics and proteomics have unleashed powerful forces in what many are calling the Million Genome Era (Fig 1). Medical Futurist, Dr. Meskó Bertalan, likens the impact on healthcare to the discovery of bacteria, viruses, and human blood types.

Many are already familiar with the astonishing progress in reducing the cost and time of genome sequencing—$3 billion and 13 years to complete the first whole human genomic sequence in 2000 to approximately $1,000 and with results as fast as 22 minutes today.

Recent news items reveal other ways that precision medicine is changing the way we think about and potentially address issues, from motivating lifestyle changes to reducing regulatory burdens.


Figure 1. The Million Genome era is upon us, with initiatives aimed at collecting genomic, lifestyle, environmental and social data from millions of patients across the globe.


FDA approves first direct-to-consumer genetic health testing

In April, the FDA reversed its 2013 moratorium on genetic health testing by 23andMe, and announced it was allowing the company to market genetic health risk (GHR) tests for certain diseases.

These are the first direct-to-consumer genetic tests authorized by the FDA. Previously, patients in the U.S. needed to consult with a medical professional to order genetic tests and get results. Now for just $199, consumers can send in a saliva sample to 23andMe and, in addition to learning about their ancestry, find out if they have genetic mutations that increase their risk for ten specific diseases, including Parkinson’s, late-onset Alzheimer’s, and Celiac disease.

The FDA also announced that it is establishing “special controls” that describe the testing that 23andMe conducted to win approval, so that other providers “might enter the market as quickly as possible and in the least burdensome way” after a similar one-time FDA pre-market review. This roadmap for other companies, reports the New York Times, “is expected to open the floodgates for more direct-to-consumer tests for disease risks.”

When there is no way back, move forward

Now that we know that we each have a unique genetic code—one that may predispose us to specific conditions and cause a very different response to medical interventions and treatments—there’s no putting that genie back in the bottle.

Is it possible that, now loosed, the genome genie is powerful enough to grant all three of our healthcare wishes: Better health outcomes? For more people? At less cost?

Advances in genome sequencing, pharmacogenomics mapping, RNA sequencing, molecular assays, epigenetics, and NGS sequencing, are transforming research, life sciences, and care.

Progress can be seen from all players involved—including patients, providers, payers and regulators:

  • Patient progress

Patients with cancer, degenerative, and chronic conditions are demanding more precise diagnosis and targeted treatment. And patients of all kinds are asking: “Is this treatment right for me?” 

Wellness initiatives spurred on by predictive medicine are no longer just mere aspirations but are becoming a reality. A recently published study in Cell Metabolism, for example, shows that just 12 weeks of high-intensity interval exercise improves age-related decline in muscle mitochondria. What would it mean if patients could see the physical impact of exercise or other lifestyle changes on their own cells? Would it motivate behavioral changes that could reduce the incidence or severity of chronic diseases, which consume as much as 80 percent of U.S. healthcare dollars? 

Individuals can already purchase at-home, blood-based testing from TeloYears for just $89 that analyzes telomere length (protective caps on the ends of DNA strands that protect genetic information, and that shorten with age, but are also affected by lifestyle). In addition to the analysis, individuals receive a report on the specific actions they can take to slow their cellular aging.

  • Provider progress

When looking at the big picture, perhaps it’s not clear how precision medicine is having an impact on care delivery, but when we look closer, we see some exciting developments. Duke University Medical Center, for one, is not waiting to move forward. They’ve developed a new proactive, personalized, and preventive model of clinical care that applies the best available technologies today. 

Their clinicians use biomarkers, genomic analysis, proteomic and metabolomic analyses, drug metabolism tests, and companion diagnostics to inform initial risk assessments, identify disease, customize therapy, and monitor and refine treatment based on patient progress. Each patient has a living Personalized Health Plan, available to the patient and all team members—and continually revisited in person, by phone, and/or via patient portals and mobile applications.

  • Regulatory and payer progress

When the idea of regulation and governance comes up, most see the challenges and road blocks that exist in realizing the promise of precision medicine. And there are many, but it is important to also notice that positive trends are taking shape. For example, ⦁ r⦁ egulators are experimenting with open source techniques, such as crowd-sourcing, to evolve meaningful standards that can keep pace with innovation. And, as evidence mounts validating the outcome and cost benefits of more precise care, ⦁ payers are beginning to take notice.

In the midst of rapid and radical change, now is the time to identify and seize this opportunity prompted by a precision medicine movement to transform healthcare for the better.