Health care, Blood test
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Francis deSouza, CEO, Illumina

When the rough draft of the human genome was completed in 2000, President Bill Clinton declared to the world that “Genome science will have a real impact on all our lives …it will revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.”

In the 18-and-a-half years since this pronouncement, we’ve made tremendous progress in genomics. Whereas the first genome took 15 years and $3 billion to complete, we can now sequence a genome in less than a day for under $1000. Yet, I would argue that we are still a long way off from impacting all lives and all diseases.

Wide adoption of genomics into the clinic will take more than just technological advancement. Key in my mind are three things that we must stay focused on: actionability, access and education.


Physicians and patients are not interested in data for data’s sake. Sequencing only makes sense if there’s the possibility that something can be done with the data. More and more this is becoming the case, especially when it comes to cancer treatment.

There are now more than 40 cancer therapies with companion diagnostics in their labels. We’ve seen progress in treatments that target global signatures of genetic disruption such as tumor mutational burden (TMB). There have also been approvals of drugs for use in any tumor with the right genetics, regardless of the tissue of origin.

But the current drugs address only a small subset of the hundreds of genetic signatures that have been found to be associated with cancer. The inclusion of biomarkers in drug development and clinical trials is essential. I am heartened at FDA’s establishment of the Office of Drug Evaluation Science, which plans to develop standards in this area in collaboration with drug developers, academics and other stakeholders.


Patients won’t benefit from genomic tests unless they can afford them, which for most people means that insurance coverage is critical.

Non-invasive prenatal testing (NIPT) for all pregnancies is an example where coverage has lagged, keeping women whose pregnancies are not deemed high-risk from accessing a superior method for chromosome condition screening.

NIPT is the most accurate prenatal aneuploidy screening test available. But in the U.S., while 96% of lives are covered for NIPT in high-risk pregnancies, only 46% are covered for average-risk. Worldwide, the health systems of only the Netherlands and Belgium cover NIPT for all pregnancies.

Insurance coverage requires the development of high-quality evidence of benefit. It’s incumbent upon all of us in the genomics industry to invest in the studies that will deliver this data. As leaders in the technology behind NIPT, Illumina entered into a risk-sharing agreement with a health plan designed to deliver real-world clinical and economic evidence about the impact of implementing coverage of NIPT in average-risk pregnancies.


Actionable results and robust insurance coverage are necessary but not sufficient for a genomic test to be adopted. There will be no impact to care unless physicians offer tests, which requires that they are educated about and comfortable with genomics.

A personal passion of mine are rare and undiagnosed genetic diseases (RUGD), which affect 350 million people worldwide—more than half of them children. The usual path for these kids is months, if not years, of fruitless tests and a diagnostic odyssey lasting on average 5 to 7 years. But we know that sequencing can give up to perhaps half of families answers, and in many cases, direction on treatment.

Payers recognize the utility for sequencing in RUGD: 149 million lives in the U.S. are now covered for whole-exome sequencing (WES). There are encouraging signs that payers will eventually go further and cover whole-genome sequencing (WGS): CMS recently priced a CPT code for whole genome sequencing (WGS) and private insurer Priority Health just set policy to cover rapid WGS for acutely ill children. Outside of U.S., the U.K. will start offering WGS for genetic disease patients in 2019, the first national health service to do so as the standard of care.

But despite the actionability and coverage of WES for kids with RUGD, uptake is extremely low—we estimate less than 0.3% of covered, eligible kids have had WES. Why? A major issue is that doctors just don’t know sequencing is available. Those who do know sequencing is an option may not be comfortable ordering sequencing or interpreting the data that comes with it.

As we innovate new tests, it’s imperative that those of us in the genomics industry also put effort into educating the clinical community. One way we’re working on this is through our collaboration with the Blue Cross Blue Shield Association (BCBSA), in which we are analyzing genomic testing patterns across the U.S. and then using the data to develop educational programs for healthcare providers in areas where there are gaps.

We Are Only at the Beginning

The health of tens of thousands of people have been positively impacted by genomics, but there are millions more who can potentially benefit. There is so much work to be done. As we push forward to bring the power of genomics to the clinic, we must remember it’s not just about faster and cheaper. It’s about useful, it’s about available, and it’s about awareness.

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