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Illumina Points to Clinical Sequencing, Consumer Genomics for Future Growth


NEW YORK (GenomeWeb) – Illumina anticipates future growth for its business to come from areas that include noninvasive prenatal testing, cancer testing, population sequencing, and consumer genomics.

Clinical applications of genomics remain a particular focus for the company, and clinical or translational applications make up close to 50 percent of its revenues now, according to Illumina President and CEO Francis deSouza. During a conference call to discuss the company's third-quarter earnings last night, he said, "We continue to be encouraged by a myriad of developments that we believe will enable genomics to continue the progression from research to the clinic and, over time, the standard of care."

One area of expected growth is NIPT, which he said will benefit from increased coverage by health insurance for average-risk pregnancies. In the US, he said, the Florida and Minnesota Medicaid state programs recently decided to cover NIPT for average-risk pregnancies, as did Blue Cross Blue Shield in Tennessee and in North Carolina, bringing the total US population covered for NIPT for average-risk pregnancies to 43 percent.

Some big commercial insurers, including United Healthcare, don't cover NIPT for average-risk pregnancies yet, he said, but Illumina hopes that the American Congress of Obstetricians and Gynecologists will come out with new guidelines that might sway insurers to expand their coverage. 

Meanwhile, in Europe, Illumina has seen "strong growth" of its VeriSeq NIPT platform and continues to obtain regulatory clearances for that product in additional countries.

In Belgium and the Netherlands, he said, all pregnancies are now covered for NIPT, and NIPT is used for contingency screening in the UK, France, and Switzerland, while there has been "incremental progress" in Germany to adopt NIPT. In China, NIPT is used on about three to four million pregnancies per year out of a total of 20 million, "so there is still an untapped opportunity," he said.

In general, reimbursement for next-generation sequencing-based diagnostic tests continues to grow. "We continue to see the development of a more supportive landscape that we believe will accelerate the adoption of genomics in the clinic and will encourage further innovation in the field," deSouza said. For example, he said, Anthem, which has 27 million covered lives, recently said it will reimburse for large NGS panels in late-stage non-small cell lung cancer patients, which he said must include tumor mutational burden testing.

Also, he said, the US Centers for Medicare and Medicaid Services recently released final pricing of about $5,000 for a human genome, a decision that he said "is another important milestone to support the progression of whole genomes to the standard of care" over time.

In addition, he mentioned Rady Children's Hospital San Diego, which recently received $2 million in funding from the California Medical Assistance Program for a pilot project called Baby Bear to offer rapid whole-genome sequencing for critically ill newborns.

Another area of potential growth is immunotherapy. While there is "overwhelming interest in using the immune system to combat cancer," deSouza said, good biomarkers to pick out patients who will benefit from immunotherapy are still lacking. As an example of Illumina's engagement in this area, he pointed to a recent collaboration between the company and Memorial Sloan Kettering Cancer Center to identify genomic biomarkers that predict response to immunotherapy, using both whole-exome sequencing and whole-transcriptome sequencing.

Other academic cancer centers are also working on biomarkers of response to immunotherapy, he said, and liquid biopsy customers as well as clinical commercial customers "are driving a lot of our oncology business."

In addition, Illumina may benefit from applications of its technology in other clinical disciplines. For example, deSouza pointed out that under the 2019 National Institutes of Health budget, genomics and next-generation sequencing "continue to be areas of focus," in particular in oncology, cardiovascular disease, and neurodegenerative disease.

Besides clinical applications, Illumina expects growth from population sequencing projects. For example, deSouza pointed to the NIH's All of Us research program, which recently awarded $28.6 million in funding to three genome centers that plan to sequence the genomes of at least 1 million participants over time. He also mentioned the Healthy Nevada Project, which recently said it will expand to more than 250,000 participants in its next phase; a project at Yale University that plans to enroll at least 100,000 patients, starting in 2019; the UK's recent announcement to sequence 5 million genomes over the next five years as part of its health service; and a population sequencing project in France that will start with a pilot study early next year.

In addition, he referred to a cancer-focused initiative in Bangladesh that will use both Illumina's sequencing and array technologies. "This is notable as it shows that precision medicine and associated population genomics initiatives are extending their reach into developing countries," he said.

Finally, consumer genomics is also beginning to contribute to Illumina's growth. That industry has so far predominantly been "a US phenomenon," deSouza said, but there was a "healthy revenue contribution" from consumer genomics firms in the Asia-Pacific region in Q3.

Last year, he said, seven million consumer genomics samples were genotyped on Illumina products, which he said was more than in the 10 previous years combined. Last year's business was driven primarily by US customers interested in genealogy, he said. This year, growth in genealogy-related testing continues, "but we've seen other things." Illumina is tracking "a large number of companies" in consumer genomics around the world now, he said, and applications are broadening, for example, to health traits, wellness, nutrition, and fitness. "We're also excited about the potential for Helix to continue to expand that opportunity and continue to enable innovation for consumers to try out different reports in consumer genomics," he said.

In terms of geographic growth, deSouza singled out China, where Illumina's revenues have grown 30 percent so far this year, which followed 25 percent growth last year. In Q3, the MiSeqDx received regulatory approval from the China National Drug Administration for diagnostic testing, which he said was "a significant milestone for Illumina as we expand our clinical presence in the growing Chinese market."

DeSouza also addressed competitive dynamics in the sequencing market. BGI, he acknowledged, offers sequencing services at a lower cost per genome than others, but he claimed that Illumina's data quality and the reliability of its instruments are better and pointed out that some funding agencies prohibit the shipment of samples from the US to China. Long-read sequencing technologies, he said, represent a "complementary market" to Illumina's, as many customers use long reads to generate reference genomes and use short-read platforms from Illumina for production sequencing. "We expect that separation will continue going forward," he said.