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DTC Developments, Luminex Dx Plans, Biobank Deals Topped Readers' Interests in 2013

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If there was ever a year that microarray technology went mainstream, it was 2013. And though firms had targeted it for years, it wasn't the clinical market where arrays impacted the average person's life, but the direct-to-consumer genomics market, particularly via genetic genealogy and ancestry testing services.

In 2013, any customer who ordered an autosomal DNA test from Ancestry.com, Family Tree DNA, National Geographic's Genographic Project, or 23andMe received information about the technology behind the service: Illumina-manufactured genotyping arrays containing hundreds of thousands of markers that enable service providers to provide clients with information about their deep ancestry and biogeographical origins and allow them to connect with relatives via online communities.

As Spencer Wells, director of the Genographic Project, noted in an interview in October, 2013 was the year that consumer genomics "went mainstream," largely on the back of array technology, with an estimated million customers tested to date, a number that Wells expects to double sometime this year.

And perhaps because of this growing awareness, stories that discussed the consumer genomics market made up half of the top ten most read BioArray News articles published in 2013.

The most obvious beneficiary of the growing ubiquity of array-based consumer testing is Illumina, which provides chips to all four major service providers. In May, CEO Jay Flatley estimated that the San Diego vendor would generate about $50 million in consumer-related revenues in 2013. Given the market preference for lower complexity microarrays, plus the availability of chips that can be used to assay eight, a dozen, or, more recently, two dozen samples at a time, DTC genomics firms have been able to lower the prices of their autosomal DNA testing services to between $99 and $199, a "goldmine pricepoint" that has provided the consumer market with, in Flatley's words, "enormous elasticity."

Customers have not been relegated to the role of the passive consumer in this technology-driven market uptake. Instead, all four major providers allow clients to download their array data, allowing them to upload that information to third party sites to reanalyze their results, or connect with relatives who might have opted to test using a different provider.

These so-called "citizen scientists" are often individuals with little or no academic background in computational biology, yet they have immersed themselves in its nuances, making arrays a technology that is now known far beyond the walls of university cores and biotech R&D labs.

"The genie is out of the bottle," Family Tree DNA CEO Bennett Greenspan told BioArray News in April. "These citizen scientists are smart, they don't have an agenda, and I think this is going to be a broader and broader trend," he said.

While microarrays have become the dominant technology in consumer genomics space, 2013 was also the year that next-generation sequencing became available to ancestry testing enthusiasts with a specific focus on tracing their deep paternal ancestry via Y chromosome analysis. The news that Family Tree DNA would begin offering a Y chromosome sequencing service, following Rockville, Md.-based Full Genomes' earlier entry into the market, was the top BioArray News story of 2013.

Luminex looms large

Consumer genomics may have captured the greatest attention last year, but molecular diagnostics was never far behind. And it was Austin, Texas-based Luminex's activities in the clinical arena that seemed to interest readers the most.

Luminex began the year with two major developments — the news that it would shift to a direct sales model for its molecular diagnostics business, and that the US Food and Drug Administration's had cleared its xTAG Gastrointestinal Pathogen Panel (GPP) for clinical use on its LX 200 instrument.

In April, the FDA also cleared the GPP for use on the company's benchtop MagPix system, allowing it to sell the assay to smaller clinical labs.

The GPP, which is based on Luminex's bead array technology, enables users to detect 11 gastrointestinal pathogens in a single, five-hour assay.

Though Luminex does not break out revenues generated by certain products, the company portrayed adoption of the GPP positively, and CEO Patrick Balthrop said in September that GPP sales would be a "key contributor" to the double-digit growth the firm anticipated for the full year.

Luminex started 2013 by anticipating FDA clearance for a second bead array-based assay called NeoPlex4, which tests for four analytes related to congenital hypothyroidism, congenital adrenal hyperplasia, and cystic fibrosis, and for which the firm had achieved a CE-IVD marking in 2012. However, the firm changed course in August, when it announced that would divest its newborn screening business, close an office in Brisbane, Australia, and layoff about 35 employees.

Balthrop cited a "burdensome" US regulatory process as one of the reasons the company decided to sell its newborn screening business, including the NeoPlex4 assay.

Other issues clouding the back half of '13 for Luminex were related to lower or delayed reimbursement experienced by customers using its tests, a result of the US Centers for Medicare & Medicaid Services' decision to move to a gap-fill process to price new codes for molecular tests. Luminex said it missed its third quarter revenue guidance because a large customer decided to delay an order, given the ongoing uncertainty about reimbursement, and the company decided to lower its full year forecast because of those issues.

Biobanks and PGD

In 2013, the activities of Illumina and Affymetrix, two of the largest microarray vendors, were somewhat obscured by interest in consumer genomics and Luminex's molecular diagnostics business. But readers showed continued interest in the firms, especially in regards to new market opportunities.

In March, Affymetrix announced a deal with the UK Biobank that will see the Santa Clara, Calif.-based company genotype UKBB's 500,000-sample biorepository using a custom-designed array. Affymetrix commenced genotyping the samples in the third quarter, and expects to process the majority of the samples this year, before wrapping up the project by June 2015.

In May, former CFO Tim Barabe called the UKBB deal the "largest genotyping study that's ever been undertaken," and said it will have its primary impact on the firm's revenues in 2014. Affymetrix continued to post double-digit genotyping array revenue growth throughout the year, driven by the adoption of its CytoScan platform for use in constitutional and cancer cytogenetics, as well as success in other applied markets, such as agricultural biotechnology. Still, the growth was not enough to offset declines in its legacy gene expression business, and forced the company to suspend its financial guidance in the second quarter.

While 2013 saw Illumina's fortunes rise with the success of its consumer genomics clients, the firm also focused on building its reproductive health business. Throughout the year, the company portrayed its 2012 acquisition of Cambridge, UK-based BlueGnome as a positive move for the company and its array revenues.

In March, CFO Marc Stapley said that BlueGnome's 24sure arrays for preimplantation genetic diagnosis represented a "significant opportunity" for Illumina, even though they have barely penetrated the global market of 1.5 million in vitro fertilization cycles performed annually. "Think about if you could get to 10 or 20 percent or even 50 percent of that market, and you can see how significant that would be," Stapley said of BlueGnome's opportunity.

Illumina executives also saw the potential for integrating BlueGnome's resources with Verinata Health, a company Illumina acquired in January that offers noninvasive prenatal testing on its next-generation sequencing platform. Stapley said that it has been clear to the firm's management that BlueGnome and Verinata "should get in a room together and talk about where synergies might be."


The following are the 10 most read BioArray News stories of 2013.

1. Family Tree DNA Expands beyond Array-based Offerings with New Y Chromosome Sequencing Service

2. At Investor Confab, Illumina Details 'Enormous' DTC Demand as Market Shifts to Less Complex Chips

3. Luminex CEO Discusses M&A Strategy, Divestiture as Firm Focuses on Existing MDx Developments

4. Consumer Genomics Firm 23andMe Adopts Illumina's 24-Sample Format for New Custom Chip

5. Customers of Ancestry Testing Services Turning to DIY Analysis Tools to Reanalyze Raw Array Data

6. Luminex Divests Newborn Screening Group Citing 'Unpredictable, Burdensome' US Regulatory Process

7. At Investor Confab, Illumina CFO Discusses Sequestration, Japanese Market, BlueGnome

8. Affymetrix's 'Massive' UK Biobank Genotyping Deal a Sign of 'Strong Interest' from Biorepositories

9. Despite Continued Genotyping Growth, Weak Expression Sales Force Affymetrix to Suspend Guidance

10. National Geographic Considering Move to New SNP Chip for Genographic Project

The Scan

For Better Odds

Bloomberg reports that a child has been born following polygenic risk score screening as an embryo.

Booster Decision Expected

The New York Times reports the US Food and Drug Administration is expected to authorize a booster dose of the Pfizer-BioNTech SARS-CoV-2 vaccine this week for individuals over 65 or at high risk.

Snipping HIV Out

The Philadelphia Inquirer reports Temple University researchers are to test a gene-editing approach for treating HIV.

PLOS Papers on Cancer Risk Scores, Typhoid Fever in Colombia, Streptococcus Protection

In PLOS this week: application of cancer polygenic risk scores across ancestries, genetic diversity of typhoid fever-causing Salmonella, and more.