Companies such as Color Population Health, Helix OpCo LLC, InVitae Corp, and Sema4 are now using next-generation sequencing technology in genomics. This enables them to perform direct-to-consumer genetic testing. These products can involve either targeted analysis where libraries are enriched for pre-selected genes, or whole-exome sequencing. Next-generation sequencing provides superior data that can be used to analyse a much broader range of genes and mutations.

Technology Trends

Listed below are the key technology trends impacting the genomics industry, as identified by GlobalData.

Switch from using the Illumina OmniExpress chip to a customised Illumina global screening array (GSA) microarray

One of the most popular single nucleotide polymorphism (SNP)-BeadArray devices previously utilised by direct-to-consumer genetic testing companies is the Illumina OmniExpress chip. This product was employed by 23andMe,, MyHeritage, and FamilyTreeDNA. In 2017, 23andMe switched from using the Illumina OmniExpress chip to a customised Illumina Global Screening Array (GSA) microarray.

More recently, MyHeritage, and FamilyTreeDNA also switched to using the newer GSA product. It should be noted that MyHeritage DNA samples are processed in the FamilyTreeDNA laboratory, meaning that the two companies are linked in terms of the underlying technology.

Sources indicate that Illumina intends to discontinue its OmniExpress chip, in favour of the GSA product. As such, companies such as who continue to use this device will be forced to switch to the GSA, purchase Thermo Fisher Scientific products, or adopt next-generation sequencing technology.

Shift from SNP BeadArray chips to next-generation sequencing

It is expected that next-generation sequencing will eventually surpass SNP-BeadArray chips as the major technique used for a direct-to-consumer genetic testing.

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A major factor determining this shift will be the increasing affordability of next-generation sequencing reagents. Costs associated with next-generation sequencing have fallen dramatically over the last decade, thus removing one of the main obstacles to widespread implementation of this technology.

Major manufacturers such as Illumina have publicly declared their intent to drive the costs of next-generation sequencing down to $100 per genome and continue to work towards this goal.

This is an edited extract from the Genomics in Medical Devices – Thematic Research report produced by GlobalData Thematic Research.