NEW YORK (GenomeWeb) – Announcing last week the availability of its new Axiom Precision Medicine Research Array, Thermo Fisher Scientific hopes to carve out a significant role for itself in accelerating and supporting global initiatives in precision medicine.
The company is targeting the new array at the global screening programs of diverse populations that have been called for under President Obama's Precision Medicine Initiative as well as other types of large-scale clinical and translational research studies and frameworks that hope to answer questions about common and rare inherited diseases, genetic risk, immune response, and pharmacogenomic variation.
The new array covers 900,000 markers, including about 800,000 pan-ethnic imputation markers selected for high genomic coverage, and more than 100,000 clinically relevant or clinically actionable gene variants from public databases like ClinVar, CPIC, PharmaGKB and PharmaADME.
Laurent Bellon, Thermo Fisher's vice president and general manager of microarrays, told GenomeWeb this week that the new array is the firm's answer to the emerging needs of large-scale cohort studies and biobanking efforts, which are expected to be an important part of the ongoing PMI and other precision medicine efforts.
According to Bellon, the new array complements and fills out the company's genetic analysis portfolio amidst this new thrust of human genetic research.
"We have very strong presence in microarray-based human genotyping … and longstanding engagement with leading national programs … where the Axiom genotyping solution has been preferred by many cohorts over the years, and there have be a number of very seminal discoveries," Bellon said.
Compared to the company's previous biobanking arrays, which have been used primarily for population-specific studies, Bellon said that the new PMR Array is designed "so that every major population group will be well represented … with the highest coverage on the market."
A second major differentiation, he said, is in the clinically actionable, or clinically relevant variants. For example, Bellon said, one of the poster children of precision medicine is pharmacogenomics. "The ability to pharmacogenomically profile whole populations in regard to high or low metabolizer [status] will be of prime importance so we decided to include a lot of [PGx] content from a variety of public databases," he said.
Likewise, the new array also has a "tremendous amount of focus" on clinically actionable variants mined from ClinVar, and also reflects the American College of Medical Genetics and Genomics guidelines on clinical reporting of gene variants.
Thermo Fisher is not the only company to recognize and target these emerging and existing needs. Illumina recently created its own new chip, the Global Screening Array, to meet demand from biorepositories and large cohort studies that are keen to genotype their holdings at a high scale and low price.
As of this June, three major European genomics service providers had founded a consortium to offer whole-genome genotyping on the Illumina GSA.
While Illumina said it is offering its GSA at prices as low as $40 per sample with high-volume discounts, Thermo Fisher's new PMR Array has an even lower flat price of only $29 with no sample volume requirements.
According to the company, the $29 price point is intended to fuel widespread adoption amongst its target customers, who Bellon said obviously overlap with those that Illumina has sighted with its GSA.
Bellon also said the strength of Thermo Fisher's existing and longstanding relationships with biobanking efforts built through its other Axiom array products will be a boon in driving adoption of the new array, even amidst competition.
The company has made numerous agreements over the last few years, including a 2013 deal to develop a custom array to genotype all 500,000 samples in the UK Biobank's repository.
Bellon declined to discuss any early or potential customers for the new PMR Array, but stressed that the Axiom genotyping pipeline has been "the preferred solution of many biobanks worldwide," including the UKBB, the VA's Million Veterans Program, and numerous similar efforts in Asia. He also said that the company is entertaining "a number of conversations" regarding the new array.
While the PMR Array was designed to be very comprehensive, Bellon said that, like the company's other Axiom genotyping products, it is highly customizable.
"As comprehensive as the content is, we also fully expect that as a function of very specific study objectives there may be a need for tighter focus on specific areas of biology or specific honing on specific populations," he explained.
Importantly, he added, Thermo Fisher is also already preparing to create and release additional array products with a tighter clinical focus as the yield of the larger precision medicine genotyping efforts creates niches of new clinical research need.
For example, he said, the company plans later this year to release a specific pharmacogenomics product that will allow array-based genotyping with a much tighter focus on PGx implementation with "a higher degree of clinical relevance and interpretation."
The company also expects it will develop other very specific products aimed at a more clinical setting.
"We envision the PMR Array being used for a tremendous amount of novel discoveries in prospectively profiling all these cohorts … and with specific associations becoming available, it's logical to think more targeted tools will be [needed] to mine that specific information."
"[We think that] Thermo Fisher is extremely well positioned to capture … that particular downstream need of more targeted studies," he said.