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Sagentia, Premaitha Partner on Commercial Software for NGS-based NIPT Product

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NEW YORK (GenomeWeb) – UK-based molecular diagnostics company Premaitha Health has selected Sagentia, a science, technology, and product development company, to develop a custom bioinformatics solution that will analyze data from IONA, a new next-generation sequencing-based non-invasive prenatal test (NIPT) that Premaitha is developing for clinical laboratories.

IONA, Premaitha said, will be the first complete CE-marked IVD product for NIPT available to clinical laboratories. IONA kits, which are expected to go on sale next year, will include reagents and software that clinical labs can use to offer their own NIPT internally. It's a different approach to the market that sets Premaitha apart from existing firms in the US and China that provide testing services to clinical labs, Premaitha CEO Stephen Little said.

IONA, Premaitha's first product for the diagnostics market, uses sequence data gleaned from cell-free fetal DNA in maternal blood samples to estimate the risk of a fetus having genetic abnormalities. It tests primarily for Down syndrome — also known as trisomy 21 — and also for Patau syndrome and Edwards syndrome — known as trisomy 13 and trisomy 18, respectively. Premaitha claims that IONA has a higher detection rate and a lower false positive rate than existing screening methods.

The software that Sagentia develops to accompany IONA will use proprietary multi-core analysis algorithms to process sequence fragments and clinical data, interpret findings, and report results. It will include tools to separate samples after sequencing, map fragments to a reference genome, and count reads to determine if there are more reads associated with a particular chromosome than would be expected, which would indicate the presence of an anomaly, Little told BioInform.

Premaitha plans to begin testing IONA in clinical settings at the end of the year, and expects to obtain CE marking and to commercially launch the test and accompanying software in the first quarter of 2015. Also next year, Premaitha will expand the range of things IONA can test for to include other chromosomal abnormalities that are well understood clinically, Little said.

Premaitha chose to partner with Sagentia because of its attention to accuracy and performance. "They [are] able to offer the development of the IONA software within a quality management system which ensured that performance of the product was assured at every step of the development process," Premaitha's Little said in a statement. IONA's software is being developed to meet IEC62304 and ISO13485 medical device development standards as well as requirements for CE marking, FDA submissions, and other regulatory approval processes.

Regulatory compliance was also one of Premaitha's primary considerations when it went shopping for a software development partner for IONA, Little further told BioInform. Currently, many bioinformatics companies still focus on tools for the research market and "struggle to cope with the challenges of working in the regulated diagnostic space," he said. The information generated by IONA will "guide significant medical decisions so it is important that every stage of the test is as accurate as possible," he added. Furthermore, Premaitha's primary expertise is test development, not software, so outsourcing the development made more sense, he added.

The ability to develop tools that meet medical regulatory standards is part of what sets Sagentia apart from other bioinformatics consultancies, few of which have systems in place to address such needs, Paul Wilkins, Sagentia's senior vice president and head of medical, said. The company also has carved out a name for itself in the medical market which includes the omics arena, he told BioInform. There it has worked with companies such as PathoGenetix, which picked Sagentia to develop a commercial system for rapid microbial detection and strain typing in 2011. Sagentia also worked with Enigma Diagnostics to support the development of a prototype of its Enigma ML PCR system.

Headquartered in Cambridge, UK with additional offices in the UK and the US, Sagentia, — which employs about 230 people — offers services to research groups in the medical, industrial, oil and gas, and consumer markets. Its services are typically patronized by early startups and large global companies, and they span the product development lifecycle covering areas such as concept generation and technology validation, prototyping and product development, feasibility testing, as well as manufacture and sustainability.

By one set of metrics, Wilkins said, Sagentia business can be divided into two arms, advisory and product development. It also has two broad categories in terms of the clients it provides services to. The categories are non-medical and medical, which encompasses the diagnostics market. Here, he said, Sagentia has developed clinical applications — including but not limited to software and hardware — for use in areas such as clinical chemistry, immunohistochemisty, and molecular diagnostics.

"A lot of the work we do is medical device development," Michael Cox, Sagentia's head of products, told BioInform "That can include multidisciplinary device development, [for example] a piece of hardware including some software, or it can be a medical device which is purely a software system" as is the case in the Premaitha partnership.

Projects can be as short as a week where the company might spend its time reviewing a design or trouble-shooting test results, or they can be several years long, and anything in between. Sagentia does not sell any software of its own. Any intellectual property that the company develops as part of its projects is owned by the customer.

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