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Elucigene Diagnostics to Launch CE-Marked Y-Chromosome Microdeletion MDx for Male Infertility

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NEW YORK (GenomeWeb) – Elucigene Diagnostics, a maker of PCR-based molecular tests, is branching further into the reproductive health and in vitro fertilization markets with assays for recurrent pregnancy loss and Y-chromosome microdeletions that can cause male infertility.

The majority of the firm's tests use capillary electrophoresis instruments from Thermo Fisher's Applied Biosystems, Chris Jones, Elucigene's sales and marketing manager, told GenomeWeb in an interview this week.

Elucigene has a standing collaboration with that firm to validate its kits on the 3500 Dx instrument, and recently presented that work at the American Society of Human Genetics annual meeting, he said.

The Manchester, UK-based firm dates to the mid 1990s and has a history that involves being part of AstraZeneca Diagnostics, Orchid BioSciences, Tepnel Life Science, and ultimately Gen-Probe.  

Elucigene was acquired from Gen-Probe/Hologic in October of 2013 by Scott Higgins and Mike Webb — who had both been involved with the company for many years — via a structured buyout with assistance from venture capital and private equity funding.

The firm's new Y-chromosome microdeletion test will be available in Europe as a CE-marked in vitro diagnostic next week, with an official marketing launch of the product planned in September.

Meanwhile, the firm is presenting a poster describing its quantitative fluorescence-PCR assay for recurrent pregnancy loss at the International Society of Prenatal Diagnosis conference this week in Washington, DC.

That assay measures the six most common autosomal trisomies associated with miscarriage, and can "provide closure to patients or couples who have undergone a traumatic miscarriage event and can aid the management by modification of risk calculations for future pregnancies," according to the abstract.

Elucigene's kits normally contain a highly multiplexed PCR reaction with Applied Biosystems labeled primers, Jones said. The customer does the PCR reaction on the DNA sample, and then that is run on the genetic analyzers using Elucigene's specific protocols and settings, with results interpreted using the GeneMapper software from Applied Biosystems, he said.

Service providers who perform prenatal genetic disease and preimplantation diagnostics are potential competitors, but they often perform large-scale screening, whereas Elucigene is focusing on providing labs with a diagnostic product which can work "hand-in-hand with what they're doing already," Jones said.

"Where we see the market growing for us is really around reproductive health and IVF clinics, so that is why we're bringing out this male factor infertility kit," he said.

The IVF space has been noted for being a lucrative, cash-pay market. Infertility diagnosis is sometimes covered by health insurance, but treatment is usually not and can be quite costly.

Other companies in the pre-implantation genetic diagnosis space include Agilent Technologies and Illumina. Promega has a Y-chromosome microdeletion assay, and Quest Diagnostics and ARUP Laboratories both offer tests.

Yet Jones sees a possible advantage for Elucigene due to recently-published European testing guidelines which advocate increased testing, a focus on AZFa, AZFb, and AZFc regions of the Y-chromosome, and sizing of the microdeletions.

"There are a lot of homebrew kits which are done by labs, as well as some commercial products, but ... we believe that we have the first commercial kit which actually meets all the guidelines," he said.

While there is some wiggle in the exact proportions, male infertility seems to affect as many as half of all couples who experience trouble conceiving, with around 10 percent of these cases due to microdeletions on the Y-chromosome that cause no other symptoms besides impaired spermatogenesis.

In some cases of Y-chromosome-based infertility spermatozoa can be retrieved from testicular biopsy and used for intracytoplasmic sperm injection into an egg in vitro.

However, "retrieval of sperm has been successful mainly for most males with deletions of AZFc, and rarely for males with deletions of AZFb or AZFa," according to a recent review.

The Elucigene microdeletion kit will be available next week in Europe and via a special access permit in Canada, and the firm has begun the submission process in Australia as well.

The firm intends to enter the US market, and is evaluating which of its reproductive health assays it will take through the US Food and Drug Administration clearance process, Jones said.

The company's marketing strategy — which includes direct marketing to existing customers, a commercial sales team, a large footprint of global distributers reaching nearly 50 countries, as well as social media and a web presence — also involves attending conferences in the US.

"That gives us an opportunity to meet American customers to make sure that the product we take through [the FDA] is going to have the biggest impact on revenue and for the customers," Jones said.

In terms of the 3500 Dx development collaboration, Jones noted that it allows Elucigene to position its kits better in the market, and may also help keep that platform evolving within the market by offering customers a fully validated CE-IVD workflow.

Elucigene is also developing other assays that it plans to launch in 2016 focused around recurrent pregnancy loss and thrombosis, Jones said.

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