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NIPD Genetics Enters Cancer Dx Market, Expands Prenatal Testing

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NEW YORK – Genetic diagnostics company NIPD Genetics of Cyprus has launched a number of cancer genetic tests, a new area for the firm, while expanding its existing business by adding a new prenatal genetic screening test to its menu.

In addition to offering genetic testing services from its CLIA-certified and CAP-accredited laboratory in 24 countries, primarily in Eastern Europe, the Middle East, North Africa, and Asia, the firm also recently started a technology transfer program, allowing partners to bring its proprietary test technology in house.

By entering the oncology space, both for hereditary cancer testing and somatic tumor profiling, the company is facing a new set of competitors, including both commercial players and academic genetic and pathology labs. For cancer predisposition testing, for example, the firm is up against players such as Myriad Genetics, Centogene, and CeGaT.

Likewise, NIPT has been offered by a variety of companies in the area, including those that have established Illumina's Verifi or Roche's Ariosa Harmony test, Yourgene, Centogene, and BGI. Nevertheless, NIPD Genetics says its revenues have more than doubled each year for the past three years.

A 2010 spinout of the Cyprus Institute of Neurology and Genetics, NIPD Genetics has been offering a cell-free DNA-based noninvasive prenatal test, Veracity, since 2015. The test, initially designed for fetal aneuploidies and later expanded to include microdeletions, uses patented technology that relies on so-called targeted capture sequences, or TACS, to capture specific genomic regions. Using these targeted probes allows it to avoid certain areas of the genome, such as CNVs or repeat elements, and to sequence regions of interest at high read depth, which results in fewer false-positive and false-negative results as well as accurate assessments of fetal DNA fraction, according to the firm.

Philippos Patsalis, NIPD Genetics' founder and CEO, said the company has validated Veracity for microdeletion testing in clinical samples and has shown that it can avoid false positives, which are common with other NIPTs, and identify small microdeletions. The company plans to publish the results of the study in the near future, he added.

In addition, the company has further improved the bioinformatic analysis of the test so it can now be used not only in singleton but also in twin pregnancies, as well as in complicated cases such as IVF pregnancies or surrogate pregnancies, he said.

About six months ago, the company obtained the CE-IVD-mark for the Veracity kit, as well as for the Vega software and the sample collection kit that go with it.

Last year, NIPD Genetics launched an expanded NIPT, called Veragene, that screens for the same conditions as Veracity but adds point mutations in 50 genes associated with monogenic recessive disorders with moderate to severe phenotype. In addition to the maternal blood sample, it analyzes a paternal buccal swab for the same point mutations, and if both mother and father are carriers of the same disorder, the fetus has a 25 percent risk of having the disease.

Currently, there are no other prenatal screening tests for these monogenic disorders, Patsalis said, neither biochemical nor ultrasound-based ones, and the risk for inheriting them is unrelated to parental age. The Veragene test only includes the most common mutations associated with each disorder, he noted, for example 122 mutations in the CFTR cystic fibrosis gene and 88 mutations in the HBB beta thalassemia gene. "This is not exome sequencing or detailed screening – this is an NIPT for telling whether the fetus is at high risk," he said. Results from a clinical validation study of the test, which essentially combines carrier screening with fetal aneuploidy and microdeletion screening, will be published soon, he said.

While other companies offer a separate carrier screening test, combining this type of test with prenatal screening has several advantages, he said. For one, the cost of the combined test is "more or less the same" as the cost of standalone carrier screening, and all results come in a single report from a single lab. Finally, carrier screening, which should ideally happen prior to pregnancy, has not gained much traction among couples yet, Patsalis said, while many pregnant women do get an NIPT. "Here you have a test where you can offer this all at once," he said. 

NIPD Genetics' R&D team is currently working on the next iteration of the test, called Veragene Plus, which will increase the number of single-gene diseases tested to more than 200 and will include not only autosomal recessive disorders but also X-linked and autosomal dominant diseases. The new version will be available "in a few months," he said.

In addition to expanding its prenatal genetic screening offering, NIPD Genetics is moving into oncology testing, where its targeted sequencing technology, using different bioinformatics tools, is equally applicable.

Last month, the company launched several hereditary cancer panels, called PreSentia, as well as a number of somatic cancer panels called ForeSentia.

The PreSentia panels look for germline mutations in genes associated with hereditary cancer. The 19 currently available panels, which cover different tumor types and range in size from a single gene for thyroid cancer to 62 genes for a pan-cancer panel, are primarily intended for cancer patients suspected of having a hereditary cancer, as well as their family members if appropriate, Patsalis said.

ForeSentia panels are intended as companion diagnostics to help identify patients who could benefit from approved targeted therapies or clinical trials for drugs in development. In addition, they can help classify cancers and serve as prognostic tools, Patsalis said. Of the 12 panels the company has developed, seven are for different tumor types and another five for targeted therapy selection. ForeSentia does not currently measure tumor mutational burden or microsatellite instability, but this is "something which is in the pipeline," he said.

NIPD Genetics is also working on a liquid biopsy cancer test, he said, for which no launch date is available yet.

Beyond that, the firm has plans for additional genetic tests in various areas, all of which will use its targeted sequencing technology. "Our company has the necessary funds to develop other products and technologies in the fields of not only oncology but also preimplantation genetic testing, postnatal, and neonatal testing," Patsalis said. "We are working on many other products in other fields, [and] we use the same technology for all of them."

The company is funded through Cyprus-based and international investors and investment funds but has disclosed few specifics. In 2016, it obtained €5 million ($5.6 million) from investors in the US, the UK, and Cyprus. Since then, it has raised additional funds from international investors, Patsalis said, which cover all of its R&D projects.

Last year, for example, the firm signed a strategic partnership agreement with diagnostic services company Medicover, which included a "substantial investment" to support NIPD Genetics' R&D, sales, marketing, and customer service. Also, during a workshop held by NIPD Genetics at the European Society of Human Genetics annual meeting last month, a Medicover representative said the firm plans to launch the Veracity test in Germany this summer. 

"What we offer are premium products," Patsalis said. "However, because cost-effectiveness is extremely important in the genetic diagnostic market, we structure the technology, through automation and other pipelines, to offer these at an affordable price," which he defined as a price similar to the market average.

NIPD Genetics' sales have more than doubled each year for the past three years, he said. Another boost to its business could come from a technology transfer program the firm recently launched, and for which it is looking for collaborators and customers. "We have a lot of interest from companies, as well as genetic diagnostic laboratories that don't have the technology or the know-how and experience to do this kind of test to collaborate with us and send us samples," Patsalis said. "Later on, through technology transfer, [they could run] these in their own laboratories."

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