NEW YORK (GenomeWeb) – As noninvasive prenatal aneuploidy testing gains popularity among doctors and patients, the field of providers keeps growing. One of the latest entrants is NIPD Genetics of Cyprus, which launched its Veracity test in June.
Veracity, which is based on a proprietary targeted sequencing and analysis approach and is currently performed in NIPD Genetics' laboratory in Nicosia, screens for trisomies 21, 18, and 13 and determines fetal sex. The test can be administered from week 10 of gestation, has an average turnaround time of seven business days, and is competitively priced, with cost varying between countries, according to CEO Philippos Patsalis.
The test is competing with a large number of providers that use technology developed by companies such as Sequenom, Illumina's Verinata, Roche's Ariosa Diagnostics, Natera, Premaitha Health, and others. "We are going to compete based on the fact that we have a very competitive test with technological advantages," Patsalis said. "That will give us the capability to grow and gain a good position in the market."
Patsalis founded the company, which focuses on cell-free DNA and noninvasive genetic testing, in 2010 as a spinout from the Cyprus Institute of Neurology and Genetics, where he has been chief executive medical director since 2007. For more than a year, he also served as the minister of health for Cyprus.
NIPD Genetics, which currently has 34 employees, has raised approximately $5 million to date from institutional and private investors in Cyprus, Greece, the UK, and the US — including the Cyprus Institute of Neurology and Genetics — and plans to raise an undisclosed amount of additional funding to support its growth and development of additional tests. It has also won several research grants for technology development, mainly from the European Union.
Veracity, the company's first commercial test, employs a targeted deep sequencing and analysis strategy that was developed and patented by NIPD Genetics and is different from the approaches of other companies, Patsalis said. It involves capturing and analyzing unique regions on chromosomes 21, 13, 18 and Y, called targeted capture sequences, or tacs, which were selected based on the absence of copy number variations and complex genomic elements.
Further, the company uses proprietary informatics to correct for GC bias and is able to estimate fetal DNA fraction very accurately, which he said enhances the test's overall accuracy. Test results are reported as the presence or absence of trisomies rather than probabilities, and fetal fraction is included in the report.
Veracity has been validated on three Illumina sequencing platforms — the HiSeq, MiSeq, and NextSeq — all of which NIPD Genetics has in its laboratory.
Initially, the company explored different approaches for noninvasive prenatal trisomy testing, including one that involved methylated DNA immunoprecipitation (MeDIP) and real-time quantitative PCR, but it eventually settled on the current targeted sequencing methodology, Patsalis said, because it enables both high accuracy and low production costs.
NIPD Genetics has conducted two clinical validation studies for Veracity in women with high-risk pregnancies, a multi-center study involving 600 women and a study with a foundation that included 100 women. Both studies correctly called all cases of trisomy 21, 18, and 13 and correctly determined the fetal sex in all samples, with no false positive results.
The studies will be submitted for publication in peer-reviewed journals and Patsalis is scheduled to present the results at Cambridge Healthech Institute's Advances in Prenatal Molecular Diagnostics conference in Boston next week.
NIPD Genetics has been offering Veracity since June and has received samples from several countries already. The test is currently available mainly in Europe, as well as in the Middle East. "We are going to expand to all the major regions, like all the other companies," Patsalis said. "It's our plan to expand and sell everywhere, basically." Longer term, the company also wants to transfer its test or underlying technology to other laboratories.
One competitive advantage, he said, is the company's location, with Cyprus being "at the crossroads of three continents: Europe, Asia, and Africa."
And while the test was validated in a high-risk pregnancy population, it is not restricted to that group. "It's a test that potentially can be used by any pregnant woman at any age after the 10th week of gestation," Patsalis said.
Health insurance in most countries currently does not provide reimbursement for NIPT, but he said he expects that "slowly but surely it will become part of many healthcare systems."
In the meantime, NIPD Genetics is working on new genetic tests that will focus on rare syndromes, single-gene disorders, and transplantation genetics, which it plans to launch in 2016 and 2017.