Illumina’s Noninvasive Prenatal Screening Kit Receives Regulatory Approval in S. Korea

The First Next-Generation Sequencing Based NIPT In Vitro Diagnostic Test Is Now Available

News provided by Illumina, Inc.
Jun 23, 2020 17:00 KST

SEOUL, SOUTH KOREA--(Business Wire / Korea Newswire) June 23, 2020 -- On June 23, 2020, Illumina, a global leader in DNA sequencing and array-based technologies, announced it has received regulatory approval from South Korea’s Ministry of Food and Drug Safety (MFDS) of its Noninvasive Prenatal Screening Kit (NIPT), VeriSeq™ NIPT Solution v2. This is the first next-generation sequencing NIPT kit for in vitro diagnostic use approved in Korea. CE-IVD marked VeriSeq NIPT was first introduced across Europe and South Africa in June 2019 and as of June 2020, it is also registered in Australia, New Zealand, Israel, Turkey, UAE, Singapore and now Korea. According to the Statistics Korea[1], the proportion of high-risk pregnancy for women that are 35 years old continuing to increase every year reaching 33.3% in 2019, reliable NIPT testing is even more imperative.

“The MFDS regulatory approval is a significant milestone because now VeriSeq is the first next-generation sequencing test approved for NIPT clinical usage,” said Gretchen Weightman, Vice President and General Manager for Illumina in the Asia Pacific & Japan. “More importantly, receiving this approval equips healthcare providers and expectant parents with better resources and information for their pregnancy.”

The automated comprehensive solution allows labs to screen for a broader range of chromosomal and sub-chromosomal conditions associated with birth defects and adverse pregnancy outcomes. Unlike the standard NIPT menu detecting common chromosomal aneuploidies, now healthcare providers can provide expectant parents with informed pregnancy management better than ever before. Although most of rare autosomal aneuploidies (RAAs) and partial deletions and duplications that are >7 MB in sizes are known to be non-viable and resulting in a miscarriage but in mosaic states, they may persist and results in congenital defects and unfavorable pregnancy outcomes.

Founder and CEO of Diagnomics, Inc. in San Diego, CA and CEO of Eone Diagnomics Genome Center (EDGC), Dr. Min Seob Lee said, “EDGC was the first site in Korea to offer tests and send samples to Illumina’s CLIA lab in the United States for NIPT. Now with MFDS accrediting Illumina’s NIPT solution providing extended genetic information of fetus, we are excited to have a regulatory approved NIPT test. This will allow access on the process by internalizing the technology in the lab and see improved efficiency in serving our customers’ diverse demands associated with various implications.”

Illumina’s NIPT uses whole-genome sequencing with next-generation sequencing (NGS) technology to analyze cell free DNA (cfDNA) fragments across the whole genome, which has proven advantages over other NIPT methodologies such as targeted sequencing and array-based methods. Test failure rates are substantially lower with whole-genome sequencing versus other methodologies which can reduce anxiety of expectant parents and minimize the chance of taking confirmatory invasive tests, i.e Amniocentesis or Chorionic Villus Sampling.

The clinical accuracy of VeriSeq NIPT Solution v2, with respect to outcomes determined by a clinical reference standard assessment, was demonstrated by evaluating more than 2,300 plasma samples from pregnant women with singleton and twin pregnancies undergoing prenatal screening for fetal chromosome aneuploidies and partial deletions and duplications of 7 Mb or greater[2-5]. The study determined that VeriSeq NIPT Solution v2 provided highly sensitive and specific results - 95.5% of sensitivity and 99.3% of specificity for any anomaly. And low-test failure rate of 1.2% ensures emotional and health-economic benefits.

About Illumina

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture and other emerging segments. To learn more, visit www.illumina.com and follow @illumina.

[1] Preliminary Results of Birth and Death Statistics in 2019, published on Feb 26, by Statistics Korea (KOSTAT)
[2] S. Poster Abstracts of the ISPD 23International Conference on Prenatal Diagnosis and Therapy, Singapore, 7-11 September 2019. P1-65. Determination of the Detection Accuracy of Trisomy 21, 18, and 13 and Chromosome Y in Twin Pregnancies by VeriSeq NIPT Solution v2. Prenat Diagn. 2020;40(S1):62.
Published Conference Abstract (Free): https://obgyn.onlinelibrary.wiley.com/doi/epdf/10.1002/pd.5625
[3] Pertile MD, Flowers N, Vavrek D, et al. Poster Abstracts of the ISPD 23rd International Conference on Prenatal Diagnosis and Therapy, Singapore, 7-11 September 2019. P1-86. Performance of a genome-wide PCR-free, paired-end sequencing-based noninvasive prenatal screening test, VeriSeq NIPT Solution v2, in the detection of fetal chromosomal anomalies. Prenat Diagn. 2020;40(S1):74-75.
Published Conference Abstract (Free): https://obgyn.onlinelibrary.wiley.com/doi/epdf/10.1002/pd.5625
[4] Andrews D, Padhukasahasram B, Kim S, et al. Poster Abstracts of the ISPD 23rd International Conference on Prenatal Diagnosis and Therapy, Singapore, 7-11 September 2019. P1-66. Validation of VeriSeq NIPT Solution v2, a paired-end PCR-free WGS-based methodology for noninvasive prenatal screening of fetal aneuploidies and CNVs on a genome-wide scale. Prenat Diagn. 2020;40(S1):62-63.
Published Conference Abstract (Free): https://obgyn.onlinelibrary.wiley.com/doi/epdf/10.1002/pd.5625
[5] Bhatt S, Flowers N, Vavrek D, et al. Abstracts of the 29th World Congress on Ultrasound in Obstetrics and Gynecology, 12-16 October 2019, Berlin, Germany. OC02.02 Performance of a genome-wide PCR-free, paired-end sequencing-based noninvasive prenatal screening test, VeriSeq NIPT Solution v2. Ultrasound Obstet Gynecol. 2019;54(S1):3-4
Published Conference Abstract (Free): https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/uog.20430
 
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