Illumina’s Non-Invasive verifi® Prenatal Test Using cfDNA Significantly Reduces False Positive Rate of Fetal Aneuploidy

  Illumina’s Non-Invasive verifi® Prenatal Test Using cfDNA Significantly
  Reduces False Positive Rate of Fetal Aneuploidy Detection Compared to
  Current Standard Pregnancy Screening Practices

 Study Results Published in New England Journal of Medicine Show the verifi®
 Prenatal Test Achieves Positive Predictive Value Tenfold Higher Than Current
                               Standard of Care

Business Wire

SAN DIEGO -- February 26, 2014

Illumina, Inc. (NASDAQ: ILMN) today announced that in a direct comparison of
non-invasive prenatal testing (NIPT) using cell free DNA (cfDNA) to standard
prenatal aneuploidy screening in a general obstetrical population, the verifi®
prenatal test^1 significantly reduced the rate of false positive results for
the detection of fetal trisomies 21 and 18. In addition, the study
demonstrated that the verifi® prenatal test performs consistently well in all
pregnant women, regardless of their risk level for fetal aneuploidy.

The results of the study, entitled “DNA Sequencing versus Standard Prenatal
Aneuploidy Screening,” are available online today in The New England Journal
of Medicine and the full article can be accessed at
www.verifitest.com/news-events. The paper will be included in the February 27,
2014 print edition.

“The study reflects the diverse clinical screening practices and ethnic
variation present throughout the United States, and effectively answers
questions from the medical and scientific communities regarding the positive
predictive value (PPV) of the verifi® prenatal test in the general obstetric
population,” said Diana W. Bianchi, M.D., Executive Director of the Mother
Infant Research Institute at Tufts Medical Center, and lead author of the
publication. “In addition to the significant increase in PPV, the study shows
similar fetal fraction distributions in both high- and low-risk pregnant
women. Thus, from both a biological and technical perspective, the verifi®
prenatal test performs well in pregnant women of all risk levels.”

The prospective, multi-center, blinded study analyzed samples from 1,914
pregnant women (mean age 29.6 years) at all risk levels for fetal chromosome
abnormalities. The false positive rate for detection of trisomy 21 with the
verifi® prenatal test was significantly lower than conventional standard
screening (6/1909, 0.3% vs. 69/1909, 3.6%, p<0.0001). For trisomy 18, the
verifi® prenatal test also demonstrated a lower false positive rate when
compared to standard testing (3/1905, 0.2% vs. 11/1905, 0.6%, p=0.0325).
Importantly, the study showed a tenfold improvement in the PPV for the verifi®
prenatal test (45.4%) when compared to standard screening for trisomy 21
(4.2%) and a fivefold improvement in PPV for trisomy 18 (40% vs. 8.3%). Both
the verifi® prenatal test and standard screening correctly detected all cases
of trisomies 21 and 18. For all of the women enrolled in the study, pregnancy
outcome and neonatal follow-up data were obtained, including physical
examinations and karyotypes, if performed.

“The results of this study demonstrate that the verifi® prenatal test could
significantly improve clinical practice by reducing the number of invasive
procedures needed to clarify false positive results obtained with standard
screening,” said Richard Rava, Ph.D., Vice President, Research and Development
for Reproductive and Genetic Health at Illumina. “In this study using the
verifi® prenatal test, we have shown a tenfold improvement in the PPV for
trisomy 21 over conventional screening methods. Importantly, the performance
of NIPT using cfDNA in a general obstetric population, representative of
contemporary clinical practice in the US, is equivalent to previously
demonstrated performance in high-risk pregnant women.”

Illumina’s Reproductive and Genetic Health solutions use next-generation
sequencing (NGS) technology and advanced microarrays to generate
comprehensive, accurate genomic information to assist healthcare providers and
patients in making informed decisions for their reproductive health and
well-being. Illumina offers the non-invasive verifi® prenatal test (formerly
offered by Verinata Health, Inc.) in their CLIA-certified, CAP-accredited
clinical services laboratory, to detect chromosome abnormalities and
aberrations with improved resolution for consistent and dependable results.

About Illumina

Illumina (www.illumina.com) is a leading developer, manufacturer, and marketer
of life science tools and integrated systems for the analysis of genetic
variation and function. We provide innovative sequencing and array-based
solutions for genotyping, copy number variation analysis, methylation studies,
gene expression profiling, and low-multiplex analysis of DNA, RNA, and
protein. We also provide tools and services that are fueling advances in
consumer genomics and diagnostics. Our technology and products accelerate
genetic analysis research and its application, paving the way for molecular
medicine and ultimately transforming healthcare.

Forward-Looking Statements

This release may contain forward looking statements that involve risks and
uncertainties. Important factors that could cause actual results to differ
materially from those in any forward-looking statements are detailed in our
filings with the Securities and Exchange Commission, including our most recent
filings on Forms 10-K and 10-Q, or in information disclosed in public
conference calls, the date and time of which are released beforehand. We do
not intend to update any forward-looking statements after the date of this
release.

^1 The verifi® prenatal test is a non-invasive blood test that analyzes DNA
found in a pregnant woman’s blood to detect the most common fetal chromosome
abnormalities, including Down syndrome (trisomy 21 or T21), Edwards syndrome
(trisomy 18 or T18), Patau syndrome (trisomy 13 or T13) and sex chromosome
abnormalities.

Contact:

Illumina, Inc.
Investors:
Rebecca Chambers
858-255-5243
rchambers@illumina.com
or
Media:
Jennifer Temple
858-882-6822
pr@illumina.com
 
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