By Allison Proffitt
February 20, 2013 | Seventeen million babies are born each year in China. Yet in 2010, the country only had the capacity to offer 150,000 amniocenteses a year. As the most populous country in the world with a well-established one child policy, that number is astonishingly low.
And it represents a ripe market for the next generation of prenatal testing.
The noninvasive prenatal testing space is the most extensive current clinical application of next-generation sequencing, says Diana Bianchi, Executive Director of the Mother Infant Research Institute at Tufts Medical Center. And it’s a busy one. Late last year, Natera expanded from paternity and miscarriage testing into NIPT. And Illumina announced plans to acquire Verinata Health last month.
Now Berry Genomics, co-founded by Daixing Zhou, is hoping to capitalize on the market in China.
“The [prenatal] screening rate, after 10 years of intensive effort, in 2008, was around 15%,” explains Zhou, CEO and founder of Berry Genomics. “Last year it was around 20%.”
Berry hopes to increase that percentage. The company is based in Beijing and was founded in 2010. In October 2011, the company completed the first round of financing from Legend Capital, a Beijing-based venture firm that is a part of Legend Holdings which also owns the Lenovo Group.
Berry now has more than 300 employees and collaborations with more than 300 hospitals in over 20 provinces, cities and autonomous regions in China so far.
Berry Genomics was born out of Zhou’s own experience. When he and his wife were expecting their second child in 2007, they experienced firsthand the anxiety that can come with pregnancy. “Most parents may experience that kind of anxiety,” Zhou says. But Zhou knew more than most parents about the sequencing options.
Zhou did his undergraduate work in China before earning his Ph.D. at the University of Maryland Medical Center at Baltimore. He went on to postdoctoral training at the Howard Hughes Medical Institute at Duke University Medical Center.
From there, his career was decidedly NGS-focused. He served as the Leader of Market Development at Life Technologies Corp., the Head of Sequencing Sales at Illumina-Asia Pacific Japan, the Director of Bioinformatics at Lynx Therapeutics/ Solexa Inc, and the Project Manager at Corning Life Science.
In late 2007 and early 2008, Zhou teamed up with Drs. Dennis Lo of Chinese University of Hong Kong (CUHK) and Yuan Gao of Virginia Commonwealth University (VCU) and discussed the possibility of using next generation sequencing to do prenatal detection by exploring the circulating fetal DNA. Applying their concept, Gao’s lab did a double blind test on 28 samples selected and provided by Lo—14 with trisomy 21 and 14 normal samples. Gao was able to identify 100% of the trisomy samples.
In 2009, Zhou returned to the U.S. to try and convince Life Technologies to pursue noninvasive prenatal testing. “It was not very successful because Life was so focused on getting a cancer project going in the U.S.,” Zhou said. So he returned to China—and with the help of two Chinese friends with NGS experience—built Berry Genomics.
Berry Genomics’ noninvasive prenatal test— Bambni Test—works similarly to others in the space. Circulating fetal DNA is extracted from maternal plasma and tested for abnormalities. The Berry test is currently looking at trisomy 21, trisomy 18 and trisomy 13, and other chromosome aneuploidy diseases as well.
The process is quite complex, though, Zhou says. He describes a four step process: sample collection and transporting to the testing facility; DNA extraction and library construction; sequencing; and data analysis.
The DNA sequencing is now the most standard step, Zhou says. “The other three parts: how you ship the sample, how you process and make it into a usable library, and then how you analyze the data...We think our technology has advantages in all three parts.”
Berry has streamlined the shipping and sample preparation processes and has developed proprietary analytics. “We have our own algorithm and software to do analysis; it’s quite different from anyone else in the world,” Zhou says.
Berry Genomics has completed two phases of clinical trials in cooperation with the Prenatal Diagnosis Center in Xiangya Hospital of Central South University and Peking Union Medical College Hospital.
In a study finished in May 2012, the goal was 2000 samples from pregnant patients in Beijing, Zhou says. When the study was completed, the team had 2300 samples and more than 95% of women got their results (3.8% samples failed sequencing, plus a few more samples failed the post-delivery follow-up). About 500 samples received invasive procedures in parallel.
In China, like in the rest of the world, the payor landscape is still developing. “There are a few models being debated by expert panels in China,” Zhou says. “We recommend that most pregnant women in China take the test if they don’t want to take the invasive test.” He believes the test is suitable for primary screening in the future.
Looking forward, Zhou hopes that noninvasive prenatal testing can be expanded to cover more chromosomal abnormalities. Defects on chromosomes 21, 18, and 13 only account for 30% of chromosomal defects. “Our goal is to improve our technology to be able to cover more and more anomalies including micro deletions and micro insertions,” Zhou says
Berry views the sequencing as a commodity. “It’s not the detection technology [that is most challenging], it’s the interpretation. We’re probably going to emphasize our efforts in the next year to better understanding the underlying biology,” he says.
Zhou’s goals are lofty: “My personal passion is to be able to make these technologies cover [detection of] almost all of the genetic defects.”