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Juno Diagnostics Lowers Barriers to Noninvasive Prenatal Testing With At-Home Sample Collection

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NEW YORK – With the recent launch of its Hazel finger prick-based prenatal genetic screening test, Juno Diagnostics aims to reduce barriers to access in the noninvasive prenatal testing (NIPT) market.

The tests, which screen for trisomies 13, 18, and 21, require a physician's order but blood collection can be performed at home, removing the need for phlebotomy, which is both more invasive and inconsistently available, particularly to patients in rural areas.

"People think that phlebotomy is always there, and it's not," said Dirk van den Boom, Juno's founder and CEO. Previously, van den Boom spent almost 20 years at Sequenom, one of the first companies to bring an NIPT for chromosomal abnormalities to market, becoming the firm's president and CEO in 2015 prior to its acquisition by Labcorp in 2016.

Even some general obstetricians and gynecologists, van den Boom pointed out, won't have access to phlebotomy, creating a logistical hurdle for both doctors and patients. In addition to home delivery, Hazel collection kits can be easily stored in a physician's office, which van den Boom said is a selling point for physicians because it is likely to improve patient compliance.

"If we can innovate to remove the requirements for phlebotomy, we immediately make this type of testing accessible," he said.

The test starts with a finger prick, from which a few drops of blood are drawn via capillary action into a collection device that lyses cells and filters the sample to isolate the plasma fraction needed for analysis in slightly under 30 seconds via a proprietary method that is the subject of a pending patent application.

"We needed to develop a solution that allows us to collect from [a] finger prick because that's a relatively easy method, and then convert it into something that we can ship with low logistical cost to a laboratory for processing, and then develop a [laboratory] process that is able to give highly accurate results from these limited input amounts," van den Boom said.

He further explained that the small amount of blood collected puts no limit on the company's ability to detect chromosomal aberrations via whole-genome sequencing.

"We're not looking for mutations or anything like that," he said. "We're just looking to see [for example], is there more chromosome 21 than there should be based on the fact that the mother's [chromosome 21] is normal, in terms of not having an extra copy."

Juno analyzes all samples at its San Diego lab facility, using "standard next-generation, whole-genome sequencing," with a turnaround time of approximately 48 hours from sample receipt to result and a laboratory infrastructure that enables processing of up to one million tests per year.

The company has conducted validation studies that van den Boom said it plans to make public via peer-reviewed publication in the near future.

"Our performance for the assay is on par with what everybody else has in the market," he said.

Hazel currently costs approximately $600 but is reimbursable through the Centers for Medicare and Medicaid Services, as well as through several private payors.

Hazel's list price puts it at the lower end of the scale for first-line prenatal screening tests, which a recent market report estimated at between $619 and $744.

Although Juno appears to offer the only finger prick-based prenatal screen for chromosomal abnormalities, its unique market position may not last long. Myriad Genetics recently acquired Gateway Genomics, for example, whose SneakPeek Early Gender DNA Test also involves home collection of blood samples, although without Juno's proprietary plasma generation capability.

In a recent investor call, Myriad President and CEO Paul Diaz noted that nearly 60 percent of SneakPeek customers go on to order prenatal screening. The company also said in an email that it plans to "evaluate opportunities to further leverage these innovations and build on Gateway’s experience with at-home blood sample collection pathways for current and future products."

Although Juno operates within the same overall NIPT market as larger players such as Myriad and Natera, van den Boom said that he does not see these companies as direct competitors, as they service different market areas.

Juno's ability to reach more remote patients may prove its differentiating factor from other potential competitors. According to a Bay Area gynecologist, who asked for anonymity as she did not have clearance from her hospital to comment publicly, expectant patients routinely get a variety of blood tests, making a blood draw for prenatal screening a simple add-on, particularly in well-off areas such as Silicon Valley.

"Our population has an extremely high rate of genetic testing already," she said, "and it is done concurrent with prenatal labs, [which] is very convenient."

While acknowledging that Hazel is not optimized to compete in well-furnished settings such as major hospitals, van den Boom countered that the firm doesn't yet have to.

There are enough pregnancies in less well-equipped areas, he said, to provide Juno with a steady customer base, and even in areas such as Silicon Valley, "you'll find [physicians] that have women coming in just to do a blood draw for NIPS. They're not coming in for any other reason."

In these cases, he argued, Hazel provides a cheaper, faster alternative to a standalone blood draw that's followed by an NIPT.

While currently available only in the US, Juno plans to eventually expand Hazel's availability abroad.

"We understand the US really well," van den Boom said, "but there's a huge amount of international opportunity, as well, and having a phlebotomy-free solution is incredibly valuable."

Details on Juno's future plans remain light at the moment, while the company focuses on sales and distribution of Hazel, along with its Birch fetal gender test. The company does, however, intend to develop further reproductive health testing products and plans to explore other areas where phlebotomy-free solutions may prove useful, including in oncology and autoimmune disease.

"You have a lot of outpatient procedures or monitoring where being able to collect the sample … in a simpler fashion is highly valuable," van den Boom said.

Juno closed a $25 million Series A financing round last year and currently employs approximately 40 people, a number expected to rise as Hazel sales ramp up.

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