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Meet the California start-up reimagining prenatal screening

Biotech start-up Juno Diagnostics is poised to support women through every step of the pregnancy journey

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Juno Diagnostics co-founder and chief medical officer, Dr Mathias Ehrich, and director of genetic counselling, Katie Sagaser

Born out of a need to address the problems within the US prenatal healthcare system, Juno Diagnostics is on a mission to shake up the landscape of traditional prenatal care. We speak to co-founder and chief medical officer, Dr Mathias Ehrich, and director of genetic counselling, Katie Sagaser, to find out more.

Tell us a bit more about the story behind Juno.

Mathias Ehrich: Our aim has always been to create equitable access to high-quality prenatal care. We want all women to have the opportunity to learn about their pregnancy and feel empowered to make informed decisions.

In launching the world’s first capillary-based cfDNA non-invasive prenatal screening test, we looked to create an affordable test that met our goals of accessibility and transparency.

So in 2011, the Juno co-founders and I were working together at a life sciences company to pioneer the development and commercialisation of the first cell-free DNA-based non-invasive prenatal screen (NIPS) in the United States.

There, we drove a lot of innovation in pregnancy care and prenatal care up until the company was acquired in 2016. At the time, only about 800,000 women had true access to NIPS.

So when we looked at the problem again, we found a couple of things in the market that were not working. 

First of all, most NIPS tests were too expensive, and second of all, they were difficult to access. In almost 50 percent of all US counties, women don’t even have access to an OB/GYN, let alone a phlebotomy service.

So women really had a problem with getting access to NIPS technology.

That’s when we realised that we needed to develop something that we could send in the mail and that could be shipped in a box, in a cheaper and a lot more accessible way. We needed to meet women where they are.

Katie Sagaser: From my experience as a genetic counsellor, I was able to see the ways in which a new type of test is introduced, especially in the genetic testing world.

There’s a lot of ‘healthy fear’ at first, but sometimes that ends up paralysing patients in a way that if we, as folks in industry, don’t equip them with the right resources, it prevents them from being able to utilise technology that can be extremely empowering, in this case, for their pregnancy.

NIPS is not novel anymore. Yet, there are still OB-GYN providers out there who are reticent to incorporate it into their routine screening programmes for whatever reasons.

So one of the things that we have really wanted to do at Juno is work together with our providers, colleagues and partners, to try to equip them with the resources that they need to help their patients get the information that’s right for them and to ultimately, make an informed decision.

How does your approach help women access pre-natal screening tests at home?

KS: We’ve designed an extremely personalised approach because we really want to be meeting people right where they are.

At present, for the non-invasive prenatal screening test, there are two different pathways that people can follow.

They can either request the test themselves and a physician will review the order request and approve it, or their provider can order the test for them.

Once the order is placed, the patient is prompted to set up a Zoom call for a sample collection. This is going to be the same whether they’re doing the non-invasive prenatal screening test or the foetal gender test.

After the actual sample collection, patients are equipped with everything they need to return the kits. They just have to send them to the lab.

After we analyse the sample, they can access their results in their myJuno account.

What’s really unique is that our platform keeps them informed every step of the way, similar to how they might be used to tracking an order.

ME: We always wanted to empower women and encourage them to do things at their own pace. They have all the information they need on the platform and if something isn’t clear, they can get in touch with a genetic counsellor at any time of the process.

However, the platform is not a replacement for their OB-GYN provider. It’s something that’s intended to complement those services and make everybody’s life easier.

A lot of people were introduced to at-home testing during the pandemic. Do you think Covid has changed the way people view digital health?

KS: I think that prior to 2020, especially in the genetic counselling space, the whole concept of telemedicine was still intriguing. Covid has definitely changed that.

However, I think there are still challenges in the United States pertaining to our maternal health crisis and our OB-GYN access that telehealth on its own is not going to instantly fix.

ME: I think the pandemic did bring about a pretty big shift in the minds of the providers and they started to become more open to things like telehealth and taking care of patients remotely.

You’ve launched three products in 2022. What feedback have you received so far?

KS: The feedback has been exceptionally positive. I have been helping out with some of the Zoom calls on the collection side and people really appreciate the kind of support that we offer.

First of all, they like the fact that they’re talking with a real person in real time, but they also like that when they have questions, they don’t feel like a burden, and they can seek help and express their concerns.

Currently, the tests are only available in the US. Are you considering expanding your services globally?

ME: We’re extremely proud of all the work that we did in 2022. Yes, as we continue to grow, we’re considering expanding beyond the US when the time is right and in a way that is most appropriate.

It’s not Europe! I think Europe will be on our list at some point as well, but it is a little bit more difficult since most European countries have very particular healthcare systems to navigate. We promise it’s something exciting, though!

For more info, visit junodx.com.

Pregnancy

Women with multiple health conditions face higher pregnancy risks, study shows

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Women entering pregnancy with multiple long-term health conditions face higher risks of miscarriage and other complications, a UK study found.

Those with two or more pre-existing physical or mental health conditions had a 20 per cent higher risk of miscarriage than women with no long-term conditions.

They also had more than twice the risk of venous thromboembolism and around four times the risk of antenatal anxiety and depression.

The UK-wide research team analysed 2,225,701 pregnancies and birth events recorded between 2000 and 2022 across five datasets covering England, Scotland, Wales and Northern Ireland.

Women with multiple long-term conditions had a 69 per cent higher risk of nausea and vomiting during pregnancy and a 42 per cent higher risk of pre-eclampsia.

The women also had a 32 per cent higher risk of placental abruption and a 26 per cent higher risk of gestational diabetes.

Risks rose as the number of existing conditions increased.

Among women with three or more long-term conditions, the risk of venous thromboembolism was more than three-and-a-half times that of women with no long-term conditions.

Researchers said the findings had implications for maternity services, where care pathways are largely centred on individual conditions and may not adequately meet the needs of women with multiple long-term conditions.

Dr Kelly-Ann Eastwood, joint senior author and honorary lecturer at Queen’s University Belfast and consultant obstetrician at St Michael’s Hospital, Bristol NHS Foundation Trust, said the results “help define” the urgent clinical challenges facing women entering pregnancy with multiple long-term conditions and the clinicians caring for them across the UK.

“These findings highlight the pressing need to restructure existing maternity services to improve antenatal outcomes,” she added.

The authors cautioned that the study was observational and relied on routinely collected health records, meaning some conditions and outcomes may have been under-recorded, while residual confounding could not be excluded.

The researchers plan to examine birth and child outcomes and identify which combinations of long-term conditions carry the greatest risk.

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Pregnancy

Ultrasound Direct extends Trice Imaging partnership

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Ultrasound Direct has extended its Trice Imaging partnership for three years, adding a reporting tool across its 70-clinic UK network.

The private ultrasound provider will continue using the Tricefy platform for secure image storage and patient engagement, alongside TriceIQ for efficiency and productivity analytics.

It will also introduce Trice Workspace Reporting across its network. The companies say the tool will help standardise ultrasound reporting templates and workflows and reduce variation between clinics.

Ultrasound Direct carries out an estimated 120,000 patient scans each year across services including pregnancy, fertility, women’s health, men’s health and other diagnostic pathways.

Its network uses a large pool of sonographers working across different ultrasound systems and serves referral routes including self-referring patients, GPs and commercial partners.

Mike Steward, founding director at Ultrasound Direct, said: “Having worked with Trice Imaging since 2018, we first partnered to replace manual methods of providing scan images to expectant parents with Trice’s secure electronic image-sharing platform. Today, every study performed across the Ultrasound Direct Network is recorded and stored on Tricefy, while our clinical services have expanded considerably beyond pregnancy into fertility, women’s health, men’s health and other diagnostic pathways.”

He added: “To continue futureproofing our image management strategy across a network of 70 clinics, a large team of sonographers, varying ultrasound systems and a growing number of referral partners with different needs, we decided to extend with Trice Imaging. This includes the introduction of the new Trice Workspace Reporting module to help us scale and standardise our ultrasound reporting templates and workflow, reducing variability between clinics.”

The partnership began in 2018, initially focusing on replacing manual methods of sharing pregnancy scan images with expectant parents.

Johanna Wollert Melin, founder and chief executive of Trice Imaging Europe, said: “Ultrasound Direct has been a valued partner in the UK for 8 years.”

She added: “At the heart of the relationship is a willingness to explore new ideas, test new tools and the spirit to solve real challenges across a large and complex clinical network.”

Mark A. Samii, chief revenue officer at Trice Imaging, said: “We are delighted to retain and extend our relationship with Ultrasound Direct.”

He added: “The addition of Trice Workspace Reporting addresses a challenge we hear from multi-site providers globally – keeping reporting quality consistent across many users, systems, referral or payer relationships.”

Steward said Ultrasound Direct continues to see growing demand for private diagnostics alongside NHS care from self-referring patients and an increasingly diverse range of professional and commercial referral partners.

He added: “As that development continues, scalable digital infrastructure becomes increasingly important. Our focus is on ensuring that a growing national network can support consistent clinical workflows, different referral pathways and the technology requirements of the future, while continuing to provide patients with accessible diagnostic services.”

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Fertility

Paracetamol use may impact future fertility, studies suggest

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Paracetamol use in pregnancy was not linked to autism or ADHD, while separate research found reproductive differences in girls exposed before birth.

One study analysed health records from more than 120,000 children and found no increased risk of autism following prenatal paracetamol exposure.

A separate analysis of nearly 100,000 children also found no increased risk of ADHD among those born to mothers who used the painkiller during pregnancy.

Researchers from the Hong Kong Hospital Authority examined electronic health records covering pregnancies between January 2001 and December 2023.

The autism analysis included 124,333 children, who were nine years old on average and split almost evenly between males and females. There were 3,445 autism diagnoses, representing 2.8 per cent of the group.

The ADHD analysis involved 97,285 children, who were seven years old on average and also split evenly between males and females. There were 5,168 ADHD diagnoses, representing 5.3 per cent.

Women prescribed paracetamol during pregnancy were more likely to be older and have pre-existing conditions including psychiatric disorders, as well as reasons for taking the drug such as infection, fever or chronic pain.

No association was found between prenatal paracetamol exposure and either autism or ADHD.

The findings did not differ according to the trimester in which paracetamol was taken or whether use was intermittent or daily. Advanced maternal age, defined as pregnancy in women over 35, did not alter the findings.

The researchers wrote: “Paracetamol remains a safe and essential analgesic [pain reliever] and antipyretic [fever reducer] during pregnancy, whereas alternatives, such as NSAIDs and opioids carry well-documented risks.

“Unwarranted reluctance to use paracetamol could lead to undertreatment of pain and fever, or the use of more harmful alternatives, both posing risks to the pregnancy and developing fetus.”

The authors said women should assess paracetamol use with guidance from their doctor.

A separate study involving 685 pregnant women without pre-existing conditions and 302 infant daughters found associations between prenatal paracetamol exposure and differences in reproductive organs and hormone levels.

Researchers from Copenhagen University Hospital enrolled the women during their first trimester and assessed them during the first trimester, third trimester and again when their babies were three months old.

At around three months, infants experience a temporary rise in reproductive hormones sometimes called mini-puberty.

Pregnant participants completed questionnaires every two weeks about their use of pain medicines including paracetamol. Infant girls underwent ultrasound scans of their reproductive organs and blood tests to measure hormone levels.

Researchers also examined a separate group of 1,210 girls followed from infancy to adolescence whose mothers reported paracetamol use during the third trimester.

Three-month-old girls exposed to paracetamol before birth had an average 40 per cent smaller ovarian volume, 13 per cent smaller uterine volume and 23 per cent fewer ovarian follicles.

Girls exposed during the first trimester also had lower levels of Anti-Müllerian hormone, a marker of ovarian function.

Among the older girls, those exposed before birth were more likely to have smaller uteruses at puberty and smaller ovaries during their teenage years.

Dr Margit Bistrup Fischer, lead study author and postdoctoral researcher in the Department of Growth and Reproduction at Rigshospitalet hospital in Denmark, said: “Animal studies have demonstrated that impaired formation of ovarian follicles can lead to reduced fertility and earlier reproductive aging.

“Whether the differences observed in our study have implications for fertility and age at menopause in humans remains unknown and will require long-term follow-up of the girls in our cohort.”

She cautioned that women who had used paracetamol during pregnancy “should not be alarmed by our findings”, as the study found associations rather than direct causation and outcomes for individual women and children are unclear.

“Importantly, our study does not evaluate whether [acetaminophen] causes reproductive problems, nor does it provide evidence that prenatal exposure affects future fertility or age at menopause,” she said.

“Although we observed similar associations in an independent cohort, long-term follow-up is needed to determine whether these early-life differences have any clinical significance later in life.”

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