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Newborn screenings, radiation-proof tardigrades, IV shortage update

October 25, 2024
britt-tran-avatar-teal
Health Tech Reporter

Fun fact: My Ph.D. dissertation was about destroying toxic "forever chemicals," aka PFAS. This mostly means I am cursed with knowing too much about where these chemicals are used. 

I may have gotten a lot of PFAS exposure recently from both the "greaseproofed" paper wrapping my delicious unlimited breadsticks at trip to iconic fast-food pasta chain Fazoli's, and from the dust I inhaled while shaving my maybe-Scotchgarded couch (definitely a normal activity for when one acquires a slightly too vintage sofa). 

The more you know…

research

A new way to test babies for diseases that current screening methods don't catch

Newborn babies are routinely screened for dozens of conditions, which doctors catch by testing a spot of blood taken from a heel-prick. But researchers around the world are testing a strategy that could catch conditions missed by current tests: sequencing babies' whole genomes. On Thursday, a team of researchers reported initial results in the Journal of the American Medical Association supporting this approach based on an ongoing study that intends to enroll and screen 100,000 babies in New York City.

Scientists tested whether newborns had any of 156 treatable early-onset genetic conditions and, if parents consented, 99 neurological conditions that cause seizures. They found that 3.7% of the first 4,000 newborns enrolled in the study, dubbed Guardian, had a positive test, and that the vast majority of these results were for conditions not included in current newborn screening. "It's not an incremental advance. It's really, to me, a big step up in terms of what we could do for children," said Wendy Chung, the study's senior author. 

Guardian is one of many screening studies underway across the world, with researchers in the U.K., Boston, and San Diego launching similar efforts. 

— Jonathan Wosen 


disability

When getting married could mean losing life-saving medical benefits 

When Chelsea Smith met Jason Martin, she knew right away that he was the one — so she fled the bar while he was paying and refused to get his phone number. 

That's because Smith has Ehlers-Danlos syndrome, a connective tissue disorder that causes chronic pain and makes her prone to injury and illness, and relies on Medicaid to cover her medications and treatments. She currently qualifies for Social Security Disability Insurance under the Disabled Adult Child (DAC) benefits. However, if Smith were to get married, the Social Security Administration would expect her spouse, or her spouse's health insurance, to pay for her care. But Smith, a graduate student, and Martin, a teacher, don't make enough to pay for that.

Watch the stories of two couples facing similar situations, and the law changes that may soon allow all disabled people to get married, in this mini-documentary from STAT contributors Varun Srikanth and Jean R. Zamora.


election corner

What do biotech execs think of the 2024 election?

Like a good Portillo's sandwich, yesterday's edition of DC Diagnosis was beefy! (Okay, I can't pretend that I've ever had the Portillo's Italian beef — my normal order is the Maxwell Street Polish because it's delicious.) But if you're not signed up for STAT's free health policy newsletter, now's the time to do so. They're even producing an extra-special bonus edition next week!

Today in election news, our First Opinion editor Torie Bosch has a roundup of essays from biotech and pharma executives. You can read Sandoz CEO Richard Saynor on global drug production and health care costs, Bayer Pharmaceuticals COO Sebastian Guth on bad policy ideas, Eli Lilly chief scientist Daniel M. Skovronsky on fallacies surrounding patents, drug discovery, and affordability, and Genentech executive Fritz Bittenbender on the danger of political soundbites.

Or you can read Torie's sampler platter and get a taste of them all.



wunderkinds

Being a patient can be a full-time job. This ICU nurse wants to make it easier 

mkyle_headshot_2021-2Courtesy Russ Campbell 

Anyone who's spent extended time in the health care system knows that keeping track of one's care is a lot of work. But how does all of the paperwork affect patient care and outcomes?

STAT Wunderkind Michael Anne Kyle saw some of these systemic inefficiencies when she was an ICU nurse. She spent five years working in community health organizations to help people enroll in programs such as Medicaid, then began studying health policy and management, eventually getting her Ph.D. from Harvard Business School.

Her research centers on how the administrative burden on patients affects their care, which can help inform fixes, but also makes people feel seen. Clinicians often run into these hurdles too, and fight to keep their patients out of it, but that's no way to run a health care system, she says.

"Having one person who cares is kind of the linchpin in a lot of this stuff," Kyle said. "It's great if you have that, but a system can't be set up on the basis of someone's good heart." Read more from STAT contributor Allessandra DiCorato, and check out the full list of 2024 Wunderkinds if you haven't already.


gummy bears

Why tardigrades are radiation-proof

Tardigrades — also known as "water bears" or "moss piglets" — are microscopic, eight-legged gummy-bear-like organisms that can survive extreme environments, including being dehydrated, the Antarctic, volcanoes, and outer space. They also have a resistance to radiation that's about 1,000 times higher than that of humans. But until now, it's been unclear why.

In a study published yesterday in Science, scientists combined genome, transcriptome, and proteome data (that's "multi-omics," for those of you who understand the jargon better than me) to look at what genes might be protecting tardigrades. They found several different effects. First, tardigrades may have borrowed a gene from bacteria that lets them produce betalains, a kind of pigment that's capable of scavenging free radicals (a cell-damaging result of radiation.)

The researchers also found a tardigrade-specific, radiation-induced protein that accelerates the repair of double-strand breaks in DNA, and two mitochondrial proteins that other organisms also have but that tardigrades produce in higher amounts in response to radiation, which also help speed up DNA repair. The results may provide inspiration for promoting human health and combating diseases, the authors wrote.


public health

The latest on IV shortages after Hurricane Helene

A few weeks ago, we told you about the shortage of IV supplies due to a plant in North Carolina — which supplied 60% of the nation's IV solutions — closing because of Hurricane Helene damage. Hospitals across the country declared their own shortages and canceled surgeries, giving less-critical patients Gatorade to drink in order to stretch supplies of saline.

Baxter, the company whose plant was shut down, has some good news to share: Its plant is back to pre-hurricane staffing levels, and production on its highest-throughput line will restart in the next week, with products starting to roll out in mid- to late-November, ahead of expectations.

The FDA has also temporarily authorized importing various products from Baxter facilities in Thailand and Singapore, in addition to seven other plants across the globe — Canada, two sites in China, Ireland, the UK, Mexico, and Spain.


More around STAT
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What we're reading

  •  Eli Lilly weight loss drug shortage underscores deeper issues with FDA oversight, STAT
  • Google, Microsoft, and Perplexity are promoting scientific racism in search results, WIRED 

  • Louisiana's creative new ways to fight maternal mortality, STAT

  • The dilemma at the heart of McDonald's E. coli outbreak, The Atlantic

  • A radio host lost her words. Brain surgery put her back on the air, New York Times
  •  UnitedHealth was top insurer collecting billions in questionable Medicare payments, federal watchdog finds, STAT

Thanks for reading! More on Monday — Brittany


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