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STAT Morning Rounds: Whole Genome Screening of Newborns

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STAT Morning Rounds: Whole Genome Screening of Newborns

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Fun fact: my Ph.D. thesis was about destroying toxic ‘forever chemicals’, also called PFAS. This mainly means that I am cursed with knowing too much about where these chemicals are used.

I may have been exposed to a lot of PFAS lately, both from the “wax” paper my delicious all-you-can-eat breadsticks were wrapped in during a trip to the iconic fast-food pasta chain Fazoli’s, and from the dust I inhaled while shaving my perhaps Scotchgarded couch (absolutely a normal activity if you purchase a slightly too vintage sofa).

The more you know…

A new way to test babies for diseases that are not detected with current screening methods

Newborn babies are routinely screened for dozens of conditions, which doctors can detect by testing a blood spot from a heel prick. But researchers around the world are testing a strategy that could detect conditions missed by current tests: sequencing the entire genome of babies. a team of researchers on Thursday reported Early results in the Journal of the American Medical Association support this approach, based on an ongoing study that aims to enroll and screen 100,000 babies in New York City.

Scientists tested whether newborns had one 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, called Guardian, tested positive, and that the vast majority of these results were for conditions not included in current newborn screening. “It’s not incremental progress. For me, it’s really a big step forward in terms of what we can do for children,” said Wendy Chung, senior author of the study.

Guardian is one of several screening studies underway around the world, with researchers in Britain, Boston and San Diego launching similar efforts.

—Jonathan Wossen

Getting married could mean losing life-saving medical benefits

When Chelsea Smith met Jason Martin, she immediately knew 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 predisposes her to injuries and illnesses, and relies on Medicaid to cover her medications and treatments. She currently qualifies for Social Security disability insurance under the Disabled Adult Children (DAC) benefits. However, if Smith were to marry, her husband’s Social Security Administration, or her husband’s health insurance, would expect her 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 faced with similar situations, and the changes in the law that will soon allow all disabled people to get married, in this mini-documentary by STAT contributors Varun Srikanth and Jean R. Zamora.

What do biotech executives think about the 2024 election?

Like a good one Portillo’s sandwichyesterday’s edition of DC Diagnosis was solid! (Okay, I can’t pretend I’ve ever had the Portillo’s Italian Beef—my regular order is the Maxwell Street Polish because it’s delicious.) But if you’re not signed up for STAT’s free health policy newsletter, this is the time to do that. They’re even releasing 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 pharmaceutical executives. You can read Sandoz CEO Richard Saynor on global drug production and healthcare costs, Bayer Pharmaceuticals COO Sebastian Guth on bad policy ideas, Eli Lilly chief scientist Daniel M. Skovronsky on misconceptions surrounding patents, drug discovery and affordability, and Genentech CEO Fritz Bittenbender on the danger of political sound bites.

Or you can read Torie’s sampler platter and taste them all.

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

Anyone who has spent any length of time in healthcare knows that keeping up with healthcare is a lot of work. But how does all the paperwork impact patient care and outcomes?

STAT Wunderkind Michael Anne Kyle saw some of these systemic inefficiencies when she was an ICU nurse. She worked for five years at community health organizations helping people enroll in programs like Medicaid, then began studying health policy and management and eventually earned her doctorate. from Harvard Business School.

Her research focuses on how administrative burdens on patients affect their care, which can help find solutions but also make people feel seen. Doctors also often run into these hurdles and fight to keep their patients out, but that’s no way to run a health care system, she says.

“Having one person who cares about you is kind of the linchpin in a lot of these things,” Kyle said. “It’s nice if you have that, but you can’t set up a system based on someone’s good heart.” Read more from STAT contributor Allessandra DiCorato and view the complete list of Wonderkinds from 2024 if you haven’t already.

Why tardigrades are radiation resistant

Tardigrades – also known as ‘water bears’ or ‘moss piglets’ – are microscopic, eight-legged gummy bear-like organisms that can survive extreme environments, including desiccation, the Antarctic, volcanoes and space. They also have a resistance to radiation that is about a thousand times higher than that of humans. But until now it was unclear why.

In one study published yesterday in Sciencescientists combined genome, transcriptome, and proteomic data (that’s “multi-omics,” for those of you who understand the jargon better than I do) to see which genes might protect tardigrades. They found different effects. First, tardigrades may have borrowed a gene from bacteria that allows them to produce betalains, a type of pigment capable of scavenging free radicals (a cell-damaging consequence of radiation).

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

The latest on IV shortages after Hurricane Helene

A few weeks ago we told you about the shortage of IV supplies due to the closure of a plant in North Carolina – which supplied 60% of the country’s IV solutions – due to damage from Hurricane Helene. Hospitals across the country declared their own shortages and canceled surgeries, giving less critical patients Gatorade to drink to increase saline supplies.

Baxter, the company whose factory was closed, has good news: the factory is back to pre-hurricane workforces, and production on the highest throughput production line will restart in the coming week, with products shipping in the foreseeable future. rolled out. mid to late November, earlier than expected.

The FDA has also temporarily authorized the import of several products from Baxter factories in Thailand and Singapore, in addition to seven other factories around the world: Canada, two locations in China, Ireland, the UK, Mexico and Spain.

What we read

  • Eli Lilly shortage of weight loss drugs underlines deeper problems with FDA oversight, STAT
  • Google, Microsoft and Perplexity promote scientific racism in search results, WIRED

  • Louisiana’s Creative New Ways to Combat Maternal Mortality, STAT

  • The dilemma underlying the E. coli outbreak at McDonald’s The Atlantic Ocean

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

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