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Quick Genetic Test Offers Hope for Sick, Undiagnosed Kids. But Few Insurers Offer to Pay.

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Phil Galewitz, KFF Health
Mon, 23 Oct 2023 09:00:00 +0000

Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.

Two weeks later, she had another emergency surgery, and then developed meningitis. Layla spent more than a month in neonatal intensive care in three hospitals as searched for the cause of her illness.

Her parents enrolled her in a clinical trial to check for a genetic . Unlike genetic tests focused on a few disease-causing variants that can take months to produce results, the study at Seattle 's Hospital would sequence Layla's entire genome, looking for a broad range of abnormalities — and potentially offer answers in under a .

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The test found Layla had a rare genetic disorder that caused gastrointestinal defects and compromised her immune system. The findings led doctors to isolate her, give her weekly infusions of antibiotics, and contact other hospitals that had treated the same condition, said her father, Dmitry Babayev.

, Babayev credits the test, known as rapid whole-genome sequencing, for saving his daughter's . “It is why we believe Layla is still with us today,” he said.

Like her disorder, Layla's experience is rare.

Few hospitalized babies with an undiagnosed illness undergo whole-genome sequencing — a diagnostic tool that allows scientists to quickly identify genetic disorders and guide clinicians' treatment decisions by analyzing a patient's complete DNA makeup. That's largely because many private and public health insurers won't cover the $4,000-to-$8,000 expense.

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But an alliance of genetic testing companies, drugmakers, children's hospitals, and doctors have lobbied statesto increase coverage under Medicaid — and their efforts have begun to pay off.

Since 2021, eight Medicaid programs have added rapid whole-genome sequencing to their coverage or will soon cover it, according to GeneDX, a provider of the test. That includes Florida, where the Republican-controlled has resisted expanding Medicaid under the Affordable Care Act.

The test is also under consideration for coverage in Georgia, Massachusetts, New York, and North Carolina, according to the nonprofit Rady Children's Institute for Genomic Medicine, another major provider of the test.

Medicaid coverage of the test can significantly expand access for infants; the state-federal program that insures low-income families covers more than 40% of children in their first year of life.

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“This is an extraordinary, powerful test that can change the trajectory of these children's diseases and our own understanding,” said Jill Maron, chief of pediatrics at Women & Infants Hospital in Providence, Rhode Island, who has conducted research on the test.

“The only thing interfering with more widespread use is insurance payment,” she said.

Proponents of whole-genome sequencing, which has been commercially available for about six years, say it can help sick infants with potentially rare diseases avoid a months- or years-long odyssey of tests and hospitalizations without a clear diagnosis — and increase survival.

They also point to studies showing rapid whole-genome testing may lower overall health costs by reducing unnecessary hospitalizations, testing, and care.

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But the test may have its limits. While it is better at identifying rare disorders than older genetic tests, whole-genome sequencing detects a mutation only about half of the time — whether because the test misses something or the patient does not have a genetic disorder at all.

And the test raises ethical questions because it can also reveal that babies — and their parents — have genes that put them at increased risk for adult-onset conditions such as breast and ovarian cancer.

Even so, some doctors say sequencing offers the best chance to make a diagnosis when more routine testing doesn't an answer. Pankaj Agrawal, chief of neonatology at the University of Miami Miller School of Medicine, said only about 10% of babies who could benefit from whole-genome sequencing are getting it.

“It is super frustrating to have sick babies and with no explanation what is causing their symptoms,” he said.

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Some private insurers now cover the test with certain limitations, including UnitedHealthcare and Cigna, but others do not.

Even in states that have adopted the test, coverage varies. Florida will add the benefit to Medicaid later this year for patients up to age 20 who are in hospital intensive care units.

Florida state Rep. Adam Anderson, a Republican whose 4-year-old son died in 2019 after being diagnosed with Tay-Sachs disease, a rare genetic disorder, led the push for Medicaid to cover sequencing. The new state Medicaid benefit is named for his son, Andrew.

Anderson said persuading his GOP colleagues was challenging, given they typically oppose any increase in Medicaid spending.

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“As soon as they heard the term ‘Medicaid mandate,' they shut down,” he said. “As a state, we are fiscally conservative, and our Medicaid program is already a huge program as it is, and we want to see Medicaid smaller.”

Anderson said it took doctors more than a year to diagnose his son — an emotionally difficult time for the family as Andrew endured numerous tests and trips to specialists in several states.

“I know what it's like to not get those answers as doctors try to figure out what is wrong, and without genetic testing it's almost impossible,” he said.

A Florida House analysis estimated that if 5% of babies in the state's neonatal intensive care units got the test each year, it would cost the Medicaid program about $3.3 million annually.

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Florida's legislative leaders were persuaded in part by a 2020 study called Project Baby Manatee, in which Nicklaus Children's Hospital in Miami sequenced the genomes of 50 patients. As a result, 20 patients — about 40% — received a diagnosis, leading to changes in care for 19 of them.

The estimated savings exceeded $3.7 million — a nearly $2.9 million return on investment, after the cost of the tests, according to the final report.

“We have shown that we can justify this as a good investment,” said Parul Jayakar, director of the hospital's Division of Clinical Genetics and Metabolism, who worked on the study.

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By: Phil Galewitz, KFF Health News
Title: Quick Genetic Test Offers Hope for Sick, Undiagnosed Kids. But Few Insurers Offer to Pay.
Sourced From: kffhealthnews.org/news/article/quick-genetic-test-offers-hope-for-sick-undiagnosed-kids-but-few-insurers-offer-to-pay/
Published Date: Mon, 23 Oct 2023 09:00:00 +0000

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Kaiser Health News

Journalists Delve Into Climate Change, Medicaid ‘Unwinding,’ and the Gap in Mortality Rates

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Sat, 04 May 2024 09:00:00 +0000

KFF senior correspondent Samantha Young discussed and climate change on KCBS Radio's “On-Demand” on April 29.

KFF Health News contributor Andy Miller discussed Medicaid unwinding on WUGA's “The Georgia Health ” on April 26.

KFF Health News Nevada correspondent Jazmin Orozco Rodriguez discussed mortality rates in rural America on The Yonder's “The Yonder Report” on April 24.

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Title: Journalists Delve Into Climate Change, Medicaid ‘Unwinding,' and the Gap in Mortality Rates
Sourced From: kffhealthnews.org/news/article/journalists-delve-into-climate-change-medicaid-unwinding-and-the-gap-in-mortality-rates/
Published Date: Sat, 04 May 2024 09:00:00 +0000

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Kaiser Health News

Oh, Dear! Baby Gear! Why Are the Manuals So Unclear?

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Darius Tahir
Fri, 03 May 2024 09:00:00 +0000

Since becoming a father a few months ago, I've been nursing a grudge against something tiny, seemingly inconsequential, and often discarded: instructional manuals. Parenthood requires a lot of gadgetry to maintain a kid's health and welfare. Those gadgets require puzzling over booklets, decoding inscrutable pictographs, and wondering whether warnings can be safely ignored or are actually disclosing a hazard.

To give an example, my daughter, typically a cooing little marsupial, quickly discovered babyhood's superpower: Infants emerge from the womb with talon-strength fingernails. She wasn't afraid to use them, against either her parents or herself. So we purchased a pistachio-green, hand-held mani-pedi device.

That was the easy part. The difficulty came when we consulted the manual, a palm-sized, two-page document.

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The wandlike tool is topped with a whirring disc. One can apparently adjust the speed of its rotation using a sliding toggle on the wand. But the product manual offered confusing advice: “Please do not use round center position grinding,” it said. Instead, “Please use the outer circle position to grinding.” It also proclaimed, “Stay away from .” In finer print, the manual revealed the potential combination of kids and the device's smaller parts was the reason for concern.

One would hope for more clarity about a doodad that could inadvertently cause pain.

Later, I noticed another warning: “If you do not use this product for a long time, please remove the battery.” Was it dangerous? Or simply an unclear and unhelpful yet innocuous heads-up? We didn't know what to do with this information.

We now notice shoddy instructions everywhere.

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One baby carrier insert told us to use the product for infants with “adequate” head, neck, and torso control — a vague phrase. (The manufacturer declined to comment.)

Another manual, this one online and for a car seat — a device that's supposed to protect your kid — informed with words and images that a model baby was “properly positioned” relative to the top of the headrest “structure” when more than one inch from the top. Just pixels away, the same model, slumped further down, was deemed improperly positioned: “The headrest should not be more than 1” from the top of her head,” it said, in tension with its earlier instructions. Which was it, more than one inch or not? So we fiddle and hope for the best.

I acknowledge this sounds like new-parent paranoia. But we're not entirely crazy: Manuals are important, and ones for baby products “are notoriously difficult to write,” Paul Ballard, the managing director of 3di Information , a technical writing firm, told me.

Deborah Girasek, a professor of social and behavior sciences at the Uniformed Services of the Health Sciences, told me that for decades, for the young and middle-aged alike, unintentional injury has been the leading cause of . That's drownings, fires, suffocation, car crashes. The USU is a federal service academy training medical students destined for the armed services or other parts of the government.

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Some of these deaths are caused by lack of effective communication — that is, the failure of instruction about how to avoid injury.

And these problems stretch from cheap devices to the most sophisticated products of research and .

It's a shortcoming that's prompted several regulatory agencies charged with keeping Americans healthy, including the Consumer Product Safety Commission, the Food and Drug Administration, and the National Highway Traffic Safety Administration, to prod companies into providing more helpful instructions.

By some lights, they've had success. NHTSA, for example, has employees who actually read manuals. The agency says about three-quarters of car seats' manuals rate four or five out of five, up from 38% in 2008. Then again, our car seat's has a five-star rating. But it turns out the agency doesn't evaluate online material.

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Medical product manuals sometimes don't fare too well either. Raj Ratwani, director of MedStar Health's Human Factors program, told me that, for a class he teaches to nurses and , he prompted students to evaluate the instructions for tests. The results were poor. One time, instructions detailed two swabs. The kit had only one.

Technical writers I spoke with identified this kind of mistake as a symptom of cost cutting. Maybe a company creates one manual meant to cover a range of products. Maybe it puts together the manual at the last moment. Maybe it farms out the task to marketers, who don't necessarily think about how manuals need to evolve as the products do.

For some of these cost-cutting tactics, “the motivation for doing it can be cynical,” Ballard said.

Who knows.

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Some corners of the technical writing world are gloomy. People worry their jobs aren't secure, that they're going to be replaced by someone overseas or artificial intelligence. Indeed, multiple people I spoke with said they'd heard about generative AI experiments in this area.

Even before AI has had its effect, the job market has weighed in. According to the federal government, the number of technical writers fell by a third from 2001, its recent peak, to 2023.

One solution for people like us — frustrated by inscrutable instructions — is to turn to another uncharted world: social media. YouTube, for instance, has helped us figure out a lot of the baby gadgets we have acquired. But those videos also are part of a wild , where creators offer helpful tips on baby products then refer us to their other productions (read: ads) touting things like weight loss services. Everyone's got to make a living, of course; but I'd rather they not make a buck off viewers' postpartum anxiety.

It reminds me of an old insight that became a digital-age cliché: Information wants to be free. Everyone forgets the second half: Information also wants to be expensive. It's cheap to share information once produced, but producing that information is costly — and a process that can't easily or cheaply be replaced. Someone must pay. Instruction manuals are just another example.

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By: Darius Tahir
Title: Oh, Dear! Baby Gear! Why Are the Manuals So Unclear?
Sourced From: kffhealthnews.org/news/article/baby-product-instruction-manuals-confusing-technical-writing/
Published Date: Fri, 03 May 2024 09:00:00 +0000

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Kaiser Health News

California Floats Extending Health Insurance Subsidies to All Adult Immigrants

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Jasmine Aguilera, El Tímpano
Fri, 03 May 2024 09:00:00 +0000

Marisol Pantoja Toribio found a lump in her breast in early January. Uninsured and living in California without legal status and without her family, the usually happy-go-lucky 43-year-old quickly realized how limited her options were.

“I said, ‘What am I going to do?'” she said in Spanish, quickly getting emotional. She immediately worried she might have cancer. “I went back and forth — I have [cancer], I don't have it, I have it, I don't have it.” And if she was sick, she added, she wouldn't be able to work or pay her rent. Without health insurance, Pantoja Toribio couldn't afford to find out if she had a serious condition.

Beginning this year, Medi-Cal, California's Medicaid program, expanded to include immigrants lacking legal residency, timing that could have worked out perfectly for Pantoja Toribio, who has lived in the Bay Area city of Brentwood for three years. But her application for Medi-Cal was quickly rejected: As a farmworker earning $16 an hour, her annual income of roughly $24,000 was too high to qualify for the program.

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California is the first state to expand to all qualifying adults regardless of immigration status, a move celebrated by health advocates and political across the state. But many immigrants without permanent legal status, especially those who live in parts of California where the cost of living is highest, earn slightly too much money to qualify for Medi-Cal.

The state is footing the bill for the Medi-Cal expansion, but federal law bars those it calls “undocumented” from receiving insurance subsidies or other benefits from the Affordable Care Act, leaving many employed but without viable health insurance options.

Now, the same health advocates who fought for the Medi-Cal expansion say the next step in achieving health equity is expanding Covered California, the state's ACA marketplace, to all immigrant adults by passing AB 4.

“There are people in this state who work and are the backbone of so many sectors of our and contribute their labor and even taxes … but they are locked out of our social safety net,” said Sarah Dar, policy director at the California Immigrant Policy Center, one of two sponsoring the bill, dubbed #Health4All.

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To qualify for Medi-Cal, an individual cannot earn more than 138% of the federal poverty level, which currently amounts to nearly $21,000 a year for a single person. A family of three would need to earn less than $35,632 a year.

For people above those thresholds, the Covered California marketplace offers various health plans, often with federal and state subsidies, yielding premiums as low as $10 a month. The hope is to create what advocates call a “mirror marketplace” on the Covered California website so that immigrants regardless of status can be offered the same health plans that would be subsidized only by the state.

Despite a Democratic supermajority in the legislature, the bill might struggle to pass, with the state facing a projected budget deficit for next year of anywhere from $38 to $73 billion. Gov. Gavin Newsom and legislative leaders announced a $17 billion package to start reducing the gap, but significant spending cuts appear inevitable.

It's not clear how much it would cost to extend Covered California to all immigrants, according to Assembly member Joaquin Arambula, the Fresno Democrat who introduced the bill.

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The immigrant policy center estimates that setting up the marketplace would cost at least $15 million. If the bill passes, sponsors would then need to secure for the subsidies, which could into the billions of dollars annually.

“It is a tough time to be asking for new expenditures,” Dar said. “The mirror marketplace startup cost is a relatively very low number. So we're hopeful that it's still within the realm of possibility.”

Arambula said he's optimistic the state will continue to in improving access to for immigrants who lack legal residency.

“I believe we will continue to stand up, as we are working to make this a California for all,” he said.

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The bill passed the Assembly last July on a 64-9 vote and now awaits action by the Senate Appropriations Committee, Arambula's office said.

An estimated 520,000 people in California would qualify for a Covered California plan if not for their lack of legal status, according to the labor research center at the of California-Berkeley. Pantoja Toribio, who emigrated alone from Mexico after leaving an abusive relationship, said she was lucky. She learned about alternative health care options when she made her weekly visit to a food pantry at Hijas del Campo, a Contra Costa County farmworker advocacy organization, where they told her she might qualify for a plan for low-income people through Kaiser Permanente.

Pantoja Toribio applied just before open enrollment closed at the end of January. Through the plan, she learned that the lump in her breast was not cancerous.

“God heard me,” she said. “Thank God.”

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This article was produced by KFF Health News, which publishes California Healthline, an editorially independent service of the California Health Care Foundation. 

——————————
By: Jasmine Aguilera, El Tímpano
Title: California Floats Extending Health Insurance Subsidies to All Adult Immigrants
Sourced From: kffhealthnews.org/news/article/california-legislation-medicaid-subsidies-all-adult-immigrants/
Published Date: Fri, 03 May 2024 09:00:00 +0000

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