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Genetics Studies Have a Diversity Problem That Researchers Struggle To Fix

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Lauren Sausser
Thu, 25 Apr 2024 09:00:00 +0000

CHARLESTON, S.C. — When he recently walked into the dental clinic at the Medical University of South Carolina donning a bright-blue pullover with “In Our DNA SC” embroidered prominently on the front, Lee Moultrie said, two Black women stopped him to ask questions.

“It's a walking billboard,” said Moultrie, a care advocate who serves on the community advisory board for In Our DNA SC, a study underway at the university that aims to enroll 100,000 South Carolinians — including a representative percentage of Black people — in genetics research. The goal is to better understand how genes affect health risks such as cancer and heart disease.

Moultrie, who is Black and has participated in the research project himself, used the opportunity at the dental clinic to encourage the women to sign up and contribute their DNA. He keeps brochures about the study in his car and at the barbershop he visits weekly for this reason. It's one way he wants to help solve a problem that has plagued the field of genetics research for decades: The data is based mostly on DNA from white people.

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Project leaders in Charleston told KFF Health News in 2022 that they hoped to enroll participants who reflect the demographic diversity of South Carolina, where just under 27% of identify as Black or African American. To date, though, they've failed to hit that mark. Only about 12% of the project's participants who provided sociodemographic data identify as Black, while an additional 5% have identified as belonging to another racial minority group.

“We'd like to be a lot more diverse,” acknowledged Daniel Judge, principal investigator for the study and a cardiovascular genetics specialist at the Medical University of South Carolina.

Lack of diversity in genetics research has real implications. Since the completion more than 20 years ago of the Human Genome Project, which mapped most human genes for the first time, close to 90% of genomics studies have been conducted using DNA from participants of European descent, research shows. And while human beings of all races and ancestries are more than 99% genetically identical, even small differences in genes can spell big differences in health outcomes.

“Precision medicine” is a term used to describe how genetics can improve the way diseases are diagnosed and treated by considering a person's DNA, environment, and lifestyle. But if this emerging field of health care is based on research involving mostly white people, “it could to mistakes, unknowingly,” said Misa Graff, an associate professor in epidemiology at the University of North Carolina and a genetics researcher.

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In fact, that's already happening. In 2016, for example, research found that some Black patients had been misdiagnosed with a potentially fatal heart condition because they'd tested positive for a genetic variant thought to be harmful. That variant is much more common among Black Americans than white Americans, the research found, and is considered likely harmless among Black people. Misclassifications can be avoided if “even modest numbers of people from diverse populations are included in sequence databases,” the authors wrote.

The genetics research project in Charleston requires participants to complete an online consent form and submit a saliva sample, either in person at a designated lab or collection event or by mail. They are not paid to participate, but they do receive a outlining their DNA results. Those who test positive for a genetic marker linked to cancer or high cholesterol are offered a virtual appointment with a genetics counselor of charge.

Some research projects require more time from their volunteers, which can skew the pool of participants, Graff said, because not everyone has the luxury of free time. “We need to be even more creative in how we obtain people to help contribute to studies,” she said.

Moultrie said he recently asked project leaders to reach out to African American media outlets throughout the Palmetto to explain how the genetics research project works and to encourage Black people to participate. He also suggested that when researchers talk to Black community leaders, such as church pastors, they ought to persuade those leaders to enroll in the study instead of simply passing the message along to their congregations.

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“We have new ideas. We have ways we can do this,” Moultrie said. “We'll get there.”

Other ongoing efforts are already improving diversity in genetics research. At the National Institutes of Health, a program called “All of Us” aims to analyze the DNA of more than 1 million people across the country to build a diverse health database. So far, that program has enrolled more than 790,000 participants. Of these, more than 560,000 have provided DNA samples and about 45% identify as being part of a racial or ethnic minority group.

“Diversity is so important,” said Karriem Watson, chief engagement officer for the All of Us research program. “When you think about groups that carry the greatest burden of disease, we know that those groups are often from minoritized populations.”

Diverse participation in All of Us hasn't come about by . NIH researchers strategically partnered with community health centers, faith-based groups, and Black fraternities and sororities to recruit people who have been historically underrepresented in biomedical research.

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In South Carolina, for example, the NIH works with Cooperative Health, a network of federally qualified health centers near the state capital that serve many patients who are uninsured and Black, to recruit patients for All of Us. Eric Schlueter, chief medical officer of Cooperative Health, said the partnership works because their patients trust them.

“We have a strong history of being integrated into the community. Many of our employees grew up and still in the same communities that we serve,” Schlueter said. “That is what is part of our secret sauce.”

So far, Cooperative Health has enrolled almost 3,000 people in the research program, about 70% of whom are Black.

“Our patients are just like other patients,” Schlueter said. “They want to be able to provide an opportunity for their children and their children's children to have better health, and they realize this is an opportunity to do that.”

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Theoretically, researchers at the NIH and the Medical University of South Carolina may be trying to recruit some of the same people for their separate genetics studies, although nothing would prevent a patient from participating in both efforts.

The researchers in Charleston acknowledge they still have work to do. To date, In Our DNA SC has recruited about half of the 100,000 people it hopes for, and of those, about three-quarters have submitted DNA samples.

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Caitlin Allen, a program investigator and a public health researcher at the medical university, acknowledged that some of the program's tactics haven't succeeded in recruiting many Black participants.

For example, some patients scheduled to see providers at the Medical University of South Carolina receive an electronic message through their patient portal before an appointment, which includes information about participating in the research project. But studies show that racial and ethnic minorities are less likely to engage with their electronic health records than white patients, Allen said.

“We see low uptake” with that strategy, she said, because many of the people researchers are trying to engage likely aren't receiving the message.

The study involves four research coordinators trained to take DNA samples, but there's a limit to how many people they can talk to face-to-face. “We're not necessarily able to go into every single room,” Allen said.

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That said, in-person community seem to work well for enrolling diverse participants. In March, In Our DNA SC research coordinators collected more than 30 DNA samples at a bicentennial event in Orangeburg, South Carolina, where more than 60% of residents identify as Black. Between the first and second year of the research project, Allen said, In Our DNA SC doubled the number of these community events that research coordinators attended.

“I would love to see it ramp up even more,” she said.

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By: Lauren Sausser
Title: Genetics Studies Have a Diversity Problem That Researchers Struggle To Fix
Sourced From: kffhealthnews.org/news/article/genetics-research-diversity-conundrum-black-participation-south-carolina/
Published Date: Thu, 25 Apr 2024 09:00:00 +0000

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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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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 children.” 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 readers 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 University 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 .

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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 development.

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 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 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//article/baby-product-instruction-manuals-confusing-technical-writing/
Published Date: Fri, 03 May 2024 09:00:00 +0000

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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 , 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 insurance, Pantoja Toribio couldn't afford to find out if she had a serious .

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 Medicaid 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 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 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 economy 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 organizations 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 run 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 health care 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 University 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//article/california-legislation-medicaid-subsidies-all-adult-immigrants/
Published Date: Fri, 03 May 2024 09:00:00 +0000

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