• Home
  • Politics
  • Health
  • World
  • Business
  • Finance
  • Tech
  • More
    • Sports
    • Entertainment
    • Lifestyle
What's Hot

How Smart Mattresses Improve Sleep Quality For Couples

May 9, 2025

OpenAI CEO Warns: ‘Not A Huge Amount Of Time’ Until China Overpowers American AI

May 9, 2025

Short and Funny Sayings for a Happy Summer with Friends

May 9, 2025
Facebook Twitter Instagram
  • Contact
  • Privacy Policy
  • Terms & Conditions
Friday, May 9
Patriot Now NewsPatriot Now News
  • Home
  • Politics

    Security video shows brazen sexual assault of California woman by homeless man

    October 24, 2023

    Woman makes disturbing discovery after her boyfriend chases away home intruder who stabbed him

    October 24, 2023

    Poll finds Americans overwhelmingly support Israel’s war on Hamas, but younger Americans defend Hamas

    October 24, 2023

    Off-duty pilot charged with 83 counts of attempted murder after allegedly trying to shut off engines midflight on Alaska Airlines

    October 23, 2023

    Leaked audio of Shelia Jackson Lee abusively cursing staffer

    October 22, 2023
  • Health

    Disparities In Cataract Care Are A Sorry Sight

    October 16, 2023

    Vaccine Stocks—Including Pfizer, Moderna, BioNTech And Novavax—Slide Amid Plummeting Demand

    October 16, 2023

    Long-term steroid use should be a last resort

    October 16, 2023

    Rite Aid Files For Bankruptcy With More ‘Underperforming Stores’ To Close

    October 16, 2023

    Who’s Still Dying From Complications Related To Covid-19?

    October 16, 2023
  • World

    New York Democrat Dan Goldman Accuses ‘Conservatives in the South’ of Holding Rallies with ‘Swastikas’

    October 13, 2023

    IDF Ret. Major General Describes Rushing to Save Son, Granddaughter During Hamas Invasion

    October 13, 2023

    Black Lives Matter Group Deletes Tweet Showing Support for Hamas 

    October 13, 2023

    AOC Denounces NYC Rally Cheering Hamas Terrorism: ‘Unacceptable’

    October 13, 2023

    L.A. Prosecutors Call Out Soros-Backed Gascón for Silence on Israel

    October 13, 2023
  • Business

    OpenAI CEO Warns: ‘Not A Huge Amount Of Time’ Until China Overpowers American AI

    May 9, 2025

    Trump Announces First Post-Tariff Trade Deal

    May 8, 2025

    Electric Vehicle Sales Nosedive As GOP Takes Buzzsaw To Biden’s Mandate

    May 7, 2025

    Tyson Foods Announces It Will Bend The Knee To Trump Admin’s New Rules

    May 7, 2025

    Federal Reserve Holds Interest Rates Steady Despite Pressure From Trump

    May 7, 2025
  • Finance

    Ending China’s De Minimis Exception Brings 3 Benefits for Americans

    April 17, 2025

    The Trump Tariff Shock Should Push Indonesia to Reform Its Economy

    April 17, 2025

    Tariff Talks an Opportunity to Reinvigorate the Japan-US Alliance

    April 17, 2025

    How China’s Companies Are Responding to the US Trade War

    April 16, 2025

    The US Flip-flop Over H20 Chip Restrictions 

    April 16, 2025
  • Tech

    Cruz Confronts Zuckerberg on Pointless Warning for Child Porn Searches

    February 2, 2024

    FTX Abandons Plans to Relaunch Crypto Exchange, Commits to Full Repayment of Customers and Creditors

    February 2, 2024

    Elon Musk Proposes Tesla Reincorporates in Texas After Delaware Judge Voids Pay Package

    February 2, 2024

    Tesla’s Elon Musk Tops Disney’s Bob Iger as Most Overrated Chief Executive

    February 2, 2024

    Mark Zuckerberg’s Wealth Grew $84 Billion in 2023 as Pedophiles Target Children on Facebook, Instagram

    February 2, 2024
  • More
    • Sports
    • Entertainment
    • Lifestyle
Patriot Now NewsPatriot Now News
Home»Health»“Whole genome” tests hold promise in saving infants’ lives
Health

“Whole genome” tests hold promise in saving infants’ lives

August 28, 2023No Comments5 Mins Read
Facebook Twitter Pinterest LinkedIn Tumblr Email
“Whole genome” tests hold promise in saving infants' lives
Share
Facebook Twitter LinkedIn Pinterest Email

CINCINNATI — Brynn Schulte nearly died twice when she was a baby, at one point needing emergency surgery for massive bleeding in her brain.

No one knew what was wrong until a test that looked at her full genetic blueprint found a rare bleeding disorder called factor XIII deficiency — an early diagnosis that saved her life.

“You have this hopeless feeling when you don’t really know what’s going on,” said her father, Mike Schulte. “Casting a wide net really made a world of difference figuring this out quickly and getting her the right care that she needed almost immediately.”

Brynn, now 4, got the genetic testing as part of a clinical trial, the results of which were published recently in the Journal of the American Medical Association. “Whole genome” tests are nearly twice as good as narrower tests at unearthing genetic abnormalities that can cause disease in infants — the study found 49% of abnormalities, compared to 27% with more commonly used tests targeting particular types of genetic diseases.

Whole genome tests could solve the problem of doing several narrowly targeted tests on babies, which still might not find the disorder. Experts caution there are some issues, because labs vary in how they interpret results, and whole genome tests are costlier and less likely to be covered by insurance.

But researchers envision that whole genome tests eventually will be used for millions of hospitalized babies with confounding, sometimes life-threatening conditions. According to the U.S. National Human Genome Research Institute, around 350 million people worldwide live with rare disorders, and about 80% of the more than 7,000 conditions are genetic.

See also  Maury Povich Wife 'Livid' Over His At-Home Paternity Tests: Source

“I’ve been doing clinical trials of babies for over 40 years,” said study author Dr. Jon Davis, chief of newborn medicine at Tufts Medical Center in Boston. “It’s not often that you can do something that you feel is going to really change the world and change clinical practice for everyone.”

The night after Brynn was born, her mother Lindsay noticed her skin was gray, her breathing labored. Blood had pooled beneath Brynn’s scalp, causing two bulges on her head.

Doctors transferred her to the neonatal intensive care unit at Cincinnati Children’s Hospital Medical Center, where she got blood transfusions and tests for different bleeding problems. She improved and went home — only to wind up back in the hospital when she was about a month old for the massive brain bleed. A doctor warned she likely wouldn’t make it. A pastor prayed with the family.

After her surgery, Brynn stayed in the NICU for two months. At various points, doctors thought she might have a vascular problem or a mass in her liver.

“Everybody was very unsettled because nobody knew what the heck was going on,” Lindsay Schulte recalled. “I don’t think we slept. I mean, watching your child nearly die in front of your eyes twice is a memory I’ll never erase.”

Then the Schultes learned about the clinical trial, which involved 400 hospitalized infants. Brynn and both parents got the whole genome testing. The diagnosis came in less than a week: She had the rare bleeding disorder, which affects an estimated 1 in 2 million to 1 in 3 million live births, and another condition causing a severe reaction to certain anesthesia drugs.

See also  Study compares changes in postpartum relationship satisfaction between first- and second-time fathers

Doctors said that diagnosis would likely have been delayed — or even missed — with multiple narrower tests.

Many babies in the trial had genetic variants that narrower tests just couldn’t detect, said Dr. Jill Maron, a study author and chief of pediatrics at Women & Infants Hospital in Rhode Island.

That’s because targeted tests cover maybe 1,700 out of 20,000 genes, so whole genome testing simply “captures more things,” said Dr. Paul Kruszka of GeneDx, a company that provides whole genome testing but wasn’t involved in the study.

Another child in the clinical trial, 2-year-old Cash Denaro of Oceanside, California, was found to have a genetic condition called Noonan syndrome, which involves heart defects, developmental delays and other problems. His mom, Amanda Denaro, said that with the diagnosis, “we know what they think he may be delayed on, so we can work on these more — not just kind of push it under the rug.”

Broader access to full genome tests is necessary if more kids are going to be helped, experts like Maron said. Full genome tests generally cost about three times more than narrower tests, she said, and aren’t covered by Medicaid in most states.

Then there’s the question of interpreting test results: More than 40% of the time in the study, labs found the same genetic variant, but one considered it the cause of disease while the other saw it as insignificant. Philip Brooks at the National Institutes of Health, which helped pay for the research, said it “remains a topic to be addressed.”

See also  Healthcare Costs Will Increase Significantly Over The Next Decade

One reason for the differing interpretations is that science is moving so quickly linking genes to disorders and there isn’t a comprehensive international system where doctors can check for the latest information, said Mara Aspinall, who teaches biomedical diagnostics at Arizona State University. She was not involved in the study.

Despite such hurdles, some kids are already benefitting from whole genome testing. It made all the difference in ensuring Brynn got the right treatment so she could thrive, said Dr. Cristina Tarango, her hematologist at Cincinnati Children’s.

Today, Brynn lives like any active preschooler except for regular infusions of factor XIII replacement.

On a recent morning, Lindsay Schulte put “Sleeping Beauty” on the television and laid Brynn on a blanket on the kitchen counter. A visiting nurse took blood from a port implanted in her chest and Schulte slowly administered the medication through a syringe.

Like usual, Brynn chose the bandage to put over her port — one featuring a cat from her favorite show.

“All done!” her mom chirped, and soon Brynn was running barefoot across a couch, gleefully chasing her older brother.

— Laura Ungar

genome Hold Infants lives promise Saving Tests
Share. Facebook Twitter Pinterest LinkedIn Tumblr Email

Related Posts

Pakistan Welcomes Starlink. But Can It Deliver on Its Promise?

March 29, 2025

Central Asian Energy Ministers Hold ‘First’ Meeting

August 8, 2024

5 Eco-Guardians Saving Our Planet Behind The Scenes 

July 18, 2024

China’s TikTok Fails to Live Up to Promise on Protecting Data of U.S. Users

January 31, 2024
Add A Comment

Leave A Reply Cancel Reply

Top Posts

Rep. Mike Gallagher Joins Pat McAfee Show Wearing T-Shirt Depicting John Cena as Mao

June 29, 2023

‘The Golden Bachelor’: See First Look at Senior Citizen Leading Man

July 16, 2023

Nikki Haley On Joe Biden

April 28, 2023

Brazil’s crusading justice Moraes ratchets up fight with global tech giants

May 11, 2023
Don't Miss

How Smart Mattresses Improve Sleep Quality For Couples

Lifestyle May 9, 2025

Sharing a bed with your partner can be romantic… until it’s not. One of you…

OpenAI CEO Warns: ‘Not A Huge Amount Of Time’ Until China Overpowers American AI

May 9, 2025

Short and Funny Sayings for a Happy Summer with Friends

May 9, 2025

Trump Announces First Post-Tariff Trade Deal

May 8, 2025
About
About

This is your World, Tech, Health, Entertainment and Sports website. We provide the latest breaking news straight from the News industry.

We're social. Connect with us:

Facebook Twitter Instagram Pinterest
Categories
  • Business (4,111)
  • Entertainment (4,220)
  • Finance (3,202)
  • Health (1,938)
  • Lifestyle (1,628)
  • Politics (3,084)
  • Sports (4,036)
  • Tech (2,006)
  • Uncategorized (4)
  • World (3,944)
Our Picks

How To Make Your Laundry Routine More Sustainable And Eco-Friendly

May 2, 2023

Katy Perry Seeks $5.3 Million in Damages From 84-Year-old Vet

September 15, 2023

July industrial output, fixed asset, retail miss expectations

August 15, 2023
Popular Posts

How Smart Mattresses Improve Sleep Quality For Couples

May 9, 2025

OpenAI CEO Warns: ‘Not A Huge Amount Of Time’ Until China Overpowers American AI

May 9, 2025

Short and Funny Sayings for a Happy Summer with Friends

May 9, 2025
© 2025 Patriotnownews.com - All rights reserved.
  • Contact
  • Privacy Policy
  • Terms & Conditions

Type above and press Enter to search. Press Esc to cancel.