Comprehensive Genetic Testing Saved One Infant’s Life; Studies Indicate Potential for Widespread Impact

by Chloe Baker
Whole genome tests

Twice in her infancy, Brynn Schulte faced life-threatening situations, undergoing emergency surgery at one juncture to address severe cerebral hemorrhaging. The cause of her suffering remained elusive until a comprehensive genetic test identified a rare clotting disorder, known as Factor XIII deficiency, thereby facilitating early intervention that was lifesaving.

Brynn’s father, Mike Schulte, expressed the profound relief that the diagnosis brought, stating, “The uncertainty was unbearable. Utilizing a comprehensive approach made all the difference in swiftly diagnosing Brynn and administering the necessary medical treatment.”

Now four years old, Brynn underwent the genetic test as a participant in a clinical study, the findings of which were recently published in the Journal of the American Medical Association. The research suggests that whole genome testing is substantially more effective than more specialized tests in identifying genetic anomalies that may lead to diseases in newborns—49% effectiveness compared to 27%.

Comprehensive genetic testing could potentially eliminate the need for multiple, specific tests that might still miss underlying disorders. However, experts note certain limitations, including differing lab interpretations and higher costs which are often not covered by insurance policies.

Researchers are optimistic that such comprehensive tests will eventually become a standard procedure for millions of infants hospitalized with mysterious, and sometimes critical, conditions. The U.S. National Human Genome Research Institute estimates that about 350 million people globally are affected by rare disorders, approximately 80% of which have a genetic origin.

Dr. Jon Davis, Chief of Neonatology at Tufts Children’s Hospital in Boston and the study’s primary author, noted, “Having been involved in pediatric clinical trials for four decades, it’s rare to encounter a development that has the potential to revolutionize clinical practice globally.”

On the night following Brynn’s birth, her mother Lindsay Schulte observed greyish skin and difficult breathing in her daughter. Subsequent medical examinations revealed pooled blood beneath Brynn’s scalp. After her condition initially stabilized following intensive medical care, she had to be re-admitted to the hospital due to a severe cerebral hemorrhage. The family braced for the worst; medical professionals warned of low survival prospects.

Brynn spent two months in the Neonatal Intensive Care Unit, during which physicians considered multiple potential diagnoses, including vascular issues and liver abnormalities. The uncertainty was tormenting, as Lindsay Schulte described, “It was a ceaseless ordeal of fear and uncertainty. Watching your child almost die twice leaves an indelible mark on your memory.”

The Schulte family eventually enrolled Brynn in a clinical trial involving 400 hospitalized infants. Whole genome testing was conducted on Brynn and both her parents, and within a week, she was diagnosed not only with Factor XIII deficiency but also with a condition making her highly susceptible to certain anesthetic drugs. Medical experts asserted that such a diagnosis could have been delayed or missed entirely with narrower tests.

According to Dr. Jill Maron, a co-author of the study, narrower tests frequently failed to detect numerous genetic variants that were identifiable through whole genome testing. Dr. Paul Kurszka, who is not affiliated with the study but is an expert in the field, added that whole genome tests are more comprehensive, covering a significantly larger portion of the genetic spectrum.

Despite the potential for life-saving interventions, broader implementation of whole genome tests faces obstacles. The cost, which is substantially higher than targeted tests and often not covered by Medicaid, remains a significant barrier. Furthermore, the study noted that in over 40% of cases, labs interpreted the same genetic variant differently, a discrepancy attributed to the rapid pace of scientific advancement and the lack of an international standard for interpretation.

Yet, despite these challenges, whole genome testing has already had a transformative impact on some lives. Brynn’s hematologist at Cincinnati Children’s Hospital, Dr. Cristina Tarango, stated that the test was instrumental in tailoring the appropriate treatment regimen for Brynn.

Today, Brynn’s life resembles that of any other active preschooler, with the exception of regular treatments for her Factor XIII deficiency. On a recent morning, she lay on a kitchen counter as a visiting nurse collected a blood sample, after which her mother administered the necessary medication. Following the procedure, Brynn enthusiastically resumed her playful activities, pursuing her older brother around their home.

The Health and Science Department of The Big Big News is supported by the Howard Hughes Medical Institute’s Science and Educational Media Group. The AP holds sole responsibility for the content.

Frequently Asked Questions (FAQs) about Whole genome tests

What is the primary focus of the article?

The primary focus of the article is on the efficacy and potential of whole genome tests in diagnosing rare genetic disorders in infants. The article explores the benefits of this testing method through a case study involving a child named Brynn Schulte.

What is a whole genome test?

A whole genome test is a comprehensive examination of an individual’s entire genetic makeup. This test is substantially more effective than specialized tests in identifying genetic anomalies that could lead to diseases, especially in newborns.

How did whole genome testing help Brynn Schulte?

Whole genome testing was instrumental in diagnosing Brynn Schulte with a rare clotting disorder known as Factor XIII deficiency. The early diagnosis facilitated the necessary medical treatment that saved her life.

Are whole genome tests more effective than traditional methods?

According to the study published in the Journal of the American Medical Association, whole genome tests found 49% of genetic abnormalities in infants, compared to the 27% detected by narrower, more commonly used tests. Therefore, they are significantly more effective.

What are the limitations of whole genome testing?

The limitations of whole genome tests include their higher costs, which are often not covered by insurance, as well as variations in lab interpretations of the results.

Who funded the research on whole genome tests?

The research was supported in part by the National Institutes of Health. The article specifies that The Big Big News Health and Science Department also receives support from the Howard Hughes Medical Institute’s Science and Educational Media Group.

What is the estimated prevalence of rare genetic disorders worldwide?

According to the U.S. National Human Genome Research Institute, around 350 million people globally are affected by rare disorders, about 80% of which have a genetic origin.

Can whole genome tests become a standard procedure for infant healthcare?

Researchers are optimistic that whole genome tests will eventually become a standard diagnostic tool for infants hospitalized with enigmatic, sometimes life-threatening conditions, although several obstacles remain.

What is the potential impact of whole genome tests?

If widely implemented, whole genome tests have the potential to revolutionize the diagnosis and treatment of rare genetic disorders in infants, possibly affecting millions of lives.

Are there any ethical or interpretative challenges with whole genome testing?

One of the challenges is the discrepancy in lab interpretations of the same genetic variant. Over 40% of the time, labs differed in their conclusions, identifying the same variant either as the cause of the disease or as insignificant.

More about Whole genome tests

  • Journal of the American Medical Association Study
  • U.S. National Human Genome Research Institute on Rare Disorders
  • Overview of Whole Genome Sequencing
  • Medicaid Coverage Policies on Genetic Testing
  • National Institutes of Health Funding for Medical Research
  • Arizona State University Biomedical Diagnostics Program
  • GeneDx Company Profile

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RobertK August 26, 2023 - 3:29 pm

The article mentioned challenges in interpreting results. thats a huge issue that needs to be sorted before we make it mainstream. Don’t wanna get false hopes, right?

Linda G August 26, 2023 - 3:49 pm

It’s not just about detecting disorders. It’s also about the kind of targeted care these children can receive afterward. Early diagnosis is key.

Dave_McCoy August 26, 2023 - 5:55 pm

Impressive stuff. But isn’t it a slippery slope? What if insurance companies start to misuse this kind of info? Just sayin.

NancyP August 26, 2023 - 6:12 pm

As someone who’s dealt with medical issues in the family, every advancement counts. Hats off to the researchers for pushing the envelope.

MikeW August 27, 2023 - 3:22 am

What about the ethics? This kinda testing opens a Pandora’s box of ethical dilemmas we need to address.

SarahT August 27, 2023 - 10:13 am

as a mom, this hits close to home. So glad to hear about Brynn and how this test helped her. Medical science is amazing!

John D. August 27, 2023 - 12:07 pm

Wow, this is a game changer. Whole genome tests could literally save lives, especially for the kids born with rare conditions. I can’t even imagine the relief for the parents.

EmilyS August 27, 2023 - 12:59 pm

why aren’t these tests standard yet?? Costs I get, but this could save so many lives and heartache for families. Time to catch up, healthcare.


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