A new framework, confirmed in a study of 89
million points of data, could help patients receive precision care
years earlier than before
PHILADELPHIA, July 30,
2024 /PRNewswire/ -- Diagnosing the genetic
cause of a disease can aid in finding therapies and directing
treatment, but often these diagnoses occur long after the disease
has impacted a patient's life. In a new study, researchers from
Children's Hospital of Philadelphia (CHOP) used machine learning and
artificial intelligence to comb through medical records and use
clinical notes to match symptoms with specific genetic epilepsies.
The results of their study could significantly improve the time to
diagnosis and treatment. The findings were recently published in
the journal Genetics in Medicine.
More than 100 epilepsies caused by a single gene mutation have
been identified, with several therapies being designed to target
the genes responsible for these epilepsies. However, genetic
testing can take a long time to confirm a particular genetic
epilepsy. For example, in Dravet Syndrome, one of the most common
genetic epilepsies, symptoms can be observed between the ages of 6
to 9 months, yet the average age for diagnosis is 4.2 years. Cost
and access barriers continue to be an issue, meaning that
researchers need to develop methods for making diagnoses more
timely and more widely accessible.
Prior studies from the Epilepsy Genetics Initiative (ENGIN) at
CHOP, one of the largest epilepsy genetics program in the country
with more than 5,000 individuals assessed for epilepsy genetics
evaluations so far, have demonstrated that standardized data from
Electronic Medical Records can be used to study clinical data at
very large scales and better predict onset of epilepsy based on
symptoms instead of relying solely on a confirmed genetic
diagnosis. Building upon these previously developed techniques,
researchers in this study aimed to identify early clinical features
that could suggest a genetic diagnosis of epilepsy.
"We wanted to determine whether the type of information captures
in electronic medical records prior to genetic testing could
provide clinicians with clues for a later diagnosis," said first
study author Peter D. Galer, MSc, a
PhD student with ENGIN at CHOP and the Center for Neuroengineering
and Therapeutics at the University of
Pennsylvania. "In this instance, we found that a wide range
of genetic epilepsies have key clinical features that present prior
to genetic testing and diagnosis."
Using Natural Language Processing, an AI-driven standardized
method for processing clinical information from text in Electronic
Medical Records, the researchers extracted 89 million timestamped
clinical annotations from 4,572,783 clinical notes from 32,112
individuals with childhood epilepsy, including 1,925 individuals
with known or presumed genetic epilepsies. The researchers
identified 47,774 age-dependent associations of clinical features
with genetic epilepsies a median of 3.6 years prior to when those
diagnoses were confirmed with a genetic test. A total of 710
genetic etiologies were identified in the cohort, and in that
group, neurodevelopmental differences observed between the ages of
6 and 9 months increased the likelihood of a later genetic
diagnosis fivefold.
"By examining a very large dataset of individuals with childhood
epilepsies, we believe that our results could be used prospectively
for new diagnose. Since most clinicians use Electronic Medical
Records, we believe this system could be widely adapted and
utilized even in patient populations where genetic testing is not
immediately available after symptom onset," said senior study
author Ingo Helbig, MD, pediatric
neurologist in the Division of Neurology, co-director of ENGIN, and
Clinical Director of the CHOP/Penn Center for Epilepsy and
Neurodevelopmental Disorders (ENDD). Helbig also serves as the
Scientific Director of Arcus Omics, an institution-wide initiative
that allows for genomics and clinical data at CHOP to be analyzed
jointly. The analysis of the combined dataset was only made
possible through the resources of the resources by the Arcus Omics
team. "In the era of precision medicine, quicker, more accurate
prognoses could make an enormous difference in the lives of
individuals living with genetic epilepsies."
This study was supported by the National Institute of
Neurological Disorders and Stroke.
Galer et al, "Clinical signatures of genetic epilepsies precede
diagnosis in electronic medical records of 32,000 individuals."
Genet Med. Online July 14,
2024. DOI: 10.1016/j.gim.2024.101211.
About Children's Hospital of Philadelphia:
A non-profit, charitable organization, Children's Hospital of
Philadelphia was founded in 1855
as the nation's first pediatric hospital. Through its long-standing
commitment to providing exceptional patient care, training new
generations of pediatric healthcare professionals, and pioneering
major research initiatives, the hospital has fostered many
discoveries that have benefited children worldwide. Its pediatric
research program is among the largest in the country. The
institution has a well-established history of providing advanced
pediatric care close to home through its CHOP Care Network, which
includes more than 50 primary care practices, specialty care and
surgical centers, urgent care centers, and community hospital
alliances throughout Pennsylvania
and New Jersey, as well as the
Middleman Family Pavilion and its dedicated pediatric
emergency department in King of
Prussia. In addition, its unique family-centered care and
public service programs have brought Children's Hospital of
Philadelphia recognition as a
leading advocate for children and adolescents. For more
information, visit https://www.chop.edu.
Contact:
Kaila Revello
Children's Hospital of Philadelphia
610-457-5916
contikm@chop.edu
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SOURCE Children's Hospital of Philadelphia