Publications by authors named "Bryce A Heese"

Purpose: This study aimed to assess the amount and types of clinical genetic testing denied by insurance and the rate of diagnostic and candidate genetic findings identified through research in patients who faced insurance denials.

Methods: Analysis consisted of review of insurance denials in 801 patients enrolled in a pediatric genomic research repository with either no previous genetic testing or previous negative genetic testing result identified through cross-referencing with insurance prior-authorizations in patient medical records. Patients and denials were also categorized by type of insurance coverage.

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Article Synopsis
  • The study focused on improving diagnosis and understanding of genetic disorders in children through the Genomic Answers for Kids program by analyzing genetic information from 960 families.
  • Researchers utilized various sequencing methods, including short-read and long-read genome sequencing, alongside machine learning to prioritize genetic variants and stored the data in a structured database for future access.
  • The results showed varying diagnostic success rates, with new diagnostic information gained from structural variants and long-read sequencing, highlighting ongoing challenges in identifying variants of unknown significance in nondiagnostic cases.
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Status epilepticus is not rare in critically ill intensive care unit patients, but its diagnosis is often delayed or missed. The mortality for convulsive status epilepticus is dependent on the underlying aetiologies and the age of the patients and thus varies from study to study. In this context, effective molecular diagnosis in a pediatric patient with a genetically heterogeneous phenotype is essential.

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Cardiac involvement has been reported in various mucopolysaccharidoses syndromes. Cardiac valve pathology is the most prominent cardiac manifestation of patients with these syndromes. To date, there have been no reports of early childhood onset of high-grade atrioventricular block in patients with Hunter syndrome.

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Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable to single-gene mutations at more than 1000 loci. Traditional methods yield molecular diagnoses in less than one-half of children with NDD. Whole-genome sequencing (WGS) and whole-exome sequencing (WES) can enable diagnosis of NDD, but their clinical and cost-effectiveness are unknown.

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Lysosomal storage diseases (LSDs) comprise a diverse group of over 40 clinically distinct inherited disorders. LSDs are progressive and may present at any age affecting any number of tissues and organ systems. They result from a genetic defect in cellular transport or metabolism of molecules within the lysosome.

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Primary carnitine deficiency impairs fatty acid oxidation and can result in hypoglycemia, hepatic encephalopathy, cardiomyopathy and sudden death. We diagnosed primary carnitine deficiency in six unrelated women whose unaffected infants were identified with low free carnitine levels (C0) by newborn screening using tandem mass spectrometry. Given the lifetime risk of morbidity or sudden death, identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs.

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