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Updates on Rare Genetic Variants, Genetic Testing, and Gene Therapy in Individuals With Obesity
Purpose of ReviewThe goal of this paper is to aggregate information on monogenic contributions to obesity in the past five years and to provide...
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Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder
Several studies show great heterogeneity in the type of genetic test requested and in the clinicopathological characteristics of patients with ASD....
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Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing
AbstractPrenatal diagnoses of congenital malformations have increased significantly in recent years with use of high-resolution prenatal imaging....
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Racial Disparities in Breast Cancer Genetic Testing May be Mitigated by Counseling
BackgroundCurrently, racial disparities exist in access to genetic testing. Recent developments have helped narrow the gap in accessibility. The...
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Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs
The use of genetic testing has enhanced the diagnostic accuracy of heritable genetic cardiomyopathies. However, it remains unclear how genetic...
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Genetic Testing for Familial Hypercholesterolemia in Clinical Practice
Purpose of ReviewGenetic testing has proven utility in identifying and diagnosing individuals with FH. Here we outline the current landscape of...
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Idiopathic ventricular fibrillation: is it a case for genetic testing?
Idiopathic ventricular fibrillation (IVF) is a diagnosis of exclusion in sudden cardiac arrest (SCA) survivors. Although there are clear guidelines...
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Genetic Testing in Interstitial Lung Disease: Potential Benefits and Unintended Risks
Purpose of ReviewThis review aims to summarize the recent evidence supporting the role of genetic testing across the spectrum of interstitial lung...
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Collaborative efforts to improve genetic testing in the neonatal intensive care unit
ObjectiveTo reduce unnecessary simultaneous karyotype analysis and chromosomal microarray (CMA) testing in the neonatal intensive care unit (NICU).
...
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Genetic Testing in Metastatic Breast Cancer in the USA: A Podcast
This podcast highlights the importance of genetic testing in patients with metastatic breast cancer, with a specific focus on germline or inherited...
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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts
The role of genetic testing in neurologic clinical practice has increased dramatically in recent years, driven by research on genetic causes of...
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The Michigan Genetic Hereditary Testing (MiGHT) study’s innovative approaches to promote uptake of clinical genetic testing among cancer patients: a study protocol for a 3-arm randomized controlled trial
BackgroundAlthough most cancers are sporadic, germline genetic variants are implicated in 5–10% of cancer cases. Clinical genetic testing identifies...
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Ordering genetic testing by neurologists: points to consider
A significant challenge limiting the comprehensive utilization of genomic medicine is the lack of timely access to genetics specialists. Although...
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Legal aspects of genetic testing in the evaluation of ventricular tachycardias
There is increasing knowledge of the genetic basis of distinct cardiac pathologies that are related to ventricular tachyarrhythmias (VT) and sudden...
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A novel embryo biopsy morphological analysis and genetic integrality criterion system significantly improves the outcome of preimplantation genetic testing
PurposeWhile efforts have been made to establish blastocyst grading systems in the past decades, little research has examined the quality of biopsy...
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Hereditary or acquired? Comprehensive genetic testing assists in stratifying angioedema patients
Hereditary angioedema (HAE) poses diagnostic challenges due to its episodic, non-specific symptoms and overlapping conditions. This study focuses on...
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OneGene PGT: comprehensive preimplantation genetic testing method utilizing next-generation sequencing
PurposePreimplantation genetic testing for monogenic disorders (PGT-M) allows early diagnosis in embryos conceived in vitro. PGT-M helps to prevent...
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Clinical utility of genetic testing in Indian children with kidney diseases
BackgroundKidney diseases with genetic etiology in children present with an overlapping spectrum of manifestations. We aimed to analyze the clinical...
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Genetic Testing Goes Beyond Imaging and Histological Evaluation in Pleuroparenchymal Fibroelastosis
BackgroundLung biopsy remains the gold standard in the diagnosis of fibrotic interstitial lung disease (F-ILD), but there is a growing appreciation...
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The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape
Purpose of ReviewPathogenic DNA variants underlie many cardiovascular disease phenotypes. The most well-recognized of these include familial...
