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A Randomized Trial Comparing the Effectiveness of Pre-test Genetic Counseling Using an Artificial Intelligence Automated Chatbot and Traditional In-person Genetic Counseling in Women Newly Diagnosed with Breast Cancer
BackgroundAlternative service delivery models are critically needed to address the increasing demand for genetics services and limited supply of...
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The ENGAGE study: evaluation of a conversational virtual agent that provides tailored pre-test genetic education to cancer patients
PurposeNovel approaches are needed to ensure all patients with cancer have access to quality genetic education before genetic testing to enable...
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Surgical Oncologists and Nurses in Breast Cancer Care are Ready to Provide Pre-Test Genetic Counseling
BackgroundPre-test genetic counseling for patients with breast cancer is increasingly being provided by nongenetic healthcare professionals. We...
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Using the global randomization test as a Mendelian randomization falsification test for the exclusion restriction assumption
Mendelian randomization may give biased causal estimates if the instrument affects the outcome not solely via the exposure of interest (violating the...
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Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome
BackgroundIdiop athic nephrotic syndrome (INS) is classified in children according to response to initial corticosteroid therapy into...
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Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands
The introduction of rapid exome sequencing (rES) for critically ill neonates admitted to the neonatal intensive care unit has made it possible to...
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Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
BackgroundExome sequencing is recommended as a first-line investigation for patients with a developmental delay or intellectual disability. This...
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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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Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genoty** test?
PurposeTo estimate the probability of high-risk genetic matching when assisted reproductive techniques (ART) are applied with double gamete donation,...
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The outcome of genetic and non-genetic pediatric cardiomyopathies
BackgroundPediatric cardiomyopathies (CMP) can be familial or idiopathic with increasing detection of genetic mutations. The study is a retrospective...
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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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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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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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Genetic overlap between Alzheimer’s disease and immune-mediated diseases: an atlas of shared genetic determinants and biological convergence
The occurrence of immune disease comorbidities in Alzheimer’s disease (AD) has been observed in both epidemiological and molecular studies,...
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Associations of combined genetic and lifestyle risks with hypertension and home hypertension
No study, to our knowledge, has constructed a polygenic risk score based on clinical blood pressure and investigated the association of genetic and...
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Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report
BackgroundIn typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter referred to as diuretic...
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The MAPP Room Memory Test: Examining Contextual Memory Using a Novel Computerized Test in Cognitively-Unimpaired Individuals with Autosomal Dominant Alzheimer’s Disease
Contextual memory, the ability to remember spatial or temporal features related to an event, is affected in Alzheimer’s disease (AD). There is a...
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The MAPP Room Memory Test: Examining Contextual Memory Using a Novel Computerized Test in Cognitively-Unimpaired Individuals with Autosomal Dominant Alzheimer’s Disease
Contextual memory, the ability to remember spatial or temporal features related to an event, is affected in Alzheimer’s disease (AD). There is a...
