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Genetic testing in children with nephrolithiasis and nephrocalcinosis
BackgroundDiagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine...
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Interest in and Experience with Genetic Testing for Late-Onset Medical Conditions: Results from the National Poll on Healthy Aging
BackgroundThe increasing availability of genetic testing for late-onset diseases such as Alzheimer’s disease necessitates understanding public...
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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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Preimplantation genetic testing in the current era, a review
BackgroundPreimplantation genetic testing (PGT), also referred to as preimplantation genetic diagnosis (PGD), is an advanced reproductive technology...
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Genetic Testing for Cancer Risk and Perceived Importance of Genetic Information Among US Population by Race and Ethnicity: a Cross-sectional Study
BackgroundGenetic testing can help determine the risk of many cancers and guide cancer prevention and treatment plans. Despite increasing concern...
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Clinical Genetic Testing in Kidney Disease and Transplantation: Logistical, Ethical, Legal, and Social Considerations
Purpose of ReviewThe role of genetics in renal disorders is being increasingly recognized, prompting the need to describe and address barriers to...
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Physicians’ use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study
BackgroundGenetic testing can facilitate the diagnosis and subsequent therapeutic management of rare diseases. However, there is a lack of data on...
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Exploring Breast Surgeons’ Attitudes on Universal Genetic Testing: A Qualitative Study
BackgroundThe American Society of Breast Surgeons released a consensus statement that genetic testing should be made available to all patients with a...
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Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy
We evaluated the utility of genetic testing in the pre-surgical evaluation of pediatric patients with drug-resistant focal epilepsy. This...
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Universal genetic counseling in breast cancer patients significantly improves overall testing rates and improves completion rates in subpopulations
PurposeThe NCCN guidelines recommend genetic testing in those patients at increased risk of breast cancer in order to identify candidates for...
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Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome
BackgroundSteroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases, however, there are still no clear guidelines on genetic testing in...
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The value of knowing: preferences for genetic testing to diagnose rare muscle diseases
BackgroundGenetic testing can offer early diagnosis and subsequent treatment of rare neuromuscular diseases. Options for these tests could be...
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Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
BackgroundPompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading...
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Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States
BackgroundGenetic testing is at the forefront of medical diagnosis, management, and preventative care particularly within the field of nephrology,...
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Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
Purpose of ReviewLipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid...
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Preimplantation Genetic Testing for Inherited Heart Diseases
Purpose of ReviewPreimplantation genetic testing for monogenic conditions (PGT-M) is an increasingly utilized reproductive technology for patients...
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Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
Sudden cardiac death (SCD) might have an inherited cardiac condition background. Genetic testing supports post-mortem diagnosis and screening of...
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Access disparities and underutilization of germline genetic testing in Chilean breast cancer patients
PurposeLatin American reports on genetic cancer risk assessments are scarce. In Chile, current breast cancer (BC) guidelines do not define strategies...
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A qualitative feasibility study of a prototype patient-centered video intervention to increase uptake of cancer genetic testing among Black Americans
BackgroundHealth advances due to developments in genomic medicine are unequally experienced in the USA; racial differences in the uptake of genetic...
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A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases
BackgroundThe use of genetic testing in pediatric patients with chronic kidney diseases (CKD) has increased exponentially in the past few years,...
