Genomic testing in healthcare: a hybrid space where clinical practice and research need to co-exist.

Genomic testing in healthcare: a hybrid space where clinical practice and research need to co-exist. Expert Rev Mol Diagn. 2019 Oct 11;:1-5 Authors: Horton R, Lucassen A Abstract Introduction: Clinical practice and research are traditionally seen as distinct activities that are governed by different principles and processes. Innovative technologies such as genomic testing challenge this model, involving many activities that cannot be easily categorized as purely research, or purely clinical care. Areas covered: We discuss the interdependence of research and clinical practice in the context of genomics, for example, when determining the significance of rare genetic variants, or diagnosing newly described rare diseases. We highlight the potential of the symbiotic relationship between clinical practice and research. Expert opinion: In the context of genomics, it is not appropriate to treat clinical practice and research as entirely separable. Forcing binary categorization of activities as one or the other risks losing the many benefits that derive from their integration. We need to explore the hybrid area where clinical practice and research coincide, developing governance that allows us to maximize its potential, rather than insisting that hybrid clinical-research activities conform to processes built for 'pure clinical practice' or 'pure research'. We argue the need for a renegotiation of the contract around genomic testing, recognizing, valuing and facili...
Source: Expert Review of Molecular Diagnostics - Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

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Sickle cell disease (SCD) is the most commonly inherited genetic blood disorder, affecting nearly 100,000 children and adults in the United States. Three million Americans carry the sickle cell trait and it is nearly25 times more common in people of African American descent. The disorder, which can cause irregularly shaped blood cells to get stuck in narrow vessels, inflicts substantial pain on patients. The resulting reduced oxygen flow creates life-threatening complications such as difficulty breathing, chest pains, blood clots and stroke.
Source: The Catalyst - Category: Pharmaceuticals Authors: Tags: Research and Development Rare Diseases Pelosi Plan Source Type: news
Authors: Valerieva A, Senter R, Wu MA, Zanichelli A, Cicardi M Abstract Introduction: Hereditary angioedema (HAE) with C1 esterase inhibitor deficiency (C1-INH-HAE) is a rare disease that manifests with cutaneous and/or submucosal swellings due to uncontrolled activation of the contact/kinin system. Attacks recur with unpredictable frequency and severity, laryngeal edema is potentially lethal, and the disease burden may severely disrupt patients' lives.Areas covered: This review provides an overview on lanadelumab, a human monoclonal antibody targeted against plasma kallikrein that was recently approved for prevent...
Source: Expert Review of Clinical Immunology - Category: Allergy & Immunology Tags: Expert Rev Clin Immunol Source Type: research
This article describes our institutional experience with head and neck paragangliomas, with an emphasis on evaluating clinical outcomes among malignant head and neck paragangliomas. All of these patients with malignant head and neck paragangliomas were considered surgical candidates without known metastatic disease at presentation. Furthermore, all patients were presented at our institutional head and neck treatment planning conference where surgical oncologists, medical oncologist s, and radiation oncologists recommend the best treatment option that is catered for each patient. Surgical resection was only offered when the...
Source: JAMA Otolaryngology - Head and Neck Surgery - Category: ENT & OMF Source Type: research
ConclusionsWe report robust association of novel genesKLK1 andGGCX with IPAH, accounting for ~  0.4% and 0.9% of PAH Biobank cases, respectively. Both genes play important roles in vascular hemodynamics and inflammation but have not been implicated in PAH previously. These data suggest new genes, pathogenic mechanisms, and therapeutic targets for this lethal vasculopathy.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research
Bhanu Mishra, Sunil Prakash, Subhash Chandra, Sanjeev Gera, Ashwini Goel, Amit K Yadav, Ganesh Dhanuka, Satendra YadavIndian Journal of Nephrology 2019 29(6):431-432
Source: Indian Journal of Nephrology - Category: Urology & Nephrology Authors: Source Type: research
ConclusionSince only 2 out of 38 SIPs were positive for HPV (type 11), and at the same time p16 was positive in epithelia in all samples and in 37 of 38 papilloma lesions of the samples, it is concluded that p16 cannot be used as a surrogate marker for high-risk HPV-infection in SIP. We are currently planning a prospective, multicenter study in order to increase the study power and in order to be able to better evaluate the clinical implications of HPV-and p16 in SIP.
Source: European Annals of Otorhinolaryngology, Head and Neck Diseases - Category: ENT & OMF Source Type: research
Gene Therapy, Published online: 13 November 2019; doi:10.1038/s41434-019-0110-7A rare disease patient/caregiver perspective on fair pricing and access to gene-based therapies
Source: Gene Therapy - Category: Genetics & Stem Cells Authors: Source Type: research
CONCLUSIONS: SWI indicates accumulation of paramagnetic compounds in the thalamic nuclei in patients with aspartylglucosaminuria. The finding may raise the suspicion of this rare disease in clinical practice.
Source: American Journal of Neuroradiology - Category: Radiology Authors: Tags: PEDIATRICS Source Type: research
F Hu, Y Zhang, Z YiNigerian Journal of Clinical Practice 2019 22(11):1617-1620 Budd–Chiari syndrome (BCS) is a rare disease characterized by obstruction of hepatic venous outflow tract with diversified etiologies. Sea-blue histiocytosis (SBH) is a kind of storage diseases defined by the deposition of abundant sea-blue histiocytes in various organs and can lead to hepatosplenomegaly, cirrhosis, or even liver failure. The association between BCS and SBH has never been reported before. Here, we report a patient with BCS presenting with hepatosplenomegaly, portal hypertension, and pancytopenia who was later confirmed to also have SBH.
Source: Nigerian Journal of Clinical Practice - Category: Rural Health Authors: Source Type: research
We report the case of a 55-year-old diabetic Nigerian woman who presented with typical NL lesions on the lower legs and who responded very well to topical betamethasone dipropionate 0.05% cream. We also briefly review the probable underlying mechanisms leading to the condition and the various treatments that have been found useful.
Source: Nigerian Journal of Clinical Practice - Category: Rural Health Authors: Source Type: research
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