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The relationship between the gastric cancer microbiome and clinicopathological factors: a metagenomic investigation from the 100,000 genomes project and The Cancer Genome Atlas Open
Background Findings from previous gastric cancer microbiome studies have been conflicting, potentially due to patient and/or tumor heterogeneity. The intratumoral gastric cancer microbiome and its relationship with clinicopathological vari…
View article: The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease Open
Background Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have …
Genomic findings with familial implications: agenda setting in light of mainstreaming Open
An international workshop was held in Leuven, Belgium, on June 19–20, 2023, to discuss the communication of genetic risk information within families in the context of personalized prevention. Organized as part of the Horizon Europe project…
View article: Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England
Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England Open
Introduction: The National Health Service (NHS) in England is the first to offer whole genome sequencing (WGS) as part of standard care. As a high-income country with a universal healthcare system, England contributes a valuable perspectiv…
“A very big challenge”: a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England Open
Background: The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. In this qualitative study o…
Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012–2022) Open
In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature…
Public engagement with genomics Open
As detailed in its flagship report, Genome UK, the UK government recognises the vital role that broad public engagement across whole populations plays in the field of genomics. However, there is limited evidence about how to do this at sca…
The legacy of language: What we say, and what people hear, when we talk about genomics Open
The way we "talk" about genetics plays a vital role in whether public audiences feel at ease in having conversations about it. Our research explored whether there was any difference between "what we say" and "what people hear" when providi…
Public engagement with genomics Open
As detailed in its flagship report, Genome UK, the UK government recognises the vital role that broad public engagement across whole populations plays in the field of genomics. However, there is limited evidence about how to do this at sca…
View article: Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis Open
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive neurodegenerative disease, usually caused by biallelic AAGGG repeat expansions in RFC1. In this study, we leveraged whole genome sequencing …
Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping Open
Background Cancer genome sequencing enables accurate classification of tumours and tumour subtypes. However, prediction performance is still limited using exome-only sequencing and for tumour types with low somatic mutation burden such as …
View article: International genetic counseling: What do genetic counselors actually do?
International genetic counseling: What do genetic counselors actually do? Open
We conducted an exploratory survey of genetic counselors internationally to assess similarities and differences in reported practice activities. Between November 2018 and January 2020 we conducted a mass emailing to an estimated 5600 genet…
B1MG D1.6 Citizen engagement and public trust in genomic data sharing Open
The '1+ Million Genomes' (1+MG) initiative, coordinated by the Beyond 1 Million Genomes (B1MG) project, aims to enable secure access to genomic and corresponding clinical data across Europe for research, personalised healthcare, and policy…
View article: The genomic landscape of familial glioma
The genomic landscape of familial glioma Open
Glioma is a rare brain tumor with a poor prognosis. Familial glioma is a subset of glioma with a strong genetic predisposition that accounts for approximately 5% of glioma cases. We performed whole-genome sequencing on an exploratory cohor…
View article: Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition Open
Dravet syndrome is an archetypal rare severe epilepsy, considered ‘monogenic’, typically caused by loss-of-function SCN1A variants. Despite a recognizable core phenotype, its marked phenotypic heterogeneity is incompletely explained by dif…
View article: Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population
Unexpected frequency of the pathogenic <i>AR</i> CAG repeat expansion in the general population Open
CAG repeat expansions in exon 1 of the AR gene on the X chromosome cause spinal and bulbar muscular atrophy, a male-specific progressive neuromuscular disorder associated with a variety of extra-neurological symptoms. The disease has a rep…
View article: Repeat expansions in <i>NOP56</i> are a cause of spinocerebellar ataxia Type 36 in the British population
Repeat expansions in <i>NOP56</i> are a cause of spinocerebellar ataxia Type 36 in the British population Open
Spinocerebellar ataxias form a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive cerebellar ataxia. Their prevalence varies among populations and ethnicities. Spinocerebellar ataxia …
View article: Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison
Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison Open
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