Commissioning Clinical Genetic Services in the UK

1999 ◽  
Vol 2 (1) ◽  
pp. 46-46
Author(s):  
H. Kääriäinen
Keyword(s):  
Genetic Services ◽  
Clinical Genetic ◽  
The Uk

scholarly journals Development of cancer genetic services in the UK: A national consultation

2015 ◽  
Vol 7 (1) ◽  
pp. 18 ◽  
Author(s):  
Ingrid Slade ◽  
Daniel Riddell ◽  
Clare Turnbull ◽  
Helen Hanson ◽  
Nazneen Rahman ◽  
...  
Keyword(s):  
Genetic Services ◽  
Cancer Genetic ◽  
Cancer Genetic Services ◽  
The Uk

scholarly journals Comparing satisfaction with clinical genetic services to other health services using a standardized survey, the CSQ-8©

2000 ◽  
Vol 2 (1) ◽  
pp. 64-64
Author(s):  
D B Flannery ◽  
S T Kozel ◽  
J L Waller ◽  
B M Ramaee ◽  
G Pullen
Keyword(s):  
Health Services ◽  
Genetic Services ◽  
Clinical Genetic

scholarly journals Understanding the burden of interstitial lung disease post-COVID-19: the UK Interstitial Lung Disease-Long COVID Study (UKILD-Long COVID)

2021 ◽  
Vol 8 (1) ◽  
pp. e001049
Author(s):  
Jim M Wild ◽  
Joanna C Porter ◽  
Philip L Molyneaux ◽  
Peter M George ◽  
Iain Stewart ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Hospital Admissions ◽  
Severe Infection ◽  
Primary Objective ◽  
Gas Transfer ◽  
Community Studies ◽  
Clinical Genetic ◽  
The Uk

IntroductionThe COVID-19 pandemic has led to over 100 million cases worldwide. The UK has had over 4 million cases, 400 000 hospital admissions and 100 000 deaths. Many patients with COVID-19 suffer long-term symptoms, predominantly breathlessness and fatigue whether hospitalised or not. Early data suggest potentially severe long-term consequence of COVID-19 is development of long COVID-19-related interstitial lung disease (LC-ILD).Methods and analysisThe UK Interstitial Lung Disease Consortium (UKILD) will undertake longitudinal observational studies of patients with suspected ILD following COVID-19. The primary objective is to determine ILD prevalence at 12 months following infection and whether clinically severe infection correlates with severity of ILD. Secondary objectives will determine the clinical, genetic, epigenetic and biochemical factors that determine the trajectory of recovery or progression of ILD. Data will be obtained through linkage to the Post-Hospitalisation COVID platform study and community studies. Additional substudies will conduct deep phenotyping. The Xenon MRI investigation of Alveolar dysfunction Substudy will conduct longitudinal xenon alveolar gas transfer and proton perfusion MRI. The POST COVID-19 interstitial lung DiseasE substudy will conduct clinically indicated bronchoalveolar lavage with matched whole blood sampling. Assessments include exploratory single cell RNA and lung microbiomics analysis, gene expression and epigenetic assessment.Ethics and disseminationAll contributing studies have been granted appropriate ethical approvals. Results from this study will be disseminated through peer-reviewed journals.ConclusionThis study will ensure the extent and consequences of LC-ILD are established and enable strategies to mitigate progression of LC-ILD.

scholarly journals Successful incorporation of a genetic risk prediction research platform into routine newborn screening

2021 ◽  
Author(s):  
Owen M Bendor-Samuel ◽  
Tabitha Wishlade ◽  
Louise Willis ◽  
Parvinder Aley ◽  
Edward Choi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Genetic Risk ◽  
Screening Programme ◽  
Genomic Medicine ◽  
Genetic Research ◽  
Population Based ◽  
Clinical Genetic ◽  
Screening Programs ◽  
Increased Risk ◽  
The Uk

ABSTRACTAn increasing number of diseases can be offered treatments that are transformative if administered in a timely manner. However, many of these diseases are currently not included in the newborn screening programs because they lack sensitive and specific metabolic biomarkers, and detection of children at increased risk relies on genetic methods. Type 1 diabetes (T1D) constitutes a potential example of such disease.Between April 2018 and November 2020, over 15500 babies were enrolled into ‘INGR1D’ (Investigating Genetic Risk for T1D), a research study to identify newborns with an increased genetic risk of T1D. This project, performed as part of a T1D primary prevention study (the Primary Oral Insulin Trial, POInT), has helped to pioneer the integration of genetic screening into the NHS Newborn Blood Spot Screening Programme (NBSSP) for consenting mothers, without affecting the screening pathway. The use of prospective consent to perform personalised genetic testing on samples obtained through the routine NBSSP represents a novel mechanism for clinical genetic research in the UK and provides a model for further population based genetic studies in the newborn.This project builds on the UK’s role as a world leader in genomic medicine, e.g. through its inception and completion of the 100 000 Genomes Project, and its subsequent ambition to map 5 million further genomes over the next 5 years.Our aim is therefore to describe the methodology used by INGR1D as a way to demonstrate how a successful research and clinical trial tool can be integrated into a national screening programme, with the potential for the tool to be developed to incorporate multiple diseases with genetic markers without altering the screening pathway.

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