Screening and Diagnosis of Familial Hypercholesterolemia by NGS.
Research type
Research Study
Full title
Application of next generation sequencing to aid effective diagnosis in adult patients with familial hypercholesterolaemia.
IRAS ID
141438
Contact name
Elizabeth Hodges
Contact email
Sponsor organisation
University Hospital Southampton.
Duration of Study in the UK
5 years, 0 months, 7 days
Research summary
Familial Hypercholesterolaemia (FH) is an autosomal dominant inherited condition characterised by increased blood plasma cholesterol levels. Increased plasma cholesterol levels results in its deposition in peripheral tissues which leads to accelerated atherosclerosis and if untreated can lead to early cardiovascular death. Men are at almost 50% risk of fatal or non-fatal CHD by the age of 50, while the risk is slightly lower in women, at risk of almost 30% by the age of 60. FH is predominantly caused by mutations in three main genes Low Density Lipoprotein Receptor (LDLR), Apolipoprotein B (APO B), and Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9). \nIn the last few years, the scientific community has witnessed the evolution of next generation sequencing (NGS) and its potential applications in the world of diagnosis. NGS presents a huge opportunity to the scientific and diagnostic community to study and diagnose diseases at molecular levels which were once unthinkable. This proof of principle study aims to evaluate the possible implementation of next generation sequencing methodology for genetic screening of FH. The research will also allow us to study the cost and time involved in sending the samples to a reference lab for FH analysis. The future for NGS is highly promising and its use in routine diagnostic molecular laboratories in University Hospital Southampton (UHS) can also be expanded into the diagnosis and study of cancer genomes and epigenetic changes. NGS technology in molecular pathology would be of tangible benefit to the patients as it will allow the clinicians to tailor appropriate management strategies in a timely manner.\nAll patient details will be confidential, fully anonymised, and will be stored in secure, password protected NHS computer and will be accessed only by the members of the study team.\n
REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
16/NW/0215
Date of REC Opinion
12 Apr 2016
REC opinion
Further Information Favourable Opinion