Month: October 2017

British Heart Foundation Chief Executive joins the 100,000 Genomes Project

The British Heart Foundation‘s Chief Executive, Simon Gillespie, has recently become a 100,000 Genomes Project participant as a result of his inherited, and unexplained, high cholesterol. He has been speaking about his motivation and expectations this week.

Simon (left) during his initial consultation at Guy’s Hospital, where he was recruited to the Project by Professor Anthony Wierzbicki (not pictured) – image from BHF

Video by the British Heart Foundation

Our Chief Scientist, Professor Mark Caulfield, is a cardiovascular genomics researcher and co-director of the William Harvey Research Institute who has received funding from the BHF for much of his career. He knows better than most that the huge medical potential of the project is matched only by the scale of the task at hand.

The sequencing facility reads through each of the 3.2 billion letters that make up your genome. We read through it looking at the different parts of the genome to see if you carry susceptibility to the disorder that you’ve been enrolled against. Reading through that very carefully we can find answers for around a quarter of the participants in the 100,000 genomes project.

The potential of genomics is endless, leading to more precise diagnostics for earlier diagnosis, new medical devices, faster clinical trials, new drugs and treatments and potentially, in time, new cures. But a more immediate impact will be a long-awaited diagnosis for some participants, enabling their clinicians to make more informed decisions about patient care.
As Professor Caulfield explains:

We get a comprehensive picture of your or my genetic code and that gives us the best chance of getting answers for patients.

Rare cardiovascular conditions are among over 200 disorders that are currently included in the 100,000 Genomes Project. If you have a rare disease or cancer in your family and are interested in taking part, you can find more information here.

With thanks to Simon Gillespie and the BHF.

Genomics England partners with Inivata and Thermo Fisher Scientific

Genomics England partners with Inivata and Thermo Fisher Scientific to unlock the genomic secrets of blood plasma – and improve our understanding of cancer

Genomics England has announced today a new industry collaboration with leading life sciences companies Inivata and Thermo Fisher Scientific to improve understanding of cancer. The pilot project aims to assess the quality of blood plasma samples and explore the potential of liquid biopsy testing to improve disease management and patient outcomes.

Genomics England’s industry partnership is the first step in a larger three-phase pilot that aims to: evaluate the suitability of plasma samples for whole genome sequencing (WGS); assess the technologies available; and provide a proof of concept study using longitudinal samples (samples observed over a long period of time).

This first phase will see Inivata and Thermo Fisher Scientific analyse around 500 plasma samples donated by participants in Genomics England’s 100,000 Genomes Project. As well as determining the suitability of plasma, the study will focus on the use of liquid biopsy technologies to discover the mutations in the human genome that can lead to or demonstrate the presence of cancer.

Genomics England will share results with researchers in the UK and around the world − with the potential to develop less invasive sample collection techniques, more effective monitoring processes and, ultimately, better cancer care.

Joanne Hackett, Chief Commercial Officer at Genomics England, said,

Genomics England aims to translate the UK’s pioneering genomic research into routine care as quickly as possible − cutting the time it takes to turn a groundbreaking discovery into the diagnostics, treatments and medicines that patients need. Our partnership with Inivata and Thermo Fisher Scientific harnesses the expertise of two of the world’s leading genomics companies and will help us to achieve this hugely important goal.

Michael Stocum, Chief Executive Officer of Inivata, said, “As a company with a strong UK heritage, we are delighted to have partnered with the 100,000 Genomes Project − a world-leading initiative which is committed to keeping the UK at the forefront of medical innovation and care. This pilot study will enable us to combine our efforts through the sharing of insights and the assessment of how liquid biopsy products could ultimately transform cancer care within the NHS, saving lives and money.”

Joydeep Goswami, President of Clinical Next Generation Sequencing and Oncology of Thermo Fisher Scientific, said, “We are honoured for the opportunity to work alongside Genomics England in this important effort to better understand cancer using liquid biopsy. We are encouraged by this and other efforts across the globe, such as the Blood Profiling Atlas in Cancer Consortium, that are focused on advancing new testing approaches to help drive better health outcomes in the future.”

Helping apprentices lead the field in big data

Anglia Ruskin and Wellcome Trust Sanger Institute team up to deliver new training

Anglia Ruskin University and the Wellcome Trust Sanger Institute have received funding from the Higher Education Funding Council for England (HEFCE) to launch a new degree apprenticeship in Data Science in September 2018.

Anglia Ruskin has been supported in its application by several global companies involved in genetics and computational biology, including Genomics England, as well as Congenica, Eagle Genomics, GlaxoSmithKline, Global Gene Corp, SciBite, and Specific Techologies.

The emergence of big data and its use in biological research has led to a growing need for skilled professionals who can analyse and interpret biological data.
Genomics in particular is a growth industry, with Deloitte reporting that the industry will grow by 20% this year. The degree apprenticeship aims to enable employers to provide in-work training for their employees, improving their skills base and helping to address the shortage of skilled professionals in the “big data” sector.

Dr Augusto Rendon, Director of Bioinformatics here at Genomics England, said:

There is a clear industry and academic need for developing the talent pool of data scientists and bioinformaticians… A key benefit of a degree structured in this way is that it increases the breadth of potential applicants rather than relying on the traditional route of a masters qualification for biology or quantitative science graduates.

The students on this programme will acquire a greater depth of knowledge in areas such as genetics, genomics, coding and data analysis; providing a sound platform for a career in the bioinformatics field.

Janet Scotcher, Director of Human Resources and Organisational Development at the Sanger Institute, said:

This area of work is a relatively new occupation and as such, may not be visible to many young people at the beginning of their careers. Already we are seeing a skills shortage in this important area, despite being acutely aware that genomics and biodata offer an incredibly diverse and promising career path for anyone.

We hope this apprenticeship will help people in search of a rewarding career find an inspiring and fulfilling future.”

For further information, contact

Wellcome Trust Sanger Institute

The Wellcome Trust Sanger Institute is one of the world’s leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease.

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