UK Genomes Project: Genomics England (BBC News / NHS England / HEE / Nature Genetics)

Summary

A revolution in medicine is in progress at research centres across the UK, based on unlocking the genetic bases of cancer and other diseases. The UK could become a world leader in genetic research, targeted therapies and personalised medicine.

Genomics England is running the four-year “100,000 Genomes Project”. The first genome was sequenced on in May; the project aims to reach 1,000 by the end of this year and 10,000 by late 2015.

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Gallagher, J. (2014). DNA project ‘to make UK world genetic research leader’. London: BBC Health News, August 1st 2014.

See also:

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Genomics England and the 100,000 Genomes Project. London: Genomics England, July 28th 2014.

The Prime Minister announced the £300 million investment towards transforming how diseases are diagnosed and treated:

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Human genome: UK to become world number 1 in DNA testing. London: Prime Minister’s Office / Department of Health / NHS England, August 1st 2014.

Possibly also of interest:

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UK to lead the world in the fight against cancer and rare diseases. London [Online]: NHS England, August 1st 2014.

and:

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Genomics programme will make NHS a world leader. London [Online]: NHS England, August 1st 2014.

The Chief Scientific Officer’s July 2014 bulletin mentions the 100,000 Genome Project at some length:

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Chief Scientific Officer bulletin: July 2014. London: NHS England, August 1st 2014.

Possibly also of interest, the PHG Foundation is an independent health policy think-tank having a special focus on genomics:

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Genomics and policy news monthly round-up: July 2014. Cambridge: PHG Foundation, July 29th 2014.

NHS England Genomic Medicine Centres Selection Prospectus

NHS England has a formal process to identify and select the Genomic Medicine Centres which will participate in the national 100,000 Genome Project. Selection is to take place during the summer, and the first patients will be recruited in January 2015.

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NHS England has issued Invitation to Tender (ITT) Stage 1 documentation. London: NHS England, July 28th 2014.

This relates to:

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Invitation to tender. Stage one: pre-qualification. NHS genomic medicine centre selection. NHS Genomic Medicine Centres – ITT Stage 1. Leeds: NHS England, July 28th 2014.

See also:

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NHS England publishes a NHS Genomic Medicine Centre Selection Prospectus. London: NHS England, July 3rd 2014.

This relates to:

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100,000 Genome Project: NHS Genomic Medicine Centres Selection Prospectus. Leeds: NHS England, July 3rd 2014. Gateway Reference No. 016490.

The resulting announcement:

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NHS Genomic Medicine Centres announced for 100,000 Genomes Project. London: Genomics England, December 22nd 2014.

Preparing the NHS Workforce

Health Education England has released a video, entitled “Introducing Genomics in Healthcare”, presented by science broadcaster Viv Parry OBE, which explains how genomics is about to transform diagnosis, treatment and care.

“The genomics revolution is critical to the personalisation of healthcare, the prediction of disease, and the prevention of disease”.

Professor Ian Cumming OBE, HEE Chief Executive

Read more and view the video: Health Education England: Genomics Education Programme.

Reference

Genomics Education Programme. [Online]: Health Education England, October 2014.

Health Education England has launched the Genomics Education Programme website.

Breast Cancer

Researchers at the Sanger Institute in Cambridge have announced a historic understanding of the 93 genetic changes (“mutational signatures”) behind twelve different types of breast cancer:

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Reference

Gallagher, J. (2016). Breast cancer: scientists hail ‘milestone’ genetic find. London: BBC Health News, May 1st 2016.

Housekeeping Proteins in Testes (Human Protein Atlas)

Researchers at the Royal Institute of Technology in Sweden, working on the Human Protein Atlas, have pronounced the testes to be the most distinct human tissue type, requiring an elaborate suite of housekeeping proteins to function. This discovery may be a foundation for future scientific research (including neurological research) and the future development of new drugs.

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Reference

Gallagher, J. (2014). Testes ‘most distinct human tissue’. London: BBC Health News, November 8th 2014.

Crispr

Astra Zeneca is pursuing a research programme to develop medicines using an emerging technique called “Crispr”. This involves snipping-out disease-specific genes in order to discover drugs which might treat the genetic causes behind various debilitating conditions.

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Reference

Ghosh, P. (2015). Astra Zeneca drive to develop drugs from genome project. London: BBC Health News, January 29th 2015.

Crispr gene-editing could help make pig organs suitable for use in people and address shortage of human donor organs in future.

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Reference

Roberts, M. (2015). ‘GM could make pig organs for humans’. London: BBC Health News, October 12th 2015.

Crossing a Line?

Dr Francis Collins, director of the National Institutes of Health in the USA, has said that modifying the DNA of embryos is a “line which should not be crossed” given the serious and unquantifiable safety issues, and the ethical issues, involved.

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Gallagher, J. (2015). US ‘will not fund research for modifying embryo DNA’. London: BBC Health News, April 30th 2015.

A contrary view (see also the Hinxton Group position, below):

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Gallagher, J. (2015). Embryo engineering a moral duty, says top scientist. London: BBC Health News, May 13th 2015.

Hinxton Group on Human Germline Editing

The international Hinxton Group of researchers has released a report which asserts that genetic modification by means of genome editing in early stage human embryos offers great potential for research (and practical disease-modifying applications) and should be allowed.

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Reference

Gallagher, J. (2015). GM embryos ‘essential’, says report. London: BBC Health News, September 10th 2015.

Researchers at the Francis Crick Institute in London have sought permission to modify human embryos genetically.

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Reference

Scientists seek permission to genetically modify embryos. London: BBC Health News, September 18th 2015.

In Utero Stem Cell Therapy

The first clinical trial involving injection of foetal stem cells into babies while in the womb:

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Reference

Gallagher, J. (2015). First ‘in womb’ stem cell trial to begin. London: BBC Health News, October 12th 2015.

Icelandic Large-Scale Whole-Genome Sequencing

deCODE Genetics have mapped the genetic code of the Icelandic population.

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Reference

Gallagher, J. (2015). DNA of ‘an entire nation’ assessed. London: BBC Health News, March 26th 2015.

This relates to:

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Gudbjartsson, DF. Helgason, H. [and] Gudjonsson, SA. [et al] (2015). Large-scale whole-genome sequencing of the Icelandic population. Nature Genetics. March 25th 2015. [Epub ahead of print]. (Click here to view the PubMed abstract).

Super-Computing to Assist Diagnosis

Fourteen hospitals in the US and Canada are to use the services of IBM Watson Health to assist in more rapid decision-making in cancer diagnosis and care.

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IBM’s Watson supercomputer to speed up cancer care. London: BBC Technology News / BBC Health News, May 6th 2015.

Personalised Medicine Strategy (NHS England)

Sir Bruce Keogh has outlined NHS England’s strategy for personalised medicine.

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Gearing up for one of the most fundamental changes in NHS history. London: NHS England, September 24th 2015.

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Bringing new hope to people with genetic diseases – Peter Grainger. London: NHS England, September 24th 2015.

See also:

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Taking a more personalised approach to diagnosis and care – Professor Sue Hill. London: NHS England, September 24th 2015.

This relates to:

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Personalised Medicine Strategy – Sir Bruce Keogh, National Medical Director. London: NHS England, September 18th 2015.

Gene-Editing Medicine: Late 2015 / Early 2016 Updates

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Gallagher, J. (2015). Dawn of gene-editing medicine? London: BBC Health News, November 6th 2015.

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Walsh, F. (2015). The promise of gene editing. London: BBC Health News, December 1st 2015.

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Roberts, M. (2015). Safer way to do gene editing. London: BBC Health News, December 1st 2015.

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Roberts, M. (2015). Gene editing: Is era of designer humans getting closer? London: BBC Health News, December 3rd 2015.

This broad topic was featured in a review of significant developments during the year 2015:

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Gallagher, J. (2015). Breakthroughs galore: a transformative year in medicine. London: BBC Health News, December 28th 2015.

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Walsh, F. (2016). Gene editing treats disease in mice. London: BBC Health News, January 1st 2016.

August 2017 Update

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Reference

Gallagher, J. (2017). Human embryos edited to stop disease. London: BBC Health News, August 2nd 2017.

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About Dementia and Elderly Care News

Dementia and Elderly Care News. Wolverhampton Medical Institute: WMI. (jh)
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