Diagnostic Tests

Genome England Project

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100,000 Genomes Project

About Genomics England

Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy, through the sequencing of 100,000 genomes.

Genomics England was set up to deliver the 100,000 Genomes Project.

This flagship project will sequence 100,000 whole genomes from NHS patients with rare diseases, and their families, as well as patients with common cancers.

Our aims

  • To bring benefit to patients
  • To create an ethical and transparent programme based on consent
  • To enable new scientific discovery and medical insights
  • To kickstart the development of a UK genomics industry

Our history

Genomics England was announced by Jeremy Hunt, Secretary of State for Health and Social Care, as part of the NHS 65th birthday celebrations on 5 July 2013.

Jeremy Hunt

Secretary of State for Health,
Rt Hon Jeremy Hunt MP

He said: “The NHS has a long track record as a leader in medical science advances and it must continue to push the boundaries by unlocking the power of DNA data.

“The UK will become the first ever country to introduce this technology in its mainstream health system – leading the global race for better tests, better drugs and above all better, more personalised care to save lives.

“Genomics England will provide the investment and leadership needed to dramatically increase the use of this technology and drive down costs.”

Genomics England will be efficient, flexible, and able to move quickly as the market changes. It will contract with others for most of its needs including sample collection, analysis and data storage but crucially, it will maintain clear responsibility for data protection.

Genomics England will manage contracts for specialist UK-based companies, universities and hospitals to supply services on sequencing, data linkage and analysis. It will also strictly manage secure storage of personal data in accordance with existing NHS rules designed to securely protect patient information.

This project represents a great opportunity to translate our world class genomic science into world leadership in genomic medicine.

Genomics England is funded by the Department of Health & Social Care in the medium term, and any surplus will be invested back into improving health. It is chaired by Sir John Chisholm, former chair of the Medical Research Council.

Sir John said:

“This project represents a great opportunity to translate our world class genomic science into world leadership in genomic medicine. Genomics England will create a dataset of anonymised whole genome sequences matched with clinical data at a scale unique in the world.

“Participating patients will have the opportunity to benefit from clinical insights derived from the sequencing of their genome while at the same time contributing to knowledge which will be valuable to the whole patient community. It is from that knowledge that world leading therapeutic products and processes will become available to all patients.”

It is estimated that one in seventeen people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases of rare diseases being identified in children. However, it can take considerable time and expense between a patient first presenting at a doctors and receiving an accurate diagnosis. The time taken to sequence a whole human genome has been dramatically reduced and will become more affordable for routine use as the price continues to fall.

Professor Dame Sally Davies, Chief Medical Officer

Professor Dame Sally Davies,
Chief Medical Officer

Chief Medical Officer Professor Dame Sally Davies said:

“By putting firm foundations in place through Genomics England, this technology will let us make ground-breaking discoveries about how diseases work, who could be susceptible to them, how we can treat them, and what treatments might work.

“Earlier diagnoses will help to reduce uncertainty and stress for patients and families involved.”

Professor Mark Caulfield is the chief scientist for the company. Mark is a NIHR Senior Investigator at the Queen Mary University of London and the Barts National Institute for Health Research Biomedical Research Unit.

 

 

Home Oxygen Therapy

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Oxygen Therapy Instruction

Your body needs a certain amount of oxygen for its organs to function properly. But as idiopathic pulmonary fibrosis (IPF) progresses, the fibrosis prevents enough oxygen from being transferred into your bloodstream. This is why your doctor may prescribe supplemental therapy as part of your care.

Many IPF experts believe that all people with IPF should be evaluated to see whether oxygen therapy can help them improve their low oxy-gen levels. Low oxy-gen levels may occur during exercise, during sleep, or may be present when the person is at rest. When they occur will affect how often you need to use it. Oxygen therapy has been demonstrated to be helpful to patients who have low SpO2 levels across a variety of serious lung conditions. Even though the data supporting its use are limited, current medical guidelines recommend using oxygen therapy in appropriate patients with IPF.

Your doctor will use tests, such as an arterial blood gas test and a pulse oximetry test, to determine whether you need oxy-gen therapy and, if so, how often and how much. These tests measure how much SpO2is in your blood. A low level of SpO2is a sign that you need oxy-gen therapy.

Your body needs a certain amount of oxygen for its organs to function properly. But as idiopathic pulmonary fibrosis (IPF) progresses, the fibrosis prevents enough oxy-gen from being transferred into your bloodstream. This is why your doctor may prescribe supplemental oxy-gen therapy as part of your care. (Learn how your lungs work.)

Many IPF experts believe that all people with IPF should be evaluated to see whether oxygen therapy can help them improve their low oxy-gen levels. Low oxy-gen levels may occur during exercise, during sleep, or may be present when the person is at rest. When they occur will affect how often you need to use oxy-gen. Oxygen therapy has been demonstrated to be helpful to patients who have low oxygen levels across a variety of serious lung conditions. Even though the data supporting its use are limited, current medical guidelines recommend using oxy-gen therapy in appropriate patients with IPF.

Your doctor will use tests, such as an arterial blood gas test and a pulse oximetry test, to determine whether you need oxygen therapy and, if so, how often and how much. These tests measure how much oxy-gen is in your blood. A low SpO2 level is a sign that you need oxygen therapy.

How Oxygen Is Delivered

Oxygen therapy is provided in a metal cylinder or other container. It flows through a tube and is delivered to your lungs in one of the following ways:

Oxygen Therapy Tank
Nasal cannula Two small plastic tubes, or prongs, that fit within both of your nostrils
Face mask Fits over your nose and mouth and straps onto your head
Transtracheal (“tranz-TRAY-kee-ul”) oxygen therapy A minor surgical procedure is performed to insert a small tube into your windpipe through the front of your neck

This is the least common form of oxy-gen therapy

Your doctor will work with you to determine which type of oxy-gen delivery device you should use, as well as how much oxygen you need and how often.

The Possible Benefits and Risks

The use of supplemental oxy-gen in people with IPF who have low oxy-gen levels at rest has been shown to:

  • Reduce general breathlessness
  • Sustain their ability to perform activities (such as exercise) that may be part of a pulmonary rehabilitation program
  • Possibly maintain their ability to take part in daily activities in preparation for a lung transplant

In addition to reducing breathlessness, in studies of people using oxy-gen therapy to treat COPD, patients reported that it improved their ability to perform everyday activities such as cleaning, reading, and shaving.

However, it’s important to note that there are a number of risks that come along with using ox-ygen therapy, including a number of possible complications and side effects, such as:

  • Dry or bloody nose
  • Skin irritation from the nasal cannula or face mask
  • Fatigue or morning headaches

Tell your doctor if these problems persist. Your doctor may be able to help relieve some or all of these issues.

If you start using home oxy-gen therapy, you should ask your home equipment provider to give you a complete list of safety steps you’ll need to follow.

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