P.O.R.T Supporting the 100,000 Genomes Project

P.O.R.T is very pleased to announce that we are supporting the recruitment of patients with CIPO onto the 100,000 Genomes Project. This page will tell you a little bit about what the 100KGP is, what it does and what patients are eligible.

The 100,000 Genomes Project 

What is the 100,000 Genomes Project? 

This Project aims to sequence 100,000 whole genomes from NHS patients (and their relatives), to help patients, to put genomic medicine services in place for the NHS, to do research and to develop new treatments. The Project is run by Genomics England, which is a company owned by the Department of Health.

If you want to know more about the 100,000 Genomes Project, head over to the Genomics England website – click here.

What is a genome? 

Your genome or genetic code is your body’s instruction manual containing the information needed to make you, run you and repair you. It’s made of DNA, which can be read letter by letter using a technique called sequencing.

Looking at the genome of a person affected by a rare disease can help find which DNA changes might be causing the problem. This can be especially helpful when you can also compare that person’s genome with the genomes of some of their blood relatives.

For people with cancer, the cancer cells have developed a different genome to the healthy cells. Comparing the two genomes may give clues about possible ways to treat the cancer.

Putting together information about your genome with details of your illness or condition (your health data) and then analysing it, may give your medical team helpful information about your condition.

For more information about what a genome is, go to the Genomics England website page on genomes – click here.

Who can take part? 

There are several separate parts of the Project, and different people will be able to join these:

  • Those with a rare disease, and often some of their blood relatives
  • Those with certain cancers
  • Those who have had a severe reaction to an infection

You may also be reading this because you are the parent of a child who could join the Project, or if you have been asked to represent a person affected by a rare disease or cancer.

To find out more about taking part in the 100,000 Genomes Project, head over to the dedicated page on the Genomics England website – click here.

Chronic Intestinal Pseudo Obstruction 

Chronic Intestinal Pseudo Obstruction is a debilitating condition affecting the digestive system, most often affecting the small bowel but can affect the whole gastrointestinal tract from mouth to bottom. It causes symptoms including constipation and/or diarrhoea, vomiting, abdominal distension, nausea and abdominal pain, which can be hard to manage. Currently, the underlying basis of Chronic Intestinal Pseudo Obstruction is unknown.

In 2017, Chronic Intestinal Pseudo Obstruction (CIPO) was added to the 100,000 Genomes Project Rare Disease list. It was added by Professor Charles Knowles, a consultant colorectal surgeon with expertise in treating patients with the condition.

The 100,000 Genomes Project involves sequencing the entire genome of the person as well as collecting information about the way the condition affects the person, which is your phenotype. Sequencing a genome and looking for mutations that cause a condition is likened to finding a single spelling mistake in a library full of books. Sequencing the genome allows scientists to read the genetic code of the person and can identify genes which are defective or faulty. Your genome may be compared to a blood relative (or more than one relative) to see what genes are different to your relative’s or whether you share a gene mutation.

As the research aspect of the project progresses, it may be that genome will be compared to other people with the same condition to see if you share the same faulty gene. It could be that a few different mutations can cause the same condition. Comparing genomes allows us to see common mutations and even to understand different forms or subtypes of the same condition and whether the different mutations cause a different symptom group or result in a distinct presentation.

Chronic Intestinal Pseudo Obstruction being added to the 100,000 Genomes Project is very exciting as it could help us understand the underlying genetic basis of the condition, which could have more than one cause. This, we hope, will lead to better targets for research, easier diagnosis, potential treatments and even a cure in future. If we know the underlying genetic basis of CIPO, we can then start to understand how the mutated gene causes the condition and how the underlying pathway that has gone wrong leads to the condition and its debilitating symptoms.

Pseudo Obstruction Research Trust and the 100,000 Genomes Project

The Pseudo Obstruction Research Trust is supporting the recruitment of patients with Chronic Intestinal Pseudo Obstruction onto the 100,000 Genomes Project as we feel this would be an enormous advancement in the field of researching, understanding and managing the condition, in line with the charity’s aims and its dedication to people with Chronic Intestinal Pseudo Obstruction.

The Pseudo Obstruction Research Trust is a charity formed in 2006 by Sue Stewart and Sonia Frost in memory of Emily Jasmine Frost who passed away from complications of CIPO in 2005, aged only two. P.O.R.T has funded more than £400,000 of research so far and is committed to funding more research towards understanding the condition, developing treatments for CIPO and even a cure. We also support people with the condition and their families and friends.

I have Chronic Intestinal Pseudo Obstruction.

How can I be involved? 

Not all patients with CIPO will be able to be on the 100,000 Genomes Project. Patients must meet the following criteria in order to be recruited at this time.

In order to be recruited, patients must suffer from:

  • Early-onset Chronic Intestinal Pseudo Obstruction; or
  • Familial Chronic Intestinal Pseudo Obstruction.

What does that mean? 

Early-onset means that it was present from birth or developed within the first year of life.

Familial means that more than one member of the family is affected by the condition, suggesting a strong genetic basis as it has been passed down generations of a family and has affected multiple family members. The affected family member(s) must be first degree relative, which means parents, children and siblings, or second degree relative, for example aunts, uncles, grandparents and grandchildren.

What is involved? 

If you consent to take part, you will need to agree to:

  • Give samples of your blood.
  • Allow information about your health, including scans and other test results (your health data) to be sent to Genomics England to help in the analysis of your condition.
  • Allow your genome sequence data and your health data to be linked to relevant parts of your medical records, including information about your health in the future.
  • Agree to be contacted in the future by your clinical team and by Genomics England.

When you are recruited, you will go through the consenting process where everything will be explained to you and you will sign the forms to consent to the process. Your consultant will complete your phenotype and send off medical information about you. Then a professional will take blood samples from you and one or two relatives. Your relatives may be able to have blood taken at a different time if they cannot be there with you on the day.

This process may be able to take place whilst you are at the hospital for a routine appointment, or you may need to make a trip to the hospital specifically for the recruitment process to take place. In this case, P.O.R.T will support you financially with the cost of the additional trip to hospital. 

To find out more about participating, head over to the “Taking part in the 100,000 Genomes Project” page on the Genomics England website – click here.

What results could I get?

  • Have results about your main condition fed back to you

This may take many months. Results might not be back in time to affect any treatment you may need. There is a chance your ‘result’ might not contain any helpful information. However we will continue to work on your genome, as long as you let us. If we find anything we think is important we will always tell your clinical team.

  • Decide what you feel about Genomics England looking for ‘additional’ conditions 

Examining your genome can identify some serious but potentially treatable genetic conditions such as rare cancers or heart disease. Most people won’t have them, but if you are the sort of person who would like to know if we find something, we can tell you. We’re still learning how to use the information in your genome, so what we think is important now may change, and we won’t be able to spot everything now. If you are the sort of person who doesn’t want to know, Genomics England won’t look.

  • If you might have a baby in the future, decide what you feel about ‘carrier testing’ 

You will be offered a test to look for conditions that don’t affect you, but which might be a problem for your baby if you were found to be carrying them in your genome. This is called carrier testing.

Involving your family 

If there is a finding which might have implications for other members of your family, the NHS will support you to tell them about it and will offer them any tests, advice or treatment they need.

What if I agree and then decide I don’t want to be in the project any more? 

You can withdraw from the Project at any time. This will not affect your care in any way.

Use of your data 

If you consent to take part, you will need to agree that:

• Researchers and organisations approved by Genomics England can look at your data in a way which protects your identity, including for-profit healthcare companies like those developing medicines or diagnostic tests.

Who looks at my data and why? 

Your sequence data and your health data are sent to the Genomics England data centre by a secure NHS system. The data centre is within a high security site. The data will be de-identified (that’s where everything that might identity you has been removed) and stored in the Genomics England data centre along with data from tens of thousands of other people. Approved researchers can then look at the de-identified data, but they can’t take any of it away.

Your data can still be linked back to your name and date of birth by the Genomics England Project team, in order to provide a clinical report which may guide your care. If anything is found which could be useful for your care, even if it years in the future, this information will be passed to your clinical team so they can tell you about it.

Comparing data from many people can give new understanding about the cause of a disease and how to treat it. Drugs have never been developed by the NHS – this is done by for-profit companies. This means that companies that make drugs or diagnostic tests need to use the data, because without this patients won’t get the new medicines and treatments they need. Agreements will be put in place to make sure that the NHS receives some benefit from successful discoveries.

What about my privacy? 

We make it as hard as possible to identify you from your data, but we can’t rule it out. Trying to find out who data belongs to is illegal and could lead to a prison sentence. Genomics England monitors and records everything scientists do with the data, so re-identification is very unlikely.

Would you like to know more about your data and who has access to it? This page on the Genomics England website explains who has access to your data and why – click here.

I want to know more:

To find out more about the 100,000 Genomes Project generally, head to the Genomics England website: www.genomicsengland.co.uk


The 100,000 Genomes Project will create a legacy for generations to come.