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How does gene testing prevent cancer occurring?

In previous videos, professor Nazneen Rahman explained how mutations in BRCA1 and BRCA2 can cause cancer, and how we are making gene testing easier for cancer patients. But gene testing can also prevent cancer from occurring in the first place. Find out how in this video:

Video transcript:

One of the best things about genetic testing is that it provides an opportunity to prevent cancers from occurring in the first place. Relatives of women with mutations can choose to have a test if they want.

If they don’t have the mutation, then they’re not at increased risk of cancer, and they don’t need any extra screening or any surgery.

If they do have a mutation, obviously that’s less good news, but they have that information before they’ve got cancer, and that gives them options. They can choose to have extra surveillance, or they can choose to have surgery to remove the tissue, so they don’t get cancer in the first place.

You can prevent thousands of cancers in this way. In theory, all BRCA-related cancer is preventable.


How can we make gene testing easier for cancer patients?

A few weeks ago, we posted a video in which professor Nazneen Rahman explained how mutations in the BRCA1 and BRCA2 genes lead to cancer. In the following two videos, she describes how new technology makes it easier to test whether someone has a genetic mutation,  and how our new streamlined pathway makes it easier to get access to gene testing. (See all videos together on YouTube).

 

Why is gene testing easier now?

Video transcript:

On the one hand, gene testing is very easy, because all we need is a blood sample. On the other hand, gene testing is very difficult, because it’s like looking for one spelling mistake in a really long novel. It used to be really slow and really expensive to do gene testing, because we had to read through the whole gene, letter by letter, word by word.

But now we have new machines, that can cut up the gene into segments and read them all at the same time. And that means that gene testing is now really fast, and much, much cheaper.

How can we make gene testing easier for cancer patients?

Video transcript:

We’re working very hard to try to make gene testing available to all cancer patients. The new machines make the gene testing very quick and affordable, but there was a second problem. Traditionally, it has been hard for cancer patients to access gene testing. They had to go to a special gene testing service, often in a different hospital, that was another appointment. They’d have the appointment for the test, then go back for the result, and then finally they’d get back to their cancer clinic. This all took months.

What we have done is to streamline the process, so that women can give a blood test at one of their existing cancer clinic appointments. So we brought the test to the patient, rather than the patient having to chase around to find the test. This is much easier for patients, and also for the cancer team.


How to get genetic testing to breast cancer patients

An interesting paper in JAMA this week revealed that many breast cancer patients in the US want a genetic test, but don’t always get one. If you don’t have access to the original paper, NPR has a good summary.

The study, led by Allison Kurian at Stanford University, noted that many breast cancer patients that met the criteria for testing were never informed about the possibility of a genetic test.

The article also suggests that one of the reasons for this lack of testing is that there is a lack of access to genetic counsellors to support genetic testing of all breast cancer patients, and that cancer clinicians themselves don’t always have the skills and knowledge to be able to direct their patients toward genetic testing.

This is a problem that we have addressed in the UK through our mainstreaming cancer genetics programme. We developed and validated a system whereby members of the cancer team take a short training which then allows them to offer  genetic testing to their patients during one of their regular clinic appointments. If the test shows that they have a BRCA mutation, the patient then gets an appointment with a geneticist. The patient can also ask for a genetics consultation at any other point, if they want to.

Our system gives the cancer team the ability to offer genetic testing to their patients directly, and gives simplified access to genetic testing to cancer patients. It also allows the genetics department to focus their expertise where it is most needed. We published the results of the pilot study last year.

At the Royal Marsden Hospital, BRCA testing is now routinely offered to eligible breast and ovarian cancer patients directly by the cancer team. This means that all eligible women that want testing, get testing. Over 1000 patients have had testing through the new system. Patient feedback of the system has been extremely positive.

Several groups around the world are now offering BRCA gene testing to cancer patients as part of routine cancer clinic appointments. We are in the process of connecting these groups, so please drop us a line if you are involved with a similar testing pathway, or would like to know more.

You can read more about our streamlined genetic testing for breast and ovarian cancer patients through the media links and resources on our website.


How do BRCA1 and BRCA2 mutations cause cancer?

We recently filmed a few short videos about some of the concepts underlying the Mainstreaming Cancer Genetics programme. In the video above, professor Nazneen Rahman explains how mutations in the BRCA1 and BRCA2 genes lead to cancer.

 

Video transcript:

Genes carry the instructions for how the body works. Genes are made up of DNA, and the DNA is written in a code of four letters. You can get changes in those letters, and we all have thousands of those changes, but if you get a critical change at a critical point in a gene, it can stop that gene from working properly.

If you have a critical change in the BRCA2 gene or the BRCA1 gene, it stops those genes from their normal functioning of preventing cancer from occurring, and that makes a person much more likely to get cancer.

It’s not all bad news, though, because we can use those changes, which are called mutations, as a way of targeting those cancer cells with new treatments.

We will post more videos in the coming weeks, or you can view the rest of the playlist on YouTube now.


One thousand cancer patients have had mainstream genetic testing

We first started a pilot to offer gene testing to cancer patients at a cancer clinic appointment in 2013. We are now delighted that the 1000th patient has had BRCA gene testing through this mainstream genetic testing process. Mainstream testing is now fully integrated into routine NHS case at the Royal Marsden hospital.

Historically, cancer patients could only access gene testing if they were first referred to a genetics clinic. The referral criteria were complex and waiting lists for genetic appointments were long. Many cancer patients did not get testing, even if they were eligible for it.

 

Faster testing for more patients

By using new DNA sequencing technology and offering testing through cancer clinic appointments, we were able to greatly increase the number of patients that can benefit from testing, without increasing costs. The Royal Marsden now offers tests to three times as many patients a year, and is able to return test results within 4 weeks compared to 20 weeks in the old system.

Besides informing the best treatment options, test results also provide information about whether hereditary causes of cancer are relevant for a patient’s family members. All women found to have a BRCA mutation have an appointment with the genetics team who coordinate providing information to relatives.

Many relatives choose to have a test to see if they have inherited the mutation. This allows them to make more informed choices and gives opportunities to reduce cancers in women found to be at high risk.

 

What clinicians are saying

 “Having the BRCA test result is very helpful when discussing the surgical options with breast cancer patients. Some women with a BRCA mutation choose to have bilateral mastectomy because their risk of getting a new cancer in either breast is increased. It has been great to be able to quickly and directly arrange for testing at the cancer clinic”

-Fiona MacNeil, Consultant Surgeon at the Royal Marsden and President of the Association of Breast Surgery.

“Having quick, direct access to BRCA testing has allowed us to provide women with more personalised management and more options of clinical trials for newer therapies”.

– Nick Turner, Consultant Oncologist at the Royal Marsden

 

What patients are saying

 “I was very pleased to be offered the BRCA test by the cancer clinic. It was quick and simple, I just gave a blood test and a few weeks later I got the result. It has helped me make decisions and I have been advocating the test to others.”

– A breast cancer patient at the Royal Marsden.

 

What’s next for the MCG?

Over the last year many other centres across the UK and the globe have started to implement mainstream gene testing for the BRCA genes. In 2017 we are starting MCG-International (MCG-I) which aims to facilitate adoption and the sharing of experience and good practice in mainstreaming.

We will provide more information on the new MCG-I section of our website, and in future blogs.

 

For more information on the MCG and our 1000th patient milestone, see our press release


Clinical Nurse Specialists counselling cancer patients

Clinical nurse specialists (CNS’s) play a pivotal role in the care of women receiving treatment for ovarian cancer. As doctors in specialist training rotate through services, CNS’s can frequently be the most consistent face of the care team and often have the best opportunity to develop a good understanding of individual patients’ knowledge about their disease, their concerns for their future health and that of their families.   They are therefore ideally placed to discuss BRCA testing with their patients and provide them with the information necessary to make an informed decision about whether to proceed with such testing.

Natalie Percival (and others’) new paper, published in the BJN, “The integration of BRCA testing into oncology clinics” gives the perspective of clinical nurse specialists and their experience of how a new gene testing pathway for ovarian cancer patients was implemented within their cancer service.  (This innovative, streamlined and patient centric pathway is fully described in our paper published in Scientific Reports, and summarised elegantly by Ed Yong in The Atlantic.)

The BJN paper describes the experience of a pilot programme for implementation of the new care pathway, in which 300 women with ovarian cancer were counselled and consented for BRCA testing, 108 of which were counselled by CNS’s.   All clinicians involved in the programme, including the CNS’s, were required to work through online training modules before they attempted to speak to patients and obtain consent for BRCA testing.  They were also all aware that at any time they could refer patients to the genetic team, should they feel that was necessary.

The CNS’s were surveyed about their experience of this addition to their role and responses were universally positive about:

  • the helpfulness and effectiveness of the training modules,
  • consenting for BRCA testing being appropriate for the role of CNS’s working in cancer care team,
  • the value of BRCA testing for their patients
  • feeling well supported by back-up from the genetics team.

One nurse expressed concern about the additional time required to counsel and obtain consent for gene testing, but the others all felt that they were able to incorporate this even within very busy clinics.

Overall the nurses found discussions about BRCA testing with cancer patients a natural extension of their role and found that they were well placed to deliver the service through the continuity of care they provide and their more extensive knowledge of individual’s personal and family circumstances.

First author on the paper, Natalie Percival, also shares her thoughts in this recent video about the testing pathway.

Providing access to BRCA testing through routine oncology appointments is now standard of care at Royal Marsden Hospital.

The MCG programme hugely appreciates the efforts clinical nurse specialists are making towards the goal of making more genetic testing available for more cancer patients.

CNS


Simplifying access to BRCA gene testing improves treatment and could save lives

Today, the journal Scientific Reports published our article that describes the results of a pilot study in which 207 ovarian cancer patients at The Royal Marsden NHS Foundation Trust were offered a BRCA gene test as part of their regular cancer clinic appointment.

As well as offering a streamlined patient journey, this testing pathway is less resource intensive and, if it was implemented nation-wide, could save the NHS millions of pounds each year. As the article shows, all 207 women who took part in the pilot study accepted the offer of a genetic test, and provided very positive feedback. Within the test group, 32 patients were found to have a BRCA mutation, and became eligible for new precision medicine treatments that are only available to patients with a BRCA mutation.

To be able to offer the genetic test in the cancer clinic, doctors and nurses completed our 30-minute online training module. If a patient was found to have a BRCA mutation, they received an appointment with the genetics team together with their result, so that they could discuss the implications in more detail. In many cases, family members of these patients also saw a geneticist to discuss and decide whether to have a test to see if they had inherited the BRCA mutation. Relatives that have a BRCA mutation have various options available to them to improve early detection or prevention of cancer. Relatives that do not have a BRCA mutation can be spared these.

This pathway is now the standard at The Royal Marsden, and is being adopted at other hospitals in the UK and internationally. If it were implemented across the NHS, the savings in genetic appointments are estimated to save £2.6M per year compared with the current standard process.

In a companion study we found that the new approach to genetic testing was extremely cost-effective. If all 7,000 women diagnosed with epithelial ovarian cancer in the UK each year were offered genetic testing, just a single year’s testing is likely, over time, to prevent hundreds of breast and ovarian cancers and dozens of deaths in their relatives. National implementation for all ovarian cancer patients would cost £4,339 per quality-adjusted life year – far below the £20,000 threshold that is used to decide what tests and treatments the NHS should offer.

Most importantly, patients have been overwhelmingly positive about the new testing pathway, which reduces the number of appointments they need and the time it takes to get the test result.

The Mainstreaming Cancer Genetics programme is very pleased that this work has been so successful and has already helped so many people. We are now working hard to make the new pathway available to all ovarian cancer patients across the country and piloting the model for other cancers.

 

Find out more:


BRCA testing for cancer patients – a new streamlined pathway in practice

Mutations in the cancer predisposition genes, BRCA1 and BRCA2, cause about 15% of ovarian cancer and 4% of breast cancer. Together this is about 2,500 cancers in the UK each year.

Knowing if a cancer is due to a cancer predisposition gene mutation can provide vital information about the cause of the cancer and can aid decisions about the best treatments and drugs to use. It can also help relatives, by identifying those relatives that are at increased risk of cancer and giving a window of opportunity to prevent cancer from occurring in them.

Unfortunately, cancer predisposition gene testing has historically been very restricted due to two types of barriers, testing barriers and access barriers.

The MCG programme is undertaking the multidisciplinary research and implementation required to remove these barriers.

Removing testing barriers

We are now delivering cancer predisposition gene testing faster, cheaper and better than before by harnessing new DNA sequencing technology. To do this, we designed and developed the TruSight Cancer Panel (TSCP) in collaboration with Illumina. TSCP is now in use by many labs and is bringing affordable, accurate cancer predisposition gene testing to cancer patients and their relatives throughout the world.

Removing access barriers

We have developed a streamlined, patient-centred ‘mainstream’ genetic testing pathway for cancer patients that brings testing to the patient, in their routine cancer clinic, but retains the expertise of genetics for the patients that require it. The pathway is 5x faster and requires 13x fewer resources than the traditional pathway. Many units around the world are now adopting the mainstream pathway.

We have implemented TSCP testing and the mainstream pathway at the Royal Marsden hospital to deliver BRCA testing to ovarian cancer and breast cancer patients. The feedback has been very positive.

Watch the video above to hear the experiences of two patients who have gone through the pathway.

 


Getting a BRCA test in the cancer clinic: What do ovarian cancer patients think?

This Sunday, May 8, is World Ovarian Cancer Day – a day to raise awareness about ovarian cancer. It’s a good opportunity to introduce you to two of the ovarian cancer patients who have had genetic testing through our mainstreaming gene testing pathway. This is a patient-centred pathway that brings testing to the patient in the cancer clinic.

Elaine and Carolyn recently visited us at the Institute of Cancer Research, London. They were here to film a video which will be online soon. We gave them a tour of our TGLclinical lab where they saw what happened to the blood sample they had given for BRCA gene testing: First, DNA from the sample is sequenced to generate genetic data, Next, the genetic data is analysed to see if there are mutations. Mutations in the BRCA1 and BRCA2 genes cause 1000 ovarian cancer cases in the UK every year.

While they were at the ICR, we had a chance to talk with them about their cancer and genetic testing experiences.

ElaineElaine’s story

Elaine was diagnosed with ovarian cancer over 10 years ago. At the time, BRCA gene testing was only available to women with a strong family history of cancer, which Elaine does not have. Elaine had major abdominal surgery and chemotherapy, and thankfully has remained well. She now only has annual check-ups. During one of these regular check-ups she was offered genetic testing through our mainstreaming cancer genetics programme, which is working to make gene testing available to any cancer patient that can benefit. Elaine was sure she wanted to have the test and a few weeks later she got the result and an appointment in our genetics clinic. Elaine has a BRCA2 mutation which caused her ovarian cancer.  If she were to have any further trouble from ovarian cancer, this information will help decide the best treatment for her. The mutation also puts her at higher risk of breast cancer and so she is now having extra breast cancer surveillance. She has been discussing her options with genetics and is considering whether to have mastectomy to reduce her risk of breast cancer.

“Having the BRCA2 gene mutation and knowing about it means that I can now move forward.”

CarolynCarolyn’s story

When Carolyn was diagnosed with breast cancer many years ago, genetic testing wasn’t available to her, even though her mother had also had breast cancer. Fourteen years later she was diagnosed with ovarian cancer and was offered testing at one of her cancer clinic visits through the mainstreaming pathway. She discussed it with the nurse, read the information sheet and was clear she wanted the test. A few weeks later she found out she has a BRCA1 mutation.

 “I was pleased to have the information,” Carolyn said, “to realise why we had so much cancer in the family.”

The information has helped her treatment too. Carolyn has been treated with a PARP inhibitor, olaparib, which specifically targets ovarian cancers due to BRCA mutations. Without the genetic testing she would not have been eligible for this treatment, which is working very well for her. Carolyn was also very pleased to be able to give the information to her two daughters, who have been able to get much better information about their own risk of cancer, now that the cause of cancer in the family is known.

 

Ovarian cancer patients want access to BRCA testing

These stories illustrate the value ovarian cancer patients place on genetic testing. The test result helps patients and doctors decide on the best treatment. It also provides family members with better information about their cancer risk and can help them to prevent getting cancer in the first place.

The patient-centred pathway we have developed helps to ensure all eligible patients are offered testing and makes accessing testing much easier. Hundreds of patients at the Royal Marsden Hospital have now had testing through the pathway and their feedback has been overwhelmingly supportive. Like Elaine and Carolyn, they feel testing empowers them with information that helps them make decisions.

You can find out more about the pathway here. Many other centres in the UK are now adopting it. We also have research papers coming out soon that give more details about how we developed and validated the mainstreaming genetic testing pathway for ovarian cancer patients.

Video coming soon!

Finally, you’ll be able to see more of Elaine and Carolyn in a short film that will be online soon. Keep an eye on our website and Twitter account, or sign up to our mailing list and we will keep you posted with everything we are doing to help treat and prevent cancer.

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Find out more


World Ovarian Cancer Day (WOCD) 2015: Increasing access to gene testing for women with ovarian cancer

Today is the third official World Ovarian Cancer Day (WOCD). WOCD began in 2013 to unite ovarian cancer organisations from around the world to educate their communities about ovarian cancer.

On this day last year, we posted a news item describing why improving access to gene testing for all women affected with ovarian cancer was a key focus of the Mainstreaming Cancer Genetics (MCG) programme. You can read that post here.

Significant progress has been made in the last 12 months.

This time last year, 125 women with ovarian cancer had benefitted from BRCA1 and BRCA2 gene testing through the programme’s ‘mainstream’ model of gene testing, where testing is carried out through existing oncology appointments, rather than separate appointments with genetics teams. This is faster, cheaper and more patient-centred.

One year later, 300 women with ovarian cancer have now benefited at the Royal Marsden Hospital.

A survey of some of these women found that:

  • 99% (104/105) were pleased they had the genetic test
  • 97% (102/105) were happy to have testing through oncology

For many of these women, the result of their BRCA1 and BRCA2 gene test had a direct impact on their immediate cancer management. The results of gene tests can provide information that helps doctors provide the best possible management for the patient. This could mean choosing the most appropriate surgery, optimised screening, or selecting the best drugs to use.

Importantly, the benefits of providing mainstream testing for women with ovarian cancer are now far more widely recognised:

  • In the UK a number of NHS gene testing services are implementing their own mainstream gene testing models, with some utilising the resources developed by the programme, which are freely available on our website.
  • An international study has been initiated by AstraZeneca, which is trialling the mainstream model developed by the MCG programme in the United States, Spain and Italy.

Access to gene testing for women with ovarian cancer has made significant progress In the UK and overseas since WOCD last year, but much more still needs to be done to ensure that more people can benefit, and that all women with ovarian cancer have access to BRCA1 and BRCA2 gene testing.