A genetic counsellor’s view of mainstreaming cancer genetics

Jennifer Wiggins is the senior genetic counsellor at Royal Marsden Hospital. She has specialised in cancer genetics since 2003. Here she shares some observations on the way mainstreaming cancer genetics has shaped conversations with patients.


with mainstreaming cancer genetics, a genetic counsellor can dedicate more time to the people who need it mostIf you think back to the conversations we used to have with patients in the early 2000s, about their  family and personal family histories of breast and ovarian cancers and options for genetic testing and compare it to the conversations we have now, the change is dramatic.

In the past, when we offered diagnostic genetic testing to the few who qualified for testing, the test cost thousands of pounds, took months to report and didn’t even screen the whole of the genes. Genetic counsellors spent lots of time and resources verifying family histories and doing risk calculations in order to ration the tests.   We weren’t sure what to tell patients about their familial risk if they had a normal BRCA1/2 test. We were still waiting to hear if researchers would ever discover the ‘BRCA3’ gene. We didn’t even know how best to screen these high risk patients for cancers, and there was certainly no equitable access screening across the country.

In those days, when discussing predictive BRCA testing, patients were dealt with in the same way as Huntington’s families.  We expected patients to attend more than one pre-test appointment before offering the test and to attend a face to face clinic to receive their results. We were anxious about how they would cope with a positive result.

In the early days of BRCA testing, oncologists wouldn’t refer cancer patients until the end of their treatment, if at all, as there was a concern that the genetic test would be too much for patients to cope with, in addition to their cancer diagnosis.  As their BRCA status wasn’t relevant to their treatment planning, genetic testing was an afterthought, with referrals often instigated by requests from a patient’s relatives, concerned about their risks.

Now, oncologists are offering BRCA1/2 testing at the point of the cancer diagnosis because a patient’s BRCA status is important consideration with regard to planning treatment, understanding their prognosis, their future risk of cancer and options for drug trials. The tests are cheap and quick so the results can be used in real time. Patients are now much better informed about genetic testing than they were fifteen years ago. They’re expecting to be offered testing or have a discussion about it and their BRCA literacy is generally very good. It’s no longer feasible to wait until after treatment is complete to offer genetic testing.

The utility of testing is no longer up for debate. Clinicians’ anxiety about testing being too distressing or too much for patients appears to be unfounded. When counselling patients about either diagnostic testing or predictive testing it is difficult to argue that not knowing offers any advantage to the patient. Having the test doesn’t change whether or not they have a BRCA mutation, but if they do have a BRCA mutation and know about it, this completely changes their opportunities for risk and/or cancer management.

Now that we are able to offer BRCA testing directly to patients, without agonising over the testing criteria, we have freed up clinical resources to follow up and support the BRCA carriers we have identified. We work with the families to facilitate planning their risk management preferences, make appropriate referrals at the right time, and work to ensure that cascade testing is taking place within families to identify as many BRCA carriers as possible.  This way, we can help them take steps to reduce their risk of cancer in the future or at least try to diagnosis any new cancers.

I’m not saying that having a BRCA mutation isn’t a significant issue for individuals or families. It is. The information is complex and evolving. There are many decisions to be made and difficult conversations to be had with children and the extended family. When I talk with patients about testing I can be clear about the benefits, I can explain the limitations of testing and have productive conversations about risk management. I am very matter of fact when discussing genetic testing now and I think this approach helps patients to put the testing and the results into perspective.

With mainstream testing I am able to better support these families as they adapt to the genetic diagnosis and make the most of this genetic information. We can offer more support in the short and long term, now that upfront testing is a streamlined process.  I think mainstream testing enhances our professional role and gives us the opportunity to focus on the family as well as the patient.

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.

Patient power in genetic medicine

anastacia-naga-and-nazneen-for-blogA few weeks ago I found myself marveling, once again, at the power of the patient advocate. I was in my lab in the Institute of Cancer Research, London standing next to the Strictly Come Dancing contestants Anastacia and Naga Munchetty.

It was an unexpected position for a scientist to be in!

We were meeting to talk about the value of genetic testing for cancer patients as part of BBC Breakfast’s excellent ‘Shine A Light On Cancer’ week. And to mark the 1000th patient at the Royal Marsden that has benefited from the new patient-centred, cost-effective genetic testing process we developed through the Mainstreaming Cancer Genetics (MCG) programme.


Patients are powerful messengers

Anastacia has had breast cancer twice, first when she was only 34 years of age. She has been tireless in raising breast cancer awareness and is an inspiring exemplar of not letting illness impede your dreams.

Impressively, Anastacia was very informed about my team’s work. She was also passionate about the enabling, empowering value of genetic information in helping people to make choices. This made the message so much more powerful and real and engaging. It was a pleasure to be her wingman!


Global connectivity offers new opportunities for patient power

ppprdIn the same week, I received an email from the mother of a child who has a mutation in the PPP2R5D gene. This is one of the genes my group has reported on. Certain mutations in the gene are associated with increased growth and intellectual disability. There is a very active facebook group for this syndrome. The group are collecting information about how PPP2R5D mutations affect children. The mother sent us this information for her child, unsolicited, to help our research. It was wonderful!

There are similar facebook pages and websites for many other genetic conditions. We should aspire to have a patient-powered group for every genetic condition.


Patient powered research can simplify consent

If I had tried to set up a research project to get information from patients with a PPP2R5D mutation I would have had to submit proposals, undergo review from various committees and gain approval from ethics and research boards. It would have been many months, possibly years before I could start.

It is, of course, important that appropriate procedures and informed consent processes are followed when obtaining information from other people. But if patients themselves decide to collect and disseminate their own information, many of the consent issues become redundant, or at least, simplified.


Patient power can drive innovation 

For some conditions patient groups have already played a critical role in driving forward research and treatments. For example, the recent successes in developing genetic therapies for cystic fibrosis would not have been possible without the support, creativity and drive of cystic fibrosis patients. In particular, patient-reported outcomes have been a key metric in evaluating the effectiveness of cystic fibrosis therapies.

 We should aspire to have a patient-powered group for every genetic condition.

We are also increasingly seeing consumer-driven drug development for rare genetic diseases that are not financially attractive targets for traditional pharmaceutical companies. For example, Karen Aiach founded Lysogene to develop a treatment for Sanfilippo syndrome A, which affects her daughter.


Partnership between patients and researchers is crucial

Individual patient stories can be very impactful, but they can sometimes also be misleading or overly-influential in driving priorities. Collaboration between patients, scientists and clinicians, based on the respectful recognition of complementary strengths, is the optimal configuration. Science can appropriately translate patient experience into new insights, clinicians can safely translate those insights into new practice. This helps more patients. Everyone wins.


Patient expectation can drive change

When I first started talking to patients about BRCA testing, 20 years ago, I had to explain about DNA, genes, genetics, why there were links between genes and cancers. These were new concepts and terms to virtually all our patients.

Now, “DNA” has become a generic term for “blueprint”. “It’s in our DNA” seems to have become a default phrase in company mission statements! In turn, patients are more aware of the terms and concepts involved in genetic medicine. Now many patients ask us for the BRCA test before we have said anything!

This change in patient awareness and patient expectation was the primary driver behind our mainstreaming programme, which has simplified access to BRCA testing for cancer patients. When we initially proposed consent could be taken in the cancer clinic there was concern from some that it was neither possible nor ethical. The concerns were understandable based on patient knowledge and expectations in 1995, but were out-of-step with knowledge and expectations in 2015.

Patient acceptability of mainstream testing has been extremely high. At the Royal Marsden, over 95% of cancer patients accept BRCA testing offered at their cancer clinic appointment. I was one of the main drivers of this change in practice and yet I was still surprised at how far and how fast people’s perceptions of cancer gene testing had evolved.


Patient power will drive global uptake of genetic medicine

With respect to access to BRCA testing the clinical and research community had fallen behind the curve of patient needs, in other areas sometimes we can go too far ahead. What society expects and accepts is not hard wired. It can change rapidly and idiosyncratically (as world events have shown us many times in 2016!).

Close communication and collaboration with the people affected by genetic medicine is vital to keeping researchers and doctors on the right track. Supporting and harnessing patient power will be central to maximising the global benefits of genetic medicine.


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.


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.