Monthly Archives: February 2017

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.