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A Spotlight On: Genetic Counsellors and Adapting Services – Beth Coad, Principal Genetic Counsellor

Beth Coad is a Principal Genetic Counsellor at St George’s Hospital in London. She is also a part-time Honorary Clinical Lecturer in Cancer Genomics at St George’s University London. Beth specialises in cancer genomics and has a particular interest in ensuring that clinical genetic services are inclusive for all patients, particularly the LGBTQIA+ community.

Please note the transcript has been edited for brevity and clarity.

FLG: Hello everyone and welcome to the latest “A Spotlight On” interview. Today, we are going to be talking about the role genetic counsellors play. So, before we kick off Beth, if you could just introduce yourself and tell everyone a little about what you do.

Beth Coad: My name is Beth Coad. I am an acting Principal Genetic Counsellor at St George’s Hospital in London. I’m also a part-time Honorary Clinical Lecturer in cancer genomics. So, I’m really lucky that I have a bit of a split role. In my St. George’s Hospital role, I’m a clinical genetic counsellor. So, I see patients mostly in cancer these days and take them through the process of genetic testing and support them with that. In my lecturer role, I’m involved in creating a lot of online learning resources, particularly to train up the medical workforce in cancer genomics and helping them to be more prepared for ordering genomic tests.

FLG: That’s really exciting. How did you get into your role as a genetic counsellor? And what made you want to go into it?

Beth Coad: I think like quite a lot of genetic counsellors, we often say that we really like science and are interested in science and biology and how things work. But the laboratory side was maybe not as much for us, because we often have this real pull towards being involved with people – talking to and supporting patients. And so, it was really just trying to find a career that balanced those two things. I was really lucky, I had a biology teacher all the way back when I was in school who vaguely mentioned it to me, and then throughout my undergrad degree doing science, I looked into science communication and all those sorts of things. And in doing the research around that, that’s where genomic and genetic counselling came up. It just sounded like my dream job. I get to be a nerd and be interested in the science, but I get to talk to people every day and help them with really complex issues. It’s a real dream job.

FLG: Why is the role of a genetic counsellor so important in healthcare?

Beth Coad: The role of a genomic or genetic counsellor is one that is quite unique and unusual in healthcare for a few different reasons. I think that the “counsellor” part of our name is significant and we’re really lucky to get trained in counselling skills. A big part of our job is looking at how we can support patients and take a holistic view when we’re taking them through genomic or genetic testing. Also, as part of that we also have slightly longer appointments with patients, which is really nice, and we are able to provide a little more support. But also, in terms of genomics and genetics, it’s a really specialist part of healthcare that a lot of the time isn’t necessarily part of healthcare training. So, to have individuals who really do have those skills and that knowledge base is important to be able to support not only patients, but also colleagues in terms of helping them order genomic testing.

Thinking about healthcare services now and why genetic counsellors are so important, we know that genetic testing is growing and expanding, and more and more people are being offered tests. And these tests can really make a difference to peoples’ lives, or their cancer treatment for example. The tests can be really complicated and complex tests and so having highly trained individuals that are

easily accessible, is a really useful resource that we have. But sadly, there are only so many of us at the moment. I think we need more for the needs that are coming.

FLG: Your role is so patient focused, how are genetic counselling practices ensuring that they are patient centred?

Beth Coad: I think that something we have almost from day one built into most genomic counselling training, is really looking at the patient in a holistic way and having a patient centred approach. And in genetics, when we’re talking about a patient centred approach, it’s really important to remember that we actually mean the entire family. When you do a genetic test, you’re not just getting information for that one individual, like most other healthcare tests do, you’re actually potentially finding out information that can affect an entire family. So a real part of our approach is looking at the person in front of us, what the family network around them might be, what their support network might be, how this genetic test result may impact them and their life and thinking about how we can best support them going forwards. So, we’ve always had as sort of the grounding of what we do putting the patient at the centre and doing everything that we can to ensure, not just that we’re giving them the appropriate information, but that we’re also trying to give them what is really quite complicated information in an accessible and understandable way. But also considering the psychological implications of this testing and how we can support them with that as well.

FLG: An important part of your role is potentially giving people a diagnosis. How do you deal with those situations?

Beth Coad: It can be quite a difficult part of our role that occasionally you have to break what might be seen as a bad news diagnosis, such as telling someone that they do have an inherited cause of a particular health condition. It really varies what we do and so we vary our approach slightly on what that result might be. I work mostly in cancer and a lot of the time when I’m doing diagnostic testing, I’ve got someone sat in front of me who’s already got a cancer diagnosis so I’m not the one giving them that diagnosis. I might be giving them a reason why they have that diagnosis. I’m sometimes focusing on the why and also the what we can do. So, in the case of cancer, are there treatment options that because you’ve got this genetic change, we may be able to target your cancer a little better than we would have done if you didn’t have this genetic change? And what can we do in terms of risk reducing options or screening options for yourself in the future, and also your family that are at risk. So, I think that a big part of it is, is highlighting that if there are options, there are options.

But other times in genetics, we might see patients where there aren’t necessarily those treatment options currently. And it’s about learning to live with a genetic condition and accept it. It might be our role as genomic counsellors, in part, to prepare them for that before they’ve had the test and before they’ve had that result. And spending some time talking through that and helping them be in a good place for when they do get that result. Or it could also be looking at onward support. So, whether that’s thinking about patient support groups we can connect people to or whether it’s involvement in research studies that can be a helpful form of support. It’s about thinking about options in the future. And sometimes we can be that guide and that pathway, really connecting patients up with lots of different services in a way that again is quite unique. Maybe there aren’t as many other roles where people can do this and this is also a big part of what we do.

FLG: You must come across so many complex situations. What are some of the complex family dynamics that you’ve come across? And how have you dealt with those situations?

Beth Coad: We all know how complicated families can be. As soon as you’ve not just got that patient sat in front of you to think about, it can get more complicated. And so, we certainly have examples with genomic and genetic testing around the right not to know and that sometimes people really won’t want this piece of information. And they don’t want to know that they’ve got a genetic risk. And everyone does have the right to not know that. But we may have a challenge that perhaps that person’s child may want that piece of information, because actually, they may want to consider the risk reducing or screening options again when we’re thinking about those inherited cancer risks. And so, in those circumstances, we can have a challenge where we deal with working with our patient to maybe give them the information they need for their healthcare decisions or choices. But considering that their genetic test result, for example, when we see autosomal dominant conditions, we will actually be giving the results for their parent who may not want that piece of information. And so, it’s working sensitively with families to try and prepare them and consider the best outcomes that we can have in that circumstance. But also, at the end of the day, putting what’s in the best interest of our patients in front of us and putting their healthcare needs at the real forefront.

FLG: Another ethical challenge that you face is predictive testing in children. How do you ensure that you protect patient autonomy in these cases?

Beth Coad: Yeah, so when we see adult-onset conditions in genetics, so again, a lot of those cancer predisposition syndromes we’re talking about, so things that people might have heard of, like BRCA. Or another common one is Lynch syndrome, where there’s an increased risk of bowel cancer. In those conditions and neurodevelopmental conditions, like Huntington’s disease, that happen in adulthood, we don’t usually test children for those conditions, because they have no control over that decision when they’re a child. It’s taking away their autonomy by doing that test in their childhood. And so, we generally in genetics don’t test for those conditions, because it’s usually not in the best interests of the child, there’s no healthcare interventions we can do at their current age. And we encourage families to talk to their children about the genetic condition, it isn’t something that should be kept a secret. And we know from research in this area, that talking to families, and giving small bits of information in age-appropriate ways is really the best thing to do. So that when children are adults and they are over the age of 18 and able to consent to testing, they can really be involved in that process. They’ve been given that information over time, and it’s easier for them to adapt that way.

But there are some circumstances where there are genetic conditions that obviously can impact upon a child’s health and having a diagnosis can be helpful for them, whether it’s accessing a treatment option, or actually, whether it’s potentially accessing care services by having a diagnosis and a name for that condition. So, in those cases, it’s about balancing the best interests of the child. And if it is in the child’s interests to do the test, we will do genetic testing in children in some circumstances.

FLG: In your role, you come across people from different backgrounds, communities and beliefs. What ways are you adapting your services and the way you communicate with, for example, transgender patients?

Beth Coad: Yes, you’re exactly right. Like any healthcare services, we see all sorts of people. And we really are conscious in the world of genetics now to try as best as we can to be an accepting and an inclusive service for everyone. We really do want as many people as possible to be able to be accessing genetic testing that may be helpful to them. And so, in the example of trans patients, I am involved with a group who are currently working to improve general access and care for trans and

gender diverse patients who might have an inherited cancer condition or may have a family history of cancer that means that we may recommend some extra screening. And so, there’s a group of us currently working on that with the UK CGG, the UK Cancer Genetics Group, to create more guidelines in that area. And so far, we’ve looked at some cases, and we’re hoping to involve some patient groups and some charity groups in that as well.

Some really simple things that we’re able to do is when we think about our family history questionnaire. When we in cancer genetics here at St. George’s invite people to our service, we ask them to fill out an online family history questionnaire, and we will ask them their gender that they identify with and give a list of different options as well as being a man including transgender men or women including transgender women, also nonbinary options, or also the option to put other and include a free text description. Then we ask people if their sex assigned at birth aligns with that gender, because for us, it is important to have that information about sex assignment at birth, because that can affect cancer risks in these inherited conditions. As well as that we also just include some free text options so that people can explain if they’ve got a relative who is transgender, for example.

You’ll also see us regularly wearing things like badges in our team. So, we have the NHS rainbow badge which is one symbol that people will know. And you’ll also see some of us with a little rainbow DNA badge as well. And also, pronoun badges and asking patients things like what their preferred pronouns are. When we’re drawing a pedigree and we’re explaining things we also think about what inclusive pedigree symbols we can use as well.

And so from using guidance from patient led research in the US, we are currently using the symbols of the gender that someone identifies with, and considering an alternate symbol for non-binary individuals. But we still need more research in the field to pin this down. At the moment, that alternate option with really clear labelling is what we’re using and just working with patients and talking to them about what they prefer and what language we can use to be more inclusive as well. Whether that is using tissue specific language and thinking about, for example, using a term ‘chest’ or ‘breast/ and asking a patient what’s more comfortable to them. Thinking about ‘people who have ovaries’ or ‘people who are pregnant’, as opposed to automatically jumping to ‘women who are pregnant’. All of those things are different ways that we can adapt our services and we are recommending that we do so. As genomic counsellors we have a patient centred approach and we are in a good place to push this forward. And we have support from the Association of Genetic Nurses and Counsellors who have put on training in this area. So, it really is a field where we’re working on getting better.

FLG: The patient led research is so important. What are some of the challenges that you think genetic counsellors will face over the next few years?

Beth Coad: I think a big challenge for us that we’re starting to see now, that is only going to increase, is mainstreaming genomic testing. And so, a big part of the future in the NHS, but also in healthcare systems across the world, is making genomic testing available at the point of treatment and care for patients.

In my field of cancer genomics, this is something that means we can get test results in time to support personalised cancer treatment for individuals, which is hugely important. And while that’s an amazing thing, and really helpful, that’s a really big challenge, because that’s a huge number of people, firstly, accessing the testing and potentially having results that they need support with. But it’s also a huge number of healthcare professionals who traditionally don’t have extensive training in

genetics and genomics. And supporting these healthcare professionals so they feel able to consent patients to testing, give them appropriate results and also deal with the increasingly complex results that we get. So, variants of uncertain significance are things that we’re seeing more and more of, the more genomic testing we do. And those are variants that we’re not sure if they’re just part of normal variation, or if they might explain a person’s cancer diagnosis, for example. So, when we get those, they can be a really challenging result to interpret. And also to think about what care decisions to make for that patient based on that uncertain result when we wouldn’t normally want to be saying, for example, do a risk reducing surgery, based on something we’re not sure about. So, supporting our wider healthcare professional team and giving those results and helping patients I think will be a really big part of the role for genetic counsellors in the future.

Also, regarding widespread genomic and genetic testing, it would be lovely if it became something that was much more normalised in society, and that it was something that more people were able to access. And again, widespread access will require more education about genomics for the general public. We were taught maybe a little bit of genetics back in school when we were doing our GCSEs, but lots of people didn’t have this when they were back in school. And so, it’s helping people to feel a little more alert and aware and have that autonomy and empower themselves to explore the potential genetic information and their family histories that might be helpful to them. And I think genomics counsellors are really well placed to play a role in supporting at that wider level, as well as in that healthcare setting and supporting that real point of care delivery.

FLG: What are your hopes for the future?

Beth Coad: I’m definitely hopeful that it’s a more accessible and available service and that more people have access to clinically appropriate genomic tests. I don’t think we necessarily want to be saying yes, everyone should be getting a whole genome sequence for absolutely anything straight away, because we have those variants of uncertain significance that we’re still really not sure what they mean. But what I mean is everyone no matter what background they’re from has equitable access to a relevant test that may help their treatment. So for example, every patient diagnosed with breast cancer having a look at a panel of breast cancer genes that might explain their diagnosis, and also give treatment options. I think that’s a big hope for me in the future.

At the moment, genomics services are largely more beneficial to and we largely see more patients from White and European backgrounds. A lot of our research data and the information that we have for interpreting variants comes from studies of White European people. And so, a real hope for the future, and I know there is work going into this area, is that we will have more diverse populations involved in our research studies and we will have more diverse populations that we are able to serve and support in accessing the testing that they need. So, I think that’s another hope for the wider services.

And I can’t not say for there to be more genomic counsellors! Because there are lots of us that are in really high demand and there just aren’t quite enough yet. And we really have a versatile role and can be helpful in so many different ways. You’ve already heard from my few different hats that there are lots of different things that we can do. So, I think seeing more genetic counsellors supporting this service is definitely a big hope for the future for me as well.

FLG: I agree. Thank you so much for talking to me today Beth. It’s been really interesting and I’m excited to see how the role of genetic counsellors grows and hopefully there’ll be more and more genetic counsellors in the future.

Beth Coad: Thank you

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