This is a transcript of the video "What is genetic counselling?" presented by Helen Bethell.

[00:00:00] My name's Helen Bethel. I'm a registered genetic counsellor here in the UK and I work part time for the NHS and have recently begun working part time for the Haemochromatosis UK charity. Today I'm going to deliver a webinar about what is genetic counselling. So I'm going to look at personally the history of genetics and talk about how the science has developed and how the role of genetic of genetic counsellor has emerged.

[00:00:29] I'm then going to go on to talk about exactly what a genetic counsellor is, who they are, where they are, how they work, what they do, and when they do it. So firstly, little bit of a history. So genetics has been around for centuries. So farmers have been selecting, breeds of animals to breed together and produce certain traits and products.

[00:00:52] So it's been known about for years. It just didn't have the title of genetics. And back in 1859 as scientist known as Charles Darwin. Started two studies looking at natural and started writing about natural selection. So we started noticing that within nature, animals and creatures might have certain traits which were more suitable to particular environments, and therefore they were being selected and survived better and because of those traits.

[00:01:17] Around similar time, there was a German monk known as Gregor Mendel. Who, was a keen gardener, in the monastery where he lived. And he started to note that there were certain traits, that could be predicted. And when he was crossbreeding some of the plants that you had in his, in his allotment. And he started to realize that traits could be predicted in a particular ratio.

[00:01:43]And that he, Gregor Mendel is considered the first person to have noted about, traits can be inherited. Not so long after in 1869 DNA was actually extracted from the South. And DNA is the thing which encodes for our genetic instruction. So it's the thing that they're genetic. A chemical which sits in the middle of the cell, which encodes for our DNA.

[00:02:09] They didn't know what it was at that time, but they were able to extract it and they knew that it was something to do with inhabitants and the instructions from the South. Fast forward to 1953 and a team were able to correctly identify the structure of that DNA that had been extracted. And then within a couple of years and the first disease gene was identified.

[00:02:30] So it was the first gene, the first genetic instruction that was found to be linked to a disease, and that was sickle cell anemia that was from. By 19, the next couple of decades, up until the 1970s machines were being developed to try and read or sequences, we call it the genetic code. So that is where we try and look at the sequence of the genetic code, and look what order it's in.

[00:02:54] Although the interpretation of what that code means is another part of the process. In 1975 machines were being developed to sequence this genetic code. And in 1990 the first human genome project was launched on that, would, that had the aim of reading the entire genetic sequence, the entire genome of one single person.

[00:03:17] And as you can see from the slide, actually took 13 years to be able to achieve that. So one person's DNA to read it from start to finish and to read that code. Where we are today, so in 2020, we're actually able to do a full genome sequence within 24 hours. So what took us 13 years back in 1990, we're now able to do within a year, within a day, sorry.

[00:03:41] However, what that code exactly means, again, is another part of the process. And that's why we are today in genetics, is trying to interpret that information that we can read, into useful information. We now know, so from 1955 while we found the first sickle cell anemia gene, we now know thousands of genes which are associated with diseases that, we see.

[00:04:03] Just out of interest in 1996 the gene which causes haemochromatosis, the HFE gene, which stands for high iron and was found on chromosome six. Chromosomes are like the filing cabinets where our genetic information is stored. And in 1996, the specific genetic instruction, which is altered in genetic hemochromatosis was identified.

[00:04:33] So throughout all that history, you can see that within the last couple of hundred years, and we have, our knowledge of genetics has dramatically increased. And from around the 1970s, through to the eighties and nineties clinical genetics, which is a genetic service within the health service, which tries to understand disease and genetics and how they interact was starting to emerge.

[00:04:56] Through that, through doctors trying to make diagnoses and trying to help inform patients of the genetics, which are causing that disease. A role for a support person and a person to help families come to terms with the information that they have and to undergo testing and make informed decision was also emerging.

[00:05:18] And that's the role today that we consider as a genetic counsellor. Now traditionally, in years gone by, this is very much a nursing role. So it may have come out to the nurse or midwife who maybe had a special interest in genetics and so ran a specialised, genetics clinic within their setting, and maybe eventually moved into clinical genetics.

[00:05:40] But in the early 1990s in 1992, the university of Manchester setup a master of science, MSc degree, for people welcoming applications from nursing and science backgrounds to study genetic counselling. and that has been running now for, since 1992 and I know the universities now offer that. that training. If anybody is interested in finding out more information about training to become a genetic counsellor as a link at the end of this presentation where you can find out more information about that.

[00:06:13] So, back in the nineties, genetic counsellors were studying the MSc and were coming out qualified with backgrounds in either nursing or science. In the early two thousands, it was recognised that those who were qualifying through the MSc route who had a science background weren't necessarily regulated.

[00:06:33] So those were the nursing background were registered with nursing bodies and that were established and made sure that, nurses were or competent in the work that they were doing. However, those who had a science background didn't have any form of regulation and therefore in early 2000, the genetic counselling registration board, the GCRB was established and is still running today.

[00:06:54] So after people have qualified as a genetic counsellor and they are requested within the UK to qualify, to submit a portfolio of work, which normally takes about two years to accumulate. The portfolio is a mixture of, caseload as well as academic pieces of work and writing.

[00:07:16]And once that is approved, then that person is considered a registered genetic counsellor and their name is entered onto a register of genetic counsellors, which can be accessed by anyone. And I'll come back to that in a little bit. So I just wanted to touch on the terms, genetic counselling versus the term genomic counselling.

[00:07:37] So traditionally, genetic counseling is a term that has been broadly used. Occasionally people might refer to themselves as a genetic nurse, but genetic counseling is the more widely accepted term. However, as I've mentioned already, genetic testing is changing, so it's gone from being where we do specific genetic tasks where we look for specific changes, and we still do quite a lot of that testing versus testing where we are testing a more broader range and more widespread testing and more genomic approach.

[00:08:01] So rather than considering particular genes, we are considered a considering a person's whole genome. And as testing and our approach changes, genomic counselling has become a more used term.

[00:08:19] So throughout this presentation I might use those terms interchangeably. Because they are one in the same thing. However, as we move into a more genomic era where we do need to do more widespread testing genomic counsellors may become a more preferred term. So where are genetic counsellors? Where can you find us?

[00:08:36] So within the United Kingdom, obviously we have our fantastic national health system, and therefore a lot of the genetic counsellors within the UK, the majority are located within regional genetic services, which fall into the NHS. There are a small number of genetic counsellors who work in a private setting.

[00:08:55] And I just wanted to draw your attention to the fact that genetic counselling as a term isn't actually a protected title. So actually anybody could use the term genetic counsellor. However, registered genetic counselor is a protected term. Therefore, if you are due to see somebody who is calling themselves a genetic counsellor, it's important that you check that they are on the register of registered genetic counsellors.

[00:09:13] To ensure that they have the skills and the training that are needed in order to be able to give you the right information and accurate information and to ensure that the service you're receiving is a safe one.

[00:09:29] So that can be accessed the register can be accessed on the link on the website, on the slide. However, as I said, the majority genetic counsellors are within the UK, are located within the national health service, and so clinical genetics forms part of the tertiary service. So in the national health system, you have your primary care, your GPS, you have your secondary care, which is your hospitals, and you have services that are considered tertiary services such as genetics.

[00:09:58] Well, they asked specialised services, and because numbers are low, that could run in regional services. Now, some genetic services cover large geographical areas. Also, this cover quite small geographical areas because they're densely populated. So for example. In London, there are several genetic services, located within there, whilst the Northern genetic service and covers right up to the borders of Scotland right down to Yorkshire and Cumbria as well.

[00:10:23] So it covers quite a broad range. And if you wanted to know more about your local genetic service, you could find that on this, on the website link that shown there the British Society of Genetic Medicine. And that linked also given at the end of the presentation.

[00:10:44] So how genetic counselling works. Well, first of all, we need to think through how referrals are made and how they're received by genetics. So, referrals can be made by primary care GP’s or by secondary care, and they're made when a doctor or nurse might suspect that, the pattern that they're seeing in front of them or the family history, which has been reported by the patient, might be suspicious of an inherited tendency or genetic factors.

[00:11:12] So they might suspect that there's more going on than just chance in this patient that there might be genetic factors that are, that are playing out here. And therefore there may be risks, not just impact to the patient in front of them, but also to their wider family. So referrals are made and received and this is where services may change depending on which regional genetic service you're affecting.

[00:11:35] However, broadly speaking, referrals are usually dealt within one of two ways. So the first one is that the referral is received an appointment to send straight away. The second, pathway is that rather than being sent to an appointment straight away, you're, you're asked to complete some information, a family history questionnaire before you're seen. So that the information can be collected by the genetic counsellor, or the, clinical genetics team.

[00:12:01] A risk assessment can be made based on the information that has been collected. And then from then, you may receive a letter explaining your risk, or then you may be invited again to make an appointment to discuss that in more consideration. Common genetic conditions are, are not necessarily always seen by genetics.

[00:12:21] Now, and I'll come onto a little bit about that towards the end of this presentation. So what we see and do. So genetic conditions can arise by alterations to chromosomes. So chromosomes, as I touched on before, are the filing cabinets, which hold our genetic information. And they're arranged in pairs because we get one set from our mother and one set from our father.

[00:12:44] And so you can see on the picture here that this 23 pairs on the last pair with the sex chromosomes, which dictate whether you're male or female. So on the slide, it shows that this person has an X and a Y and therefore is male. So alterations to [00:13:00] these chromosomes can cause disease. So it may well be that these chromosomes have a little bit extra information on them.

[00:13:06] It may be that they're missing a little bit of information, or it may well be that they've got a bit of information that's been switched around a bit and all those things can cause genetic disease. And so that all genetic conditions, and therefore they met somebody, maybe refer to genetics, and we may be able to do some testing, which can identify what has happened to the chromosomes.

[00:13:26] And it would then mean that if we're able to identify that in the family, we could then say to others in the family, do you want to know whether you've inherited this or not? And in a similar way, but in a more specific way, we can actually look for specific genes. So genetic conditions can arise where you have simply one letter that is wrong in a genetic code.

[00:13:47] So one letter that is wrong may alter the protein that its coding for, which is the unit that is working within the body to carry out a particular function. One simple spelling mistake may alter that protein, which means that it's unable to carry out that function and therefore, it's causing symptoms and therefore a genetic condition.

[00:14:10] Or it may well be that there are several genetic factors. So there's not just one particular chromosome that is altered, is not just one gene that is altered, there may be several genetic factors that are working together and may even be interacting with the environment. So genetic conditions can arise by different, by different, different ways.

[00:14:30] The areas of work that a genetic counsellor at sees again, varies between genetics centres. However, generally speaking, workload for genetic counsellors is split into two categories, into, into cancer and into general. So the work that we do with cancer is looking at family histories where there maybe a lot of cancer. So cancer is a common thing.

[00:14:52] So one in three people will develop cancer in their lifetime, but in some families, there's more cancer than you would naturally expect to find with that one in 3 statistic. So we know that particular inherited predispositions to cancer include things like BRCA one and BRCA two and Lynch syndrome.

[00:15:10] So those occur in about 5% of families where we see with family histories of cancer, where they have a specific genetics spelling mistake. And the advantage of being able to assess a family history and identify those specifics by the mistakes is that we can then say to relatives of those people, do you want to know whether you've inherited this or not?

[00:15:30] And also we can be very specific about management for those patients. It may be that we never get to the point of finding a specific genetic spelling mistake, but we are able to put people into a risk category of low, moderate, or high, and be able to recommend screening for them that is appropriate to that level of risk.

[00:15:49] In terms of general genetics, and that encompasses everything else. And there may be specific specialist areas within general genetics. For example, there may be muscle conditions, conditions involving the eyes, neurological conditions, and lots of others. So there may be specialist areas and but general genetics generally involves everything else.

[00:16:09] Prenatal is also an area of work, which genetic counsellors become involved in. And that might be in helping people try to plan a pregnancy and consider treatment, which might mean that the genetic conditions passed on, or it may well be that they're already pregnant and that we're organising testing and pregnancy for them to work out whether the baby's affected by the genetic condition.

[00:16:29]So on the slide, a list of questions. Is my condition inherited? What can be done to reduce the risk? Do I want to know if I'm at risk? Could I have prevented this from happening? Can anything be done to prevent this? Have I passed this on to my children? How do I explain this to my family, my children, or are other members of my family at risk?

[00:16:55] What has caused this to happen? and is my condition inherited? All these are questions which are common questions, which are put to genetic counsellors, and often the questions that counsellors try, try to answer. When you are ill and you go to your doctor with symptoms, then you may be offered testing.

[00:17:16] Genetic testing is very different to those kinds of tests which you might be offered if you're experiencing symptoms, and it might be different for two main reasons. The first one is that when we do genetic testing, you might not yet be having symptoms. And therefore in some ways we are actually predicting whether you are going to develop symptoms or not.

[00:17:37] And for some patients, they do want to know this information. They want to know so that they can prepare, be prepared, and so that they can take any measures that they can in order to reduce their risk. For other patients, they don't want to know this information. It's very difficult to live with and might feel that they're waiting and they've got a ticking time bomb by knowing that they have this condition.

[00:17:59] The other way that genetic testing alters from testing that you might access by your GP is that it not only gives information about you and your health, which also reveals information about your relatives. It might tell you your parents are at risk. It might tell you your siblings or even your children that you might have passed this on to them.

[00:18:21] So genetic testing can often be a very emotive process. Patients can often struggle with the emotions that it can cause. And genetic testing, genetic counselling is there to help support patients with these emotions and help consider them when they're considering whether or not to have genetic testing.

[00:18:40] That's part of the reason why we have counseling in our title. So although we're not counseling per se, although many genetic counselors have got counseling qualifications. With the genetic counselling, it isn't counselling specifically. However, we use a lot of the skills and a lot of the methods of counselling to help patients to explore their feelings and their emotions. To ensure that they come to a properly informed decision that's going to be the right one for them to live with.

[00:18:59] So what is involved in an actual genetic counselling session? Well, every single session is different, although there can be similarities too. So generally speaking, every genetic counselling session will be centered around the agenda that the patient has.

[00:19:18] So the questions and the concerns that they have. So it depends what the patient brings into the room and what their family history is in terms of what is covered in that session. It can also vary between different genetics centres and where it's located. So typically, most sessions are between 30 minutes to an hour.

[00:19:35] They usually located within a hospital and they may involve some information collection. Particularly if you haven't sent in a family history questionnaire already, then you might be asked to give a family history of history within the clinic. The session might also involve some information about risk assessment and management, about risks to your relatives, about risk to your children, information about inheritance and how this could be passed on and what the risk is for your children and for your siblings.

[00:20:04] It might also be a discussion about advice about testing. So is there testing available? and if there is, what that involves. Just to note, genetic testing isn't available to everybody. So genetic testing is still relatively expensive and therefore there's usually criteria to be met. So what I would say is just be prepared that you won't necessarily be offered testing if you have a genetic test or genetic counselling appointments

[00:20:27]. You may also be offered followup appointments. So some patients are seen in a series of appointments. Some patients just need a one off appointment, but that can be flexible usually, and depending on, on the centre that you'll see now. So when do we see patients?

[00:20:48] So on the slide is, a circle and you can begin at any point. It covers pregnancy. It covers birth, childhood, adolescent, adult hood and family planning. Genetic counsellors will see patients at all points of that circle. In pregnancy, there may be abnormalities which are detected by population screening, such as scanning when somebody is already pregnant, may flag up that those are symptoms of a genetic condition and may indicate that there's genetic factors going on, in which case that couple might be referred to genetics for an exploration of that.

[00:21:20] Or it may well be that we see the family, for testing and pregnancy. So it may well be that we know a specific genetic condition within the family and therefore there's certain testing that we're able to carry out. It may well be that we see a child at birth with their parents, so features at birth, again, might suggest that there is a genetic condition and that there are genetic complications going on and might indicate a diagnosis.

[00:21:46] Or it may well be that we, again, we know the genetic condition in the family that the couple may have opted not to have any test in your pregnancy, but to decide to have testing at birth testing. Testing at birth for a known genetic condition is only offered when there is treatments available. If it's or if it's a new onset condition.

[00:22:04] If it's an adult onset condition and testing is only offered from the age of 18. In childhood, children might develop learning or behavioral difficulties, which once again might indicate that there is an underlying genetic factor in the family and they maybe be referred to genetics to try and work out what what that is.

[00:22:26] In adolescence, so at the age of 16, people are considered to be Gillick competent, which means that they're old enough to be able to give informed consent. So at the age of 16, carrier testing for recessive conditions such as haemochromatosis are offered. However, those with genetic conditions, which are dominant conditions, so actually caused symptoms in the patients that we see, then, and if they are adult onset, testing isn't offered until they're 18.

[00:22:57] So in adulthood, as I just mentioned, predictive testing for adult concept conditions is offered from the age of 18. And it may well be that we see patients in adulthoods in order to help manage their risks and their screening. And finally, family planning. So genetic counsellors maybe get involved with couples who are planning a pregnancy and where there is a known genetic condition, they are planning what their risks are and what their options are for pregnancy.

[00:23:27]and in particular, maybe planning for the use of preimplantation genetic diagnosis, which is a specific form of IVF, which can be used for genetic conditions. when the condition is licensed for that use. So genetic counselling on haemochromatosis. So we've talked about the history of genetics, and we've talked about what genetic counseling is, and I just wanted to go around and talk a little bit about genetic counseling and genetic haemochromatosis.

[00:23:56] So historically, all patients with genetic conditions were seen by genetics. And that included haemochromatosis. However, as I've talked about throughout this presentation, the testing ability that we now have has dramatically increased in the last decade or two. This has meant that there's been issues with capacity within genetics as we're being demanded for more complex and specialist roles.

[00:24:20] Therefore, common autosomal recessive conditions such as haemochromatosis where the management of symptoms is already carried out by primary and secondary care and genetics is only really involved in terms of the management of the genetic testing. In these scenarios, genetic testing has been passed back to GP to primary care in order for them to manage it.

[00:24:39] So now GP’s can request testing for conditions such as haemochromatosis. So any relatives or yourselves that you need tested, should be able to seek that from the GP. This process, this, pathway is sufficient for most patients with a family history of haemochromatosis. However, there are others who may be experiencing some of those emotions that I touched on earlier.

[00:25:02] Those feelings of guilt or anxiety that people may be experiencing around testing. And therefore there's two possible options of trying to access genetic counselling. The first is the traditional way of requesting a genetic referral from your GP, and it's important that your GP specifies exactly what it is you've got questions about and exactly why it is you need genetic counselling.

[00:25:22] Or otherwise the referral might be bounced back to the GP, you might be given advice about what, how to advise the patient. The other way is that members of haemochromatosis UK from April this year and have access to some genetic counselling as in the next few weeks, I'll begin the beginning, some genetic counselling, sessions and in order to offer support to members of the charity.

[00:25:52] So more information. So if you'd like more information about haemochromatosis, then this can be found on the haemochromatosis website, given on the side. Again, the genetic counselling registration board list genetic counsellors and can be found on the GCRB website. And the association of genetic nurses and counselors is, are, a professional body and has more information about what genetic counseling is and how to train to become a genetic counselor.

[00:26:19] For more information about training to be genetic counselor as well as the AGMC website, there's also the health careers and NHS website, which you get is getting on the side. And finally, the last link that is the British Society Genetic Medicine, which gives links to local genetic service. So I hope you found that helpful if that was a whistle stop tour of what is genetic counselling.