12 Sep, 2019

How do genetic counsellors help people with rare conditions?

Find out how Genetic Counsellors and charities like Genetic Disorders UK help support people with genetic conditions.

We recently sat down with Emily Clarke, a genetic counsellor who first worked in the NHS genetic services and is now part of the team at Genetic Disorders UK; a not-for-profit organisation that is the leading source of information and support for families with a genetic disorder.

We spoke to Emily about her job and the most common questions and worries people are seeking help with. Here’s what she told us about how a genetic counsellor can help:

People wanting to access genetic testing

Emily says that more than anything, people who seek help from Genetic Disorders UK are often looking to access genetic testing for themselves and their children. In these cases, it’s important to understand what genetic testing can do and whether it really is the best next step for the person and their family. A genetic counsellor like Emily will help people make this big decision, talk them through the pros and cons and discuss what they can realistically expect from being tested.

In addition to this, a genetic counsellor will be able to talk to them about their worries and reservations when it comes to genetic testing. They can also work with the family afterwards, and help them to understand the results. Genetic Disorders UK has the capacity to assist people wanting to access the NHS genetic services, however, it can often be a challenge. In many cases, individuals may decide to seek private genetic testing, which is something a genetic counsellor will have experience with and can help you decide on a company, understand what you want to get out of the test and recommend the type of test you'll need to achieve your goals.

Facing a recent diagnosis

Receiving a diagnosis can be a bit of a double edged sword sometimes. Whether it’s come as a shock or after years of searching, suddenly having a name, or a gene, can be overwhelming. Genetic counsellors are here to help you through this process and provide you with more information about rare conditions.

Although receiving a new diagnosis can feel isolating or scary, speaking to a genetic counsellor is a great way to just talk it through with someone who understands what it’s like to be in the same situation. They can offer you information that your clinician might be unable to, as well as put you in touch with support groups or organisations that can help. In addition to all of this, they can also talk you through your options in terms of next steps.

Looking for support

Whether you’ve received a new diagnosis, you’re undiagnosed or you are looking to find out more about a condition that a loved one has, there are lots of organisations, charities, groups and resources out there to support you.

The team at Genetic Disorders UK plays a key part for many people, putting them in touch with an organisation and managing that introduction, which for some people can be very difficult. They also offer support for groups who are starting out, to help them grow and develop, through their grant programme. Emily reminds us that there really isn’t any rush to get in contact with groups or other patients. It’s a part of the journey that some people want straight away and others need to get to a certain point before they’re ready. A genetic counsellor can help you reach the point where you’re ready to reach out to an organisation or join a group and continue to support you through the process.

Those with an undiagnosed condition

There are so many people out there who have gone through lots of testing but still remain undiagnosed. A number of them have been entered into the 100,000 genomes project but there are still plenty who haven’t had their whole genome sequenced. Whole genome sequencing can be vital in receiving a diagnosis in extremely rare cases but a genetic counsellor can help you understand what level of exploration you’ve already had and what the next steps could look like.

Emily says that whatever step is taken next is totally up to the person, whether they want to join research, have further genetic testing or whatever else, it's completely their choice. However, a genetic counsellor is able to provide them with further information about these services and help them understand what could be learned from each.

It’s important that the person hears the pros and cons of each possible next step, for example, if you have your whole genome sequenced, you could find out that you have a rare mutation - something which could help towards a diagnosis - but you could also find some other unexpected results too. A genetic counsellor is experienced in handling these unexpected results and supporting the person if they receive some.

Don’t forget to show your support on Jeans for Genes week!

Jeans for Genes is a fundraiser run by Genetic Disorders UK to help raise awareness for the millions of people with rare conditions around the world. It was previously Jeans for Genes day but has since become a whole week to allow schools and workplaces to join in more easily.

This year, it falls on the 16th-20th of September so don’t forget to get your fundraising pack from jeansforgenes.org and put your jeans on! It’s the main source of income for Genetic Disorder UK and helps the service to continue doing the vital work it does for families with genetic conditions. Sano will definitely be taking part and we are looking forward to it already!

Keep up to date with Genetic Disorders UK on their website, on Facebook and on Twitter and be sure to check out jeansforgenes.org to learn more about Jeans for Genes day.

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