Have you ever wondered how it would feel to receive a genetic diagnosis? Would you tell your family, and if so, how would you go about this? Patient Reference Panel member Julie Young has shared her story in a podcast with Dr. Rachel Horton and Dr. Gabrielle Samuel which gives us a compelling insight into this very scenario.
Julie Young is a 48-year-old woman who received a diagnosis of Lynch Syndrome MSH6 variant, following her diagnosis of rectal cancer in 2018. Lynch syndrome, previously referred to as Hereditary Nonpolyposis colorectal cancer (HNPCC), is a genetic condition that causes an individual to be predisposed to developing colorectal cancer, along with cancers such as uterine and stomach for example. Lynch Syndrome causes a fault within your DNA makeup which allows potentially cancerous cells to grow instead of destroying them (CDC, 2023).
Julie is a member of the CanGene-CanVar Patient Reference Panel (PRP) who are involved with, and provide oversight on the delivery of, different activities across the programme. The group are particularly involved in work package 4, co-designing a template resource with a group of clinicians and psycho-social researchers, to support patients making choices after a gene fault has been identified that increases their risk of developing cancer. As part of her work in the PRP, Julie volunteered to undertake a work placement to The Ethox Centre, Oxford. This gave her the opportunity to think about the ethical issues involved with communicating a genetic diagnosis. She met with Prof. Anneke Lucassen, Prof. Mike Parker and Dr. Kate Sahan, among others, who are part of work Package 6, dealing with ethics, governance and policy relating to the programme. An account of her week spent in Oxford can be found here.
Following her placement, Julie met with Dr. Rachel Horton and Dr. Gabrielle Samuel to record a podcast episode which spoke about what it might be like to navigate a genetic diagnosis and sharing this with family members. Julie did not find her diagnosis to be particularly shocking as her family has a long history of cancer diagnoses. In fact, she found her diagnosis to be relieving as she was not the cause of her developing rectal cancer. Julie felt a personal responsibility to share her diagnosis with her family so that they could also be tested and potentially avoid a cancer diagnosis like hers.
It was an easy decision for her to make to give her family members letters written by her genetic counsellor explaining the genetic diagnosis and further steps they could take. Although, it proved challenging due to a break in family ties throughout the years. She tracked down some estranged family members to share the news with them. Whether her family members decided to continue with testing or not, Julie felt that she had done her duty. Family members all had different reactions to the news, some going for testing immediately and others did not continue with any testing or screening. Julie was satisfied that she had done all that she could to help the other members of her family.
You can listen to Julie speak more about her journey on the insightful podcast here. Julie finishes the podcast with a very inspiring final thought: “Don’t be afraid of what might be, nothings for certain in life…The more awareness we raise, and the more data we gather, the greater the prevention of disease. But in the instance where there is illness, there will also be better treatments. So, it’s a win-win for people. And if you only encourage them, that will be a good job done.”
Centres for disease Control and Prevention (2023) Lynch syndrome. Available at: https://www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm#:~:text=Lynch%20syndrome%2C%20also%20known%20as,age%20(before%2050)%2C%20including
Written by Ruth McCarthy, Research Administrator