Patient story: Incidental finding

As we learned in the previous step, genomic testing can uncover unexpected results. But how can these impact on a family?

In this video we hear a mother, Sara Byrne, talk about the time her daughter Freya received genomic testing to try to identify the cause of her learning disabilities. This testing looked not only at Freya’s genome, but at her parents’ genomes as well, to allow comparisons between them.

After the test results came back, it was not Freya but Sara herself who was identified as having a rare condition: Lynch syndrome, which predisposes to cancer.

Sara went on to explain the importance of consent in this case – how clinicians made the family aware that incidental findings may be found and explained the impact this could have on them. Following her diagnosis, Sara is considering her options to reduce her risk of cancer through regular screening and a possible hysterectomy. Her wider family members are also interested in being tested so that they have more clarity.

In her own words, “only through Freya has it all come to light”.

We would like to thank Sara for sharing her story with us.

Different cases, different outcomes

Although Sara’s story has had a largely positive impact for her and her family, not all incidental findings are the same, and they can be extremely distressing. It is important to treat each situation with care and ensure that the family understands the potential implications of any test.

Note: As this testing was carried out as part of the 100,000 Genomes Project, Sara opted to have her genome analysed to look for clinically actionable variants, something not currently done routinely within the NHS Genomic Medicine Service. However, this type of incidental finding may still occur in routine testing.

Talking point

Sara’s story provides us with an example of how an incidental finding can have a positive impact on a patient and their family. However, the outcome of an incidental finding can also be negative, for a variety of reasons. Can you think of some of the ways in which an incidental finding might have a negative impact on a patient and their family?

In the next section, we’ll be moving on to talk about the UK’s genomics infrastructure, where you sit within it and what you need to know about it.