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Patient story: Incidental finding

In this video we hear a mother, Sara Byrne, talk about receiving an incidental finding after her daughter had genomic testing.
We first went to genomics testing because when Freya was six months old, I noticed she wasn’t actually doing stuff that a six-month-old should do. So we got referred to the Children’s Hospital. We had several scans– we had brain scans, and obviously, we didn’t get anything back for Freya. They then suggested just having the whole genome sequencing, and that was obviously taking blood samples from my husband, myself, and Freya, to check her chromosomes to see if that was the cause of Freya’s learning difficulties. When we actually went to the hospital, we went into a consultant’s room and they explained everything that was going to happen. It’s really interesting. They actually said it could highlight stuff relating to myself and my husband.
We could, obviously, find out if we’re going to get cancer, what risk we are for later on in life. He did actually ask us, if they did find anything, whether we’d want to be told, because cancer runs in the family– my dad passed away of bowel cancer. We both did say yes. After having the tests, they actually came back with the results, and there was no findings with Freya. But unfortunately, it was myself where they discovered I had got Lynch syndrome. Lynch syndrome– it’s where you can be very high-risk, I think the risk was something like 84% chance– of either bowel cancer or colon cancer. And also for a lady, it was either ovarian cancer or stomach cancer.
It’s only through Freya that it has actually come to light. I’ve had two appointments come through– one to discuss having the cameras both ways, and that is going to be done for every two years. And then in November, I’ve had an appointment come through to see gynaecology to discuss about having a hysterectomy. They’ve been really, really good. If I’ve had a problem, I’ve called them, I’ve changed the appointments and straightaway, they’ve come back to me. My cousin’s actually texted me this morning, and she’s– obviously, now, she wants to go for the tests as well. If I hadn’t have done the test in the first place, I wouldn’t have known anything about it.
Everything is in place now– all the checks can be done– and just makes you feel more at ease.

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.

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Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease

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