Health professionals questioning each other

The professional view: Kate’s story

As part of #GenomicsConversation week, Professor Kate Tatton-Brown shares her personal experience of genomic testing and how it feels for a healthcare professional to be a patient

Two years ago, consultant clinical geneticist and Professor Kate Tatton-Brown discovered that she carried the familial hypercholesterolaemia (FH) gene variant.

Her suspicions were raised after delving into her family history and identifying a pattern on the maternal side. Her maternal grandfather died in his early 50s from a heart attack, and Kate knew that many of his siblings also had cardiovascular disease. within her family set Kate’s geneticist alarm bells ringing.

On top of all this, Kate knew that her mum had high cholesterol levels. And so, despite having a healthy diet and lifestyle, she decided to investigate her own cholesterol levels. Sure enough, they were sky high.

Implications for the family

Following the uncovering of her family history and her own high cholesterol test results, Kate asked for a referral to the cardiology clinic at St George’s Hospital in London. The team there carried out a genomic test and, after a long wait, a positive result came back: they had found a variant in the APOB gene, which confirmed that Kate has FH.

This result had implications for Kate’s children and wider family members. Following her result, her sister had her own cholesterol levels checked; they were not high enough to warrant testing, so it is unlikely that she has inherited FH.

Both Kate’s daughters were also tested. One of her daughters’ tests showed that she has inherited the APOB variant, which was consistent with her surprisingly high cholesterol levels. Kate’s hope is that knowing she has FH will help influence her future lifestyle choices.

A patient’s view of the testing process

Having spent many years guiding patients through the genomic testing process, Kate found herself on the patient side while being tested for FH. Luckily, she understood enough about the process and knew where to go for help, but she’s aware that this may not be the case for all patients.

While Kate didn’t have any formal genetic counselling prior to her test, she did have conversations with her mum, sister and children about what her positive test meant for them.  This is something, she says, that must be remembered by healthcare professionals and shared with patients: a genomic test can have implications not only for the patient, but for their wider family.

The results of Kate’s test took some time to come back, a possibility that she was not made aware of at the time of the test. With this experience in mind, she will now ensure that her own patients are aware of the wait time for results.

Patients have often spoken to Kate about their guilt at having passed on a genetic variant to their children – something Kate experienced first-hand when her results and those of her daughter came back positive. However, as she explains, modern medicine gives you an extraordinary window into your genome that allows you to identify these risk factors and mitigate them as much as possible. When it comes to conditions like FH, Kate explains that it is better to know than not, because there are a multitude of management options.