Thank you for having me. I would love to start with that genetic testing is often seen as a significant or clinical decision, but for patients it’s much more personal and emotional. At first it seems like a clear path, like test, get results, take actions, but the truth is it’s complicated. Genetic testing can bring clarity, but it can also open the door to fear, guilt, family conflict, and sometimes even stigma...
Thank you for having me. I would love to start with that genetic testing is often seen as a significant or clinical decision, but for patients it’s much more personal and emotional. At first it seems like a clear path, like test, get results, take actions, but the truth is it’s complicated. Genetic testing can bring clarity, but it can also open the door to fear, guilt, family conflict, and sometimes even stigma. Some family members may want to know, but others may not. And suddenly, what started as a medical test becomes a deeply emotional and social process. But also there are some practical barriers. In many countries, testing isn’t easily accessible or reimbursed. Even today, millions of eligible patients across Europe are not being tested despite clear clinical guidelines and proven survival benefits. I also mentioned in my presentation that ESMO Breast, when I brought this international cohort study that was published in the Lancet, and it was an association between risk-reducing surgeries and survival in young BRCA carriers with breast cancer. And in this publication, it is clear that in low- and middle-income countries, even when women test positive for a BRCA mutation, they often do not undergo preventive mastectomy, despite the fact that we know the procedure can offer a significant survival benefit. I also would love to say that patients need more than a test result. They need support, understanding, and counseling. Risk communication must be clear and adapted to the person in front of you. Some patients overestimate the risk and some others underestimate it. That’s why it’s very important to… Because both of these sides, let us say, help make decisions that match their values, just like their genetic profile. And I also want to mention another very important thing that I also said in my presentation. It was a question from the oncology nurse, Joanne Kelly, that in an article that she published, she started this amazing paper with a question, would you get on an airplane if you were told it had an 87% chance of crashing? That’s what carrying a high risk can feel like. But knowing doesn’t mean fearing, it means having the power to act, to take preventive steps, to protect your health. That’s the difference genetic testing can make when done with care, empathy, and patient involvement.
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