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I am living proof of the power of genetic testing, sadly others were not so lucky


Thankfully, my extended family will not endure the same journey as I have. My young niece recently had a BRCA test which came back positive. She had a double mastectomy as a preventative measure. While many may be shocked by this news, I am relieved. She is the first in our family to be able to take control of her own health and proactively tackle the disease by arranging for early intervention – an opportunity I was never permitted.
Genetic analysis was also instrumental in the diagnosis of our son Charlie, who has a rare genetic condition. After multiple tests, it wasn’t until he underwent an array test which tested a larger part of his genome that it was discovered he had a deletion of the SMARCA2 gene. But it took another 10 years before Charlie was finally diagnosed with Nicolaides-Baraitser Syndrome (NCBRS). This syndrome has been known for many years, but there was simply no genetic staff or resourcing available to look at his results as new information on his syndr ....

Nuala Ryan , Department Of Health , Nicolaides Baraitser Syndrome , நுவால ரியான் , துறை ஆஃப் ஆரோக்கியம் ,