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Patient story: Familial BRCA1 testing

In this step, we meet Debbie and her daughter Emma to hear how Debbie’s BRCA1 diagnosis has affected the whole family, and how Emma and her brothers have reacted differently …

Touchpoint 7: Implications for family members

When it comes to genomic testing, it’s important for both the patient and the clinician to consider any impact the results may have on the patient’s family members. Across these …

What is the rare disease pathway?

This week will follow the genomic pathway for the investigation of rare disease and the feedback of results: ‘from bedside to bench to bedside’. We will learn what to do …

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, …