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 to the information.
Listening to Debbie’s story of her journey through diagnosis and treatment, it’s clear that her experience has been a challenging one. Thankfully, Emma’s experience follows current clinical practices and has led to a more positive outcome for her as an individual. It’s important to bear in mind that these differences between Debbie and Emma’s experiences reflect just how far our understanding of genomics and genomic medicine has come in recent years.
We want to thank Debbie and Emma for talking to us so candidly about their story, and about what the diagnosis meant for them.
Next, we’ll be learning about the various reproductive options available to individuals in families with an inherited condition.
Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease
Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease
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