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 …
Course: Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease
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, …
These articles are from the online course:
Genomics in the NHS: A Clinician's Guide to Genomic Testing for Rare Disease