This course will enable you to identify and interpret key features of next-generation sequencing and other genomics reports, and to develop the interpretation skills necessary to place results in context for the patient. The structure reflects the feedback protocols of the 100,000 Genomes Project.
Learn from leading genomic experts about:
- Pertinent findings: known or pathogenic variants or driver mutations directly connected to the main disease that led the patient to engage in the project.
- Secondary findings: a limited number of looked-for known, pathogenic mutations of high clinical relevance, confined to a very limited list.
- Parental carrier status to identify double parental carrier status, or X-linked maternal carriers for: sickle cell anaemia, cystic fibrosis, beta-thalassemia, congenital adrenal hyperplasia, 21-hydroxylase deficiency, alpha-thalassemia, spinal muscular atrophy type 1, Duchenne muscular dystrophy, adrenoleukodystrophy, haemophilia A (inversion).
By the end of this module you will be able to:
- Confidently interpret the findings of next-generation sequencing test results and other genomics reports.
- Communicate results in a clear and compassionate manner to a patient.