Transitional Challenges Wes/wgs

Question 1

What are the transitional challenges of introducing genomic sequencing pathways in clinical practice?

Answer 1

Improving shared Sara between labs - vus interpretation
Dvpt of bioinformatics packages - range of clinically determined apps
Involve changes to patient pathway? Modest if implemented in targeted manner
Front line test? Filtering/targeting analysis
Phenotypic characterisation- help inform interpretation - infrastructure/processes redesign
Standards- evidenc based
Validation
Consent process
Disclosure of results?
Re-contact/re analysis?

From phg document 2014