ABSTRACT
Prior research has demonstrated that genomic medicine has promise for improving health outcomes. As a result, it is beginning to emerge into the clinical practice for selected indications including pharmacogenomics, precision oncology, and diagnosis of complex conditions suspected be genetic. The Outcomes Working Group (OWG) identified another National Human Genome Research Institute-funded project, the Clinical Genome Resource that had a relevant activity that could be used to move outcomes harmonization forward. Produce evidence-based reports and semi-quantitative metric scores using a standardized method for nominated gene-disease pairs. Hereditary breast and ovarian cancer syndrome (HBOC), associated with BRCA1/2, illustrates an interesting difference in the OWG and Actionability Working Group (AWG) was approaches. The OWG developed outcomes for HBOC as a whole, while the AWG has organized this around the two primary cancer types, breast, and ovarian and associated gynecologic cancers. There is one other issue with the aortopathies that complicates outcome development.
