Publications by authors named "C Giffney"
Article Synopsis
- In the Republic of Ireland, there are long waiting times for BRCA1/BRCA2 genetic testing due to scarce resources in Clinical Genetics, often exceeding a year.
- The pilot project aimed to "mainstream" this genetic testing in oncology/surgical clinics, inspired by successful models in other countries, and was carried out at three tertiary centres from January to July 2017.
- Out of 101 patients tested, 12% were found to have pathogenic variants, leading to appropriate referrals to Clinical Genetics, although challenges regarding time pressures and communication of results emerged during the process.
The increased availability of next generation sequencing (NGS) and multi gene panel testing has resulted in more frequent TP53 testing of families that do not meet classic testing criteria. We investigated testing criteria, family history and result outcome in a cohort of Irish probands undergoing TP53 full sequencing. All TP53 test requests processed through the national genetic testing laboratory between 2012 and 2014 were retrospectively reviewed.
View Article and Find Full Text PDFIn the United Kingdom, genetic counsellors work together with clinical geneticists and clinical scientist colleagues within specialist genetics services, but they also often work in multidisciplinary teams (MDTs) outside of such services. There, they contribute genetic knowledge together with expert understanding of how to communicate genetic information effectively. They can offer education and support to the MDT, while providing management advice for both affected patients and the extended at-risk family members.
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