Lay summary
The development of next-generation sequencing technologies over the past decade has revolutionised genetic testing of high-risk cancer patients in a diagnostic setting. New sequencing technologies offer increasingly affordable and more powerful approaches for obtaining detailed genetic information. In genomic medicine, this information is used to direct clinical care of patients and their whānau and has significant implications for disease prevention and treatment. While genomic technologies offer great potential to transform clinical care, interpreting the test results is a major challenge for healthcare professionals. Our proposal aims to address this challenge by developing methods for applying evidence from laboratory assays to determine the clinical significance of DNA sequence variants. Results from this study will have both national and international significance through our various roles in international expert panels that are tasked with improving diagnostic guidelines for clinical and research labs around the world.