Background: Mammography has poor sensitivity in dense breast tissue. Retrospective studies suggest that Molecular Breast Imaging (MBI), has superior diagnostic accuracy to mammography in women with very dense breast tissue. Women's perspectives of MBI are unknown, but are crucial to understanding the feasibility of, and routes to, adoption into practice.
View Article and Find Full Text PDFPurpose: Families living with mitochondrial diseases (MD) often endure prolonged diagnostic journeys and invasive testing, yet many remain without a molecular diagnosis. The Australian Genomics Mitochondrial Flagship, comprising clinicians, diagnostic, and research scientists, conducted a prospective national study to identify the diagnostic utility of singleton genomic sequencing using blood samples.
Methods: A total of 140 children and adults living with suspected MD were recruited using modified Nijmegen criteria (MNC) and randomized to either exome + mitochondrial DNA (mtDNA) sequencing or genome sequencing.