Next-generation DNA sequencing is currently limited by an inability to accurately count the number of input DNA molecules. Molecular counting is particularly needed when accurate quantification is required for diagnostic purposes, such as in single gene non-invasive prenatal testing (sgNIPT) and liquid biopsy. We developed Quantitative Counting Template (QCT) molecular counting to reconstruct the number of input DNA molecules using sequencing data. We then used QCT molecular counting to develop sgNIPTs of sickle cell disease, cystic fibrosis, spinal muscular atrophy, alpha-thalassemia, and beta-thalassemia. The analytical sensitivity and specificity of sgNIPT was >98% and >99%, respectively. Validation of sgNIPTs was further performed with maternal blood samples collected during pregnancy, and sgNIPTs were 100% concordant with newborn follow-up.

Cancer in the adolescent and young adult phase poses additional challenges to this period of development that is crucial to the transition to independence. This report provides a brief review of normal developmental milestones in this age range while highlighting the disruptive effects of cancer. We focus on the psychological burden of cancer in patients aged 15–39 years and explore the application of the total pain model to highlight the psychological/emotional, social, and spiritual aspects of non-physical pain. We also briefly review posttraumatic growth and resilience. Lastly, we provide a review of areas for possible development and future research.

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