Rapid recombination mapping for high-throughput genetic screens in Drosophila.

Mutagenesis screens are a staple of classical genetics. Chemical-induced mutations, however, are often difficult and time-consuming to identify. Here, we report that recombination analysis with pairs of dominant visible markers provides a rapid and reliable strategy to map mutations in Drosophila melanogaster. This method requires only two generations and a total of six crosses in vials to estimate the genetic map position of the responsible lesion with high accuracy. This genetic map position can then be reliably used to identify the mutated gene through complementation testing with an average of nine deficiencies and Sanger sequencing. We have used this approach to successfully map a collection of mutations from an ethyl methanesulfonate-based mutagenesis screen on the third chromosome. We propose that this method also may be used in conjunction with whole-genome sequencing, particularly when multiple independent alleles of the mutated locus are not available. By facilitating the rapid identification of mutated genes, our mapping strategy removes a primary obstacle to the widespread use of powerful chemical mutagenesis screens to understand fundamental biological phenomena.

Self-management support: a new approach still anchored in an old model of health care.

BACKGROUND: Studies show the great potential for self-management to improve health outcomes, yet it is carried out in a limited way by patients and providers. This study investigated the provider perspective of existing self-management support resources in a region of 1.2 million people. Participants included physicians, nurses, nurse practitioners, educators, and program managers. METHODS: Qualitative study using semi-structured, one-on-one interviews. An iterative immersion/crystallization process identified key themes and new questions and was built on a grounded theory approach. Triangulation was used to validate findings by comparing with data from a related provider workshop and presenting significant findings in follow-up interviews with select individuals. RESULTS: There was a lack of understanding about self-management. Existing programs lacked an evidence-based approach and were often entrenched in a single disease-focus model of care, despite a majority of patients served having multiple chronic conditions. A new approach to self-management support was desired, although often anchored in an old model of revolving doors for patients. Self-management was described as burdensome for patients and providers alike. There was disbelief about program effectiveness and frustration about lack of sustainability. INTERPRETATION: Understanding the perspectives of providers engaged in self-management support is a critical first step in developing regional strategies for such support programs. A better understanding of the comprehensive and long-term nature of self-management support is needed. System reform promoting integration of services is essential to enable providers to offer patient-centred self-management support.