Project description:Genome sequencing of the domestic horse and subsequent advancements in the field of equine genomics have led to an explosion in the development of tools for mapping traits and diseases and evaluating gene expression. The objective of this review is to discuss the current progress in the field of equine genomics, with specific emphasis on assembly and analysis of the reference sequence and subsequent sequencing of a Quarter Horse mare; the genomic tools currently available to researchers and their implications in genomic investigations in the horse; the genomics of Mendelian and non-Mendelian traits; the genomics of performance traits and considerations regarding genetic testing in the horse. The whole-genome sequencing of a Quarter Horse mare has provided additional variants within the equine genome that extend past single nucleotide polymorphisms to include insertions/deletions and copy number variants. Equine single nucleotide polymorphism arrays have allowed for the investigation of both simple and complex genetic traits while DNA microarrays have provided a tool for examining gene expression across various tissues and with certain disease conditions. Recently, next-generation sequencing has become more affordable and both whole-genome DNA sequencing and transcriptome-wide RNA sequencing are methodologies that are being applied to equine genomic research. Research in the field of equine genomics continues to expand rapidly as the cost of genotyping and sequencing decreases, resulting in a need for quality bioinformatics software and expertise to appropriately handle both the size and complexity of these data.
Project description:PurposeThe objective of this study was to determine physician perceptions regarding the importance of and comfort with the use of medical genetics and genomics in medical education and practice, as well as physician expectations for medical trainees.MethodsA retrospective survey was sent to physicians employed by a health system associated with a public medical school to assess their perceived training in medical genetics and genomics and their comfort level with ordering genetic testing.MethodsDespite reporting formal genetics training in medical schools, clinicians' comfort with and knowledge in this content area does not meet personal expectations of competency. Though physicians report some discomfort with the use of medical genetics and genomics, the majority also believe that its impact on practice will increase in the next five years. Survey recipients were also asked about their expectations for preparation in the same domains for medical students and incoming residents. The surveyed physicians expect a high level of competency for medical students and incoming residents.MethodsOur study revealed that practicing physicians feel current medical curricula do not produce physicians with the necessary competency in medical genetics and genomics. This is despite physicians' perceived importance of this domain in medical practice. Our findings suggest a need for re-evaluation of medical genetics and genomics education at all levels of training.