Evaluation of Knowledge Regarding Diagnostic Strategies for Genetic Diseases in Select Residents

Genetics education for physicians has been a popular publication topic in the United States and in Europe for over 20 years. Decreasing numbers of medical genetics professionals and an increasing volume of genetic information has created a dire need for increased genetics training in medical school and in clinical practice. This study aimed to assess how well pediatrics-focused primary care physicians apply their general genetics knowledge to clinical genetic testing using scenario-based questions. We chose to specifically focus on knowledge of the diagnostic applicability of Chromosomal Microarray (CMA) technology in pediatrics because of its recent recommendation by the International Standard Cytogenomic Array (ISCA) Consortium as a first-tier genetic test for individuals with developmental disabilities and/or congenital anomalies. Proficiency in ordering baseline genetic testing was evaluated for eighty-one respondents from four pediatrics-focused residencies (categorical pediatrics, pediatric neurology, internal medicine/pediatrics, and family practice) at two large residency programs in Houston, Texas. Similar to other studies, we found an overall deficit of genetic testing knowledge, especially among family practice residents. Interestingly, residents who elected to complete a genetics rotation in medical school scored significantly better than expected, as well as better than residents who did not elect to complete a genetics rotation. We suspect that the insufficient knowledge among physicians regarding a baseline genetics work-up is leading to redundant (i.e. concurrent karyotype and CMA) and incorrect (i.e. ordering CMA to detect achondroplasia) genetic testing and is contributing to rising health care costs in the United States. Our results provide specific teaching points upon which medical schools can focus education about clinical genetic testing and suggest that increased collaboration between primary care physicians and genetics professionals could benefit patient health care overall.

Interpretation services for immigrants in federally qualified health centers: Barriers, best practices, and suggestions for the future

This paper examines the provision of interpretation services to immigrants with limited English proficiency in Federally Qualified Health Centers, through examination of barriers and best practices. The United States is a nation of immigrants; currently, more than 38 million, or 12.5 percent of the total population, is foreign-born. A substantial portion of this population does not have health insurance or speak English fluently: barriers that reduce the likelihood that they will access traditional health care organizations. This service void is filled by FQHCs, which are non-profit, community-directed providers that remove common barriers to care by serving communities who otherwise confront financial, geographic, language, and cultural barriers. By examining the importance and the implementation of medical interpretation services in FQHCs, suggestions for the future are presented.^