Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling

Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV. This review describes current knowledge of BAV and associated aortopathy and provides guidance to genetic counselors involved in the care of patients and families with these malformations. The heritability of BAV and recommendations for screening are highlighted. While this review focuses specifically on BAV, the principles are applicable to counseling needs for other LVOTO defects

Anxiolytic Effects of Chronic Intraperitoneal Administration of GABA in Mice

Previous research in humans and non-human animals clearly demonstrates that GABA plays a role in anxiety and anxiety-like behaviors. With rodent models, GABA agonists produce anxiolytic effects under multiple paradigms but the effects of directly administering GABA remain unclear. The current study investigated the effects of chronic peripheral GABA administration on behavior using a common measure of anxiety-like behavior in rodents, the elevated zero maze. Eight-week old male and female Swiss Webster mice were quad-housed and exposed to either cat urine or plain litter as part of a secondary hypothesis regarding the development of a murine model of PTSD. Starting 20 minutes after predator scent exposure, each mouse was given an intraparitonael injection of either GABA (10 mg/kg) or saline once a day for seven days. On the eighth day, each mouse was placed on an elevated zero-maze for recorded observation without an injection. Unfortunately, analysis of initial latency to new arm entrance (sec), exploratory behavior in the open arms (i.e., dipping behavior), and duration in the open arms (sec) found only small sex differences, and did not reveal any effect of GABA or predator scent exposure on anxiety-like behavior. The current findings suggest that the sexes behave differently under stress, as male and female mice displayed differences in their behavioral profiles across the testing sessions. These findings suggest that future studies may be more successful in developing a murine model of PTSD and, subsequently, assessing peripheral GABA administration as a possible treatment by examining male and female mice separately

Facing the Challenge of Genetic Counselors\u27 Need for Rapid Continuing Education About Genomic Technologies

The last couple of decades have seen the rapid advancement of genomic technologies (GT) and their equally rapid adoption into clinical testing. Regardless of specialty, all genetic counselors are unified by the fundamental goal to aid in diagnosing patient\u27s genetic disease underscoring the importance for genetic counselors to maintain an in-depth understanding of GT. The National Society of Genetic Counselors’ (NSGC) GT Special Interest Group conducted an online survey of NSGC members to assess current genomic technologies knowledge gaps. A total of 171 individuals from a variety of primary work settings completed the survey sufficiently to be included in the analysis. The majority of respondents received their degree in genetic counseling in more recent years (2000–2015). On average across all technologies, \u3e70% of respondents deemed knowledge of GTs as important for successful job performance, 55% responded that additional job training in GTs is needed to successfully perform job functions, and only 28% responded that graduate training in GTs was good. Overall, the data show that participating genetic counselors perceive that their knowledge of GTs is inadequate while it is a key component of their jobs. These results have implications both for training programs and for continuing education efforts. These data can be used as a starting point for additional research into GT educational needs of genetic counselors