Which test is the right test? In clinical practice, determining an appropriate genetic testing strategy in the evaluation of a patient with unexplained epilepsy is often inconsistent and left to the treating provider, given the lack of evidence-based guidelines. Oftentimes external factors, such as insurance hurdles, dictate the genetic testing that can be ordered. A recent meta-analysis in Neurology attempts to answer the question about which genetic test is most cost-effective in patients with epilepsy, which may aid in the decision making when considering a genetic evaluation of a person with epilepsy. Continue reading
Psychosocial implications of uncertainty. As navigators of genetic testing, genetic counselors have seen it all – smooth seas, choppy waters and even the rare tsunami. Genetic testing sounds, well, so promising. Huge gene panels for epilepsy, whole exome sequencing – guaranteed to find an answer, right? Wrong. And let’s not even talk about secondary (incidental) findings, variants of uncertain significance and (gulp) non-paternity. While our technology has changed, navigating the choppy waters of psychosocial issues in genetic testing has not. Previous EpiGC posts to this blog have highlighted the challenges inherent to interpreting variants of uncertain significance. Now let’s talk about the psychosocial implications of dealing with uncertainty.