The Wild West. The diagnostic genetic testing landscape in 2016 is a paradox. In theory genetic testing has never been more widely available clinically, with over 20 diagnostic laboratories in the US alone offering a variety of genetic testing options for patients with epilepsy, ranging from single gene testing to NGS panels to whole exome sequencing. However, access to and reimbursement of genetic services varies widely, with no consensus on an approach to testing or professional guidelines to aide clinicians. Here is our brief guide to epilepsy genetic test selection for busy clinicians. Continue reading
Author Archives: Katie Helbig
Three Things I’ve Learned from Living with the Channelopathist
Today is a big day here at Beyond the Ion Channel – it’s Ingo’s birthday. I clearly remember celebrating Ingo’s birthday a decade ago, while we were living and working together in Melbourne. Back then, life was a little simpler. We were just beginning our careers together at the Epilepsy Research Centre and were a little more fresh faced and greener behind the ears. The GGEs were still the IGEs. Mutation screening was done via dHPLC. Family studies were still the way to go. Genetics was largely confined to the research realm and not a possibility for most patients in clinical practice. A lot has changed in epilepsy genetics in 10 years, and I have been fortunate to have my career run alongside Ingo’s during that time, sometimes running parallel to his and sometimes intertwining. We’ve learned a lot from each other. So what do you give someone like Ingo for his birthday? A blog post, of course. But don’t worry, it won’t be overly sentimental. As Ingo mentioned before, that’s not our style. Here are three things I’ve learned about epilepsy genetics from Ingo over the last ten years. Continue reading
Charting a bioethical gray zone: genotype-driven research recruitment
The need for re-contact. Genotype-driven research recruitment refers to the inclusion of research participants in future genetic studies based on the findings from previous studies. For example, deep sequencing efforts within the EuroEPINOMICS Consortium may generate potentially interesting novel variants that warrant further investigation. In some cases, it might be necessary to obtain more phenotypic information, in other cases, segregation in the family might be of interest. Since many variants are rare in the general population, genotype-driven approaches are particularly attractive, i.e. research participants are selected based on genetic findings. This so-called “bottom up” approach allows for targeted studies without the time-consuming and expensive step of re-screening large patient cohorts. In the future, genotype-driven research efforts will likely become increasingly common, since it is unlikely that large-scale genomic studies alone will be able to sufficiently characterize rare genetic variants. However, approaching patients based on genetic research data raises important questions. Continue reading
Next Generation Ethics: Struggling with petabyte consent forms
Everyone involved in research with human subjects knows about the importance of informed consent. The purpose of informed consent is to promote educated decision-making and voluntary participation in research. Whether or not you’re aware of the fundamental ethical principles underlying the process (patient autonomy and protection from harm, for those keeping score at home), you at least know that you have to get the study participant to sign the form. Continue reading
