Capturing data. While genetic analysis can be performed and investigated on an industrial scale in thousands of individuals in parallel, the analysis of clinical data is frequently still the domain of manual data curation. Clinical data is typically collected in a non-standardized way, which makes it difficult for information generated in a clinical context to be used in a systematic data analysis as can be performed with genomic data. However, the tide is turning, and we are slowly coming around to the idea that clinical data also requires the same degree of standardization in order to be used at scale. For none of the epilepsies is such standardization more important than for the rare epilepsies, which include many of the genetic epilepsies. Our lab has been working on frameworks and methods to allow for this kind of analysis in genetic epilepsies. Here is a brief summary of what it actually means to “make data speak”, which has become the mission statement of our lab. Continue reading
Category Archives: healthcare analytics
Ten steps ahead while six feet apart – telemedicine in child neurology
Telehealth. Yes, looking at my last post, this blog has been silent for a while. With the COVID-19 pandemic ongoing, it has been difficult to find a good launching point to write about genetic epilepsies again without somehow feeling that I’m missing the point with regards to the major challenges that the epilepsy genetic community is facing in 2020. But was has actually happened in epilepsy genetics in the United States during the pandemic? In parallel to the dramatic medical issues at the frontline, something very interesting has happened in the background – the shift from in-person medicine to telemedicine, including the vast majority of outpatient visits in child neurology. Telemedicine, remote healthcare services that include audio and video equipment, has long been technically feasible, but has led a niche existence due to licensing restrictions and lack of reimbursement. However, this all changed quickly during the COVID-19 pandemic. But did this transition work? Is telemedicine really as effective as suggested and were we able to provide care along the entire spectrum of disorders in child neurology, including the genetic epilepsies? In a new publication in Neurology, we analyzed more than 2,500 telehealth visits in child neurology, facilitated by a new healthcare analytics pipeline that we built in response to the challenges of the telemedicine transition. Continue reading
