Genetic Testing in EDS with Dr. Paldeep Atwal (Ep 112)

In this episode of the Bendy Bodies podcast, Dr. Linda Bluestein is joined by clinical geneticist Dr. Paldeep Atwal to discuss the complex nature of genetic testing for hypermobile Ehlers-Danlos Syndrome (hEDS) and similar conditions. They emphasize the importance of genetic testing for identifying rare EDS subtypes and the potential pitfalls of variants of uncertain significance (VUSs), which require expert interpretation for accurate diagnosis. Dr. Atwal highlights the importance of understanding gene-gene and gene-environment interactions, noting that they greatly affect how conditions like hEDS manifest. There’s a significant need for further research, particularly as no genetic marker for hEDS exists yet. The conversation warns against direct-to-consumer genetic testing due to possible inaccuracies and related stress, recommending consultation with a geneticist to interpret results. The episode provides critical insights into current and future genetic research related to EDS.