Understanding Variants of Uncertain Significance in Genetic Testing

This chapter explores the classification and assessment of variants of uncertain significance (VUS) in genetic testing. It explains the algorithms used by the American College of Medical Genetics and highlights the role of population data and family studies in determining variant pathogenicity.

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In this episode of the Bendy Bodies podcast, Dr. Linda Bluestein, the Hypermobility MD, has an in-depth conversation with Dr. Clair Francomano, a leading expert on connective tissue disorders and Chair of the Medical and Scientific Advisory Board for the Ehlers-Danlos Society. Dr. Francomano shares her insights on diagnosing hypermobile Ehlers-Danlos Syndrome (hEDS) versus hypermobility spectrum disorders (HSD), the current state of genetic testing, and emerging biomarkers (are we close?) that could revolutionize hEDS diagnosis. She discusses the potential connections between EDS, mast cell activation syndrome (MCAS), and postural orthostatic tachycardia syndrome (POTS), offering advice for patients navigating this complex landscape. With updates from ongoing research, this episode is essential listening for those with EDS or related conditions.

Takeaways:

Differences Between hEDS and HSD: Dr. Francomano explains the nuanced distinctions between hypermobile EDS (hEDS) and hypermobility spectrum disorders (HSD), noting that these categories may overlap more than previously thought and might benefit from unified diagnostic criteria in the future.

Genetic Testing Red Flags: While genetic testing can be useful, Dr. Francomano highlights specific “red flags” in family history or personal health that should prompt a referral to a geneticist for further investigation.

Current Limitations of Genetic Testing for hEDS: Unlike other types of EDS, hEDS currently has no identified genetic markers, meaning diagnosis relies on clinical criteria rather than genetic testing alone.

Emerging Biomarkers Show Promise: New studies, such as those exploring fibronectin and calocrine, suggest potential biomarkers for hEDS and HSD, which could transform diagnosis and treatment in the future.

Holistic Approach to Comorbidities: Dr. Francomano discusses how hEDS often presents with comorbidities like POTS and mast cell activation syndrome, recommending a comprehensive, multidisciplinary approach to manage these interconnected symptoms effectively.

Connect with YOUR Bendy Specialist, Dr. Linda Bluestein, MD at https://www.hypermobilitymd.com/.

Thank YOU so much for tuning in. We hope you found this episode informative, inspiring, useful, validating, and enjoyable. Join us on the next episode for YOUR time to level up your knowledge about hypermobility disorders and the people who have them.

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Learn about Dr. Clair Francomano

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Youtube: @DoctorClair

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