Bengaluru: Dr. Roshan Daniel, Clinical Geneticist at KIMSHEALTH, was invited as faculty for the recent CME on Neurogenetics conducted by MS Ramaiah University. His session, titled “Approach to Genetic Testing in Neurogenetics and its Limitations”, brought forward practical insights into the role of genetic testing in neurological disorders.
Dr. Roshan outlined the structured approach required for choosing between different genetic tests — from single-gene analysis and targeted panels to advanced sequencing techniques. He emphasized how the correct choice of test can directly impact diagnosis and patient outcomes.
A highlight of his talk was the discussion on limitations in clinical practice, which drew strong engagement from the audience. Drawing from real-world experience, Dr. Roshan presented several cases where errors in test selection or interpretation had led to missed diagnoses or miscommunication in patient care. He illustrated how reanalysis of sequencing data, careful genotype–phenotype correlation, and cautious interpretation of variants often make the critical difference in reaching an accurate conclusion.
He also cautioned against over-reliance on automated interpretation tools such as Varsome and Franklin, noting that conflicting outputs can mislead clinicians. In addition, he addressed the challenges of reclassifying variants of uncertain significance, the medicolegal dilemmas that sometimes arise, and the risk of falsely attributing pathogenicity to variants without sufficient evidence. His examples included cases involving mitochondrial diseases, chromatinopathies, and structural chromosomal changes, showing how advanced genetic evaluation can refine treatment strategies — particularly in conditions like precision epilepsy.
The CME featured several prominent speakers. Dr. Preetha from St. John’s opened the session with an excellent overview of the basics of genetics, setting the stage for advanced discussions. Other notable contributions came from Dr. Kuna Kalra, Dr. Shridhar Joshi, and Dr. Neerja Reddy, who shared their expertise on diverse aspects of neurogenetics.
Expressing his gratitude, Dr. Roshan thanked Dr. Prabhudev Hiremath and the Department of Neurology at MS Ramaiah University for the invitation. He noted that collaborative forums like these are vital for bridging clinical practice with genetic insights and expressed his hope for further academic partnerships in the future.