In the latest episode of The Genetics Podcast, Sano CEO Patrick Short had a fascinating discussion with Dr. Andrea Gropman, a distinguished expert in paediatric neurology, genetics, and inborn errors of metabolism. Dr. Gropman shared her extensive experience in the field and discussed the challenges and opportunities in integrating genetics and genomics into modern medical practice.
The podcast kicks off with an overview of Dr. Gropman’s research, which focuses on using non-invasive imaging technologies to establish biomarkers for inborn errors of metabolism, particularly urea cycle disorders. She highlighted the evolution of her work, including the adaptation of functional near-infrared spectroscopy (fNIRS) during the COVID-19 pandemic to replace functional MRI, enhancing her research and patient care capabilities.
Dr. Gropman works in the clinic too, and the conversation then moved to the types of patients she typically sees and their diagnostic journeys. While genetic testing has significantly improved over the past 25 years, many patients still do not receive a definitive diagnosis. She emphasised the importance of considering dual diagnoses when a single genetic test does not fully explain a patient’s symptoms. Insurance coverage for genetic testing remains a significant barrier, particularly for adults, often dictating the types of tests that can be performed.
Dr. Gropman elaborated on the innovative imaging techniques she employs, such as magnetic resonance spectroscopy and diffusion tensor imaging, to study the neurological impacts of metabolic disorders. She discussed the potential of wearable technologies like fNIRS to provide continuous monitoring and improve the understanding of cognitive and functional impairments in these patients. The conversation also touched on the potential of whole genome-based newborn screening to identify metabolic disorders early and the ongoing research in this area. Dr. Gropman highlighted the need for rapid diagnostic tools and neuroprotective strategies to mitigate the impact of metabolic crises on the brain.
Dr. Gropman underscored the importance of collaboration across disciplines to advance precision medicine. She called for more bioengineers, translational researchers, and partnerships with drug companies to develop and repurpose therapies for metabolic disorders. She emphasised that the integration of diagnostics into clinical practice and addressing insurance coverage issues are crucial for the future of personalised medicine.
This episode provided a comprehensive overview of the current state and future potential of genetics and genomics in clinical practice. Dr. Gropman’s insights into the diagnostic challenges, innovative imaging techniques, and the promise of newborn screening offer a hopeful outlook for the future of personalised medicine.