P212: Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data

Abstract

3. Identification of hidden anomalies requiring immediate medical attention.Patient 6, presented with minimal Marfan-like features, found to have Marfan syndrome inherited from her "asymptomatic" father.Patient 8 was diagnosed with Marfan syndrome after a further RNA sequencing.Echocardiogram reported urgent cardiovascular complications in all three individuals, prompting immediate referrals to cardiology. 4. Alteration in diagnosis and referral decision.Patient 9 was clinically diagnosed with idiopathic scoliosis, showing Marfan-like cardiovascular features and short stature.ES revealed Noonan syndrome, enabling growth hormone therapy with endocrinologists.Patient 10 experienced similar changes.5. Discontinuation of unnecessary surveillance.Patient 11, diagnosed with idiopathic scoliosis and Marfan-like features, had undergone nine years of postoperative Marfan surveillance.GS revealed Trisomy X, leading to the discontinuation of unnecessary Marfan monitoring, alleviating her emotional burden, and enabling consultations with reproductive specialists.Patients 12 and 13, diagnosed with Trisomy X and 1p34.3 deletion, experienced similar changes.Conclusion: Patients with genetic disorders may be misdiagnosed with congenital or idiopathic spinal deformities.Molecular diagnosis can also be actionable in spinal care, from initiation of multidisciplinary management plan to active and immediate adjustments in surgical and non-surgical treatments for both patients and family members, advancing toward precision orthopedics.

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