2021 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Elsevier

Pdf Summary

The document provides an extensive overview of various genetic and rare disorders, diagnostic methodologies, treatment approaches, and the integration of genetic testing into clinical practice, emphasizing its utility across multiple specialties for precision medicine initiatives. Major points include:<br /><br />1. **Diagnostic Approaches:**<br />   - **Whole Exome Sequencing (WES) and Genetic Testing**: WES is underscored as a pivotal tool for diagnosing complex genetic conditions, especially in pediatric patients and those with multi-system presentations. Genetic diversity and the occurrence of dual diagnoses highlight the complexity of these disorders.<br />   - **Literature Review**: A comprehensive review of cases associated with multiple myeloma, particularly those presenting with corneal crystals, highlights their common systemic features and the efficacy of multidisciplinary diagnostic approaches.<br /><br />2. **Case Reports and Studies:**<br />   - Unique genetic conditions like Smith-Kingsmore Syndrome and Rubenstein-Taybi Syndrome are illustrated, focusing on novel mutations and expanded phenotype spectra. Cases emphasize the importance of early genetic counseling and diagnostic interventions.<br /><br />3. **Treatment and Management Protocols:**<br />   - Novel therapeutic strategies and clinical trials outcomes are presented, including gene therapy for Mucopolysaccharidosis Type II, and management protocols for conditions like Pompe disease and Cobalamin C Deficiency.<br />   - The importance of addressing the underlying cause in systemic conditions like multiple myeloma to improve patient outcomes is emphasized.<br /><br />4. **Pediatric and Neonatal Focus:**<br />   - Rapid genomic sequencing in neonates for early diagnosis and management of genetic disorders is highlighted, illustrating significant clinical utility in critical care settings.<br /><br />5. **Ophthalmic and Systemic Manifestations**:<br />   - Case reviews suggest that clinicians consider systemic conditions like multiple myeloma in patients presenting with ocular abnormalities, promoting early recognition and treatment to manage systemic implications.<br /><br />6. **Psychological Impacts of Early Diagnosis:**<br />   - The study finds elevated depression and stress levels among parents of children diagnosed with lysosomal storage disorders and X-ALD via newborn screening (NBS), suggesting the mental health benefits of early diagnosis through NBS.<br /><br />7. **Corporate Wellness Programs:**<br />   - Genetic testing vendors for corporate wellness programs are categorized into "Medically Actionable" and "Health & Wellness," highlighting varying focuses on clinical relevance and employee well-being, respectively. The need for employers to balance benefits with privacy concerns in choosing these programs is discussed.<br /><br />The document ultimately underscores advanced genetic testing’s critical role in diagnosing rare disorders, advocating for multidisciplinary care and integrated genetic services for improved health outcomes.

Asset Subtitle

SSN 1096-7192
Volume 132, Issue S1, April 2021

Keywords

genetic disorders

diagnostic methodologies

precision medicine

whole exome sequencing

novel mutations

gene therapy

pediatric genetic testing

systemic conditions

psychological impacts

corporate wellness programs