Two Webinars Offered by Southern Regional AHEC with Duke University
Southern Regional AHEC, in partnership with Duke University, is hosting a live webinar highlighting rare genetic diagnoses titled “Next-generation Genomic Sequencing for Rare Genetic Diagnoses: Engagement with Community Health Providers.”
Program Description
For this interactive educational program, the objectives are two-fold. The first is to discuss current diagnostic approaches to patients presenting with clinical features suggestive of a genetic disorder and what are the “next steps” if clinical genetic testing does not result in a diagnosis for your patient. The second objective is to learn from providers about how important access to clinical genetics is to their practice, their experiences with referring patients to clinical genetics, barriers they have encountered as well as possible approaches to mitigating barriers.
Objectives
Upon completion of this program, participants will be able to:
- Identify genomic sequencing technologies, clinical applications, and interpretation of genomic sequencing.
- Discuss the benefits of genomic sequencing for patients and management of patients who undergo genomic sequencing.
- Identify patient phenotypes that would most benefit from genomic sequencing.
- Review the use of genomic information for direct patient care.
- Review barriers beyond clinical care that affect patients in rural areas participating in genetic evaluations in genomic sequencing.
- Analyze modalities that would improve access to genomic medicine for the patients
Speaker
Dr. Vandana Shashi is a board-certified Clinical Geneticist with over two decades of experience in rare/ultra-rare genetic disorders. She is the Principal Investigator of the NIH Undiagnosed Diseases Network (UDN) Clinical Site at Duke, wherein patients from all over the USA, with difficult to diagnose rare/ultra-rare diseases are evaluated for diagnostic purposes. Next- generation genomic sequencing (NGS) inclusive of exome and genome sequencing for diagnoses is a major focus of the UDN and under Dr. Shashi’s leadership the Duke UDN clinical site has been successful in diagnosing 40% of patients who had not been able to obtain diagnoses previously, with a consequent impact on medical management. Dr. Shashi is passionate about findings ways for patients with health disparities to also participate in the UDN. She looks forward to engaging with providers in rural NC to discuss cutting-edge genomic technologies for their patients with rare/ultra-rare phenotypes and to identify barriers that they perceive result in low participation by patients with health disparities.