View Only- The Cost-effective Medical Exome Based Diagnostic Test in China and its Clinical Utility in Determining Treatment Options for Patients with Short Stature or Disorder of Sex Development-The Cost-effective Medical Exome Based Diagnostic Test in China and its Clinical Utility in Determining Treatment Options for Patients with Short Stature or Disorder of Sex Development

The Cost-effective Medical Exome Based Diagnostic Test in China and its Clinical Utility in Determining Treatment Options for Patients with Short Stature or Disorder of Sex Development

Back to course

Video Transcription

Video Summary

This video is a summary of a webinar titled "The Cost-Effective Medical Exome-Based Diagnostic Test in China and its Clinical Utility in Determining Treatment Options for Patients with Short Stature or Disorder of Sex Development." The webinar was hosted by the ACMG Genomics Case Conference and presented by Dr. Ye-Ping Shen, Director of the Department of Medical Genetics at Shanghai Children's Medical Center, and his colleagues. The webinar discussed the challenges and advantages of implementing next-generation sequencing-based clinical diagnostic testing in China, particularly for patients with short stature or disorder of sex development. They described the proband-only medical exome sequencing (POMES) approach, which focuses on analyzing only the medical exome, the known Mendelian disorder genes, to reduce costs and increase efficiency. They presented several case studies that demonstrated the diagnostic yield and clinical utility of POMES in identifying genetic variants and guiding treatment options for patients. The presenters discussed the limitations of POMES, such as the lack of well-trained specialists and the need for a larger reference database for the Chinese population. They also highlighted the importance of clinical evaluation and post-test counseling in interpreting and applying the results of POMES. The webinar emphasized the need for further training of clinicians and the establishment of genetic counseling programs in China. It was supported by an unrestricted educational grant from Kaixin Bioinformatics and the Ingenuity Clinical Decision Support Platform.

Asset Subtitle

Hosted by Shanghai Children’s Medical Center

Keywords

Cost-Effective Medical Exome-Based Diagnostic Test

China

Clinical Utility

Short Stature

Disorder of Sex Development

Next-Generation Sequencing

Proband-Only Medical Exome Sequencing

Genetic Variants

Treatment Options