Multiple researchers from Children’s Hospital of Philadelphia (CHOP) were interviewed for a special technology feature for the prominent scientific journal Nature. The special feature highlighted the advances that have taken place in the field of DNA and whole-genome sequencing that allows researchers to pinpoint genetic variations responsible for a wide variety of diseases.
The Roberts Individualized Medical Genetics Center (IMGC) and the Division of Genomic Diagnostics at CHOP were featured in the story. Nancy Spinner, PhD, Chief of the Division of Genomic Diagnostics, Livija Medne, a senior genetic counselor and Co-Director of the IMGC, and Marilyn Li, MD, Vice Chief of the Division of Genomic Diagnostics and Director of Cancer Genomic Diagnostics, provided insight into the advances and subsequent challenges of sequencing.
“We need to get to where genomics is a part of healthcare, as opposed to now, where it’s a part of disease,” Medne said in the article.