Columbia University leads the way in clinical applications of GWAS in pediatric oncology

I’m impressed,so this is a free shout-out:

  • Meet the Girl with Gene NUP214-ABL1.  Doctors cure complicated variant of blood cancer using GWAS and patient’s genome sequence.  If insurance pays, the hospital covers the $8000 for the sequencing.  (This may be a simple loss leader giving that the total daily charge is probably $15,000/day and the girl was in hospital for several months, but still, a nice touch.)

The team was comprised, within Columbia’s bureaucracy, of these components:

  • Precision in Pediatric Sequencing (PIPseq) Program. “Our program is a customized treatment approach that has the potential to propel pediatric cancer care to new levels of success. PIPseq will identify the molecular drivers of each patient’s cancer and use this information to personalize his or her treatment using new, biologically targeted investigational agents.”
  • The Laboratory of Personalized Genomic Medicine.  “A state-of-the-art diagnostic laboratory which performs cutting-edge tests in the areas of genetics, oncology, cytogenomics, and molecular microbiology.”
  • The Institute for Genomic Medicine.  “Create a cohesive, Columbia-wide research and teaching environment for human genetics and genomics. Recent technological advances in genome sequencing and adoption of electronic medical records have paved the way for the creation of patient-centered personalized medicine that will be one of the cornerstones of the medical field.”

What is not completely clear to me is the relationship of these teams to Columbia’s more long-standing Division of Clinical Genetics, which provides “clinical evaluation and risk assessment, genetic counseling and genetic testing for a variety of genetic conditions.”  Obviously there is functional overlap.  Not obvious that the teams actually intersect or work together.  PIPseq and most likely all of the Institute for Genomic Medicine is probably focused strictly on malignant cancer.  There are around 4,000 other genetic conditions which could benefit from a GWAS-based approach, but they do not seem to be in scope.


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