CSER Consortium Progress on Developing Best Practices for Genome Medicine

A paper titled, “The Clinical Sequencing Exploratory Research (CSER) Consortium: Accelerating the Evidence-Based Practice of Genomic Medicine” published in the American Journal of Human Genetics highlights the goals and accomplishments to date of more than 400 clinicians, laboratorians, bioinformaticians, economists, legal scholars and ethicists, in research projects that have recruited over 5,500 patients to investigate the use of genome sequencing in various clinical settings.

 

Among the highlights from the paper:

  • The Consortium has developed sample reports, laboratory workflows, gene lists, consents, protocols and patient materials, all available to the public on the CSER website.
  • The Consortium has defined the “actionability” of genes, along with decision support resources around both primary and secondary genomic findings.
  • The Consortium has advanced the display of genetic information in electronic health records.
  • The Consortium has promoted ideas for best practices for informed consent and genetic counseling for patients who are undergoing sequencing.
  • The Consortium has explored the technical and interpretive challenges involved in sequencing somatic cancer genomes.
  • The Consortium has evaluated current guidelines and focused upon future frameworks for genomic sequencing in children.

The paper is now available online here.