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sector_ico_Health_trans Human Health

Genomics applied to the management of high-risk AML/myelodysplastic syndromes

  • Project Leaders: Aly Karsan, Marco Marra
  • Institutions: BC Cancer (Previously BC Cancer Agency (BCCA))
  • Budget: $3113484
  • Program/Competition: Genomics and Health: Personalized Medicine Program
  • Genome Centre(s): Genome British Columbia
  • Fiscal Year: 2011
  • Status: Closed

AML affects approximately 200 British Columbians per year, and is fatal without appropriate therapy. Treatment options include chemotherapy and stem cell transplantation. Although stem cell therapy can be a successful treatment for some patients, it is associated with high risk of medical complications, including death and high costs to the health care system. Currently, the BCCA uses chromosomal analysis and 2 molecular markers to determine which treatment a patient receives. There are at least two other genes that harbor mutations in AML that assist in choosing therapy that have already become standard of care according to international guidelines. Recent advances in technology at the BC Cancer Agency’s Genome Sciences Centre have made genomic sequence analysis a possible option for diagnostic assessment. The study used genomic analysis of the diseased cells to identify specific markers to develop a >40 gene panel to inform clinicians responsible for determining the most suitable treatment option for each individual AML patient. This decision making tool has been validated and implemented at the BCCA.