Gene Expression Profile Tests for Early Stage Breast Cancer (released June 2009)

This Evidence Guidance Document provides clinical researchers and product developers with guidelines for the design of studies that meet the evidence requirements of health care decision-makers on gene expression profile tests.

“Gene expression profiling” refers to any genomic technique that measures the degree of expression of multiple genes from an individual’s tissue sample. “Gene expression pattern” and “gene expression signature” are equivalent terms to “gene expression profile.” Gene expression profiling tests allow us, for the first time, to get a dynamic view of a tumor’s molecular biology with a “fingerprint” that provides biological clues about its properties and clinical behavior. This has the promise of improving treatment decisions.

Women with early stage breast cancer are faced with difficult treatment decisions. Adjuvant endocrine therapy and cytotoxic chemotherapy significantly improve breast cancer survival some of them, but these treatments are not necessary for all women, and a large proportion of women with early stage breast cancer go into remission with surgery (lumpectomy or mastectomy) and radiation. If a woman knew that her chance of recurrent disease was so low (in other words that she had a favorable prognosis) or, alternatively, that she had a relatively unfavorable prognosis but that the chances that the therapy would work were so low (in other words, that a predictive factor suggests resistance to therapy),  she might conclude that the absolute chance of her benefitting is so small that she might choose to forego the discomfort and attendant risks of chemotherapy.

CMTP contracted with John Hopkins University to develop this EGD in 2009.