Genetic testing and pharmacogenomics: issues for determining the impact to healthcare delivery and costs.

Objectives: To determine the potential impact of genetic testing and pharmacogenomics on healthcare delivery and costs.

Study Design: Literature review.

Methods: We examined 3 examples: (1) BRCA1/2 testing for breast cancer risk, (2) HER2/neu overexpression testing to guide drug treatment in women with breast cancer, and (3) CYP2C9 testing before the use of the anticoagulant warfarin. We discussed each genetic testing example from the perspective of the patient, provider, insurer, industry, government, and society.

Results: The expanded use of genetic information offers many potential clinical benefits, but also many economic challenges. One of those challenges will be managing the impact of genetic testing on healthcare delivery and costs.

Conclusions: Systematic, evidence-based technology assessments and economic evaluations will have to be used to guide the incorporation of genomics into clinical practice. More research also will be needed to assess patient preferences and willingness to pay for genomic technologies; how providers can assess and use genomic technologies; and how the industry, insurers, and government can best balance the relevant costs and benefits.