INTRODUCTION: Doubts have been expressed about whether standard methods of health technology assessment are suitable for the evaluation of drugs for rare diseases. Under conditions of rarity, it may be more difficult to conduct large randomized trials in order to gather adequate evidence on efficacy, and the standard methods of economic evaluation may not adequately reflect societal preferences for the treatment of serious and/or life-threatening rare diseases. METHODS: A roundtable was held at the University of Toronto Joint Centre for Bioethics on February 18, 2008 to address these issues. While the focus was on evaluation and reimbursement decision-making for rare cancers, the discussion was broadened to consider the place of evidence and values in considering public reimbursement of drugs prescribed for rare disorders more generally. DISCUSSION: This paper explores the relevant issues in more detail, using the example of a new drug for treatment of renal cell carcinoma. CONCLUSION: There should be a greater commitment by reimbursement agencies to a fair and transparent decision-making process with appropriate community input. Criteria should be developed to validate surrogate markers for rare diseases. It should also be acknowledged that the traditional measures of benefit in economic studies do not incorporate all elements of social value. The need should be recognized to balance equity with an efficient use of resources.
INTRODUCTION: Doubts have been expressed about whether standard methods of health technology assessment are suitable for the evaluation of drugs for rare diseases. Under conditions of rarity, it may be more difficult to conduct large randomized trials in order to gather adequate evidence on efficacy, and the standard methods of economic evaluation may not adequately reflect societal preferences for the treatment of serious and/or life-threatening rare diseases. METHODS: A roundtable was held at the University of Toronto Joint Centre for Bioethics on February 18, 2008 to address these issues. While the focus was on evaluation and reimbursement decision-making for rare cancers, the discussion was broadened to consider the place of evidence and values in considering public reimbursement of drugs prescribed for rare disorders more generally. DISCUSSION: This paper explores the relevant issues in more detail, using the example of a new drug for treatment of renal cell carcinoma. CONCLUSION: There should be a greater commitment by reimbursement agencies to a fair and transparent decision-making process with appropriate community input. Criteria should be developed to validate surrogate markers for rare diseases. It should also be acknowledged that the traditional measures of benefit in economic studies do not incorporate all elements of social value. The need should be recognized to balance equity with an efficient use of resources.