Personalised Medicine and the Value of Molecular Diagnostics: Case Studies

Progress in personalised medicine is slower than some had expected, partly because of the science and partly because of insufficient economic incentives, particularly for investing in molecular diagnostics. In this open-access publication, OHE’s Adrian Towse and his co-authors examine nine case studies of diagnostics that have been successful in advancing personalised medicine.

Progress in personalised medicine is slower than some had expected, partly because of the science and partly because of insufficient economic incentives, particularly for investing in molecular diagnostics. In this open-access publication, OHE’s Adrian Towse and his co-authors[1] examine nine case studies of diagnostics that have been successful in advancing personalised medicine. “Success” is defined as delivering “one or more of: information of value; targeting of treatment; improvement in health status; cost offset; and the avoidance of adverse reactions”. The examples of molecular diagnostics chosen for review are:

1. Oncotype Dx® and MammaPrint® to test for the probability of breast cancer recurrence
2. HER2 testing treatment with trastuzumab in breast cancer
3. EGFR mutation testing to define options in the treatment of non-small cell lung cancer (Tarceva® and Iressa®)
4. KRAS mutation testing to determine treatment choices for colorectal cancer
5. BCR-ABL to monitor treatment progress in chronic myleloid leukaemia
6. Testing for the CYP2C19 enzyme in the use of clopidogel (Plavix®) in heart disease
7. Testing for sensitivity to treatment with abacavir in HIV patients
8. Testing to monitor viral load in hepatitis C treatment
9. Risk testing for type 2 diabetes using PreDx®

As the authors point out, this sample of cases illustrates the diversity of approaches in developing molecular diagnostics and the range of challenges posed both by the science and in acceptance and use. The case studies demonstrate progress, but also make clear the negative impact of insufficient emphasis on diagnostics research. Although companies developing drugs may be motivated to invest in tests that contribute to targeted use of their products, few effective incentives are in place to encourage diagnostics firms to conduct substantial independent research. In fact, market failures generally discourage such investment and the authors argue that explicit incentives be created. Moreover, because of the great potential value of personalised medicine for patients and health systems alike, the authors believe that both payers and the public sector should help fund research on the clinical effectiveness of molecular diagnostics.

[1]Open access: Towse, A., Ossa, D., Veenstra, D., Carlson, J. and Garrison, L. (2013) Understanding the economic value of molecular diagnostic tests: Case studies and lessons learned. Journal of Personalized Medicine. 3(4), 288-305. doi: 10.339/jpm3040288.

Professors Towse and Garrison also have recent published an article outlining specific economic incentives necessary to expand research on molecular diagnostics. Click here for our recent blog post about that article.