Molecular Diagnostics and Personalized Medicine: Value-Assessed Opportunities for Multiple Stakeholders

Abstract

Acceptance and operation of a personalized medicine strategy within modern healthcare requires that all key stakeholders are able to understand and assess the benefits offered by the approach. In addition to the technological aspects of molecular diagnostics, as enablers of personalized medicine, stakeholders must also be apprised of the value-adding effects of the strategy in terms of improved treatment efficacy and health economics. This review attempts to cover these broad stakeholder interests by articulating the scientific feasibility, the beneficial medical outcomes and the commercial attractiveness offered by the integration of molecular diagnostics and personalized medicine into healthcare systems, principally by demonstrating how technology integration and value addition can be robustly assessed and represented.

Aligning the Economic Value of Companion Diagnostics and Stratified Medicines

“…While it is recognized that the pharma partner (Rx) and the diagnostic partner (Dx) conduct their business on vastly different scales (Rx $1000bn, relevant Dx $10bn sales per annum [ 14 , 15 ], companion diagnostic deals are very capital-intensive for the diagnostic partner. Economic quantitation of these benefits over a 20-year period suggests a potential net present value (NPV) uplift of $1.8 bn, from $900 M to $2.7 bn [ 7 , 16 ] (see Figure 1 ). Larger pharma partners recognize that they need to provide financial stability to their test providers to ensure that they are viable through the development and commercialization stages.…”

“…To more accurately gauge the economic relationship between Rx-Dx partners, we have used value-modeling to look at how simple fee-for-service relationships might translate into risk-sharing relationships [ 7 , 10 , 16 ]. The structures of these various models are shown in Figure 2 .…”

Evaluation of Optical Detection Platforms for Multiplexed Detection of Proteins and the Need for Point-of-Care Biosensors for Clinical Use

“…Multiplexing is important because disease and therapeutic response often involve the inter-play between many biological processes, and hence proteins rather than a single entity [ 11 ]. DNA and proteomic microarrays have been crucial in identifying new biomarkers and will continue to play a significant role in their routine detection [ 4 , 5 , 12 – 16 ]. Many efforts have been made to understand the biological basis of disease by studying gene expression, but the relationship between expression of a gene and the onset of disease remains unclear.…”

“…The relationship between protein profiles and disease onset, however, is becoming better understood [ 17 ]. As there are only around 25,000 genes in the human genome and genes code for multiple variants of proteins, researchers often use proteomics, rather than genes, to provide insight into diseases [ 18 ] and new analytical tools can assist in this process [ 5 , 6 ]. Multiplexing is important for immunoassays, for example, a biochemical technique that uses antibodies for measuring the amount of a specific macromolecule present in a sample.…”

Stratified Medicine and Reimbursement Issues

“…While the SM approach has drawn great attention in the medical community and the industry, there have been only a few clinical and public health applications in SM to date (Garrison et al, 2007; Blair, 2010; Meckley and Neumann, 2010). Often named examples are: HER2/neu – Herceptin, KRAS/EGFR – Vectibix and Erbitux, predictive for efficacy; UGT1A1/Irinotecan, HLA-5701/Ziagen (HIV), predictive for safety; Oncotype DX and MammaPrint prognostic for adjuvant chemotherapy.…”