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Payer focus in the personalised world of oncology and orphan diseases

Personalised medicine is transforming disease understanding and many traditional diagnoses may be fundamentally revised based on the new scientific understanding
Thought Leaders

The National Human Genome Research Institute defines personalised medicine as 'an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment'.  

Oncology has been associated with personalised medicine for some time and, more recently, the use of biomarkers has been able to identify sub groups of patients for whom treatments will be more effective (eg Herceptin in HER2+ breast cancer, Iressa and Tarceva in EGFR mutation+ non-small cell lung cancer and Glivec in Philadelphia chromosome+ CML).

Meanwhile, orphan diseases, eg the lysosomal storage disorders (Fabry, Gaucher, Pompe, Tay-Sachs and others) are increasingly using specific treatments targeted at replacing key enzymes caused by a genetic defect in very small patient populations.

Personalised medicine and orphan drugs have a number of overlaps and commonalities:

  • They potentially treat rare and life-threatening diseases
  • They are targeted treatments 
  • They have unique or significant benefits
  • Successful treatment is linked to diagnosis 
  • They may be disease modifying treatments 
  • Their dosing may be individualised
  • They have small targeted patient groups - and thus are highly patient-centric
  • They have high R&D costs
  • They are areas where significant physician and patient education is required.

This individualised approach to treatment comes at a high price and, unsurprisingly, cost-saving measures are increasingly being introduced. The UK, in particular, is adopting 'no-effect, no-pay' strategies, whereby treatment is paid for only if patients show clinical benefit.  

The Netherlands recently tried to withdraw public funding for late onset Fabry Disease and late onset Pompe disease on the grounds that there was limited cost per QALY benefit to these sub groups of patients. The initiative was withdrawn in the face of public outcry, but such arguments against the use of costly treatments for rare conditions are likely to surface more often as the demand for limited financial resources becomes more intense.  

Indeed, some stakeholders have speculated that the growing trend towards targeted therapies and personalised medicine could shake up the orphan drug incentive schemes and restrict them to segmented patient populations. This may be a double-edged sword for the pharmaceutical industry, as taking this approach further could mean that sub groups of more common diseases are identified that meet the current criteria for orphan designation status, but within the disease usage is reduced.

Personalisation looked easy and straightforward, but it is bringing money challenges we need to watch carefully

There are also implications for us as market researchers:

  • Orphan drug use may be restricted to those groups for whom significant clinical benefit is demonstrated. It will be very important for market research to track payers' views and behaviours on the criteria for segmentation in order to identify success so that trials can be designed appropriately
  • As the power of the patient voice increases, particularly if it is believed that access is being restricted unfairly to some subgroups, it will be important for market research to understand not just payers' views, but the political pressures that they are under and how this is changing. Our understanding may be enhanced by putting payers and patients together in market research sessions - we already know that having physicians and payers in the same sessions uncovers insights
  • Reduced drug costs will have to be balanced with increased testing costs for more accurate personalisation. There is the likelihood of a paradigm shift in payer priorities which market research will need to monitor closely.

Personalisation, in concept, looked easy and straightforward for payers. However, in reality it is bringing money challenges we need to watch carefully.

Article by
Caroline Mathie

Head of the Orphan Disease Specialist Research Group at THE PLANNING SHOP international. Email her

17th May 2013

From: Sales, Marketing, Healthcare



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