Towards a framework for personalized healthcare: lessons learned from the field of rare diseases

Personalized Medicine
Erik Tambuyzer

Abstract

A large percentage of medicines do not work for the patient populations they are intended to treat. Increased knowledge regarding genomics and the underlying biological mechanism of diseases should help us be able to stratify patients into groups of likely responders and nonresponders, and to identify those patients for whom a treatment might do more harm than good. This article sets out different policy perspectives for the healthcare systems, and draws in on 25 years of particular experience from the rare disease and orphan drug field, to illuminate the pathway forward in relation to key implementation aspects of personalized healthcare. In principle, we submit that targeting medicines to preidentified groups for whom we can predict a beneficial outcome is a good thing for everyone - first of all for the patients, but also for all the other stakeholders, including payers, treating physicians and industry - because it has the potential to create sustainable and functioning healthcare systems directed to better health and prevention of disease. Personalized healthcare over time could also lead to shorter drug-development times because of lower rates of failure in late-stage drug development. Using orphan medicines to treat well...Continue Reading

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Citations

Jun 21, 2019·Orphanet Journal of Rare Diseases·Eli M Cahan, Steven L Frick
Apr 26, 2014·Haemophilia : the Official Journal of the World Federation of Hemophilia·F PeyvandiA Srivastava
Dec 31, 2020·BioMed Research International·Kais GhediraImen Rabhi

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Methods Mentioned

BETA
transgenic

Software Mentioned

EURORDIS
EuroGentest

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