Lessons learned from the field of rare diseases PERSPECTIVE in society. The lack of this makes communication discussed further herein. Early detection offers and advances in the policy debate quite challeng- the potential to preserve health and avoid irrevers- ing. Often the concept of personalized healthcare ible damage, with the early institution of monitor- is used negatively, owing to the glamorized pic- ing and treatment, and therefore, may contribute ture painted for genetic tests for designer babies, greatly to improved patient outcomes, but may partner traits for dating or marriage, and ancestry also raise ethical questions such as the diagnosi tests such as for the daughters of Eve, a test that of disease without potential to treat. Progressing determines from which of the so-called seven in diagnostic, and even, preventative testing will daughters of Eve (the first woman) you might require an examination of the current ethical, have descended from (1081 gulatory and reimbursement schemes associated Current personalized healthcare is not solely with such testing and with the related therapy oriented towards monogenic disorders but also paves the way in which new diagnostic and ther- ls personalized really personal? apeutic approaches to common multifactorial Personalized healthcare requires the development ons are emerging [4] of products for targeted patient populations,a The US National Cancer Institute's Trans- task primarily taken up by industry. These thera- lational Research Working Group defines transla- pies will be further personalized in the practice tional research as research that transforms scien- of medicine by the physician, who will be using tific discoveries arising from laboratory, clinical, test information and other knowledge about the or population studies into clinical applications patient at his or her disposal, possibly coming to reduce cancer incidence, morbidity and mor- up with an individual treatment plan for each tality(109). Translational research is a combina- patient, and adapting dosing, treatment regimens tion of data from research in preclinical studies and so on, to that individual patients require- and in human trials with research to adopt best ments. The outcome of personalized healthcare practices. Personalized healthcare is the con- is, therefore, personal. The shared responsibility ept that uses the results of such translational between therapy developer, treating physician and research combined with patients'information, in patient will necessarily lead to a higher degree the delivery of treatment and treatment protocols of co-responsibility, because treatments need to to stratified patient populations. From there, it be developed with individual patient outcomes may be further individualized by physicians and in mind, and will not be standardized for very counselors using individual genetic information. large patient groups as may be the case today with Therefore, we propose to define personalized many treatments. healthcare as the use of modern biology's new Personalized medicine should result in fewer methods and tools that bring the right treatment adverse events [104), and thus should (at least over for the right patient at the right dose and at the the long term) reduce healthcare costs [7]. The right time, in a sustainable way author expects that its application will increase the In the development of personalized health- need of counseling, from diagnosis to treatment care applications, the major challenge will be because the finer details, and the implications of the discovery and validation of biomarkers, espe- certain choices to be made, need to be conveyed cially for multifactorial, common diseases and to the patient. If done right, it may additionally to define patients and patient populations that result in better patient compliance/adherence an be predicted to either react positively to a to treatment because the treatment will work in treatment, or to be susceptible to an unwanted almost all patients, which is a motivating fac adverse reaction or safety issue. tor for the treated patients. This in turn, can be An important component of the delivery of expected to not only lead to a more cost-effective personalized healthcare to patients will be the use of medicines but also to more consistent clini- use of diagnostic tests to identify genetic or pos- cal outcomes. At the same time, the implementa- sibly other variations such as those involving tion will require a higher degree of education of environmental factors, diet, behavior or social treating physicians on an ongoing basis circumstances (61. Those diagnostic tests may be The above described process is already in derived from biomarkers previously used in clin- use in treating rare diseases, where education ical trials, but not all biomarkers are expected to is needed on an almost permanent basis, for gnostIc tests. treating physicians and for the patient. The Diagnostic testing may be able to identify author believes that this, in times of the inter- patients at a very early stage of disease or pre- net patient, will enable physicians to regain a dict preventative measures, the latter not b loser link with their patient, as counseling w. futuremedicine cor 571Perrsppective Tambuyzer Tambuyzer in society. The lack of this makes communication and advances in the policy debate quite challeng￾ing. Often the concept of personalized healthcare is used negatively, owing to the glamorized pic￾ture painted for genetic tests for designer babies, partner traits for dating or marriage, and ancestry tests such as for ‘the daughters of Eve’, a test that determines from which of the so-called seven daughters of Eve (‘the first woman’) you might have descended from [108]. Current personalized healthcare is not solely oriented towards monogenic disorders but also paves the way in which new diagnostic and ther￾apeutic approaches to common multifactorial conditions are emerging [4]. The US National Cancer Institute’s Trans￾lational Research Working Group defines transla￾tional research as ‘research that transforms scien￾tific discoveries arising from laboratory, clinical, or population studies into clinical applications to reduce cancer incidence, morbidity and mor￾tality’ [109]. Translational research is a combina￾tion of data from research in preclinical studies and in human trials with research to adopt best practices. Personalized healthcare is the con￾cept that uses the results of such translational research combined with patients’ information, in the delivery of treatment and treatment protocols to stratified patient populations. From there, it may be further individualized by physicians and counselors using individual genetic information. Therefore, we propose to define personalized healthcare as the use of modern biology’s new methods and tools that bring the right treatment for the right patient at the right dose and at the right time, in a sustainable way. In the development of personalized health￾care applications, the major challenge will be the discovery and validation of biomarkers, espe￾cially for multifactorial, common diseases and to define patients and patient populations that can be ‘predicted’ to either react positively to a treatment, or to be susceptible to an unwanted adverse reaction or safety issue. An important component of the delivery of personalized healthcare to patients will be the use of diagnostic tests to identify genetic or pos￾sibly other variations such as those involving environmental factors, diet, behavior or social circumstances [6]. Those diagnostic tests may be derived from biomarkers previously used in clin￾ical trials, but not all biomarkers are expected to become diagnostic tests. Diagnostic testing may be able to identify patients at a very early stage of disease or pre￾dict preventative measures, the latter not being discussed further herein. Early detection offers the potential to preserve health and avoid irrevers￾ible damage, with the early institution of monitor￾ing and treatment, and therefore, may contribute greatly to improved patient outcomes, but may also raise ethical questions such as the diagnosis of disease without potential to treat. Progressing in diagnostic, and even, preventative testing will require an examination of the current ethical, regulatory and reimbursement schemes associated with such testing and with the related therapy. „ Is personalized really personal? Personalized healthcare requires the development of products for targeted patient populations, a task primarily taken up by industry. These thera￾pies will be further personalized in the practice of medicine by the physician, who will be using test information and other knowledge about the patient at his or her disposal, possibly coming up with an individual treatment plan for each patient, and adapting dosing, treatment regimens and so on, to that individual patient’s require￾ments. The outcome of personalized healthcare is, therefore, personal. The shared responsibility between therapy developer, treating physician and patient will necessarily lead to a higher degree of co-responsibility, because treatments need to be developed with individual patient outcomes in mind, and will not be standardized for very large patient groups as may be the case today with many treatments. Personalized medicine should result in fewer adverse events [104], and thus should (at least over the long term) reduce healthcare costs [7]. The author expects that its application will increase the need of counseling, from diagnosis to treatment, because the finer details, and the implications of certain choices to be made, need to be conveyed to the patient. If done right, it may additionally result in better patient compliance/adherence to treatment because the treatment will work in almost all patients, which is a motivating fac￾tor for the treated patients. This in turn, can be expected to not only lead to a more cost-effective use of medicines but also to more consistent clini￾cal outcomes. At the same time, the implementa￾tion will require a higher degree of education of treating physicians on an ongoing basis. The above described process is already in use in treating rare diseases, where education is needed on an almost permanent basis, for treating physicians and for the patient. The author believes that this, in times of the inter￾net patient, will enable physicians to regain a closer link with their patient, as counseling future science group www.futuremedicine.com 571 Lessons learned from the field of rare diseases Perspective