바이오인

 

 

Executive Summary. . . . . . . . . . . . . . . . . . . . . . . 1

I. Introduction. . . . . . . . . . . . . . . . . 7
II. Landscape of Personalized Medicine. . . . 11
III. PCAST Deliberations . . . . . . . . . . . . . . . . . 17
IV. Focus of Report. . . 19
V. Technology and Tools. . 25
VI. Regulation. . . . . . . . . . . . . . . . . . 37
VII. Coverage and Reimbursement. . . . . . . . . . . . . . . . 45
VIII. HHS Coordination . . . . . . . . 49
Appendix A. PCAST Personalized Medicine Meetings and Presenters. . 51
Appendix B. Examples of Personalized Medicine Applications Currently on the Market . . . . 55
Appendix C. Technology and Tools Glossary. . . . . . . . . . . . 57
Appendix D. Genomic Technologies. . . . . . . . . . . . . . . . . . . . . . 59

 

 

“Personalized medicine” refers to the tailoring of medical treatment to the individual characteristics of each patient. It does not literally mean the creation of drugs or medical devices that are unique to a patient, but rather the ability to classify individuals into subpopulations that differ in their susceptibility to a particular disease or their response to a specific treatment. Preventive or therapeutic interventions can then be concentrated on those who will benefit, sparing expense and side effects for those who will not.

The principle of adjusting treatment to specific patient characteristics has, of course, always been the goal of physicians. However, recent rapid advances in genomics and molecular biology are beginning to reveal a large number of possible new, genome-related, molecular markers for the presence of disease, susceptibility to disease, or differential response to treatment. Such markers can serve as the basis of new genomics-based diagnostic tests for identifying and/or confirming disease, assessing an individual’s risk of disease, identifying patients who will benefit from particular interventions, or tailoring dosing regimens to individual variations in metabolic response.

These new diagnostics can also pave the way for development of new therapeutics specifically targeted at the physiological consequences of the genetic defect(s) associated with a patient’s disease.

The current high level of interest in personalized medicine from a policy perspective is attributable not only to the promise of improved patient care and disease prevention, but also to the potential for personalized medicine to positively impact two other important trends – the increasing cost of health care and the decreasing rate of new medical product development. The ability to distinguish in advance those patients who will benefit from a given treatment and those who are likely to suffer important adverse effects could result in meaningful cost savings for the overall health care system. Moreover, the ability to stratify patients by disease susceptibility or likely response to treatment could also reduce the size, duration, and cost of clinical trials, thus facilitating the development of new treatments, diagnostics, and prevention strategies.