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PERSONALIZED MEDICINE: Planning for the Future You, Your Biomarkers and Your Rights.

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Presentation on theme: "PERSONALIZED MEDICINE: Planning for the Future You, Your Biomarkers and Your Rights."— Presentation transcript:

1 PERSONALIZED MEDICINE: Planning for the Future You, Your Biomarkers and Your Rights

2 Genetic Counseling Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. National Society of Genetic Counselors, 2005

3 Genetic Testing Diagnostic tests - Rare conditions - Relevant for a small percentage (1%) of the population - Predictable by family history - Predictable outcome – result presented as positive or negative - Outcome not influenced by environment Probabilistic tests - Common conditions - Relevant to anyone concerned re: risk for disease - Not necessarily predictable by family history - Outcome not predictable – presented as statistical probability - Outcome can by influenced by environment

4 Personal Genome Testing - Benefits Scientific advances in genomics are predicted to revolutionize the practice of medicine Genetic susceptibility – knowledge is power Improving health outcomes through prevention and early screening Enable health care providers to better understand the health needs of people based on their individual genetic make-up Potential to reduce the burden of chronic disease in the population Design new treatments for disease Customize medical treatment based on genetic markers that affect drug metabolism

5 Personal Genome Testing - Limitations New area of science Ethical concerns Education issues Policy issues

6 The Science is New Limited data Limited interpretation Evolving area of medicine Inability to combine risk from genetic markers with family history and other serum markers Need for wide-scale population studies to assess contribution of genetic markers to disease Need for studies to assess how genetic information can be used to effect behavior change

7 Ethical Concerns Direct-To-Consumer genetic testing Recreational Genomics Limited interpretation Limited/no opportunity to discuss information with genetics professional Genetic Discrimination Intellectual Property

8 Education Issues Complex information that should be delivered/explained by a knowledgeable medical professional Limited number of genetics professionals to help individuals interpret and understand genetic test results ~2200 certified genetic counselors in the U.S. Limited genetics training for MDs

9 Policy Issues Individuals must be able to access genetic counseling services to ensure they are fully informed about appropriate genetic tests Genetic counselors inability to be directly reimbursed by Medicare has created access problems for patients in need of such services Costs to Medicare would be reduced by personalized, preventive medicine approaches National Society of Genetic Counselors

10 Patient Rights Access to genetic counseling and genetic testing Education and informed consent Test results interpreted by a knowledgeable health care professional

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