PERSONALIZED MEDICINE: Planning for the Future

You, Your Biomarkers and

Your Rights

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 

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

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

Personal Genome Testing - Limitations

New area of science

Ethical concerns

Education issues

Policy issues

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

Ethical Concerns

Direct-To-Consumer genetic testing

Recreational Genomics Limited interpretation Limited/no opportunity to discuss information with genetics professional

Genetic Discrimination

Intellectual Property

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 MD’s

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

Patient Rights

Access to genetic counseling and genetic testing

Education and informed consent

Test results interpreted by a knowledgeable health care professional