1. Genomics and Personalized Healthcare Lecture 2 Bailee Ludwig Quality Management

2. Outline –The Human Genome Project –Quality & Safety –Genomic Ethics –Genetic Law –Risk Perception and Health Behavior –Scenarios

3. The Human Genome Project In the pre-module survey, a lot of you asked about the HGP…. “The Human Genome Project (HGP)[is]an international research effort to sequence and map all of the genes - together known as the genome - of members of our species, Homo sapiens. Completed in April 2003, the HGP gave us the ability to, for the first time, to read nature's complete genetic blueprint for building a human being.”

4. HGP Facts The two genomes of any two people are 99% the same The HGP has already aided in the discovery of more than 1,800 disease genes. Today’s researchers can find a gene suspected of causing an inherited disease in a matter of days, rather than the years it took before There are now more than 1,000 genetic tests for human conditions –Risk and Diagnosis

5. Predicted Benefits of the HGP Personalized medicine –Drugs that work catered to our genetic makeup, at your speed, with less side effects Personalized Disease Detection –Detecting and Preventing disease with your genome –At least 350 biotechnology-based products resulting from the Human Genome Project are currently in clinical trials.

7. How accessible can a person’s genome really be? According to the National Human Genome Research Institute… …by 2014 sequencing a human genome could be as cheap as $1,000

8. With a sequencing a genome so accessible..it will lead to some amazing possibilities… …but there is also some risk we need to examine

9. Quality & Safety in Genomics

10. Quality Issues According to the World Health Organization (WHO) … –Laboratory regulation and accreditation measures have not kept pace with the growing demand for genetic tests –The accuracy of complicated laboratory tests should be met with appropriate quality control guidelines

11. Safety Patient safety –Assuring informed consent –Protecting genetic information –Protecting patients from unjust discrimination

12. Informed Consent “Before an individual agrees to participate in a clinical trial, research project or undergo a genetic test, he or she must be informed of the test's purpose, medical implications, alternatives, and possible risks and benefits. Patients should additionally be made aware of their privacy rights, including where their DNA will be stored and who will have access to their personal information. An informed consent document, requiring the patient's signature, should articulate all of these details. Even after signing, the patient may still opt out of the test or study; the informed consent document is not a contract Genome.Gov

13. Quality Setting standards Evaluating performance Monitoring outcomes of service –Counseling must be administered to inform the patient of the range of options and possible outcomes

14. Why…? …. Safety & Quality measures need to be developed concurrently with advances in genetic testing in order to protect patients from misinformation, and avoidable harm http://www.who.int/genomics/en/

15. “I understand and agree that any specimens or tissues normally removed from my body by VUMC in the course of any diagnostic procedures, surgery, or medical treatment that would otherwise be disposed of may be retained, used for educational purposes or research, including research on the genetic material (DNA) or other information contained in those tissues or specimens”

16. Genetic Discrimination Social Discrimination –Sickle Cell Anemia Employer Discrimination –Railroad and Carpal Tunnel Syndrome Insurance Discrimination –Fragile X Syndrome as a preexisting condition”

17. http://www.youtube.com/watch ?v=8PYpmKSuwIU Genetic Discrimination Change Initiative Project

18. Privacy & Antidiscrimination Laws Title VII of the Civil Rights Act of 1964 –Genetic Diseases associated with particular ethnic or racial groups Rehab. Act of 1973 / Americans w/ Disabilities Act of 1990 –Doesn’t stop an employer from requiring employees to provide genetic info. HIPAA –Didn’t protect people who chose private coverage HIPAA Mandate of 2002

19. Genetic Info. Non-Discrimination Act Specifically deals with Genetic Info. Bans insurance companies from denying health individuals coverage or charging higher premiums Prevents employers from using genetic info.

20. http://www.youtube.com/watch ?v=z7RbIUmbGsg Louise Slaughter discusses GINA

21. Medical Ethics Nonmaleficence – doing no harm –Preventing unsolicited revelations concerning genetic info. Benefcence – doing good –Achieved through the discovery of disease- related genes and improved treatments Justice- treating everyone fairly –Avoiding genetic discrimination or stigmatization

22. Medical Ethics Autonomy – respecting the individual’s right to self determination –Preserving your own genetic information Utility – doing the most good and the least harm –Duty to warn

23. Let’s read some Duty to Warn Scenarios…. ….what would YOU do?

24. Would you want to know…?

25. Risk Perception The degree to which a person holds the belief that he or she is likely to develop a disease ( actual risk is based on medical and epidemiological data ) Those actions that are taken to prevent disease Health Behavior

27. Scenarios http://www.genome.gov/25019902

28. Discussion Questions