You May Want to Ask Your Geneticist b efore you take that drug. Why?

1. By Invitation Only: Preserving Privacy and Consent in Pharmacogenomics KristianBorofka, Amanda Dewey & Julie Herman • You May Want to Ask Your Geneticist • before you take that drug. Why? • Genetics Affect Your Drug Response • Medications work as intended between 50 and 60% of the time • That number is closer to 20% for cancer therapies • Over 700,000 people in the U.S. suffer or die as a result of an adverse drug reaction every year. • A New Policy for a New World • Reform GINA • Privacy or usage of nonmedical genetic information • Third-party transfer of genetic information without consent • Expand GINA to include: • Non-discrimination for life insurance and long-term care insurance • Ban unauthorized third-party transfer of genetic information like HIPAA does for medical information • Ongoing informed consent as outlined below • Ongoing Consent • Ongoing need for updated medical informationrequire ongoing informed consent • Implement fines for enforcement • Participants have the right to opt out at any point, but it is their responsibility to do so • Reciprocal system of contact and consent: • Yearly contact with the database participants informing them of the categories of studies being done • Allow the researchers to update participant medical information, incentivizing researchers to keep track of the participants • Strikes a prudent balance between research needs and ethical concerns Good responders No toxicity of drug metabolites Good responders Toxicity of drug metabolites Variability in Drug response “A Betrayal of Trust” The Havasupai people of Arizona were desperate. Nearly 50% of tribe members were affected by Type II diabetes, and tribal leaders wanted to understand if the disease had a genetic basis so that predisposed individuals could take preventative measures. They asked two professors at Arizona State University to help them, consenting specifically to experiments about diabetes. Unfortunately, one of the professors had other ideas. She conducted experiments on schizophrenia and shared the data with post-docs and even professors at other schools. The Havasupai then brought a lawsuit against the university, claiming that tribe members “[feared] going to the health clinic, seeking medical attention, or providing blood samples for medical diagnosis or treatment.” • Currently: • Bans discrimination by health insurance companies and employers on the basis of genetic predisposition to disease • Bans insurers and employers from requiring individuals to undergo genetic testing • It does not cover • Discrimination bylong-term care and life insurance providers Cytochrome P450: Liver enzyme Same Medication, Same Dose, Different SNPs Bad responders Toxicity of drug metabolites Bad responders No toxicity of drug metabolites • Steps to Rejecting “One-Size-Fits-All“ •  Need a new type of informed consent because current types do not cover using old samples for new research, and there is no coherent process for ongoing access to medical records • Look for Single Nucleotide Polymorphisms (SNPs) in DNA using microarrays or whole-genome sequencing • Record data for hundreds of thousands of people • Use statistics to correlate disease states with SNPs Thesis: Expanding GINA to define and require a more robust system of informed consent procedures for patients in pharmacogenomics studies and expand discrimination protection to all insurance will preserve human dignity and autonomy during the advancement of personalized medicine because it protects against potential discrimination and dehumanization on the basis of medical and genetic information. • Convince hundreds of thousands of people to allow ongoing access to their DNA and medical records so both early- and late-onset disease can be documented • Kantian Arguments for Policy • Autonomy: Rational beings have a right to self-determination. • If an individual cannot control choices about who uses their genetic information and how, their autonomy is removed • If an individual does not have enough information to make an informed decision, their autonomy is constrained • Proper informed consent, which is a way to ensure patients make free, uncoerced, informed choices, is necessary for autonomy • Privacy: An individual’s right to privacy is the right to freedom from unauthorized intrusion into medical and genetic information by others. • Third Party Transfer violates privacy because individuals have a right to noninterference • Dignity: Innate human worth. • Personal and cultural beliefs are important extensions of persons, and violating them through unauthorized use of DNA is dehumanizing • Preventing discriminationwith regard to insurance is important to dignity • Discrimination intrinsically frames some humans as worth less than others • Access to insurance is critical to maintaining a dignified life Whole-Genome Sequencing Methods Proposed Reciprocal System of Informed Consent Participants *Updated Medical Records *Ability to Opt Out Information About Types of Studies Researchers