In the not-so-distant future, genetic testing will be a routine part of medical care. Doctors will screen for genes that influence your risk of heart disease, Alzheimer's, or diabetes. They will perform genetic tests to see how--or whether--you will respond to a particular medicine. (In fact, in some cases they already do.) It's not hard to imagine a future in which whole genome sequencing--that is, having your entire genome read out, not just a particularly juicy bit--will be routine at birth.
You may have begun to ask yourself: How much do I really want to know about my genetic destiny? But the focus on personal decision-making has obscured the legal and ethical questions that we must grapple with as policymakers and as a society. As researchers working at the intersection of law and cutting-edge medicine, these are the questions we struggle with every day. Here are our top ten legal and policy challenges that we must address as a society if we are to truly reap the benefits of genetic testing:
- Privacy/Discrimination: Many patients are concerned about the confidentiality of their genetic test results and the potential for discriminatory use. The Genetic Information Nondiscrimination Act (GINA) prohibits employers and health insurers from using genetic information to discriminate, but does not extend to life and disability insurance or to other important molecular test results that do not fall under GINA's definition of "genetic information." Surreptitious DNA testing, in which anyone can secretly collect and test your DNA from a drinking cup, straw or licked envelope, also raises privacy concerns, as many states currently have no protections against police or private parties testing others' DNA.
- Liability: New medical technologies result in increased errors and omissions, unrealistic or unfilled expectations, and disparities in adoption and implementation--all of which are already leading to lawsuits. As genetic testing becomes the "new normal," doctors face the most liability, but drug manufacturers, genetic test developers, testing laboratories, insurers, and even pharmacists will also be vulnerable. It remains to be seen whether these liability pressures will create incentives for diligent care, or will encourage less favorable responses such as defensive medicine, whereby doctors conduct excessive tests and procedures to protect themselves against potential lawsuits rather than because they are medically warranted.
- Data Ownership and Management: Data is the lifeblood of genetically personalized medicine. To detect correlations and patterns that can be used to individualize care, researchers will need access to the personal genetic, lifestyle, and health data of tens if not hundreds of thousands of patients. How will these data be stored, owned, and controlled? Will patients allow researchers access to their information for research purposes? How will the data be protected against accidental release or hacking?
- Patents: Patents are intended to promote innovation, but have stirred controversy in the genomics field when applied to naturally occurring genes, molecules, or biologic patterns. Over 20 percent of human genes are already patented, but courts are currently divided on whether those patents can actually be enforced. (Editor's note: On Monday, the Supreme Court ordered an appeals court to reconsider its ruling that two genes associated with breast cancer and ovarian cancer could be patented.)
- Physician Participation: Doctors will be the key gatekeepers to most new genetic technologies. If doctors do not use these new tools, patients will not benefit from them. There are nowhere near enough genetic specialists to handle the genomic revolution, leaving the onus on other providers to learn genetics as it relates to their fields. Yet most doctors have little or no formal training in genetics, and many are reluctant to adopt new genetic technologies.
- New Regulatory and Reimbursement Models: Traditional regulatory and reimbursement models do not take into account the complexity and novelty of new personalized medicine approaches, resulting in delays in bringing the products to market and difficulties in receiving appropriate payment from insurance companies. We will need creative new approaches to ensure that these novel products are safe and useful while not imposing undue costs, delays, and uncertainties.
- Patient Education: The availability of genetic profiling will force us to consider how much information we want to know about ourselves and how that information will affect decisions about lifestyles, reproductive choices, financial planning, and medical interventions. Patients will need to understand the meaning and implications of these new types of data to make informed choices. Where will this education come from?
- Direct to Consumer (DTC) Genetic Tests: Some companies have started selling genetic testing services directly to consumers. Critics argue that these tests should be available only through a doctor, in part because some DTC tests provide misleading results. Proponents of DTC testing argue that consumers should be able to access their own genetic information without having to incur the costs or confidentiality risks of obtaining their results from a doctor.
- Disclosure of Genetic Results: Whole genome sequencing will reveal hundreds of variants in each person, many of which will have uncertain clinical significance. Should all genetic test results be returned to patients, or only those "actionable" findings for which practical steps can be taken to reduce risk? Will there be sufficient expert personnel to explain the meaning of genetic test results to patients? Is meaningful informed consent possible? When, if ever, should genetic information be disclosed to minors? Should genetic test results also be communicated to patients' relatives who may share the same traits? If so, who has the duty--the patient or the doctor?
- Behavioral Genetics: Genetic research is not only identifying traits that affect disease risk but also is discovering genetic variants that influence our personalities and intellectual, athletic, and artistic capabilities. How will the expansion of this sensitive new information affect education programs, workplaces, and the criminal justice system, among others? Already such behavioral variants are being presented as mitigating factors in criminal trials, demonstrating that behavioral genetics is no longer science fiction.
For more on the personal and policy decisions raised by genetic testing, watch NOVA's Cracking Your Genetic Code, premiering Wednesday, March 28 at 9 p.m. on most PBS stations. Please check your local listings to confirm when it will air near you.