As research of genetic testing grows, so do the pros and cons
Human Genome Project and beyond
While the possibility of using genetic information for evil, rather than good, sounds like something out of a science fiction movie, the likelihood of that happening is ever-present.
Mark A. Rothstein, JD, director at the Institute for Bioethics, Health Policy and Law, University of Louisville School of Medicine, Louisville, KY, says that although there are no specific studies to prove otherwise, it is likely that disclosures of genetic information in violation of the express provisions of Genetic Information Nondiscrimination Act [GINA] are common.
"For example, under GINA an employer is prohibited from acquiring the genetic information of an applicant or employee," he says.
Under the Americans with Disabilities Act [ADA], however, after a conditional offer of employment, the employer is lawfully permitted to require the individual to sign an authorization to disclose all of his or her medical information. Post-GINA, this disclosure applies to all medical information except genetic information. The problem is that for paper and electronic health records, it is extremely burdensome to separate genetic from non-genetic information, so the custodians of the records often send everything, says Rothstein.
The ethical and legal ramifications associated with genetic testing are now an integral part of genetic testing. (For more information about Ethical, Legal, Social Issues, see article, below). The matter of privacy and fair use of genetic information come into play. However, privacy is not the issue, says Nancy M.P. King, JD, professor, Department of Social Sciences and Health Policy Wake Forest University School of Medicine, co-director, Center for Bioethics, Health, and Society, Wake Forest University, both in Winston-Salem, NC. The issue is confidentiality, King says. "Since the only practical way that genetic information can be derived in the first place is by one person providing a biospecimen to another person so that the first person's genetic information can be obtained through analysis, the question should be whether genetic information can be kept confidential," King says.
Important questions can be asked of genetic testing and information. Can the information obtained remain confidential? Or could it be bought, sold, or leaked to employers, schools, insurance providers, direct marketers, banks, credit bureaus, law enforcement agencies, or quite frankly, to anyone who wanted that information. "There are federal laws protecting the confidentiality of medical information generally, HIPAA, and genetic information specifically, GINA," says King.
According to Rothstein, GINA only applies to individual and group health insurance. It does not prohibit genetic discrimination in life, disability, long-term care, or other types of insurance. Also, GINA only applies to people who are asymptomatic. "For example, under GINA, it would be unlawful for an individual health insurance company to deny coverage because a woman tested positive for one of the breast cancer mutations," Rothstein says. "But if a woman later developed breast cancer, then GINA would not protect her, and subject to state insurance law, the insurer could decline to renew the policy, charge substantially higher rates, etc."
What is 'genetic exceptionalism'?
A concern among geneticists is the concept of "genetic exceptionalism," the question of whether genetic information should be treated any differently than other medical information, says Cecelia Bellcross, PhD, MS, CGC, instructor/certified genetic counselor at Emory University School of Medicine in Atlanta.
Bellcross says, "When you have your cholesterol checked, nobody tells you that if it is high you could have problems with health/life/disability insurance. Is genetic information really different?"
During the Human Genome Project (HGP), concerns rose about what ramifications could ensue stemming from the availability of such large amounts of personal genetic information, in mostly unguarded and vulnerable data banks, as well as the potential discriminatory misuse of genetic information. The HGP was a study of genes and DNA that started in 1990. The goals of the project were to identify all the approximately 20,000-25,000 genes in human DNA, determine the sequences of the 3 billion chemical base pairs that make up human DNA, store this information in databases, improve tools for data analysis, transfer related technologies to the private sector, and address the ELSIs that were sure to arise from the project. (For more information on HGP, see article, below) Rothstein says, "According to Congress, the main purpose of GINA is to allay the fears of individuals who want to avail themselves of genetic testing or other genetic services that they can do so without worrying about discrimination, [but] it is not clear whether this goal can be realized under GINA."
Bellcross says, "Even before HIPPA and GINA, there was very little evidence that genetic discrimination was taking place, but the fear of it kept many people from accessing genetic services. The best thing about these laws is they help to remove some fear."
- Cecelia A. Bellcross, PhD, MS, CGC, Instructor/Certified Genetic Counselor, Emory University School of Medicine, Department of Human Genetics/Division of Medical Genetics, Atlanta. Email: firstname.lastname@example.org.
- Nancy M.P. King, JD, Professor, Department of Social Sciences and Health Policy Wake Forest University School of Medicine, Co-Director, Center for Bioethics, Health, and Society, Wake Forest University, both in Winston-Salem, NC. E-mail: email@example.com.
- Mark A. Rothstein, JD, Herbert F. Boehl Chair of Law & Medicine, Director, Institute for Bioethics, Health Policy and Law, University of Louisville School of Medicine, Louisville, KY. E-mail: firstname.lastname@example.org.
- Human Genome Project Information. Web: http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml.
- National Human Genome Research Institute. Web: http://www.genome.gov.
ELSI of HGP and other genetic testing
Ethical, legal, and social issues (ELSIs) recently have been raised concerning genetic testing following an incident last year at University of California, Berkeley.
"UC Berkeley sparked a controversy by proposing to do genetic testing on all incoming freshmen," says Nancy M.P. King, JD, professor in the Department of Social Sciences and Health Policy Wake Forest University School of Medicine, and co-director, Center for Bioethics, Health, and Society, Wake Forest University, both in Winston-Salem, NC.
The proposed testing was for several non-medically significant traits and would be used in a structured learning opportunity. The university first introduced plans to launch the voluntary program for incoming freshman that would test for three genes involved in the metabolization of alcohol and lactose. The project would be part of UC Berkeley's "On the Same Page Program," which attempts to engage new students in an intellectual exercise focused on a particular topic. UC Berkeley chose personalized medicine and had hoped to give students a small piece of their own genomic profile.
However, after conversations with the California Department of Public Health and other state health regulators, UC Berkeley was served with a directive asking it to halt the dissemination of genomic data to individual students because the genetic analysis would be delivered without the involvement of the students' doctors. As a result, the university will not release individual test results to students but instead will provide the results in aggregate form with the goal of engaging students in discussions about the ethical, legal, and social implications of personal genomics.
Human Genome Project ethics
When it comes to genetic testing, what might be considered new controversy to some is not new at all to those in the healthcare ethics field.
Because of the vast number of concerns and ethical issues that cropped up during the Human Genome Project (HGP), both coordinators of the study the U.S. Department of Energy (DOE) and the National Institutes of Health (NIH) committed about 3-5% of the yearly HGP budget to study the ELSIs associated with the availability of this new genetic information. HGP was a collaborative research program with a goal of complete mapping and understanding of all the genes of human beings.1
Part of that ELSI budget was earmarked for study into the potential effects of having such information readily available, and another part was set aside for educational materials about the ELSI for physicians, educators, students, clergy, and judges and other legal professionals. (See resource listing, below, for more information.)
The overall mission of the HGP ELSI program was to identify and address issues raised by genomic research that would affect individuals, families, and society as a whole. Analyses of the data continue, as do ELSIs associated with the study.
Controversy brews from DTC testing
There are more than 1,000 genetic tests for human diseases and conditions on the market ranging from DNA-based identity testing to predisposition testing, even whole genome scanning. There is an increasing trend for genetic test companies to market and sell their genetic test products directly to consumers.
These direct-to-consumer (DTC) tests provide information that consumers weren't customarily privy to, without involving a physician in the process. As its name implies, the DTC genetic test is accessible directly to the consumer without the need of a healthcare professional to order the test or read the results.1
As expected, ethical issues have been raised because of these tests. Recently, the General Accounting Office (GAO) published the results of its investigation into DTC genetic testing companies and disclosed a great deal of variation in the results and their interpretation. (To access the report, see Resource, below.) Regarding these DTC genetic testing companies, "the ethical, legal, and social issues [ELSI] implications include understanding the difference between screening and confirmatory testing; the differences between screening for traits, carrier status, susceptibility to common complex disorders, and single gene disorders; the difference between relative and absolute risk; genetic determinism and genetic essentialism; medicalization, commodification, and informed consent,"explains Nancy M.P. King, JD, professor, Department of Social Sciences and Health Policy Wake Forest University School of Medicine, and co-director, Center for Bioethics, Health, and Society, Wake Forest University, both in Winston-Salem, NC.
With all the ELSI involved with DTC tests, is more information always better? "Only if it's good information," King says. "DTC genetic testing does not yet produce good information."
Benefits of DTC testing are the accessibility of tests to consumers, promotion of proactive healthcare, and the privacy of genetic information. Cecelia A. Bellcross, PhD, MS, CGC, instructor/certified genetic counselor, Emory University School of Medicine, Department of Human Genetics/Division of Medical Genetics says, "If accompanied by appropriate genetic counseling and done in conjunction with consultation with one's local healthcare provider, [certain] DTC genetic testing can be helpful in some circumstances."
Risks of DTC testing include the lack of governmental regulation and the potential misinterpretation of genetic information.
Recently, there has been much debate about the legality of DTC genetic testing. DTC genetic testing has become more controversial as the number of available single gene tests has increased and particularly with the introduction of personal genome testing services, which provide risk assessment information for many diseases, traits, and conditions by genotyping thousands of gene loci in each individual. "[Some of] the tests offer no established clinical validity or utility," Bellcross says. "They test for a few variants that have been associated with particular diseases or traits; however, the ability of these tests to actually predict who will or will not get the disease in question is often no better than flipping a coin." The variety of genetic information tested for complicates the issue of whether these companies are providing information for recreational purposes only or whether they are also providing medical diagnostic information.
"In general [the tests] strike me as insufficiently informative to reasonably ground decision-making based on them," King says. "They seem to promote genetic essentialism, when there are many other factors of considerable significance to consider including family history, behavioral and lifestyle choices, and gene-environment interactions."
Bellcross agrees, "The SNPs [Single Nucleotide Polymorphisms] that have been found in association with most diseases only account for a fraction of the known heritability. So someone who is obese, and has three family members with diabetes could be falsely reassured about their risk based on a diabetes genomic profile, which doesn't account for these factors."
DTC genetic testing is considered highly controversial and in some cases unethical, due to great opposition from the scientific community. Opponents of DTC testing argue against the risks involved, especially the fact that the tests are unregulated by government, as well as the possibility of severe misreading of test results by a layperson, and not a licensed healthcare professional. Additionally, some advertising for DTC has been criticized as being exaggerated and inaccurate in the messaging regarding the connection between genetic information and disease risk.
"At least at present," King says, "there are many discrepancies and gaps in the information that DTC testing companies consider."
U.S. Government Accountability Office. Direct-To-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices