HealthNex: Blogposium Topic: Genetic Non-Discrimination

[In addition to our biobanking overview, below, here's our second topic contribution for the Clinical Informatics Wiki, courtesy of IBM's Julia Weatherby, on protecting genetic information. BTW, IBM was the first company in the world to establish a genetics non-discrimination policy in October, 2005]

Visit All the Blogposium Participants (More Have Joined Us in the Last 24 Hours!):

Christina's Considerations on Regional Health Information Organizations
Conmergence on Telehealth
Drugwonks on FDA Critical Path Initiative
eHealth on Integration of Personal Health Records and Electronic Medical Records
EMR and HIPAA on Electronic Medical Records and Biometric Integration
Envisioning 2.0 on The E-Patient-Provider Relationship
HealthNex (two other topics: Patient Experiential Data and Genetic Privacy Issues)
HITsmit on e-MAR Systems
HIT Transition on RHIO Startup Funding and Finance
Informaticopia on International Perspectives on Clinical Informatics
Marketplace.MD on the Consumer-Driven Health Care Movement
Medical Connectivity on Integrating Medical Devices into EMRs
medmusings on Mobile Access to EMR/EHR/PHR for Providers and Patients
Usemed on Ongoing and Completed EHR, CPOE and CDS Implementation Projects

Intro

Recent advancements in genetic research and clinical screening have enabled health care providers to test patients for a growing number of genetic diseases and predispositions to diseases. Along with the many benefits provided through genetic testing, ethical issues arise about the use and privacy of an individual’s genetic information. This information is stored in a person’s medical record. Because a medical record is not always private, the information has the potential of being used by an employer or insurer to deny insurance coverage or employment.

Background

Genomics is the study of the genome and its use of genes. It is a relatively young field, but has gained much attention through successes like the Human Genome Project, where experts have mapped the human genome. In 2003, the human genome sequence was completed, and thus began an era known as the Genomic Era. One discovery made through the Human Genome Project is that the genomic sequence for any two humans is 99.9% identical. Regardless, the many combinations of gene expressions still account for millions of differences. Francis Collins, Director of the National Human Genome Research Institute, has written, "It is estimated that all of us carry dozens of glitches in our DNA--so establishing principles of fair use of this information is important for all of us."

Through genomic research, hundreds of tests are being developed to screen for genetic diseases. With the advancement in new technologies and knowledge, social and ethical issues arise, and this is the case with ethical issues revolving around genomics. Typically, technology is developed long before ethical standards and legal policies are in place to guide those using the technologies. There are currently some policies and laws in place that address genomic issues, however they are not always consistent or complete, and they can vary from state to state.

Parties Involved

There are four main categories of parties interested in this issue. First is the patient, who wants to take advantage of advancements in genetic screening and treatment, have the treatment covered by their insurance and still be able to keep a job if it turns out they have a disease or are predisposed to one. Then there is the provider who is concerned about the physician-patient relationship and getting the best care for the patient. These two parties tend to be more supportive of keeping genetic information private. The payers (i.e., health insurance companies) are interested in protecting their profits, and therefore want to be aware if those they are covering have a genetic disease or are pre-disposed to a disease which may require significant expenditure in health care treatments. Finally, there are the employers. Employers desire their workers to be healthy and productive, and are concerned with how to reduce their burden of the high costs of health care.

Controversy

At the heart of the issue is that employers and insurers may feel free to discriminate against individuals at will, denying them necessary medical coverage and employment. There are examples of this occurring. In a comprehensive survey of 1500 companies, just one percent had a formal genetic testing policy regarding potential or current employees. Almost half of human resource personnel in this study felt it was reasonable to screen on the basis of genetics and therefore evaluate the health risk of potential employees. One of the country’s largest railroad companies, Burlington Northern Santa Fe Corp. admitted performing genetic tests on 36 employees who suffered from carpal tunnel syndrome. The employees were tested without their knowledge or consent, and were awarded $2.2 million through a mediated settlement. In another case, a man applied for a position as an insurance agent and went through 5 weeks of training. During the interview process, he disclosed that he had been diagnosed with hemochromatosis, and agreed to submitting medical information. Although he had only been told his condition might make him ineligible for medical benefits, the company denied him a position and refused to pay for time spent in training.

This discrimination may occur without being appropriately founded in correct science. Those doing the discriminating may make decisions without any scientific evidence to support their reasoning. Bruce Ponder, CRC Professor of Oncology states, “Genetics is not a deterministic matter, so there is a real concern that insurance companies have sufficient sophistication to interpret genetic information appropriately." Many diseases with a genetic basis can be a result of multiple genes, or a complex combination of genes, diet and environment. This is especially true in the case of cancer. Even in the case of a single gene genetic disease, such as Huntington’s, the onset of a disease can vary greatly. The knowledge and technology does not yet exist to make accurate predictions about the onset of many genetic diseases. For these reasons, it is easy to see how an asymptomatic person with a genetic disease may be denied health care coverage, even if they never end up getting sick.

An opposing view is that employers and insurers will not abuse genetic information, and if it happens, it will be a rare case. One insurance executive claims that nearly all the discrimination cases cited are anecdotal. Anti-discrimination laws would be ineffective because a discrimination problem does not actually exist. One reason why the abuse of genetic information wouldn’t happen is because it is not economically sound to test for such rare genetic mutations on a large scale basis. However, perhaps the only reason discrimination is not more widespread is because it is not cost-effective. As screening technologies advance and costs decline, the possibility of regular genetic screening becomes more of a real threat. The cost of genetic sequencing has halved about every 22 months making testing more cost effective. Sequencing 1000 DNA bases can cost as little as $1, and with future advancements, an entire genome may cost as low as $1000 within a decade.

A common claim by insurers is that it is not fair to insurance companies if patients have access to genetic information, but insurers cannot use it to deny coverage to high-risk patients. In the case of health care insurers, this does not appear to be too problematic. Even before genetic testing was available, health insurance companies were already covering the same proportions of genetically sick people. As a result of natural selection, genetic diseases with extremely serious consequences tend to be rare as it is.

Patients will be more likely to participate in genetic testing and have better outcomes if the privacy of the results are ensured. There are many benefits to participating in genetic testing. Genetic testing can screen to see if a patient has a particular genetic disease. If a patient does have a genetic disease, testing may also help a physician determine which treatment would be most effective for that patient. Testing can determine if a patient is predisposed to certain diseases, such as breast cancer or diabetes. This might positively affect a patient’s outcome by stressing special attention to diet and exercise. The results of genetic testing can inform a patient that they are carriers for a disease, and may affect the patient’s reproductive decisions.

If there are no protections against discrimination, people will be less likely to authorize genetic tests. People are greatly concerned with losing their genetic privacy. Fear of discrimination is preventing people from being tested, or even participating in genetic research studies. A recent study reported that about one-third of people expressed concern that genetic testing could cause them to lose their health insurance, and these apprehensions caused some not to participate in clinical research protocols. A lack of participants could have a detrimental effect on genomics research.

If patients’ fear of discrimination lead them to get tested through direct DNA tests, they may have to receive and emotionally manage the results data without the assistance of a genetic counselor. Negative test results may invoke strong feelings of guilt or depression. The ideal care for a patient learning of a genetic disease would be under the guidance of educated genetic counselors available to interpret results.

Due to privacy concerns over genetic information, some patients will go to great lengths to keep their information private. Patients have been known to use a false name or otherwise disclose fallacious information, switch providers, pay for their own testing, avoid health care, and other actions all in the name of protecting the privacy of their genetic information. In a survey of genetic counselors, the majority said they would personally employ one of these methods to maintain privacy. This type of deception might ultimately degrade the quality of care available to a patient. Providers may not be able to provide the best care if there is missing or incorrect data in a patient’s record.

Proposed Legislation

A proposed way to prevent discrimination of genetic information in the workplace and in health insurance is to enact federal laws banning such practices and enforce stiff penalties to violators. There is much support for this idea, as anti-discrimination legislative bills have been introduced to Congress in every session since 1996. None of the bills have been enacted into law, and yet again, there is currently a bill pending. The Genetic Information Nondiscrimination Act of 2005 has bipartisan support and was unanimously approved by the Senate on February 17, 2005. The bill was introduced to the House of Representatives as bill HR 1227. The bill has been referred to three House committees. However, it is very possible that the House may not act on the bill at all, just like a similar circumstance in 2003.

The Genetic Information Nondiscrimination Act of 2005 specifically disallows health insurers from requesting or requiring genetic screening, and the practice of adjusting premiums based on genetic information. In a similar manner, the proposed legislation prohibits employers from requesting, requiring or purchasing genetic information. In addition, it limits the employer’s right to disclose genetic information.

Legislation such as this gathers much support from patients and providers. This bill has bipartisan support in Congress, and has the support of the U.S. President. Surprisingly, even insurers are not objecting all that much to this legislation. The majority of disapproval originates from organizations representing employers, like the U.S. Chamber of Commerce. Their complaints mainly center around details of the bill.

The national trade association representing over 1,000 health insurance companies, America’s Health Insurance Plans (AHIP) has an opposing view that additional federal health insurance legislation is unnecessary because state legislation already exists. Thirty-three states have enacted privacy and anti-discrimination legislation in the area of genetic information. Much state legislation does exist, however it is not consistent from state to state.

AHIP suggests additional laws may directly hurt the health care offerings for patients if the laws are worded or interpreted to prevent insurance plans from offering genetic counseling or other related services. Although the association discourages more anti-discriminatory legislation, it has not been so aggressive as to fight the federal legislation through lobbying. A coalition of employers, national trade associations and professional organizations formed to create the Genetic Information Nondiscrimination in Employment Coalition. The GINE Coalition makes similar claims to AHIP against proposed legislation, and extends them to suggest that the additional legislation will create uncertainties, unintended consequences and frivolous litigation. The GINE Coalition requests limitations and a more narrow scope for a majority of the proposed bill.

Employer Non-Discrimination Policies

A secondary solution to the issue is for employers to create anti-discrimination policies on genetic information. Companies of all sizes could extend their formal anti-discrimination policies to include discrimination based on genetic information. IBM created a policy of not discriminating based on genetics. In February 2000, President Clinton banned genetic discrimination in federal employment. He asked Congress to pass a non discrimination law to cover private employment as well.

References were removed for space.

Blogposium IBM HealthNex