Do you know how your genetic information could be used? You may be surprised!

Despite the seeming lax attitudes of some towards protecting our genetic data and the information obtained from genetic screening, that’s not what the public wants. Two new reports this week on the use of genetic information from human genome research describe ethical and social concerns that you may never have considered.

A March 2007 survey by Johns Hopkins Genetics and Public Policy Center found that 86% of Americans trust their doctor with their genetic information, but they do not trust health insurers or employers not to misuse the information (whether by disclosing it or discriminating against them). Some genetic researchers fear that these concerns could potentially harm patients who might benefit from genetic testing or might restrict participation in research and hinder advances in medical and scientific knowledge.

The American College of Physicians released a policy paper yesterday on genetic discrimination, with some insightful information for healthcare professionals and consumers. The American College of Physicians described some of the misconceptions surroundings beliefs that HIPAA (Health Insurance Portability and Accountability Act of 1996) protects the privacy of genetic information.:

It is often thought that HIPAA regulations provide sufficient federal protection against genetic discrimination; however, that is not the case. HIPAA regulations do not prohibit use of genetic information as a basis for charging a covered group larger premiums for health insurance if one member of that group tests positive for a genetic disorder; limit the collection of genetic information by insurers; prohibit insurers from requiring an individual to undergo a genetic test; limit the disclosure of genetic information by insurers; or prohibit the use of genetic information for underwriting in the individual market.

A May 2005 report commissioned by the Department of Health and Human Services’ Secretary’s Advisory Committee on Genetics, Health and Society found that current federal statutes and constitutional protections — including HIPAA, the Americans with Disabilities Act, Title VI of the Civil Rights Act, and the Right to Privacy and Fourth Amendment protections — that address genetic information in employment and health insurance are “incomplete in both the scope and depth of [their] protections.” Current federal protections against discrimination in health insurance do not cover individual insurance policies. Additionally, an insurer of a group may request, require, or otherwise obtain an individual’s genetic information as a condition of coverage and may charge all members of the group higher premiums based on the genetic information obtained.

A review of state genetic nondiscrimination laws found great inconsistencyes in the protections from state to state. As of May 2007, 35 states had enacted laws prohibiting genetic discrimination in employment and 47 had laws prohibiting it in health insurance. But:

Currently there is no body of case law that protects an individual from genetic discrimination at the federal or state levels. Further, although insurance companies have portability protections across states, these protections do not transfer for the insured. As such, if an individual moves from one state that provides protection against genetic discrimination in health insurance to another state without such protections, he/she is no longer protected, even if the individual remains with the same insurance company. In the states that protect against genetic discrimination, self-insured companies are generally exempt from those protections under the Employee Retirement Income Security Act of 1074 (ERISA); however, they are subject to federal regulations.

The Genetic Information Nondiscrimination Act (S.358/H.R.493) (GINA) would prohibit health insurers from using genetic information to set eligibility, premium, and/or contribution standards; prohibit insurers from requesting or requiring a genetic test; prohibit employers from using genetic information in making employment decisions, such as hiring, firing, and promoting; and prohibit employers from requesting, requiring, or purchasing about an employee or an employee’s family member. On April 25, 2007, the House of Representatives finally passed GINA by a vote of 420-3. As of March 5, 2008, it had yet to be voted on in the Senate. President Bush has indicated his willingness to sign GINA if Congress finally passes it.

The ACP issued its positions on the role of doctors in genetic testing and counseling, and on what it believes are needed in federal protections. (See the ACP legislative Positions below**.) The ACP wants GINA to become law and so does the Personalized Medicine Coalition (made up of research Universities and hospitals, lab testing companies, patient advocacy groups and government partners). So, why hasn’t it passed?

According to GenomeWeb, the insurance industry lobbying group, American Health Insurance Plans, doesn’t want this law:

Speaking on AHIP’s behalf to a US House committee a year ago, William Corwin, the medical director of clinical policy at Harvard Pilgrim Health Care, said the law could get in the way of “appropriate health care decision-making.” Corwin said the bill “could limit consumer access to life-saving treatments” because it would keep insurance companies from “requesting or requiring” an individual or a family member to undergo a genetic test, and that AHIP would prefer insurance companies to retain this right.

He added that there may be many “unforeseen advances” that could create circumstances where insurance companies would “need to request genetic tests to determine whether customized therapies or treatments are warranted.” Corwin also said GINA would stop health insurers from using genetic testing to identify “patients who may benefit from specific types of screening or disease management services.”

Insurer-mandated testing and “disease management” identified by genetic markers, or denial of care based on the results of genetic tests — these are not likely the “benefits” of genetic profiling welcomed by consumers.

Ethics of genome research

Released today by the Public Library of Science, was a consensus statement (available free online) of recommendations of ethics for whole-genome research, led by Timothy Caulfield at the Health Law Institute, University of Alberta, Edmonton, Alberta, Canada.

“As technology continues to advance, whole-genome research activities seem likely to intensify and expand, necessitating carefully considered consensus guidelines for ethical research practice,” they wrote. So, they convened an interdisciplinary consensus workshop to develop “ethically rigorous and practical guidance for investigators and research ethics boards.” In addition to discussing the obligations to obtain consent and report results, the right of people to withdraw, and a risk/benefi analysis, this paper also explained why such guidelines are necessary, when it described the potential abuses and misuses of your genetic material.

What are the possible risks? If you’ve never thought about it, their scenarios are unsettling. As they explain, sequencing of entire genomes will enable unprecedented amounts of detailed genetic information to be produced by researchers.:

As a result, all known genetic predispositions will be available and, depending on the data sharing policy, accessible to a wide range of researchers and, possibly, the public at large—this, at a time when we are still seeking to understand the social, clinical, and personal implications of genetic information. These uncertainties can create unique ethical challenges…

Imagine you are watching the news and learn about a study linking race to IQ, which you find offensive. You later learn that they used your DNA for this study. You donated your DNA five years ago for use in a genetic association study of cancer and heart disease. At the time, you were told that other researchers might want to use your DNA for other types of research. You want to withdraw your consent, but it is too late. Your genetic information has been analyzed by many researchers and is now integrated in databanks throughout the world.

Imagine that you are sitting home, minding your own business, and the police show up at your door with a search warrant. They are looking for the suspect from a crime scene… some DNA that was left at the crime scene matched a sample from a publicly accessible scientific database that contained DNA from one of your brothers….

Years later, you develop a heritable form of cancer and learn that the research team must have known you were genetically predisposed to the disease. To complicate matters further, you have a large number of siblings, none of whom want to know about their genetic predispositions. This information is now available to all.

Imagine you... are trying to find private health insurance… As part of the enrollment process, the company accesses a [publicly accessible database and] finds out that you are at increased risk of early-onset Alzheimer disease and are highly susceptible to cancer from the chemicals encountered in your recycling process. They also find that you are at greatly increased risk of colon cancer, which alerts you to now take early screening and preventive measures…

The implications and potential social risks associated with sequencing the human genome are unknown, they write. “While most of the data will have limited immediate clinical significance, the massive volume of the data triggers challenges to protecting privacy and respecting autonomy.”

The involvement of commercial interests and potential commercialization of the results bring troubling ethical aspects that suggest greater potential abuses than clinical benefits.

** ACP legislative Positions

Position 1: Insurance providers should be prohibited from using an individual’s genetic information to deny or limit health coverage or establish eligibility, enrollment, or premium contribution requirements.

Position 2: Insurance providers should be prohibited from establishing differential premiums based on an individual’s genetic information or request for genetic screening.

Position 3: Employers should be prohibited from using an individual’s genetic information in employment decisions, such as hiring, promoting, or terminating an employee or establishing the terms, conditions, and benefits of employment.

Position 4: Insurers and employers should be prohibited from requiring individuals and families to undergo genetic testing.

Position 5: Insurers and employers should be prohibited from collecting and/or disclosing an individual’s or a family’s genetic information. Written and informed consent should be required for each disclosure of genetic information and should include to whom the disclosure is made.

Position 6: Congress should establish comprehensive and uniform federal protection against genetic discrimination that closes the gaps in protection due to varying state laws. Federal protection should also cover ERISA health plans.