Mapping Morality: The Rights and Wrongs of Genomics Help

By Dr. Arthur Caplan (Guest Author)

Let me begin with three cases that involve genetic testing. I'll present each of the cases, discuss some ways in which genetic testing provides us with new ethical dilemmas, consider how they apply to each of the case studies, and conclude with some larger ethical questions that we, as individuals and as a society, must examine and resolve to fully reap the benefits of genomics research. Case 1: A Young Man Worried About Coming Down with Huntington's Disease Not so long ago, a gentleman came to the Neurology Institute at the University of Pennsylvania to be tested for Huntington's disease, an inherited degenerative neurological disease that typically manifests in midlife and leads to dementia. The gene mutation that results in Huntington's disease displays a characteristic genetic marker, and those who inherit the gene are certain to develop the disease. His father had begun to show symptoms in his 40s, suffered terribly for a few years, and died. So this gentleman came to the clinic to learn if he was going to face the same fate.

Soon afterwards I received a call from the Neurology Institute. The caller said, "We have very good news: the man whose father had Huntington's is not at risk!" I rarely get calls like this. No one ever calls to tell an ethicist good news! The caller then said, "We need your advice about something, though. The man who had Huntington's could not possibly have been his biological father." The young man was in the clear, but for a completely unexpected reason. Case 2: A Father Concerned About His Daughter's Risk of Breast Cancer Another gentleman came to a hospital with his 10-year-old daughter. He had seen his mother, his cousins, and other relatives ravaged by breast cancer. He knew other women at work who had battled the disease and lost. If his daughter was at risk, he wanted to know. According to the counselor who talked with him, the man was deeply worried that he might have harmed his daughter by passing on the gene for breast cancer. To expiate his guilt, he wanted to do everything he could to reduce his child's risk of facing the horror of this disease.

Since there was little to be done, the counselor asked why he was addressing the possibility at such an early age. He said he'd heard that it was possible to remove her breast buds. The daughter didn't know why she'd been brought to the hospital. Case 3: Testing for Woody Allen A few years ago I received an e-mail ad about a research project in Maryland that sought to recruit participants from Baltimore's Jewish population. The investigator was looking for genetic markers that might predispose individuals to depression.

At first I thought that made sense. Aren't Jews more inclined to anxiety and depression? Still, rather than rely entirely on my familiarity with Woody Allen movies, I consulted a colleague in the University of Pennsylvania psychiatry department. He said that he knew of no evidence of a higher incidence of depression among Jews. Neither did anyone else I asked.

Eventually, I called the researcher and asked why he was targeting one ethnic group. Does it have a greater incidence of depression? His response was, "Oh, it's very simple: Jews are very compliant; they don't miss any appointments." His decision to study depression only in the Jewish population inadvertently implied that Jews have a higher rate of depression. In fact they do not. Genomic Information is Different As these cases show, genomic information is different from other types of health information because: It reveals things about other people beyond the person tested. For example, genetic testing can reveal consanguinity: the phenomenon of inheriting the same gene variations from two closely related people. Consanguinity can result from consensual sex among close relatives, rape, child abuse, or of the use of an anonymous sperm donation that is from a close relative. Consanguinity produces much greater risks of disability. It may lead to the stereotyping or stigmatizing of an individual or the group to which he or she belongs. It can reveal information that people may or may not want to know.

Each of the three cases involves one of these ethical problems. What Are the Ethical Implications of Defining Ourselves by Our Genomes? People define themselves according to their phenome (their appearance), but many also define themselves according to their genome (e.g., their race, biological ancestry, "blood," "kinship"). What are the potential implications of doing so?

Consider a case that involves Native Americans. Tribal membership can determine control over the profits from casinos. This has prompted a proposal for tribe members to be genetically tested. The question then becomes whether an elder who has grown up on a Native American reservation and is on the tribal council but who lacks specific genes can, or should, be excluded from the tribe. Conversely, could someone who has the right genes but has never visited the reservation "become" a Native American and lay claim to a share of tribal profits?

Genetic information is used to classify, group, lump, split, separate, identify, and confer benefits. For example, many nations offer the right of return to those who can show a particular ancestry. Other groups restrict adoption to biological relations. Terms like "blood" or "kinship," loose terms for genes, confer all manner of rights, obligations, and privileges upon individuals. Improved genetics knowledge has the potential to undermine or strengthen these crude categorizations, with ethical implications that vary widely from case to case.

Genetics not only tells you about yourself, it tells you about your relationships with others. Other people can use genetic information to define who you are, even if you don't want the information or don't agree with their decisions. The more you learn about yourself, the more you may define yourself in comparison to others. This focus on genes might foster stereotypes, as in the case of the depressed Jews of Baltimore, or stigmas that affect all members of a group, whether or not they possess certain genes. Genomics and Ethics: Moving Forward Despite a lot of advertising on the Internet for "spitomics"spit in a cup and send a sample off to a company that promises to tell you about your health, diet, dating compatibility, or athletic skillsgenetic testing is not that common. There are three reasons why I think that this has not happened, and

these reasons point to ethical principles that need to be established.

Genetic testing should require explicit consent. If you throw out a Kleenex, should it be fair game for anyone looking for your DNA? Do parents have the right to test their children involuntarily? At present, protocols are often absent or incomplete.

In Case 1, we sent the man who was tested for Huntington's disease home with the knowledge that he was not at risk. He was not informed that the man who raised him was not his biological father. The father had never consented to testing and was now dead. The harm caused by a discovery of non-paternity was uncertain but real. We changed the informed consent form the next day to explain that genetic tests can reveal other kinds of information, including paternity and disease risks, and that counselors are available to discuss these matters.

In Case 2, the breast-cancer risk, we see how genetic information can lead to panic or worsein this case, a man who was fully prepared to subject his daughter to mutilating surgery to assuage his guilt. Not only did he require counseling, but his daughter needed to be protected as well. Soon after, we instituted a policy discouraging genetic testing for young children unless effective preventive treatment is available. When his daughter is old enough, and if she chooses, she can seek information about her breast-cancer risk.

Individuals need to understand the risks, benefits, effectiveness, and alternatives to genetic testing in order to understand the implications. Counseling, which is not always offered in conjunction with genetic testing, is highly advisable. In the case of those who can't consent (e.g., children, the dead), some form of surrogate consent ought to be required, possibly with third-party or committee review.

Privacy of genetic information should be established at the national level. At present, if you were to ask, "Is the genetic information that reveals my risk profile secure from insurance companies and employers, and from being shared with other researchers or sold to third parties?" the answer would be

No. If these protections do not exist, few will seek out genetic testing even though the information might be of great value to them.

We need to become more literate about the underlying science. Not long ago, I had occasion to speak with a group of legislators from a large eastern state. They had all seen pictures of DNA in national publications and knew about the Human GenomeProject, and they were concerned about regulation. "We're all very worried about genetics. We want to do something about genetics!" they declared. Before I responded, I asked them a question: "Where are your genes?" About a quarter thought that their genes were in their gonads! They are partly right. Another quarter located their genes in their brains. That's true too, although perhaps optimistic in the case of politicians. Only half of these elected officials knew that their genes are in every cell of their bodies. No one came up with any extra-credit "not in my hemoglobin"-type answers. Are we ready to decide policy issues that control genetically modified food? Do we know what to do about genetic knowledge in terms of counseling? What sorts of informed-consent principles do we want to put in place? Should we reveal inadvertently discovered genetic information, and if so, when and who should do so? We are a country that does not know where our genes are. As a first step, we must make ourselves more literate about genetics. If we do not educate ourselves, the Genomic Revolution will, I'm afraid, leave our values behind in a swirl of business hype and patient anxiety. Related Resources Bartels, Dianne, Bonnie LeRoy and Arthur L. Caplan, eds. Genetic Counseling: Ethical Challenges and Consequences. New Jersey: Transaction Publishers, 2011.

Caplan, Arthur L. "What Will Drive Genomics Over the Next Ten Years?" Science 331 (11 February 2011): 691.

Caplan, Arthur L., and Jonathan D. Moreno. "The Havasu Baaja tribe and Informed Consent." The Lancet 377 (13 July 2010): 621-622.

Davis, Dena S. Genetic Dilemmas: Reproductive Technologies, Parental

Choices, and Children's Futures. New York: Routledge, 2010.

Elger, Bernice. Ethical Issues of Human Genetic Databases: A Challenge to Classical Health Research Ethics? Burlington, VT: Ashgate Publishing Co., 2010.

Ravitsky, Vardit, Autumn Fiester, and Arthur L. Caplan, eds. The Penn Center Guide to Bioethics. New York: Springer Publishing, 2009.

Solbakk, Jan Helge, Soren Holm and Bjorn Hofmann, eds. The Ethics of Research Biobanking. New York: Springer, 2009.