Why do we research our family history? While there are varying answers to this question, one common theme genealogists often repeat is that discovering our family histories tells us who we are. Our family histories tell us what traits and characteristics were passed to us from family members now gone, but they also give us an opportunity to think seriously about what we will pass on to future generations. In our research, we seek to add to our family’s narrative, thereby contributing to the world at large.
Much like the personal narratives that keep our life lessons alive when we are no longer here to share them, our genetic profiles–the sum of all of our genetic traits–are a picture of ourselves that is passed on to our children and to our children’s children. As Princeton University President and Bioethics Advisory Committee Chair Harold T. Shapiro has said, knowing our genetic profiles can help us fulfill our desires to add lasting meaning to human life.
In recent months, genetic profiles have moved to the forefront of discussion in numerous disciplines, from family history to philosophy and from science to law. This is due, in part, to new findings from the Human Genome Project, the combined genetic research efforts of biologists across the United States. As the discussion opens, people everywhere are finding that they are increasingly affected by genetic research, and they want to understand it.
More than three thousand such curious people assembled at Northwestern University in April to participate in a national genetics discussion. They were joined by a panel of experts who stand at the forefront of genetic research and policy. The experts included Rex L. Chisholm, professor of cell and molecular biology and director of Northwestern’s Center for Genetic Medicine; Charles J. Epstein, pediatrics professor and medical genetics researcher; Alexander Rosenberg, philosopher at Duke University; Lori B. Andrews, professor of law and director of the Institute for Science, Law, and Technology; and Shapiro, Princeton University president and chair of the National Bioethics Advisory Committee. This discussion raised questions and considerations that all people, and family historians in particular, will need to grasp before they make decisions about their own genetic information.
What Have We Learned So Far?
Think back to your high school or college biology class. Your instructor probably explained molecular genetics like this:
Our bodies are made up of basic building blocks called cells. Each cell has a nucleus, which controls the cell’s functions, along with other tools that help the cell and the body work. The parts of the cell are made up of proteins. Proteins, in turn, are made up of strings (DNA strands) of amino acids. On those amino acid strings, there are particles–Chisholm said to think of them as "pop beads"–called nucleotides, and these are given letter names of A, C, T, and G. Each set of three letters is a gene.
The order of the letters is very important, for it determines genetic traits. Our eye color, our hair color, our height, our predisposition to diseases, and more is contained in these beads of information that are too tiny to be seen by the human eye. In fact, all living things have genes. Humans happen to have 3 billion such "pop beads" on their strings, or enough to fill one hundred Chicago telephone books with letters.
Select genetic traits are passed from parent to child in a process we call heredity. While the process occurs at the cellular level, suffice it to say that the selection of the child’s traits is very much the result of probabilities. Some genes are dominant, meaning they are more likely to be passed on, and some are recessive, meaning they are less likely to be inherited.
The entire set of all of our genes is called a genome. Upon examination of various populations’ genomes, scientists have discovered that despite our past and present racial conflicts, we’re not so different from each other after all. In fact, as Dr. Chisholm pointed out, one person differs from another, genetically, by only one gene in every thousand.
Yet, genes are powerful enough that even small genetic differences can result in very different organisms. Consider: People only differ from chimpanzees by two nucleotides (letters) in every one hundred. And as we recently learned through the Human Genome Project, humans have only ten thousand more genes than worms. When it comes to inheriting diseases, a single gene change can result in a very serious illness, such as sickle-cell anemia.
Through the Human Genome Project, scientists are discovering that genes both cause diseases and predispose us to developing diseases. We can think of a genetic disease as the result of a mutated gene. With that in mind, it would seem a simple process to find the mutation and treat it, curing the disease.
The problem, Dr. Chisholm explained, is that "we have all the instructions, but we don’t know how to read them." He likened scientists’ predicament to holding a text book on astrophysics in your hands. Unless you’re an astrophysicist, you are unable to read the information in the book with any understanding, and you are therefore unable to use it.
However, as scientists slowly learn what the instructions are supposed to be, Chisholm said, they can then better understand what happens when one gene goes wrong.
Epstein, the UCFS pediatrics professor, was careful to note that while genes have a tremendous impact on our lives, they do not determine everything about us. "We are not fettered by our genes," he said, explaining that there is an important interaction between our genes and our environment that determines much of who we are.
Whatever that interaction, it has genealogists’ attention. Family historians have expanded their research to creating family health histories that track important, disease-causing genes in their families. While such research can only go back a few generations (because it relies on having samples of forebears’ DNA), it gives these historians a very meaningful "narrative" to pass along to the next generation. It’s a narrative that could save lives, but only if the genealogists can access the information, which leads to a major topic of genetic policy discussion.
Who Owns a Genetic Profile?
Rosenberg, the Duke University philosophy professor, and Andrews, Chicago University law professor, addressed this question in depth at the April conference. Rosenberg said the topic of ownership was in many ways linked to patents, and both speakers asked the audience to consider whether people could legally patent a genome.
Rosenberg introduced British philosopher John Locke’s "moral justification" for private property. Locke said that in order for someone to claim ownership of something (including an idea), two conditions must be met: (1) the person must have mixed his or her labor with nature to produce the property, and (2) the person must leave as good and as much of the property behind for others. By this definition, Rosenberg asserted, a genome cannot be claimed as property or owned; it therefore can’t be patented.
Family historians, who often benefit from the availability of free data on individuals and families, might be excited over this idea. If genetic information can’t be patented and isn’t owned by any one person or corporation, it is free for all to access and study. But Rosenberg warned that if information becomes readily available, discrimination in employment, insurance, and social circles could follow. (If you’ve seen the movie Gattaca, you have an idea of what Rosenberg was describing.)
Notwithstanding these risks, though, Rosenberg favors public availability of genetic information, as long as that information is regulated by the government. This would prevent corporations from taking advantage of privately held data for their own gain, he said, and therefore, it would prevent the public from having to pay a lot to access such data. Basically, it would put us all on equal footing.
Andrews cited a different definition of patentability: current U.S. patent law. She said that to get a patent today, you must simply show that your property is both unique and useful. In fact, last year, an English woman made headlines when she applied for a patent on her own body, saying it was indeed both unique and useful. By that definition, a genetic profile is private property and should be protected. In fact, you can patent formulas and products of nature according to the current law. But is patenting genetic code really the statute’s intent?
In the end, Andrews agreed with Rosenberg about the public availability of information, at least as far as patents were concerned. She said private patenting of genetic information prevents research because scientists are forced to invest a lot of money just to use the patent.
Privacy and patentability are issues all of us will have to consider as we prepare for future votes on genetic policy or the people who make it. But some other issues are already likely in today’s world. One is the patenting of vaccinations and disease-curing drugs. Rosenberg gave this example (one very close to home, considering recent headlines about pharmaceutical companies’ lawsuits over AIDS drugs):
Suppose Company A invests time and money in researching and developing a vaccination for a dreadful disease. Upon finding it, the company, which acts in rational self-interest, then patents the vaccination and puts it up for sale. Now suppose that much of the population of third-world Country X is suffering from the disease, and many lobbyists and other groups are petitioning the government to use the vaccination to relieve these people from their suffering. But Country X cannot afford to buy the drug at its current price. What would Country X most likely do? In Rosenberg’s opinion, Country X has a higher incentive to steal the vaccination (or obtain it in another, cheaper way than by buying it from Company A) and relieve its people than it does to uphold Company A’s patent.
But if Company A knows that this pirating of its patent is likely to occur, what incentive does it have to perform the research and develop the vaccination? Instead, Rosenberg said Company A will put its time and money toward curing diseases of the rich, such as baldness, and will not risk being exploited if it develops a truly helpful vaccination. (Keep in mind Company A’s very real costs: For each successful vaccination or drug it develops, it fails on several dozen others, all of which cost a great deal of time and money. And the researchers working on such projects are top-of-the-line scientists who also come with a high price tag.)
Rosenberg’s solution? Governments need to fund such research to prevent private companies from shouldering the risk. That way, when a vaccination is found, the government can make it available for less money.
Like the vaccination, then, the answer to the availability of genetic information for family historians would seem to lie with government regulation. As setting such policy turns our attention toward the future, let’s also consider what that future could potentially look like if genetic research is developed even further.
How Will Genetics Affect Our Future?
During the conference, Andrews said people are already using genetic information to make choices, and some of today’s examples may easily affect our near future:
Genetic D-Mail
Your genetic information has most likely already been stored in some form, Andrews said. When you visit your doctor, you give blood samples, etc., and that information is recorded. In some cases, the samples are saved, perhaps for future use. One implication of this, according to Andrews, is that in the future, the hospital may sell your genetic profile to a private company. Soon, you may begin receiving direct-mail advertisements or telemarketing calls for products geared toward your genetic profile. (For example, if you are predisposed to an allergy, you might receive direct mail advertisements for the corresponding allergy medication.) Pharmacy records have already been sold, Andrews said.
"Wrongful Life"
Andrews also asked people to consider the following scenario: Suppose you know that your unborn son will have a mild genetic defect, say, color blindness. Years later, after the child has grown up in a world of designer children and wants to be an artist, he finds himself disadvantaged in that world. Could he sue you for "wrongful life"? Andrews said this possibility is already a reality, and she mentioned a California court case in which a child with Tay Sachs disease sued his parents for allowing him to live when they knew his life would be short and marked by pain and hardship. She also spoke of a Michigan case in which a child sued his mother for taking tetracycline during pregnancy, thus giving him brown teeth.
Genetic Custody
In one final example, Andrews asked listeners to consider what would happen if a child-custody battle depended on genetic information. Could custody be determined by which parent’s genetic profile said he or she would live longest? Again, Andrews gave a current example: In South Carolina recently, a woman’s potential predisposition to genetically contracted Huntington’s Disease, an untreatable neurological disorder that causes death at about age fifty, interfered with her fight to win custody of her children. She refused to undergo a court-ordered genetic test for the disease and instead went into hiding, losing the battle; she was willing to give up her children rather than lose her hope for a long and healthy life.
These examples allude to one of the most controversial implications of future genetic research: child design. Could parents alter their children’s genetics? Could you improve your son’s intelligence, change your daughter’s physical features, or even choose whether you have a daughter or a son? And what about adding plant and animal DNA to the mix? Could you create people with the speed of cheetahs, the night vision of bats, or the ability to photosynthesize? And would you want to? Could you clone a human being? Could such activity be prevented once developed, or would it consistently appear on the black market?
These are questions Dr. Epstein said will not surface in the near future because genetic research has not advanced nearly that far (remember Dr. Chisholm’s metaphor about the astrophysics book). Epstein called such prospects "technically mind-boggling" because they depend on multi-gene analysis, which scientists don’t yet understand.
Andrews noted, however, that the public has already been considering such prospects for some time, according to a 1992 Lou Harris/March of Dimes poll. The poll found that 42 percent of respondents said they would use genetic enhancement to make their kids smarter, and 43 percent said they would upgrade their children physically.
More recently, a 2000 Harris poll found that the number of people interested in using genetics to alter their children has grown. Seventy-one percent of the 15,331 people surveyed in 2000 said they would use genetic knowledge to remove genetic defects in their children, and 69 percent said they would eliminate children’s disabilities. Only 7 percent favored cosmetic alterations such as changing eye or hair color.
With much of the public already considering such options, it does not seem too early to begin talking about the policies governments should implement regarding genetic research and genomic data storage.
What kinds of policies should we create? Shapiro, who as chair of the National Bioethics Advisory Committee is in the position to make those policies, explained the difficulty. "How do you set policy in morally contested areas?" he asked. Like the abortion debate, genetic policies will draw strong opinions–based on moral and religious beliefs–on both sides, he said, and no matter what the policy, someone will be offended. The key, Shapiro said, is to write a policy in such a way that it "broadcasts empathy to those who disagree."
As a population segment with specific genetic interests, family historians are poised to get involved in the discussion over genetic research and to make their opinions and policy ideas known, hopefully in a way that broadcasts empathy, as Shapiro has suggested.
The broad range of topics and disciplines covered at the April symposium is testament to the fact that the study of genetics is far-reaching and will affect each of us in some way. It will affect the family narrative we add to and create by enhancing the wealth of information we know about our ancestors and the wealth of information we pass on to our descendants. Through genetics, we will have a more complete understanding of each other. We’re all seeking to discover our own lineage. With genetic research, we seek to discover the lineage of humanity.
Note: An archived version of the Webcast for "The Human Genome: Progress, Problems, and Prospects" is available at www.northwestern.edu.
The Participants
Rex L. Chisholm is a professor of cellular and molecular biology at Northwestern University and the director of the Center for Genetic Medicine. His studies have focused on processes critical to the genetic modification of animal cells, on gene expression, and on cell motility.
Harold T. Shapiro is president of Princeton University and chair of the National Bioethics Advisory Committee. From 1990 to 1992, he served as a member of President George H. W. Bush’s Council of Advisors on Science and Technology. He is also a trustee and chair of the board of the Alfred P. Sloan Foundation.
Lori B. Andrews is a University of Chicago professor of law and director of the Institute for Science, Law, and Technology. She chaired a federal working group on the ethical, legal, and social implications of the Human Genome Project and has been an adviser on genetics to the U.S. Congress, the World Health Organization, the National Institutes of Health, the Centers for Disease Control, and several foreign nations, among others.
Alexander Rosenberg is a philosophy professor at Duke University with an interest in the philosophy of biology and the social sciences. The recipient of multiple fellowships and the author of ten books, his most recent work is Darwinism in Philosophy, Social Science, and Policy.
Charles J. Epstein is a professor of pediatrics and chief of the division of medical genetics at the University of California, San Francisco. He is president-elect of the American College of Medical Genetics, former president of the American Society of Human Genetics, and former editor of the American Journal of Human Genetics.
Megan Vandre is a former contributing editor of Ancestry Magazine. She is pursuing a master’s degree in journalism at Northwestern University’s Medill School of Journalism.
Return to the Ancestry Magazine July/August 2001 Table of Contents.
