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The Human Genome Project, the result of an international collaboration of research scientists, was completed in 2003.  The goal of the project was to map the genes of a human being or a person's genome. The result was a "rough draft" of the human genetic code to which scientists are continually adding new information. Now that scientists have figured out an overview of the human genome, they are using their knowledge to predict and diagnose disease and to investigate appropriate medical treatments.

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On the surface, these applications seem laudable, but when one digs a little deeper into the subject of how the map of our genes could be used or misused, a dilemma arises.  The ability to manipulate the genetic nature of human beings by inserting, deleting, or replacing DNA,  deoxyribonucleic acid—the molecule that contains the genetic code of organisms—in the genome of a cell brings with it a tremendous opportunity for abuse and a myriad of complicated ethical issues. For some, manipulating the very nature of human beings crosses the boundaries of traditional limits, and even those who welcome these genetic advancements, experience an uneasy cognitive dissonance between what is possible and what should be applied.

The concept of altering human nature itself is mind-boggling, and yet for individuals afflicted with hereditary and chronic diseases, gene manipulation raises, not only the hope of preventing the inheritance of a defective gene by future generations but also the potential for using gene therapy to treat genetically-based disorders, in other words, a possible cure. Heady stuff. So where do we go from here? Before going forward, let's look back to examine the misuse of our genes in the past.

The purpose of looking at an issue through a historical lens is to discourage the repetition of past errors. At the same time, a historical perspective widens our understanding of the ethical implications inherent in applying today's knowledge of genes to the human genome.


Unfortunately, a look at our past offers many examples of discrimination against certain classes of people based on their genes. One such event occurred in the 1970s when several states required mandatory testing of African American children for the recessive trait of sickle cell disease. The goal was to identify the carriers of the illness to call attention to the risk that occurs when a carrier of the trait has children with another carrier. To achieve this goal, African American children were required to undergo mandatory testing before they could attend school. Those who refused testing were barred. 

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The African American community, bioethicists, lawyers, and the medical profession decried mandatory testing, calling it discriminatory. They pointed to other populations with genetic, debilitating diseases that were not subjected to mandatory testing. In the end, legislation was passed to fund testing in states that made it voluntary, and mandatory testing fell by the wayside. Now all parents of newborns, not just African American parents, are offered sickle cell disease screening.

In response to the reaction by those who felt mandatory genetic testing infringed on an individual’s right to privacy and opened the door to discrimination, the Equal Employment Opportunity Commission issued guidelines in 1995 allowing individuals who thought they had been discriminated against because of predictive genetic testing to sue their employers. This stand was backed up in 1996 by the Health Insurance Portability and Accountability Act (HIPAA) which prevents insurance companies from denying health care to individuals based on predictive testing when they transfer from one plan to another.

Even with these protections in place, a survey by the National Society of Genetic Counselors Special Interest Group in Cancer discovered that 68% of their survey respondents said if genetically tested they would not bill their insurance companies,  and 26% said they would use an alias. Both groups made their decisions based on fears that genetic testing would (1) open the door to discrimination against themselves or their children and (2) endanger their future insurability. Also, respondents felt the laws in place at that time were insufficient to protect them.

Another example of the misuse of genetic testing in the workplace occurred in 2000 when The Burlington Northern Santa Fe Railroad Company required its employees seeking medical treatment for carpal tunnel syndrome to submit blood samples which were used to test for a genetic defect that predisposes an individual to nerve injury and forms of carpal tunnel syndrome.  The US Equal Employment Opportunity Commission filed a lawsuit against the company charging that the testing defied the Americans with Disability Act. The case was settled against the railroad in May 2002 for $2.2 million.

These are only a few examples from our history wherein the misuse of genetic testing has brought to light the need to tread carefully as scientists and physicians apply what they have learned about the human genome.   

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It is the nature of scientists to pursue answers to questions. In a country where knowledge is cherished and learning championed, can we ever have too much information? Since the mapping of the human genome, scientists, ethicists, medical communities, and even everyday folks are revisiting the question of too much information. Let’s face it, knowledge by itself is not bad, but how it is applied, and the extent of the application can be. Who will oversee the use of this newfound information? Should society be concerned? Do we need to put protections in place?

​The reality of composing enforceable legislation to prevent the misuse of the results of genetic research is tantamount to finding a needle in a haystack. Why? Because ethicists, policymakers, constitutional scholars, scientists, the medical profession, public health authorities, and other concerned parties will likely never agree on what constitutes a positive application vs. a negative one, particularly if it benefits one group but not another. Experts may come to a  mutual understanding on individual applications, but consensus on oversight, regulation, and implementation—how the information resulting from gene research will be used—will remain elusive.

When it comes to a consensus, part of the problem is the inability to articulate with confidence every single variable that might be involved or result from a particular application. What works in one case may be disastrous in another, and sometimes, as scientists put into practice what has been learned, the outcome can be altogether different from what was expected.

As gene research and its practical applications move forward, the differences of opinions will complicate the notion of legislatively packaging a neat list of complete don’ts. Instead, as further applications, theories, and techniques evolve in the genetic arena, there will need to be scrutiny of each new advance to determine its unique advantages and disadvantages. If the government is expected to decide what can or cannot be done with our gene pool, then it must monitor this ever-changing situation with constant oversight. Also needed is an elastic legislative environment that brings to the table a governing body capable of staying abreast of the rapidly evolving area of genetics and agile in its ability and willingness to implement needed regulation, characteristics not commonly found in bureaucracies.

And then there is the rest of the world to consider. Who will monitor and decide how other countries apply their knowledge of genetics to our universal gene pool? A subject for another time ...

Articles on this site are written after careful research by the author of Twisting Legacy. Even so, the author is not an expert on any of the subjects. Please do your own research if you have questions about the authenticity of the information in the articles on this website.  

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