When Colman Chadam was born in Singapore in the first year of the 21st century, doctors discovered he had a congenital heart problem. In dealing with the situation, they carried out extra testing that revealed he also had the genetic markers for cystic fibrosis. Fortunately, he never developed the disease.
However, years later, when it came time for Colman's parents to enroll him in a middle school in Palo Alto, California, they noted the results of those tests on the medical forms they were asked to fill out. It appears that teachers then passed on this information to two other parents whose children were enrolled at the school. Those children both had cystic fibrosis.
Here's the thing: Kids with cystic fibrosis are supposed to steer clear of one another because they're mutually vulnerable to dangerous infections from certain bacteria they carry. Fearing for their children's safety, the siblings' parents asked the school to make Colman leave. Astonishingly, the school board did so.
While the fear was understandable, it was unfounded. Since Colman didn't actually have cystic fibrosis, he wasn't a threat. And even if he did have the disease, did the school have the right to share his genetic information with others? His parents took immediate legal action, and the school readmitted the boy a few weeks later. But that didn't appease his parents. In 2013 they filed suit against the school alleging a new kind of offense — genetic discrimination.
Their claim is that the Palo Alto school board's action violated the Americans with Disabilities Act (ADA), in addition to Colman's First Amendment rights, because information about his DNA was disclosed without his permission. A district court dismissed the case, but the Chadams appealed the dismissal, and as of March 2016 the case is back in court.
Many are watching the case closely because the results could set an important precedent for what are sure to be many future legal disputes. When Colman was tested as a baby in 2000, DNA tests weren't the norm. Now they're becoming more and more common. What if those test results end up in the wrong hands, predisposing educators, employers or insurers to discriminate against people who are deemed to have the wrong DNA?
In May 2008 President George W. Bush signed a new law into effect: the Genetic Information Nondiscrimination Act (GINA). It's pretty self-explanatory: GINA was designed to prevent health insurers and employers from discriminating against American citizens based on their genetic information. Legislators were motivated, in part, by the desire to ease citizens' fears about having their DNA tested. After all, in some instances, DNA testing could help improve the health outcomes of individuals with certain genetic predispositions.
Important as it is, GINA is limited in scope. It says nothing about life insurance, for instance, or educational organizations such as the Palo Alto school board. That's why the Chadams used the ADA and not GINA to argue their case.
Nevertheless, GINA can be, and has been, used in court. In one of the first cases in which GINA was cited, a woman named Pamela Fink claimed she was fired from her job because she had tested positive for the BRCA 2 gene mutation that indicates an increased risk of developing breast cancer. The case was settled out of court.
Oddly enough, the first time a GINA case actually went to trial had to do with excrement.
Dateline: Atlanta, Georgia. The warehouses operated by Atlas Logistics Group Retail Services are filled with groceries waiting for delivery to a variety of stores in the area. They were also being stocked with felonious feces from an anonymous contributor. That's to say, somebody was pooping where they shouldn't.
Unable to track down the offender, Atlas requested that two suspected employees fork over their DNA via cheek swabs. The company then compared the DNA from the swabs with that found in the errant poo. No positive results, and the employees were peeved. In 2013 they sued, putting GINA to the test. The law says employers can't use their employees' genetic information to hire, fire, promote or demote them.
Atlas argued that GINA wasn't pertinent in the case because they hadn't asked for the swabs to learn anything about their employees' medical history, but rather to identify an offender. The jury didn't buy it. If the DNA of the employees had matched the poo, it was clear the two men would have faced consequences amounting to demotion or firing, either of which is illegal under GINA. The jury awarded the employees $2.25 million in damages [source: Beck].
The U.S. Equal Employment Opportunity Commission (EEOC) enforces anti-discrimination laws. In 2010 they cited GINA in 201 (or 0.2 percent) of the cases they filed. That number rose to 333 (or 0.4 percent) by 2013 and then fell to 257 (0.3 percent) in 2015. Those are relatively small numbers, and for the most part, employers don't seem to be using genetic information in ways that violate GINA, so it appears that the law is working. Or is it?
The late Sen. Ted Kennedy, one of the sponsors of GINA, called the bill "the first civil rights bill of the new century of the life sciences" [source: Wadman]. This points to the importance of genetic discrimination, but does GINA go far enough? After all, while employers and health insurers can't use genetic information, a large and important loophole allows insurance companies that provide life, disability and long-term care plans to do so. Should they be able to?
On the one hand, insurers measure a whole range of risk factors when calculating your premium for, say, life insurance. Do you smoke? How much do you weigh? Did any of your relatives die of cancer? That last question already provides a form of genetic information, and it's perfectly legal for insurers to ask it — so why shouldn't they be able to find out whether you have the genetic markers that indicate you're at a high risk of contracting something lethal?
Huntington's disease is the classic example. A neurodegenerative disorder, Huntington's is inherited. It might be rare in the general population, but children of people with the disease have a 50 percent chance of getting it. So if you have a parent with Huntington's, your life insurance premium is going to be through the roof — if, that is, you can even find somebody who will cover you. That sounds like genetic discrimination, but insurance companies argue that if they don't charge appropriate premiums to high-risk individuals, they'll be forced to raise premiums for everybody else.
However, inherited genetic disorders like Huntington's or breast cancer via the BRCA 2 gene are extremely rare. So rare, in fact, that insurers in countries like the U.K. have agreed to ignore the results of genetic tests when calculating premiums [source: Macdonald]. This could be thanks to the fact that Europeans have been thinking about, and legislating against, genetic discrimination since as early as 1990 [source: Hoyweghen and Horstman].
Insurers, of course, would rather not see more laws barring their access to information. Some even argue that the more information they have, the more people they can insure. In the past, for instance, somebody who survived a heart attack might not have been able get life insurance. Now, thanks to medical research and advances, their likelihood of getting a policy has improved [source: Hausman].
And what happens if insurers are banned from accessing genetic information? What if more and more people get their DNA tested and more and more of us discover we're at an increased risk of developing a fatal disease? That might motivate more and more of us to buy life insurance, which could, in turn, unbalance the pool of clients, resulting in too many claims for companies to handle [source: Collins].
On the other hand...
The thing is, if insurers can nose around in your DNA, some scientists worry that fewer people will risk ever having their genes tested in the first place. Say a volunteer offers to be tested for research purposes but then, some years later, decides to take out a life insurance policy. Should the insurers have access to the data from those tests? Researchers fear that such a scenario could be a disincentive for potential research subjects [source: Collins].
Research aside, allowing insurers or other parties access to our genetic information might diminish enthusiasm for sequencing our spiral helixes. That, in turn, might damage our long-term health prospects. What if, for instance, we decide against genetic testing because we're worried our life insurance premium might be affected? It might be that we'll develop a heart disease that could have been predicted by testing. That's the argument advanced by the Council for Responsible Genetics (CRG).
CRG fears, among other things, that we might leap to uninformed conclusions about an individual's future health outcome based on poor information. As it stands, they argue, we don't really have a good understanding of the relationship between our genes and our health [source: Gruber].
Take this example: When a woman in her mid-40s had her DNA tested, the results indicated she had a higher likelihood than normal of developing schizophrenia. But when she consulted an expert, she learned that her particular genetic variation was relevant only for men from a specific island population. In her case, it had no meaning at all. Had an insurer been provided with this information without the benefit of an expert's insight, the woman's policy might have been adversely affected [source: Haidle].
CRG points out that because genetic disorders aren't infectious diseases, they occur at a steady rate. In other words, the incidence at which they occur should already be encoded in the actuarial tables used by insurers. Therefore, according to CRG, there should be no need for insurance companies to gain access to genetic information [source: CRG].
It appears that public opinion might be on the side of CRG. Already, many states have adopted laws banning different types of insurers from factoring genetic test results into their policies.
But all that said, and while there have been documented cases of genetic discrimination, when researchers look at the data, there's no evidence of widespread discrimination by insurers [source: Knoppers]. Not yet anyway.
When Ethan Hawke and Uma Thurman appeared in the movie "Gattaca" back in 1997, the technology that drove the plot didn't yet exist. The story was supposed to take place sometime in the 2020s. In that near future, medical science had advanced to such a degree that parents could ask experts to genetically tinker with their embryos in order to create near-perfect human specimens.
The idea was not that anybody had grand plans to create a master race, but simply that parents wanted to give their children the best possible start in life, and those who could afford to, did. Affordability was key. In "Gattaca" the result was that society had become stratified into two classes, "valids" born to parents who could afford to make sure they had perfect genes, and "in-valids" who were born the old-fashioned way and were deemed genetically inferior.
Compelling sci-fi fantasy, but fantasy nevertheless. Right? Well, as it turns out, "Gattaca" wasn't that fantastical after all. Around the time the film came out, scientists were already working with a new fertility-related technique called preimplantation genetic diagnosis (PGD). This technology evolved with the growth of in vitro fertilization (IVF). PGD allows clinicians to analyze the DNA of an embryo that's just days old. The analysis can find those rare conditions that are caused by a single gene mutation, like Huntington's, Tay-Sachs or cystic fibrosis. In fact, the technique was supposed to be used only when such unusual, but debilitating, diseases were considered likely to appear [source: Jabr].
Of course, one problem with this technology is that it can be imprecise. Think of the earlier case of Colman Chadam who had the genetic markers for cystic fibrosis but never developed it. And, as is the way with technology, unintended consequences always appear. In one remarkable case, rather than screening to prevent a perceived disability, a deaf, lesbian couple wanted to ensure their child would in fact be born deaf. Every sperm bank they queried refused to screen for the condition, claiming they didn't accept sperm from deaf men. In the end, a family friend provided the necessary genetic material, and the couple's son was born partially deaf. While some bioethicists and doctors were outraged, the couple argued that deafness is a culture, not a disability and that they had every right to want their child to be a part of their community [source: Jabr].
Since the development of PGD, people have also used it to make sure their kids won't be the "wrong" sex. In fact, sex selection is one of the more common uses of the technique. It's illegal in Canada and the U.K., but not in the U.S. That's because there are rare cases where you can avoid a genetic disorder by selecting for a specific sex. Doing it for other reasons (e.g., you just really want a daughter) is frowned upon but not policed [source: Jabr].
And speaking of unintended consequences, forensic geneticists have been able to link certain physical characteristics like eye and hair color to genetic makeup. Already, the head of an international group of fertility clinics has proposed offering parents the ability to customize their children's appearances [source: Jabr]. Although he was roundly condemned for this by other clinicians (not to mention the Vatican), it's not hard to believe that when such technology becomes available, there are parents who will quietly opt for it. Right now, there's no law that says they won't be able to. And the fear is that in the absence of laws, the market will rule. And if the market rules, and genetic technology continues to develop, the consequences could be rather Gattaca-ish, with a society divided between those born into families who can afford to genetically modify their children and those who can't. That'll be an all-new kind of genetic discrimination.
Author's Note: How Genetic Discrimination Works
It seems to me that a high-tech version of eugenics is already here. When women in the developed world become pregnant, health care providers typically offer them the option of testing the embryo for the possible presence of Down syndrome. Parents can do what they will with the resulting information, including terminating the pregnancy. DS is not a life-threatening condition. It's not even a disease. As genetic technology advances, there will be more and more of these kinds of tests with more and more profound decisions to be made. Having a kid will just become more and more nerve-wracking.
More Great Links
- Beck, Julie. "Genetic Privacy, As Explained by Mystery Poopers." Aug. 3, 2015. (March 8, 2016) http://www.theatlantic.com/technology/archive/2015/08/the-case-of-the-mystery-pooper-dna-privacy/400355/
- Collins, Francis S. "Questions on Genetic Tests Remain; Some Rules Should Be Clear." The New York Times. April 14, 2014. (March 10, 2016) http://www.nytimes.com/roomfordebate/2014/04/14/dna-and-insurance-fate-and-risk/questions-on-genetic-tests-remain-some-rules-should-be-clear
- Council for Responsible Genetics. "Genetic Discrimination." 2016. (March 7, 2016) http://www.councilforresponsiblegenetics.org/ViewPage.aspx?pageId=85
- Genetics Home Reference. "What Is Genetic Discrimination?" Feb. 29, 2016. (March 7, 2016) https://ghr.nlm.nih.gov/handbook/testing/discrimination
- Gilbert, Natasha. "Why the 'Devious Defecator' Case Is a Landmark for US Genetic-Privacy Law." Nature. June 25, 2015. (March 8, 2016) http://www.nature.com/news/why-the-devious-defecator-case-is-a-landmark-for-us-genetic-privacy-law-1.17857
- Gordon, Andrea. "Cystic Fibrosis Patients Can't Risk Health by Meeting in Person, but Now Have Online Hangout." Toronto Star. May 16, 2013. (March 8, 2016) http://www.thestar.com/life/health_wellness/2013/05/16/cystic_fibrosis_patients_cant_risk_health_by_meeting_in_person_but_now_have_online_hangout.html
- Gruber, Jeremy. "Guarantee Privacy to Ensure Proper Genetic Treatment." The New York Times. April 14, 2014. (March 10, 2016) http://www.nytimes.com/roomfordebate/2014/04/14/dna-and-insurance-fate-and-risk/guarantee-privacy-to-ensure-proper-genetic-treatment
- Haidle, Joy Larsen. "Genetic Test Results Are Not Always What They Seem." The New York Times. April 15, 2014. (March 10, 2016) http://www.nytimes.com/roomfordebate/2014/04/14/dna-and-insurance-fate-and-risk/genetic-test-results-are-not-always-what-they-seem
- Hausman, Shawn. "Let Insurers Have Data and Trust to Get It Right." The New York Times. April 14, 2014. (March 10, 2016) http://www.nytimes.com/roomfordebate/2014/04/14/dna-and-insurance-fate-and-risk/let-insurers-have-data-and-trust-to-get-it-right
- Hoyweghen, Ine Van and Klasien Horstman. "European Practices of Genetic Information and Insurance." JAMA. Vol. 300, No. 3. Pages 326-327. July 2008. (March 16, 2016) http://jama.jamanetwork.com/article.aspx?articleid=182233
- Jabr, Ferris. "Are We Too Close to Making Gattaca a Reality?" Scientific American. Oct. 28, 2013. (March 11, 2016) http://blogs.scientificamerican.com/brainwaves/are-we-too-close-to-making-gattaca-a-reality/
- Knoppers, Bartha Maria. "It's Yet to Be Shown That Genetic Discrimination Exists." The New York Times. April 14, 2014. (March 7, 2016) http://www.nytimes.com/roomfordebate/2014/04/14/dna-and-insurance-fate-and-risk/its-yet-to-be-shown-that-genetic-discrimination-exists
- Macdonald, Angus S. "Risks are Too Small for Insurers to Worry." The New York Times. April 14, 2014. (March 10, 2016) http://www.nytimes.com/roomfordebate/2014/04/14/dna-and-insurance-fate-and-risk/risks-are-too-small-for-insurers-to-worry
- National Human Genome Research Institute. "Genetic Discrimination." July 31, 2014. (March 16, 2016) https://www.genome.gov/10002077
- NIH National Human Genome Research Institute. "Genetic Information Nondiscrimination Act (GINA) of 2008." March 16, 2012. (March 8, 2016) http://www.genome.gov/24519851
- U.S. Equal Employment Opportunity Commission. "Charge Statistics FY 1997 Through FY 2015." (March 16, 2016) http://www.eeoc.gov/eeoc/statistics/enforcement/charges.cfm
- Wadman, Meredith. "Banning Genetic Discrimination." Nature. April 25, 2008. (March 9, 2016) http://www.nature.com/news/2008/080425/full/news.2008.780.html
- Wagner, Jennifer K. "Genetic Discrimination Case Against School Board Is Appealed to the Ninth District." Feb. 2, 2016. (March 8, 2016) http://www.genomicslawreport.com/index.php/2016/02/02/genetic-discrimination-case-against-school-district-is-appealed-to-ninth-circuit/
- Zhang, Sarah. "DNA Got a Kid Kicked out of School — And It'll Happen Again." Wired. Feb. 1, 2016. (March 7, 2016) http://www.wired.com/2016/02/schools-kicked-boy-based-dna/