In the course of a physical in advance of entering the National Basketball League draft, Isaiah Austin, a basketball player at Baylor University, learned that he has Marfan syndrome, a genetic disease that affects the body’s connective tissues and is often characterized by an enlarged and weakened aortic heart valve. As a result of this heart condition, playing a high impact sport like basketball puts Austin at risk for a rupture in his heart. Sadly, there are several other examples where athletes with Marfan syndrome – often undiagnosed – have died as a result of athletic exertions, including Olympian Flo Hyman. Austin decided to bow out of the draft after receiving his diagnosis.
About 1 in 5000 people have Marfan syndrome, which is caused by mutations in the fibrillin-1 (FBN1) gene. A person with Marfan syndrome has a 50-50 chance of passing the condition onto a child. However, about 1/4 of the people with Marfan syndrome don’t inherit the condition from a parent. In these cases, scientists suspect that the genetic change in the FBN1 gene happens spontaneously, which geneticists call a “de novo” mutation.
Austin had a great college basketball career, succeeding despite vision loss in one eye, a result of an injury that occurred playing baseball as a child. In an interview in the link above, he talks about how he is coping with this news, which was unexpected and very difficult to hear. In a recent article in Slate, “Sports Gene” author David Epstein is quoted talking about NBA players’ wingspan – which can be more predictive of basketball success than height – speculating that many NBA players have a wingspan that could be consistent with traits of Marfan syndrome. Will Austin’s diagnosis and the resulting increased public awareness of Marfan syndrome lead to more testing and awareness of high risk groups? Athletes and advocacy groups are debating how to use screening – sometimes involving genetic testing – to keep athletes safe and at the same time, balance concerns about privacy and autonomy.
In the discussions surrounding Austin’s announcement, there were questions raised about the Genetic Information Non-discrimination Act (GINA) and whether it afforded Austin any protections. Since GINA doesn’t apply to cases in which a genetic disease is manifest, it is more likely that Austin’s case would fall under the American with Disabilities Act (ADA). While the ADA requires employers to make a “reasonable accommodation” for a person with a disability, several legal thinkers, including Hank Greely and Michelle Meyer, shared their thoughts on Twitter on whether the NBA would have legal standing not to hire Austin as a result of his condition. Imagining a scenario in which Austin was willing to agree to the dangers of playing with Marfan Syndrome (note: there is no indication that this is the case), they suspect that part of the reason why the NBA would be justified is because his condition is a “direct threat to health and safety” (Meyer, via Twitter).