Reading on another site and saw that genetic testing for sickle cell disease is mandatory before you can even try out for a college sport. I understand that this is often done at birth due to mandatory genetic screenings but some posted that the college would not accept that result. I am a nurse and it baffles me that they would only require testing of a rare genetic disease yet not require cardiac testing such as ekg or echo or something as sudden cardiac deaths in athletes is more common than sickle cell crisis in someone who didnt know by age 18 they had the disease.
At first glance this made no sense to me at all. However upon looking a bit furtherâŠ
Apparently most people who have only one copy of the gene defect that causes sickle cell anemia have no symptoms and are fine living a normal life. They might be unaware. However, they can suffer problems with heavy exertion, and some precautions should be made. This might be worse in hot weather or at high altitude.
Also having only one copy of the gene defect along with one normal copy of the gene is quite a bit more common compared with having two bad copies of the gene.
The nurse in me understands SCD and trait as Ive treated hundreds. Its just odd that with all the genetic diseases that can cause issues with stamina, etc, why only proof of sickle cell disease? Why not show proof of thalassemia or congenital heart disease? Why not require a 12 lead or rule out WPW or echocardiogram?
I believe this requirement resulted from a legal settlement.
Athletes get a full work up prior to the season. The athletic medicine department at each school handles this and it will often include an echocardiogram and other testing.
As is the case so often, a tragic event explains this how this policy came to exist.
Dale Lloyd II was a football player at Rice who died after a practice in 2009, and the cause was determined to be related to sickle cell. The family sued Rice and the settlement was not made public, but part of the settlement required sickle cell testing of all athletes, which started in 2010 in D1 and over the next few years that testing became a requirement across all NCAA divisions.
ETA: itâs important to note that many colleges were already testing athletes for sickle cell before Lloydâs death, as highlighted in the linked article above. College medical clearance requirements can vary quite a bit across schools, conferences, and divisions beyond what the NCAA requires of all.
Also, in 2006 US mandated sickle cell testing in all newborns, so we are at the point where nearly all incoming college students born in the US will likely have already been tested.
Late onset Tay Sachs? MS (is there a genetic marker-- I donât know), Huntingtonâs?
Agree with OP that focusing on this particular genetic test vs. the others that can cause debilitating symptoms/death is peculiar. And the comprehensive physical at college with EKG etc. is terrific- but it wonât reveal a genetic non-cardiac disorderâŠ
I suppose it might seem peculiar if the assumption is that the policies emanate from a single, ordered assessment of medical risk. I donât think thatâs how it works though. I always assume these requirements are the result of various factors, including legal settlements and liability concerns. Add those to what the head of athletic medicine feels is medically appropriate and the policy will seem like a hodge podge.
I never spent much time thinking about this. My memory is that my kids spent nearly a full day on compliance and medical testing. My impression at the time was that some things seemed like a waste of resources for their particular sport, but that overall the important bases were covered.
My athleteâs college accepted their newborn screening - and the results were easily available through our state. There has been a significant reduction in sudden deaths of athletes since the requirement was implemented, so I donât think thatâs crazy at all. It is devastating to a team and a college to have an athlete die. See here: Sudden Death Associated With Sickle Cell Trait Before and After Mandatory Screening - PMC
âThe incidence of daSCT in Division I (DI) football athletes before legislation (n = 9) was 1:28,145 AY and after legislation (n = 1) was 1:250,468 AY (relative risk [RR], 0.112; 95% CI, 0.003-0.811; P = 0.022), an 89% reduction in risk after legislation was enacted.â
And of course, politics, under which State legislatures requires SCT testing of newborns. (which is all that we can say since this is not in the political forum)
Thalassemia traits are probably the closest analogues to sickle cell trait in medical and athletic effects, in that asymptomatic carriers of the gene variation may encounter medical issues during intense physical activity, but are also more resistant to malaria.
Yes, I saw that (which as noted is typical). Sudden cardiac deaths have improved access to AEDs in schools and at sporting events. But not all college sports require cardiac testing and such which is why I felt the universal SCD test was odd.
I had that thought as well but then all colleges should accept results from birth.
Is your concern that there is testing happening that shouldnât be, or testing that should be happening but isnât?
As far as the SCT I think most (all?) colleges accept prior results. In the past there was a waiver (of testing, not awareness training) but I donât know current practice.
I would expect most colleges do accept results from the test done at birth (or really anytime), but there are many people who donât have good vaccine records for their kids, and not all states have that info either. NCAA no longer allows the SCT test waiver.
I donât even remember my daughter getting a physical before starting her college sport. Maybe she did at the campus health center? If so, it was a very short one. Before that sheâd been getting the hs sports physicals (âbreath in, breath out, youâre goodâ)
When we checked in for college, she had to have her list of vaccinations, and I had to sign some medical documents because she was only 17. I know no testing was done at birth as she wasnât born in the US. Did I give permissions for genetic testing? I donât know. If I did, I never received results.
My sister-in-law, who was a D1 athlete in the 1970s, had Huntingtonâs in her family. Her father died from it before she started college and then her (only) brother about 25 years later. There was no testing at the time, and there wasnât until after she had to decide whether to have children. She did have 2. Testing is now available but they all decided not to do it once available. Niece and Nephew decided not to have children (for lots of reasons but this was one) SIL is now 66 so likely doesnât have it and couldnât have passed it on.
This article, about a Bucknell football player who collapsed and died with a sickle cell disease, mentions him getting tested prior to camp, not at birth.
I wonder how an athlete can survive 4 years of HS football and then have this happen in college. The âup-downsâ must be way more intense than I realize.
Definitely difference in games and practices, size of other players, pressure to go all out and make the team. There are also growth spurts at different times. The player might also be at a college with different conditions for practice like high altitude, heat, humidity.
Part of me wonders why they are only doing genetic testing for sickle cell trait and not for genetic heart (and other) conditions that might impact an athlete. The other part of me sees the ethical and other issues that could evolve.
That being said, I would think they would do more heart testing.