A lawsuit is now in action about a boy who was kicked out of his Palo Alto, California middle school because he is a carrier of cystic fibrosis (CF). The basis for this was that there were other families in the school whose kids are affected with that disease. The parents of the kids with CF claimed that carriers of CF are at increased risk of ‘contaminating’ their children by exposing them to serious infections. The carrier boy’s parents are suing the school district for genetic discrimination.
There are many strange things about this story and I would like to bring them up and try to make sense of this.
- The parents of the kids with the disease CF claimed that carriers of CF are at increased risk of ‘contaminating’ their children. This is not true at all. Let me start by reminding you what it means to be a carrier of an autosomal recessive condition. CF is common in all populations and is recessive, like the other diseases we recommend testing our Jewish patients for prior to a pregnancy. In all autosomal recessive diseases, carriers (those with one working and one non-working copy of the gene) do not exhibit any symptoms of that disease. Some studies are finding that carriers of certain diseases are at increased risk for other, unrelated medical issues, but I can not think of a single example of a carrier having any symptoms of the disease for which they are a carrier. The only concern for a carrier is if his/her reproductive partner is also a carrier of the same condition, in which case, there is a 25% chance that each of their children will be affected with the disease. It is important to note that there is a form of CF caused by milder mutations called “non-classic CF”, which is generally milder than the classic CF and may also include male infertility as a symptom; this type of CF may be mistaken for carrier-status, but they are not the same. True carriers are asymptomatic. And, one who is a carrier is not contagious (however, there definitely are grounds for separating people with certain genetic conditions who are more prone to getting serious infections and spreading them to others with the same condition).
- Were his parents required to share this kind of information (e.g., their son’s carrier status) with the school? No, it is not important to share this kind of information because it does not affect the health of the child—or anyone in contact with the child. I do not know why the mother disclosed this information since carrier status is not life-threatening like a nut-allergy or diabetes might be and it is not contagious like head lice or Fifth’s disease. In addition, being a carrier shouldn’t be considered a stigma. In fact, now that we are recommending carrier screening for our Jewish patients for nearly 100 diseases, we are finding that greater than 1 in 2 people are carriers. How could being a carrier be a stigma with so many people in that category!?
- So why was the information shared? Genetic results can easily get into the wrong hands, and we must watch out for ourselves. According the lawsuit, the student’s mother had claimed that she disclosed the information on the school’s medical form and that this information was shared with the parents of the affected children. This case is an interesting one because it raises a broader issue of WHO should be seeing genetic information and HOW this information should be used appropriately. Chani wrote a really great piece about GINA, the one law that does protect those with genetic conditions from certain types of discrimination. Hopefully there will be further legislation in this realm, but in the meantime, be careful about disclosing medical information. Genetic results can easily get into the wrong hands, and we must watch out for ourselves.
- We should be protecting the sick from dangerous and infectious situations, but at the same time, we must not forget to do our research first and learn about a topic before making assumptions. While I do not know all the details of this case, I can say that in general, we should take it upon ourselves to learn before we react.
While this incident was very unfortunate for this boy and his parents, I hope that we can learn some lessons from it. Carriers of recessive diseases should be careful in disclosing this information and should only be concerned if their reproductive partner is a carrier of the same condition. Therefore, it is recommended that carriers reveal their status to potential partners and blood relatives as well. There is no reason to disclose this kind of information to anyone else since there is nothing to hide. (NOTE: Being a carrier of autosomal dominant conditions—in which having one mutation predisposes you or might even guarantee a disease in the carrier him or herself– is a whole other story, but let’s save that for another blog)
We often talk about how genetic testing can help you, and the reasons that someone might want to have genetic testing done. What we don’t speak about so often is the practical (and legal) repercussions of having certain types of genetic testing. What I’m talking about here is genetic discrimination.
So here is the example. You have a genetic test and find out that you have a higher than average risk to have an aortic aneurism (which is very bad). Now, obviously we send you to a cardiologist and try to take steps to keep you healthy. But what does your employer do? What does your health insurance do?
The good news is that there are laws in place to protect you from being discriminated against due to your genetics. Different states may have unique laws in place to protect your rights. There was also a federal law passed in 2008 called the Genetics Information Non-Discrimination Act (GINA) which basically states that your health insurance and employer cannot discriminate against you based on a genetic test result.
So for example, you go to the doctor and your heart is deemed to be fine, but you have this genetic test result which indicates your increased risk for an aortic aneurism. Your health insurance cannot drop you, refuse to cover you, or raise your rates or premiums. An employer cannot refuse to hire you, fire you, pass you on a promotion, make changes to your pay, etc. based on that genetic test result.
However, this law does not protect against discrimination from life insurance or long term care insurance companies. (Granted, if you already have an aortic aneurism, that will probably trump the genetic test result.) However, it is definitely important to consider, especially for those who are pre-symptomatic. We often bring this up in our cancer genetic counseling sessions, especially for those who have not had cancer, but are at risk to have a BRCA mutation based on family history. The decision and timing of when to pursue genetic testing sometimes takes in to account purchasing or updating long term care insurance and life insurance policies.