Why counseling?

February 10, 2010 4:10 PM

Why does my brother have to see a genetic counselor for a disease that his child only carries?

I should probably know the answer to this, since I am a molecular biologist, but I don't... There's a counseling aspect that I am not familiar with.

My brother has several children, all healthy, and their baby has tested as a carrier for an inborn error of metabolism. This means either my brother or his wife is a carrier. (Or maybe both of them, and they dodged the bullet. But SIL just had a tubal ligation.) The other kids may also be carriers, and knowing this, should be tested before they have kids of their own. This disease is recessive and there isn't a disease phenotype associated with being a heterozygote.

So my brother asked me why their doctor has referred them for genetic counseling and what they can expect to happen when they go. Does anyone have any experience with this?

posted by Knowyournuts to Health & Fitness (12 answers total)

Is it possible that their doctor wants them to be informed so that they are able to explain to their children the implications of being the carrier for this disease?

Or, does the doctor not know that your SIL has had her tubes tied?

Seems to me there could be a bunch of explanations, and it's sort of dependent upon what this doctor has been told by your brother and his wife.
posted by dfriedman at 4:14 PM on February 10, 2010

FWIW, the Wikipedia entry on genetic counseling essentially repeats my first thought: genetic counseling in this case would be for the parent to be educated about how to convey the information to his kid(s).
posted by dfriedman at 4:17 PM on February 10, 2010

Also when one family member has a genetic polymorphism like this it has implications for the wider family, including possibly you. If your brother is a carrier then you or your immediate family might also be. So there can be ethical issues with whether the parents get tested, if and how they tell their extended families, who gets to decide who's tested, all that sort of thing. For example if you're planning on having kids soon you have some stake in knowing if it's your brother or his wife that's the carrier, so there are issues with if you get a say in them finding out or spreading that information. A genetic councillor should be able to talk to them about if this stuff is even relevant and give advice on how to proceed if it is. It might even be that the advice they're given is that it's not a big deal and not to worry, but that's still something useful to know.
posted by shelleycat at 4:41 PM on February 10, 2010

Best answer: Right. I've had genetic counseling, and the it was for me to understand the nature and likely progression of my condition; my chances of passing it on to a child [this is obviously irrelevant in this particular case for your brother, since they've already passed it on and won't have more children]; what it would mean, medically/socially/etc. for an affected child (if I were to have one); and any implications for the rest of my family (particularly my sister and her kids).

Maybe the term "counseling" it's what's throwing you (and your brother). In my experience, it was really just a conversation where someone laid out the science of the disorder for me in as much detail as I was interested in (and I was interested in a lot!), and I could ask all the questions I wanted.
posted by scody at 4:45 PM on February 10, 2010

(er, that "Right" was in response to dfriedman's second comment, not me just trying to sound like a Brit who just wandered into the conversation.)
posted by scody at 4:46 PM on February 10, 2010 [2 favorites]

They doctor may have also considered the possibility that your brother might have children in the future with some other woman, so if he is the carrier he will need this knowledge.
posted by BlahLaLa at 4:59 PM on February 10, 2010 [1 favorite]

Best answer: I've also had genetic counseling - and it was at the stage when I was about to test for a genetic mutation (associated with breast cancer in Ashkenazi women) that there was a decent chance I had, but before we knew for sure whether I had it.

Being in that position was stressful enough. Actually knowing that you have or are a carrier for something must be even more so.

Genetic counselors are educated about the science of what's happening in our bodies, impact on children, family members, etc, but they are *also* counselors - ie,

- They are there to educate you and they have more training and skills for that than your average health care provider
- They're familiar with the socio-psychological aspects of dealing with these genetic issues, and can help you figure out your own responses, questions, worries, etc

When I started this process, even though I have a friend who's a genetic counselor and whom I respect very much, I felt a bit like - hello, I'm an intelligent adult, just do the test and tell me the results.

But I found the process very useful, both intellectually and emotionally. It's a great resource (not that giving doctors more education about the educational and psychological aspects of patient treatment wouldn't still be a fantastic idea).
posted by Salamandrous at 5:00 PM on February 10, 2010

This means either my brother or his wife is a carrier.

I hate to be insensitive, but there is a third option here you may want to think about, especially if all the other kids in the family are unaffected. I'm not trying cast aspersions on your sister-in-law here, but false paternity is a lot more common in the general population than is generally realized.
posted by Asparagirl at 6:11 PM on February 10, 2010

Let us prevent the derail by interpreting that portion as "This means that either my brother or his wife are a carrier (barring any unusual paternity issues.)"
posted by davejay at 7:01 PM on February 10, 2010

Best answer: It may be a state requirement; newborns undergo genetic testing for a range of diseases as part of public health initiatives, and many/most states require counseling be provided when something turns up.
posted by catlet at 9:33 AM on February 11, 2010

Best answer: My mother spoke to a genetic counselor before my sister and I were conceived about an obscure genetic load anemia that she inexplicably has the trait for. I have always been grateful that she did; the most accurate and concise explanation of the trait I have ever to this day received came from him through her. I suggest that your brother keep his ears open during the consultation.
posted by workerant at 10:15 AM on February 11, 2010

Response by poster: Maybe the term "counseling" it's what's throwing you (and your brother). In my experience, it was really just a conversation where someone laid out the science of the disorder for me in as much detail as I was interested in (and I was interested in a lot!), and I could ask all the questions I wanted.

Yes, that's probably what is throwing us. When I think of genetic counseling, I think of someone helping the a patient and/or their family deal with actually having/developing a disease, or family planning when a couple both carry. I never thought of it in light of just explaining the science. Our thoughts echo Salamandrous: hello, I'm an intelligent adult, just do the test and tell me the results.

Thanks, everyone, for the answers about why genetic counseling might be required and what he should expect when he goes. It was helpful to hear your personal experiences. I now think that, yes, it is probably to help him and his wife understand the science and how to explain the implications to their kids and the extended family.
posted by Knowyournuts at 10:56 AM on February 11, 2010