How to give medical/genetic news to family?
May 31, 2010 4:46 PM Subscribe
I found out information through a genetic screen that could impact my dad's heart treatment. How do I clue him in?
I got genetic screening done recently through 23andme and learned that I have a double helping of a gene that makes it so the blood thinner Plavix won't work well for me. Since I've got two copies of the gene, my parents each have at least one copy, which means Plavix won't work well for them, either. My dad had his first heart attack decades ago and is under a cardiologist's care. I'm not sure which medications he takes.
Dad doesn't know I had the genetic screening done and most likely will not approve. Because of his health conditions and the impact that this information could have on his care, I feel that I am responsible for letting him know. My husband suggested calling my Dad's cardiologist and giving the doctor the information, but I'm not sure that would work. After all, the doctor would have to explain where he got the word, right? Also, I probably ought to tell my mom, since she's got at least one copy of the gene; it's not as urgent since she doesn't have heart problems yet.
I'd just call or meet up with them and break the news, but we're not particularly close and don't see each other very often. Tomorrow's one of the rare times we're going to see each other in person - we're planning on going out for an early dinner. What's the best way to get the news across?
I got genetic screening done recently through 23andme and learned that I have a double helping of a gene that makes it so the blood thinner Plavix won't work well for me. Since I've got two copies of the gene, my parents each have at least one copy, which means Plavix won't work well for them, either. My dad had his first heart attack decades ago and is under a cardiologist's care. I'm not sure which medications he takes.
Dad doesn't know I had the genetic screening done and most likely will not approve. Because of his health conditions and the impact that this information could have on his care, I feel that I am responsible for letting him know. My husband suggested calling my Dad's cardiologist and giving the doctor the information, but I'm not sure that would work. After all, the doctor would have to explain where he got the word, right? Also, I probably ought to tell my mom, since she's got at least one copy of the gene; it's not as urgent since she doesn't have heart problems yet.
I'd just call or meet up with them and break the news, but we're not particularly close and don't see each other very often. Tomorrow's one of the rare times we're going to see each other in person - we're planning on going out for an early dinner. What's the best way to get the news across?
Does your concern for your dad's health outweigh the potential fallout from his disapproval? If you aren't particularly close to your parents, would his disapproval of genetic testing have a big enough impact on your life to warrant not saying anything?
I'd just lay out the facts to him. "I found out that I've got a gene that means that Plavix won't work well for me. In case that affects your treatment, I thought I'd let you know." You don't have to get into more detail than that if you don't want to.
posted by corey flood at 4:53 PM on May 31, 2010 [3 favorites]
I'd just lay out the facts to him. "I found out that I've got a gene that means that Plavix won't work well for me. In case that affects your treatment, I thought I'd let you know." You don't have to get into more detail than that if you don't want to.
posted by corey flood at 4:53 PM on May 31, 2010 [3 favorites]
I'm wondering why he wouldn't approve, but that's really not the point. It doesn't really matter how you got the info, really, if it were me I'd just say that you'd found out something interesting from a recent checkup - that apparently they can tell from the results of a blood test that the blood thinner Plavix won't work for you, and and that the tendency is inherited. I think you could probably get the information across without getting all specific on how you found out.
posted by lemniskate at 4:59 PM on May 31, 2010
posted by lemniskate at 4:59 PM on May 31, 2010
I suggest you say something along the lines of:
"I had a genetic screening and it revealed that I inherited a gene from you which renders certain medications less effective. The gene is XXXXX. You should probably ask your cardiologist about it in case it has implications for your treatment."
posted by Justinian at 5:16 PM on May 31, 2010
"I had a genetic screening and it revealed that I inherited a gene from you which renders certain medications less effective. The gene is XXXXX. You should probably ask your cardiologist about it in case it has implications for your treatment."
posted by Justinian at 5:16 PM on May 31, 2010
I've got two copies of the gene, my parents each have at least one copy
I don't mean to derail but assuming this is a SNP isn't it possible that one parent has two copies (and you got them both from them) and the other has none?
posted by Rhomboid at 5:24 PM on May 31, 2010
I don't mean to derail but assuming this is a SNP isn't it possible that one parent has two copies (and you got them both from them) and the other has none?
posted by Rhomboid at 5:24 PM on May 31, 2010
This is something the FDA's already looking into, and updating the packaging information on Plavix accordingly. You could bring this up with your family in a generic sort of way off this kind of news report.
posted by fairytale of los angeles at 6:00 PM on May 31, 2010
posted by fairytale of los angeles at 6:00 PM on May 31, 2010
If the genetic test you took determined that you have a variant of the CYP2C9 gene that is active in the metabolization of 100 or so different pharmaceutical products, don't worry too much.
I work in a molecular pathology laboratory that offered that test. We did not have a lot of doctors taking advantage of this in house test. After a year of low test volume we dropped the test when we found out what the standard of care is.
1. A patient is started on a standard dose of blood thinner (warfarin, plavix, etc.)
2. The amount of medication in the blood is measured at predetermined intervals
3. The amount of blood thinner is adjusted (and it can take a while) until a good level is reached
It is a bit easier if you can tell your doctor that you are a high metabolizer (you use the enzyme faster, so you need a higher dose, so it looks like the medication is not working well), but the doctors will arrive at the right dosage in a timely fashion.
Keep in mind that I'm a lab rat, not a doctor and especially not your geneticist. I really urge you to consult a genetic counselor, to properly understand and use the DNA test results you received. By the way, there are nine different variants of the gene.
posted by francesca too at 6:02 PM on May 31, 2010 [1 favorite]
I work in a molecular pathology laboratory that offered that test. We did not have a lot of doctors taking advantage of this in house test. After a year of low test volume we dropped the test when we found out what the standard of care is.
1. A patient is started on a standard dose of blood thinner (warfarin, plavix, etc.)
2. The amount of medication in the blood is measured at predetermined intervals
3. The amount of blood thinner is adjusted (and it can take a while) until a good level is reached
It is a bit easier if you can tell your doctor that you are a high metabolizer (you use the enzyme faster, so you need a higher dose, so it looks like the medication is not working well), but the doctors will arrive at the right dosage in a timely fashion.
Keep in mind that I'm a lab rat, not a doctor and especially not your geneticist. I really urge you to consult a genetic counselor, to properly understand and use the DNA test results you received. By the way, there are nine different variants of the gene.
posted by francesca too at 6:02 PM on May 31, 2010 [1 favorite]
Assuming this is a SNP isn't it possible that one parent has two copies (and you got them both from them) and the other has none?
No. In almost all cases, you have exactly two copies of each gene. One is maternal, the other is paternal.
There are strange edge cases involving things like duplication events or mutations that occur shortly after fertilization of the egg, but these are rare. If your test shows that you have two copies of the mutation, you can be reasonably certain that each parent is at least a carrier.
posted by chrisamiller at 6:56 PM on May 31, 2010 [2 favorites]
No. In almost all cases, you have exactly two copies of each gene. One is maternal, the other is paternal.
There are strange edge cases involving things like duplication events or mutations that occur shortly after fertilization of the egg, but these are rare. If your test shows that you have two copies of the mutation, you can be reasonably certain that each parent is at least a carrier.
posted by chrisamiller at 6:56 PM on May 31, 2010 [2 favorites]
Is there a reason that you need to tell your dad you found out through genetic testing? As a few people have alluded to above, you could just say that you found out from your doctor that you respond differently to some medications, and that it's an inherited tendency.
posted by heyforfour at 7:15 AM on June 1, 2010
posted by heyforfour at 7:15 AM on June 1, 2010
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An easy way to avoid explaining why you had the screening done could be to invent a small white lie: you had a routine check-up, the doctor found something unusual and had some tests done, and discovered that you have this particular gene. The doctor then recommended that you let your parents know as it may affect them as well.
posted by twirlypen at 4:52 PM on May 31, 2010 [6 favorites]