Ever had genetic testing done?

[SandrA9810]

For any kind of heriditary issue. Was it worth the cost and how much benefit was it to you?

 

[NaLisa]

I've not but my daughter has. Her pediatrician believes she has a hereditary condition that can range anywhere from very mild to potentially life threatening. There's no test for this condition, so she sees the geneticist every three years so they can ascertain any changes in her condition. She also sees several other specialists, all of whom did a baseline and then look for changes at regular intervals.

So far, everything's been perfectly normal, and she's very healthy with just a couple of limits on activities. As she approaches adolescence, though, there are often problems associated with the growth spurts and increase in hormones. So I'm glad she's seeing the genetics team regularly and being monitored.

 

[AntePrincess]

For any kind of heriditary issue. Was it worth the cost and how much benefit was it to you?

I have. It's becoming quite common to send pregnant women to genetic counseling as part of prenatal care and it seems like my counselors hand out genetic tests like aspirin (they wanted to test my husband and I for whether we carry Tay-Sachs, on the basis that my husband is Italian so he might have some hidden Jewish ancestors, and I have some French-Canadian ancestors).

The tests can be pricey and since there isn't necessarily something that can be done right now about the results, I'm on the fence about whether it was worth it. It depends on the severity of the condition. I will say that you can often shop around for cheaper genetic tests, which I wasn't told until recently, some as cheap as $99.

Here's what my current genetic counselor suggested regarding some conditions: have your oldest relative that possibly carries the condition tested if you can. Then you can rule out whole branches of the family as possible carriers. It might not be more cost effective for you, but if your family is close and willing to work on this together, it can save a fortune. We're doing that now with a condition that is carried on only a handful of genes. My grandmother is a confirmed carrier of the condition, so she's getting the gene test which will identify which gene it's carried on, then the rest of us starting with her siblings and children will take a much cheaper gene test that looks at that one gene which is in the family, and work our way down from the carriers.

 

[Conservative Hippie]

Nope, refused them in both pregnancies. Radiologist recommended I get DS tested for Down's at his 24 week ultrasound due to an abnormality on his heart, but I did not. I had another u/s at 32 weeks and the abnormality was gone.

 

[StitchesGr8Fan]

My brother has for his disorder, butbitvwas when genetic testing was in its primitive stages. DH and I went to a genetic counselor before getting pregnant, but were told that my brother's condition is genetic less than 1% of the time, and if it was genetic I would have it too. Because of the low risk we declined testing.

 

[benji2012]

My mother, a two time breast cancer survivor, recently had the BRCA test done. She has very low income; so I don't think her out of pocket was much.

Her test was negative. Both my doctor and my sister's doctor suggested this course rather than the two of us being tested.

 

[minkydog]

No, but two ofy kids have. DD20 was tested when she had some serious anemia. DH is Greek and there are a few types of anemia found in peopl of Mediterranean descent. She was negative, thankfully. Christian was tested (and tested and tested, over 200 tests) because he is so very developmentally delayed and he looks "syndromey". The last test revealed an extremely rare chromosome disorder which is not congenital. So, my other kids are off the hook for that, at least.

 

[Reddy]

I had the whole family done but it was for research group in Canada - checking on Autism
I didn't get a bill or results - just hope it helps, I don't wish autism on anyone (really don't want 2 kids with it which was required to be apart of the test subjects)

 

[EMom]

Yes, when we were trying to have a baby. I had IVF several times, had great looking eggs, stellar embyos, and got pregnant every single time. Yet I miscarried every time, for no apparent reason. They did genetic testing to see if there could be a reason for the m/c. They even tested to see if DH and I were too genetically similar.

We got no answers. Still a mystery. All genetic tests were fine.

 

[A_Princess'_Daddy]

Oh baby, have we had testing!

When my DW was pregnant with our son (now 5), they identified several abnormalities on the ultrasound and did an amniocentesis. That test revealed a chromosomal abnormality that had never before been seen in medical science (and was thought to not be medically possible). Several additional tests were done on his fetal DNA to confirm the array and to bring the specific genes and breakpoints into sharper focus.

This led to my DW and me being tested, which identified that I am the carrier of this genetic condition, which doesn't effect me based on how I carry it, but gives me a roughly 25% chance of a repeat if we were to get pregnant again (as well as roughly 25% chances of having the opposite shuffling, inheriting the balanced version or being genetically normal), so we stopped with two children (our older daughter, 3 at the time, appears genetically normal).

We were told that our son wouldn't survive to term and that if he survived, he'd be a vegetable. Abortion was encouraged by all the doctors, but was not an option that my wife and I were willing to consider and so we found new doctors who worked with us to ensure he had the best possible outcomes. He was carried to term and, despite some initial challenges is now a very healthy 5 year old boy. He does have some delays (apraxia of speech and some fine and gross motor delays) but he is the love of our lives and is heading off to kindergarten next fall.

There are approximately 250 geneticists around the world who have requested copies of his DNA makeup to study him, since as I mentioned, his condition had never been seen before and as a result offered an insight into hundreds of new genes and their roles in life. Most we never encounter in real life (they study his DNA in correlation to his medical charts, to which they have been granted access), although several do have him in active studies. To us, he's just our loving son, but if he can help others, we're willing to let his DNA do that (as long as they aren't poking him with new holes or hurting him).

Our DD8 will one day likely want to be tested to see if she carries the balanced version of the condition (like I do), as that may impact her decision on how to have children, but given that she appears healthy, we see no need to subject her to the test now and possibly brand her psyche at the age of 8. She is aware of what her brother has, however, and it is one of the drivers in her passion for science.

So yes, we've had a lot of testing!

ETA, as to the cost, it was multiple tens of thousands of dollars, but we are blessed to have incredible insurance so I think the cost to us was $60 ($20 copay for each of the three of us).

 

[SandrA9810]

My mom wound up in the hospital again, they ran an MRI and said she's been having mini strokes (which make her delusional and she goes on these fits of rage). She's also prone to seziures, and has early stages of dementia. Many of these things are present in my grandmother. However, dementia didn't really start affecting her till around 80 (she'll be 87 next friday), she has had TIAs, but not significant long term issues. Overall, she's pretty healthy for her age, and is at the doctors regularly.

My mother is worlds away concerning her health. She's only 66, suffered two strokes, has heart issues, and many other issues. She also has never taken care of herself, very poor diet and exercise.

I'm really concerned about my risks to these issues. I'm sure I'm a carrier for fragile X like my sister, and my brother has syndrome G, but I don't know if its genetic or not. I don't know the extent of his genetic testing as no one has shared that information with me.

 

[Nolcrest]

Yes I had testing done. Luckily my insurance covered it & I only needed to pay for co-pay. I chose to have the test for it would have made a difference in my course of treatment. Plus, it was also a benefit to my siblings & children to know the results for their future.

 

[NYEmomma]

I haven't -- wasn't recommended in either of my pregnancies either. Though I have a friend that did. Her mom wad adopted, so she wanted some kind of idea of her genetic make-up for health reasons. She had twins a few weeks before mine were born and even though they were di/di, they looked identical, so she had them tested and turns out, they ARE id! My twins are di/di too but look absolutely nothing alike so I didn't waste the money, lol.

 

[happily single]

My ex-husband and I were tested for ray-Sachs as I am Jewish and he was French. That was 14 years ago and I don't recall anything more than maybe a normal co-pay.

When my son was about 7 he was tested for Fragile x and maybe a few other conditions. At the time he received social security and I do not recall any co-pay

 

[MinnieLovesMickey12]

I recently had blood sent off to test me for the BRCA1 and BRCA2 breast cancer genes. I haven't gotten any results yet and I am not sure how much it is going to cost me. I have insurance and have met my deductible for this year but from what I have heard that one test can cost $3,000. SO I may end up having to pay 20% of that.

 

[bushdianee]

I was diagnosed with ovarian cancer at the age of 21 almost 34 years ago. I have 3 sisters. One of them was also diagnosed with ovarian cancer 7 years ago today at the age of 43. Both of us only had to have surgery no chem or radiation luckily. A third sister was having some changes to her ovaries so her doctor asked for genetic testing for the BRAC I & II mutations. We both tested negative for the only known gene at the time so we dropped it. The test was expensive and my out of pocket was several hundred dollars as I had to pay 20%. The third sister was advised to have her 2nd baby ASAP which she did and then had a hysterectomy a few months after giving birth as there had been significant changes in her ovaries. It was recommended that the 4th sister and nieces be monitored closely.

 

[LuLuO]

I have had genetic testing done for Celiac Disease as have my children. My daughter is having a genetic test done next month for a different condition based on family health history. If she has the gene then given my symptoms I probably do too but will get it confirmed because we will have to be monitored throughout our lives.

 

[chiefmickeymouse]

I've not but my daughter has. Her pediatrician believes she has a hereditary condition that can range anywhere from very mild to potentially life threatening. There's no test for this condition, so she sees the geneticist every three years so they can ascertain any changes in her condition. She also sees several other specialists, all of whom did a baseline and then look for changes at regular intervals.

So far, everything's been perfectly normal, and she's very healthy with just a couple of limits on activities. As she approaches adolescence, though, there are often problems associated with the growth spurts and increase in hormones. So I'm glad she's seeing the genetics team regularly and being monitored.

I'm just curious, is it a Marfan type thing they are looking for? My DS16 has very recently been diagnosed and we are trying to determine what this means for us.

 

[DonaldnDaisy5]

Yes, when we were trying to have a baby. I had IVF several times, had great looking eggs, stellar embyos, and got pregnant every single time. Yet I miscarried every time, for no apparent reason. They did genetic testing to see if there could be a reason for the m/c. They even tested to see if DH and I were too genetically similar.

We got no answers. Still a mystery. All genetic tests were fine.

Not genetic testing related necessarily....but did they check for clotting disorders? If not have them do that. I had 3 miscarriages and it was determined I had clotting disorders, put me in blood thinners (lovenox injections), got pregnant again and carried full term (plus 11 days ! ).

Since our experience, I've heard from many others with same issue. PM me and I'll let you know which disorders I have if it helps. My friends hematologist jokes about his wall of "lovenox" babies...n

 

[dawnball]

My husband (who's Jewish) was tested for the Tay Sachs gene before I got pregnant. When I asked the doctor for the test, she said to me "Why? Is he showing symptoms?" "You don't know what Tay Sachs is, do you?" I trust she felt suitable abashed when she thought about it later.

I'm currently considering having genetic testing done, but I'm not there yet. My interest is in the gene for the CYP450 enzymes. I have drug reactions that indicate I may have the genes for an underactive CYP450 (Note that this is a gross simplification, because it's a polymorphic issue). The only drug that has (so far) effectively managed my neurogenic pain also causes me intolerable side effects that may be allergic, or may be related to my body's processing of the drug causing excessive blood levels.

We're trying a few other medications, but my choice may be ineffective medication or medication I may be allergic to. If I -know- I have a genetic risk, I'd gamble against the allergy long enough to get a stable blood level and test for serum concentration. Without evidence, neither my doctor nor I are inclined to put my life at risk for a little more comfort.

Testing for the CYP450 genes is currently either the best thing to come to medicine, or the worst information to put in the hands of patients, depending on your point of view.