Advice about Genetic Testing

Parent Q&A

  • Hi fellow parents,

    My elder daughter who is now 4.5 yrs old has always been off the charts for both her height and weight. She is a happy and healthy kid with no other medical conditions. We as parents have realized the fact that she is a tall kid, my husband is 6'1 and I am 5'6. Her fast growth has slowed down in last year and would eventually hit a plateau. We all stop growing at some point, right? We try to keep her active in different physical activities to keep her weight under control. Her pediatrician at PAMF is concerned about her abnormal growth and we did several hormonal and growth factor tests to rule out any hormonal abnormalities. After these tests came out fine, the endocrinologist at Stanford referred us to genetic counselor. I was not in favor of visiting the genetic counselor as I feel the medical team is trying to push us into deep digging with further tests on the basis on that something somewhere has to be wrong with my daughter. We did go through genetic counseling but did not get any extra information or reason on why my daughter needs it. The MD and counselor did a lot of probing o her developmental milestones and behavior which is not lacking in any way. My prenatal genetic screening was also normal. But, still these doctors want us to go through gene panel testing to identify if she is at risk of developing certain life threatening conditions later in her life. I want to know if other parents have been through similar experience and share their thoughts? 

    I don’t have the personal experience, but just want to suggest that you go ahead and have the testing. I don’t think it could hurt, and there is some chance it could help. The prenatal genetic screening only looks at a very small number of conditions, so I wouldn’t use that as a factor in your decision. It sounds like 2 doctors have agreed; why not seek a 3rd opinion?  It sounds like two careful (?) medical professionals have agreed it’s a good idea. Again, I think the chances it will help are far greater than the chances that some harm would come by doing the testing.  If they find something, you’ll know what (if anything) to do; if they find nothing, it sounds like you’re going to have great peace of mind. Wishing you the best. 

    This is so hard, and there is no right answer. It's so scary to have professionals wondering whether there is something "wrong" with your child and you absolutely don't wan't to ignore something if paying attention to it now will prevent difficulties later. BUT, it sounds like you are pretty sure your child is okay and being told to worry that she is not. We tend to mistrust our instincts with our kids since there are so many people who are actual experts, but I urge you to put your own understanding of your child on a level playing field with the health professionals saying you should do additional testing and diagnosis. You are asking all the right questions -- what is the benefit of going down this diagnostic path vs risk of not. It's really just the beginning of many similar decisions in parenting, and all you can do is be thoughtful and clear with yourself and your partner about how you are making these decisions so that no matter what happens (she's fine vs turns out she has some intervenable condition) you don't have any regret about not being thoughtful enough! Good luck to you.

    These doctors are experts with years of training and experience with countless children, and they believe there might be something unusual about your daughter’s genes. I don’t understand your resistance to having that information. It is entirely possible that her unusual size is going to increase as she approaches puberty. You have no basis to assume it’s going to normalize. My kids are also off the charts on height and weight, but my husband and I are both extremely tall. If we weren’t, I would be concerned.

Archived Q&A and Reviews


Family history of cancer - should I do genetic testing?

Nov 2007

This is my story. My mother died at the age of 54 in 1982 from Lymphoma when I was 12. My older sister who was 26 at the time was diagnosed with breast cancer and died at age 34 in 1990. My doctor has suggested genetic counseling/testing for the breast cancer gene. I've contacted my sister's oncologist to get medical records. Unfortunately, they do not have records for her anymore. Does anyone out there have personal experience with genetic testing? Berkeley mom


I underwent genetic testing for a very serious disease for which I am a carrier. If you decide to try to do any testing, please have thought out for yourself what the results will mean to you. Would you abort a fetus based on this information? Would you share your decisions with others? In my case, no one except my husband knew I was pregnant (including my mom) until I was 5 months pregnant. Some of our closest friends and family were offended by that, but I saw it as a very private decision to make. Also, be prepared for some of the medical field to try to impact your decisions. I had doctor's telling me it would be wrong to abort a fetus with this disability. In the end, I was lucky, and our child is 11 and healthy. We did adopt a brother for him, because now that I actually have a child, it would be much tougher to abort. Good luck in finding out what this testing can do for you. We were with Kaiser, and their geneticists were very good. Been there


I'd do it in a heartbeat. Why not? But there's something else that might be even better. check out www.23andme.com You can now do DNA testing of yourself. It's $999. Might be cheaper (and you might find more) than just genetic testing, plus YOU own the results. geek


First, I'm sorry you suffered these losses. I had genetic testing (for the BRCA mutation) because my mother had both ovarian and breast cancer. It was an easy decision for me - I'm just someone who wants as much information as I can get. On the other hand, my sister and a friend whose mother died of breast cancer in her early 40s don't want to be tested. It's very individual. I don't think I'm right and they're wrong. I found out that I have the mutation. I had to make some hard decisions about how to deal with my increased risk for breast & ovarian cancer, but I'm glad I had the test.

I recommend that you find a professional who can give you the guidance and the information you need to help make a decision, and who can provide the necessary support and resources to deal with the results of any testing. UCSF has an excellent genetic counseling department (in their cancer center on Divisadero - 415-885-7790.)If your results are positive, they can refer you to the excellent doctors in the same building (for surveillance or other options). They will want to know as much as you can find out about any history of cancer in your family (aunts, grandparents, etc.) You can also find some helpful information at www.facingourrisk.org. Best of luck. Leslie


Hi, I don't know if this is what you were asking for, but the New York Times recently ran a series of articles called ''The DNA Age: Changing the Odds.'' The NYT description is: ''Articles in this series explore the impact of new genetic technology on American life.'' One of the articles was about breast cancer and the implications of testing. This is the link: http://www.nytimes.com/2007/09/16/health/16gene.html?pagewanted=1 Good luck to you


I had genetic testing in 2004 after my mom had her third cancer. My advice is to do it through the program at either Stanford or UCSF. (Here's a link to UCSF: http://cancer.ucsf.edu/research/cancer-risk.php) Both have strong genetic counseling components to help you understand the test ahead of time and understand the results afterwards. Unfortunately, my doctor just sent me off for testing without any real counseling and I had my first genetic counseling visit 3 months after getting my results. Doing it ''backwards'' has not been a good thing for me.bb

The ''before'' counseling can help determine whether or not you're a candidate for testing in the first place (even though your doctor already thinks you are) even without your sister's medical records. Beth Crawford was the counselor I saw at UCSF.bb

If it turns out that you test positive, you will be counseled about your particular circumstances but it will probably involve recommended surgery and frequent screening until then. (Not sure about how frequent the screening is after surgery since I haven't done that part.)bb

Based on my family history, I always figured gynecological cancers were a big risk. It's another story for me to have it confirmed. Good luck! Tested


My husband's family had several instances of cancer, including breast on both sides of the family, so we had my husband tested for BRCA1 and BRCA2 when we were trying to conceive. His family is Ashkenazic Jewish which has a higher carrier rate of these two genes than the general population. He tested negative for these two, which doesn't mean he's not a carrier for another cancer gene that is not yet being tested. We found the consultation with an MD/PhD cancer geneticist before the testing to be invaluable. Another relative was tested for a different panel of genetic diseases and tested positive for the carrier state of one disease, and that was useful as well. Tested


I would recommend in favor of genetic testing. A counselor will explain everything to you and make sure you have a plan to handle the test results. I would bet that you do not have the breast-cancer gene, and the test will give you a great feeling of relief (as happened to me). If you did happen to have the gene, it would be better to know about it so that you can be on a more-frequent mammogram/ultrasound schedule. Curious to Plan Ahead


Dear Berkeley Mom -- I'm sorry to hear about your family history. Genetic testing, and even the prospect of carrying a genetic mutation that can result in a life threatening illness, can be difficult to navigate. Luckily, some of the premier programs and physicians are here in the Bay Area. The UCSF Cancer Risk program offers comprehensive assessment/counseling/etc., as well as testing for the two primary known breast cancer genes (BRCA1 and BRCA2). They also provide ongoing treatment, if needed. While medical records/history are helpful, they're certainly not mandatory. Many patients aren't able to access records from either aged or deceased family members.

On the emotional front, there is a terrific support network for both cancer survivors that carry a genetic mutation and ''pre- vivors'' (the term for those with a genetic mutation that have not yet been diagnosed with cancer). The organization is called ''FORCE'' or Facing Our Risk of Cancer Empowered. There is a wealth of information, and a warm and nurturing community (primarily women) online. The message boards are extraordinarily helpful in gaining an understanding of the issue -- whether you opt to test or not. The URL: www.facingourrisk.org

Best of luck to you during this difficult time. --A survivor