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Hell Yes I’d Want to Know If My Baby Will Have a Disease!

Photograph by Twenty20

Because DNA testing s a touchy subject, I’m going to say in advance that I don’t know if I would have done anything different had a new extensive DNA test revealed birth defects in either of my children. Actually, I do know whether or not I would have done something differently if a DNA test had revealed potential genetic birth defects in my children as newborns, but I’m going to keep that to myself. Because what I would, or wouldn’t, have done with that information is not relevant. And let’s face it, talk of genetic and testing for birth defects always cloud a conversation.

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While what I would do isn’t relevant, what is important to know is that a new DNA study called The Baby Seq Project is testing newborns for more than 1,600 hereditary diseases that can affect children to better understand the risks and benefits of genomic sequencing at birth. The information doesn’t tell parents if their child has a certain disease or syndrome but does inform parents if their children are at high risk for certain diseases or issues (although they will not disclose any adult-onset diseases they might find). For example, one might be able to find out if his or her child is at high risk for an inherited childhood cancer or is a carrier for diseases that affect how you process cholesterol.

To me, any information for parents is good information.

As you can imagine, these new tests have caused quite a controversy. On the pro side, scientists and advocates for the extensive genome research at birth suggest parents will be able to intervene early should their child end up with one of the diseases revealed by the testing. On the con side, scientists are concerned about the high cost of the testing and the revelation of information that can apply to siblings or future siblings in a family.

Doctors are also concerned what parents will do with information gained through the testing. Parents might find out their child is at high risk for something with no treatment, leaving parents to worry about the what ifs without any support or remedy. And let’s face it we parents aren’t doctors. We don’t always know what to do with information gained in a test. The tests don’t tell parents if their child will get something. The tests just reveal risk factors and genetic sequencing, leaving parents potentially anguishing over information they don’t know what to do with. Other doctors fear a parent might raise his or her child differently knowing that child is at high risk for a disease.

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Despite all the controversy, had the testing been available when my kids were born I would have absolutely signed up. It’s up to me as a parent to use the information gained in the test wisely and to consult experts as to what the test results do mean. But to me, any information for parents is good information. If I could intervene early or save my child some future distress, it’s worth the cost and the potential stress the test results give to me.

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