Importance of newborn heel pr*ck test and is it ever refused?

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Something to keep in mind, some states also use it as a way to store DNA (unathorised too I might add) so if you want your child's DNA destroyed you have to specifically ask for it to be done. Just a bit of FYI.

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Parents are supposed to be given info before the birth (in Victoria it is a brochure) and given opportunity to discuss it. This brochure also details the fact that the card will be stored. Parents have the right to refuse the test and verbal consent is supposed to be attained before the heel pr!ck is taken. In practise, i don't think this always happens but if procedures are followed correctly, the parents are authorising the taking of the sample , the testing of the blood and the storage of the card.

What do you mean by storing DNA?

Each State retains the card containing the blood spots for a certain period of time. Victoria is indefinately (i am pretty sure) but some of the other States have a time limit.

Following testing, the cards with the blood are stored in a long term facility. Yes, the blood on the card contains DNA. Yes, the cards are stored.

But, it's not like the DNA has been sequenced and is in a databank where anyone can tell anything about it or access it willy nilly.

Blood on a card still has to have things done to it to obtain the DNA, and then test it for whichever gene or marker you are looking at.

Limited access to the cards is available for research, where the researchers have to fill out big ethics applications and it has to go to a human research ethics committee to allow access to the cards.

As part of some research that i did, we accessed blood cards from consecutive newborn samples from 10 years earlier. The researchers do not get any identifying info from the cards. A punch hole from each card was placed in a tube (by the people in charge of the cards) and the researchers were given the bag of tubes with the card circles in them. I was not apart of the ethics submission, but i heard that it was intensive. Researchers never get identifying info, and any results from the research can not be traced back to any one person.

I would not want some to check the breast cancer genes or alzheimer genes from my card and tell me I was at increased risk (without me seeking the info for myself), but i am quite comfortable with the idea of my anonymous card being used to further medical research that might help others in the future.

What is it about having your (or your child's) DNA stored that concerns you (if it does)?

wow Kate! I haven't ever been bothered with it but that i's so interesting

Kate, thanks so much for all that info. Has helped put my mind at ease somewhat!

I didn't like the idea that it is a potential to become like something out of the movie Gattaca (sp?) - where everyone's DNA is stored and you can access it willy nilly.

I know right now, in 2009, this is not going to happen - but who knows about the future?

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The test checks for genetic disorders such as and including cystic fibrosis, that's just about all I remember of it. It didn't bother DD at all.

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Yes it does and if your child has CF, you really want to know as early as possible. With CF the child will waste away as they do not have the enzymes to digest what they are eating and therefore do not absorb the nutrients. I used to care for a child with CF.

i got the paperwork on this at booking appt last week - basically, they test for several disorders and "diagnose" around 54 cases (on average) each year in Victoria - this is from approx 62000 babies born

the main tested disorders are:
Phenylketonuria (~5 per year)
Congenital Hypothyroidism (~20 per year)
Cystic Fibroses (~20 per year)
Other rare metabolic disorders (~9 per year)

according to the handout we received, the sample cards are kept on file indefinitely, but identifying information is only used with the prior permission of the parents - so like Kate mentioned, there may be random samples used for testing for research, but if any identifying information is to be used, the parents have to agree to it....

WARNING - THIS MAY BE SCARY FOR SOME.

The newborn screening card can also be used to identify your child (by their DNA) should anything untoward happen to them. It may be the only source of DNA for your child if nothing else is available, especially if the child is very little or there is a significant time period between the child disappearing and the discovery of their body.

Jaidyn Leskie's body was identified using this method (DNA sequencing from newborn screening card).

In a way, keeping the card indefinitely may actually help some people, in the most difficult of situations.

I don't mean to scare anybody, but I personally think it's a good thing.

Thanks Kate, briggsy's girl and Divvy - that pretty much clears everything up, nice and simply put as well!