Parents Opt Newborns out of Newborn Screening

We all know that galactosemia is a genetic disease. Hence. until symptoms of the disease become apparent in a newborn, there is no way to suspect the disease in a newborn unless he undergoes newborn screening. The screening process is simple. Blood will be taken from the baby's heel and sent to the lab for analysis. If the test exhibits abnormal amounts of galactose, the baby will be suspected to have galactosemia. From there, further confirmatory tests will be performed and proper diagnosis will be carried out.

In the United States and Canada, newborn screening is mandatory. However, some parents can have their child opt out of the screening in writing if they desire. In fact, a mother had even gone so far so to hand of politically charged propaganda in airports, advising parents against newborn screening. But why are there such strong oppositions against the screening? Below is an extract from a discussion board on newborn screening. 

There are several reasons why I would rather opt out:

 1) The federal government lacks both the constitutional authority and the competence to develop a newborn screening program adequate for a nation as large and diverse as the Untied States. The bill which sets this screening into law (S. 1858) violates the Constitution, and may have untended consequences that will weaken the American health care system and further erode medical privacy. (i.e. you can read into what happened in Texas and how a DNA bank had been kept with blood samples of newborns without the parents consent or knowledge) .

2) Screening is a public health initiative that surveys an entire population (or sub-population) for evidence of an illness before it exhibits symptoms. The purpose of screening is to identify those among the apparently well who are suffering from (or who will likely develop) a disease and who are likely to benefit from early detection and intervention, because the screening is applied to the sick and the healthy alike, the screening should minimize the amount of false positives (which it does not). As a result, for many of the conditions that most states screen for, a large majority of the initially positive screening results will turn out to be incorrect. (This happened to us with DS and it lead to nothing but sadness and worrisomeness during  the first months of his life, which turned out to be false)

3) Newborn profiling carries risks IMO. Gathering genetic information pre-symptomatically could possibly detect genetic variations in the genome which may suggest an elevated risk for a condition that never actually develops, and to initiate treatment pre-symptomatically may do the baby more harm than good.

4) There is also the danger that screening will lead to a cascade effect, in which genetic risk information of perhaps uncertain validity leads to additional tests and interventions, causing anxiety, extra costs, and even some risk of medical harm, more so if further testing reveals that the original positive result was in fact a mistake.

I can probably go on and on about why I am considering to opt out, if you are interested in pursuing your own research, you may be able to find evidence that proves the contrary or evidence that supports my findings. As with everything else, it all boils down to inform consent.

With that said, has anyone else consider these facts and how did you go about saying NO to the screening??

Some allegations made in the argument above are true to some extent. Based on statistics from a research article in Pediatrics, the rate of false positives during newborn screening is 818 in every 49 959 newborns (0.02%). However, further tests can be conducted to enhance the accuracy of the diagnosis. 

Personally, I feel that despite these allegations, newborn screening is still important. Galactosemia, when untreated, has a 75% mortality rate. Having a false positive result can be irritating and worrisome, but at the end of the day I feel that it is better to be save than to be sorry.