28 January 2021
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An article by Canadian researchers in the journal “Science Translational Medicine” raised the entire issue of screening the genome of newborn infants.

Screening the genome of newborn infants: right or wrong?

Dr Ross Walker
20 May 2014

by Ross Walker

An article by Canadian researchers in the journal “Science Translational Medicine” raised the entire issue of screening the genome of newborn infants.

The authors state that with the falling cost and increased reliability of whole genome screening, that the issue of screening newborns should be addressed.  One molecule of DNA – the human genome, is three billion base pairs, which are genetic letters in various orders.  We are all 98% identical, 1% different from a chimpanzee.  But 2% of three billion is still an enormous difference.  Thus, patterns of diseases, including future prediction for disease, can be determined from whole genome screening.  But, should this be done in newborns and should it be done on anyone? 

The researchers, rightly so, point out that whole genome screening in anyone raises ethical, legal and social issues that need to be weighed carefully and in many cases, the information may do more harm than good. 

The following points about whole genome screening need to be considered.

It generates large amounts of information – possibly too much.  With this type of screening, there will be incidental findings, paternal information, information about reproductive risks and also adult diseases.  Can you imagine being given your bouncing baby only to find out potential serious health issues in adulthood or disturbing paternity information, potential diseases that you may be suffering or could have passed on or even possibly that your partner is not the father of your child. 

Validating genetic variance i.e. how much would this information impact on the health and wellbeing of the individual, i.e. just because they have the gene, does not mean they will end up with the disease. 

The best way to ensure the infant receives appropriate treatment and follow-up, once the information is determined that these genetic abnormalities are present. 

How the data is stored and who “owns the data”.

How whole genome screening results are communicated to the family and patients over time.  Should adult disease information be withheld and given at the appropriate time and, in reality, what right do researchers have to withhold such information from the family?

The insurability and employability.  For example, if health insurance companies have this information, would they be reluctant to insure if there are significant gene issues?  If an employee had access to the information (heaven forbid) and there were two equal candidates for a job, who would be employed?

I have real problems with whole genome screening and feel this needs to be carefully considered before it becomes a routine in anyone.

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