Friday, December 8, 2023

Rare Diseases in Newborns: Should Preventative Measures be Taken with Genomic Screening?

Imagine, being able to halt the progress of or at least minimize the negative effects of a disease in a newborn before it's even started. Sounds great right? If we have this technology, we should implement it right away, correct? Well, let's not get ahead of ourselves considering there are many questions that need to be answered first. As stated in the article, screening newborns for rare genetic diseases is not new (first occurring in the 1960's) and has become much easier with the ability to sequence the human genome. Yet, this is where the questions come into play. Which rare disorders should be screened? How much will it cost? Will parents even want to do so (as stated in the article, they may feel overwhelmed)?

Obviously, with something so incredibly useful, we want it to be used in a manner that both is efficient and makes the most sense. Attempting to ensure newborns don't die early or suffer from one of these diseases is important. This is why it is crucial for this screening to be used (which may take about ten years to be implemented fully in the U.S.) once an effective approach is figured out by researchers. Another factor of importance is making people aware of this which may make it easier for them that just because it's new, doesn't mean they have to fear it. It may take time to perfect the use of this manner of screening, but it will eventually help millions of people.



  1. I think that preventive measures must be taken with genomic screening especially since this process started in the 1960s. The only thing is the cost may be expensive for the parents and the rare disorders to be screened may not be known.

  2. I find it interesting how some technology cannot be used right away and must go through years of testing to make sure its safe. People might be afraid of the new technology because they don't understand it. Maybe if there were more opportunities to learn about how it could help the parents and the newborn, more people would be willing to try it. Hopefully the technology behind the genomic screening can become affordable so that it becomes more available.