One of the arenas that is going to be fascinating to watch over the next few years is the intersection of public health and genomics. It’s going to be exciting, it’s going to be confusing, and it’s going to be scary. Quite a roller coaster overall.
On the front lines in this will be newborn screening. Newborn screening is an effective public health tool that identifies babies born with certain medical conditions, and if a child is identified with a condition the appropriate interventions can be taken immediately to prevent serious consequences. A classic example of this is PKU screening. The GeneTests resource GeneReviews has a nice article on the PKU/ Phenylalanine hydroxylase (PAH) deficiency. They indicate that newborn screening identifies nearly 100% of the affected babies, who can immediately be provided with the appropriate therapies to prevent consequences that can include “microcephaly, epilepsy, severe intellectual disability, and behavior problems”. Who wouldn’t want to prevent that in their babies?
Well, it might happen that people decline to find out if their baby has this. A terrific article by Mary Carmichael in Nature (free to read, but registration required) covers the controversy about newborn screening generated by a woman who is afraid of the government having the DNA: Newborn screening: A spot of trouble.
It has remarkable parallels to the anti-vaccination public health issues. If people start opting-out of newborn screening, there could be real medical consequences for children and their families. Unlike infectious disease, at least it would be contained to that family, except when the family needs public services and care.
I have no issues with improved consent, and I’m a strong advocate of genetic privacy regulations. But I’ll bet this is just the start of a series of skirmishes on this topic, and like vaccination there will be a conspiracy-theory + denier component that generates unnecessary fear with major misrepresentations and could cause real harm.
Anyway–check out the article and the accompanying Nature editorial: There Will Be Blood.
The good news is that we can learn from the vaccination situation, and try to get ahead of the fear and the lies–there’s still time at this point. The bad news is that it’s going to take a lot of work to play the whack-a-mole game on this, and the goal posts will keep moving–and who is going to be able to devote the time and energy to wrestling with that?
For some additional helpful general information on newborn testing in general, check out the Newborn Screening Clearinghouse here.