One of my young friends (just 3 months old) was recently diagnosed with a inborn error of metabolism after neonatal screening. Any negative outcomes are easily prevented with dietary supplements, and my friend will probably never suffer any consequences.

The interesting part of this story is that his father is not just a genetic carrier, but actually has the disease, which has never been diagnosed. So this 30-something, apparently healthy guy has started new treatment and feels remarkably well. He now has the opportunity to have testing for all of the bad things that might be going on because of this condition, and, if he is lucky, have permanent problems treated and prevented.

It may just be my circle of friends, but I have met a number of people recently who have benefitted from their relatives disease screening. I know people whose kids have been diagnosed with learning disorders at school screening, only to benefit from the treatment themselves. And in my work with breast cancer patients, I have met many women having treatment for breast cancer they have not even developed yet. (This happens when a relative with breast cancer has a genetic association detected, allowing treatment of others carrying the same gene.)

Screening tests are a conspiracy by the government, in the same way that immunisations are. Basically, they are a financial decision – providing the screening test to hundreds of people in order to prevent the disease in one is cheaper than treating the one. However, I am pretty sure they don’t always take into account the added benefit to genetic relatives.

This tickles me. Is our medical screening and prevention culture the start of a landslide? How can we measure the effect of the neighbour getting a colonoscopy because he hears first hand about colon cancer? Can we count the benefit of treating diseases in adults that weren’t even described 30 years ago when they were having their heel-prick tests? Incredible.

Image Credit: Redglow