Screening is an approach for recognising disease in often asymptomatic individuals, enabling early intervention and management to ultimately decrease morbidity and mortality. Universal screening includes screening a certain proportion of the population (for example women over 55 with regards to breast cancer) or case finding involves screening high-risk individuals (for example screening for hemochromatosis in a child whose mother has just been diagnosed). I will explore the latter in more detail.
Screening for hemochromatosis is carried out if a close family member is diagnosed. Importantly, genetic testing cannot predict who will develop hemochromatosis. Instead, biochemical testing for iron overloading is preferred. Iron loading occurs over a long period of time and this has an important ramification - if the person is initially deemed to be negative, this does not necessarily mean they do not have the condition. Instead, repeat biochemical testing is required every 2-5 years.
This can have important psychological effects on the person involved: they may feel as though they are playing a waiting game their whole lives, even though they may never get diagnosed. It goes back to Davids point that it may make the individual feel as though they have the disease even though they may not. The patient may blame the diagnosed relative as they themselves are (often young) and asymptomatic, yet they are still being repeatedly tested and thus feel stigmatised.
Of course, if somebody is diagnosed correctly it is deemed a success, but at what cost?
