The impact of receiving predictive genetic information about Lynch syndrome on individual colonoscopy and smoking behaviours

abstract:
The impact of receiving predictive genetic information about Lynch syndrome on individual colonoscopy and smoking behaviours

Background:
This study investigated whether receiving the results of predictive genetic testing for Lynch syndrome-indicating the presence or absence of an inherited predisposition to various cancers, including colorectal cancer (CRC)-was associated with change in individual colonoscopy and smoking behaviours, which could prevent CRC.

Methods:
The study population included individuals with no previous diagnosis of CRC, whose families had already-identified deleterious mutations in the MMR or EPCAM genes. Hypotheses were generated from a simple health economics model and tested against individual-level panel data from the Australasian Colorectal Cancer Family Registry.


Results:
The empirical analysis revealed evidence consistent with some of the hypotheses, with a higher likelihood of undergoing colonoscopy in those who discovered their genetic predisposition to CRC and a lower likelihood of quitting smoking in those who discovered their lack thereof.

Conclusions:
Predictive genetic information about Lynch syndrome was associated with change in individual colonoscopy and smoking behaviours but not necessarily in ways to improve population health.

Impact:
The study findings suggest that the impact of personalized medicine on disease prevention is intricate, warranting further analyses to determine the net benefits and costs.