The Impact of Receiving Predictive Genetic Information about Lynch Syndrome on Individual Colonoscopy and Smoking Behaviors

Abstract

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—was associated with change in individual colonoscopy and smoking behaviours, which could prevent colorectal cancer. Methods The study population included individuals with no previous diagnosis of colorectal cancer, whose families had already-identified deleterious mutations in the mismatch repair 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 colorectal cancer and a lower likelihood of quitting smoking in those who discovered their lack thereof. Conclusion 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.

Impact of national guidelines on use of BRCA1/2 germline testing, risk management advice given to women with pathogenic BRCA1/2 variants and uptake of advice

“…Limitations of the study are a relatively low participation rate of carriers in the interview study (52%); due to ethical stipulations we were not able to follow up non-responders more than once. However, similar participation rates have been reported by other studies using medical records [ 28 , 29 ]. Another limitation is that no data were collected on sociodemographic variables (with the exception of age) to avoid participant fatigue, limit the time taken to interview patients, and to comply with the low-risk ethics approval status of the study.…”

Is a colorectal neoplasm diagnosis a trigger to change dietary and other lifestyle habits for persons with Lynch syndrome? A prospective cohort study

“…Nevertheless, an increased motivation for behavioral change, as found in these studies, does not necessarily imply changes will occur. For instance, Kim et al [ 45 ] found that LS mutation carriers who discovered their genetic predisposition to CRC were not more likely to quit smoking compared to LS carriers who did not obtain their genetic test results. Moreover, in a qualitative study among a population similar to ours, Visser et al [ 46 ] found that receiving a LS diagnosis was not reported as an important determinant of adherence to lifestyle recommendations and was actually found to be a barrier in adapting to a more healthy lifestyle.…”

Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC)

“…Lynch syndrome (cancer caused by inherited mutations in DNA MMR genes MLH1, MSH2, MSH6 and PMS2 or EPCAM) has been a major research focus of the CCFRC. These studies have included analyses of the identification of Lynch syndrome [15][16][17][18] and associated rare variant classification, [19][20][21] age-specific risk of cancer (penetrance), [22][23][24][25] effect of extent of colon resection on the risk of metachronous cancer, 26 prevalence of Lynch syndrome in colorectal cancer cases 27 and in the general population, 28 pathology of Lynch syndrome tumours, 29 acceptability and impact of genetic testing, [30][31][32][33] and modifiers of penetrance for Lynch syndrome-associated cancers. [34][35][36][37][38][39][40][41][42] A prime example is the prospective cohort analysis of MMR gene mutation carriers to estimate cancer risks, i.e.…”