Abstract
While medical research continues to investigate the genetic basis of cancer, and personalised prevention gains momentum, little research has been conducted with the individuals who decline predictive genetic testing for cancer. We recruited individuals who had been offered genetic testing for Lynch syndrome or bi-allelic MUTYH mutations due to their participation in a large, population-based, Australia-wide colorectal cancer study. Thirty-three individuals in mutation-carrying families, unaffected by cancer, who had actively or passively declined testing at one of four decision-making points, took part in a qualitative interview about their decision. Data analysis revealed a typology of 'decliners': (1) uninformed about genetic testing; (2) a weak intention to undergo genetic testing; (3) conditionally declining; and (4) unconditionally declining testing. In this population we found substantial barriers to achieving the benefits promised by predictive genetic testing; a lack of knowledge of the availability of genetic testing; a lack of trust in genetic test information; a desire to see a stronger benefit from genetic testing before proceeding; and a sense that there may be more negative than positive outcomes from genetic testing. These discourses must be addressed if medical research on the genetic basis of cancer continues to be funded, and personalised prevention of cancer continues to be recommended by experts.
Highlights
Little is known about those who decline genetic testing, who are likely to be positioned differently in relation to genetic information to those who are taking part in genetic counseling and testing consultations. We have studied this population in the context of hereditary colorectal cancer syndromes, in order to understand; the reasons offered for declining genetic testing; individual’s position in relation to information about genetic testing; and the prevalent discourses about genetic information and tailored screening for colorectal cancer for those declining an offer of testing
We were provided a rare opportunity to consider genetic testing decision-making for healthy study participants who decline genetic testing, and are outside the usual clinical samples seen in genetic testing research
Our study is part of a large population- and clinicbased registry in which participants are informed from the outset that they will be offered the opportunity to learn of clinically significant genetic information through clinical services
Summary
Most sociological and psychological research on genetic testing for cancer pre-disposition has been conducted with the self-selected individuals who attend familial cancer clinics or their relatives (McAllister, 2002; Claes et al, 2004; Collins et al, 2005; Featherstone et al, 2006; Domanska et al, 2007; Arribas-Ayllon et al, 2013), or those diagnosed with cancer and receiving treatment-focused testing (Hallowell et al, 2004; Esplen, 2007). Genetic testing for both Lynch syndrome and bi-allelic MUTYH, if followed by appropriate colorectal cancer screening, has the potential to reduce CRC morbidity and mortality
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