Tuesday, October 2, 2007

Following the trail of "fatalism" in direct-to-consumer genomics

"Fatalism", which is the acceptance of all things and events as inevitable, has been applied as a reason to caution direct-to-consumer genomics. This label raises many questions: such as whether fatalism is truly an outcome of knowing information contained in our own genome? Or is a genetic fatalism different than one from knowing our family healthy history? What can we learn from those who have experienced a sense of genetic fatalism?

We turn to academia for the answers.

"The Future of Personal Genomics" postulates that while genetic testing "...studies are invaluable for understanding disease pathogenesis, but the present utility of this information for making treatment decisions is limited. Just because an association between genetic variation and disease is statistically significant does not mean that it is clinically meaningful" The authors support their opinion with, "For some, it might lead to fatalism and reduced compliance with healthy choices. As a result, many clinicians are “not at all enthusiastic about rushing out to test people in the clinic” for these genes (7)." The word fatalism doesn't actually appear in reference (7) but does appear in reference (8).

Reference (8) leads to "Potential for Genetics to Promote Public Health: Genetics Research on Smoking Suggests Caution About Expectations"

"Results indicate that knowledge of a small personal increase in risk is insufficient to facilitate smokers’ quitting, consistent with evolving evidence that genetic risk information may be ineffectual in motivating behavior change 22 or potentially may even be harmful by inducing fatalism, feelings of impotency, or loss of willpower.23"

Reference 23 is "The impact of learning of a genetic predisposition to nicotine dependence: an analogue study" a study of 269 British adult smokers which found that "Gene positive participants were significantly more likely to choose the cessation method described as effective for their genetic status, but significantly less likely to choose to use their own willpower." Is their reluctance to use willpower a result of genetic fatalism? The authors promote fatalism to support this theory with, "Genetic risks are sometimes seen as immutable and may engender a sense of fatalism. 7"

Reference 7 leads to "Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia", a study of 24 British parents of infants that were tested for a genetic predisposition for high cholesterol.

The paper only mentions "fatalism" in the title and the abstract "Conclusion: these pilot data raise questions about the extent to which assessing disease risks by DNA analysis may result in a sense of fatalism, adversely affecting motivation to change behaviour and to reduce risks."

Additional items of relevance that the authors acknowledge:

"Although family histories of heart disease were taken from all parents, not all parents appeared to be informed that the screening test was specifically a genetic test. As consultations were not tape recorded, however, it is not possible to assess the extent to which parents responses were determined by the information presented at the clinic."


"...genetic testing, perceptions of genes were only explored if participants raised them first."


"As the themes presented here were produced spontaneously by participants, rather than in response to specific questions, some of these representations were generated by only a small proportion of the sample. Whether or not the remaining participants represented cholesterol and genes in a similar fashion is not known."


"As the sample was small in size, it was not possible to ascertain whether sociodemographic factors such as gender, ethnicity and sociodemographic status were associated with the perceptions described. In addition, these findings may not be generalisable to other types of genetic testing, such as screening for recessive conditions or screening of populations aware of their high risk." (Perhaps the authors of the smoking study missed that last part?)

An important point to note is that the authors of the high cholesterol study do not state whether the 24 British parents were given any genetic counseling about the results.

With no additional sources for the word "fatalism" left to follow, we are left with the sum of the results: a mere 269 clinically tested British adults and unknown number of infants are the aggregate for the term "fatalism" being applied to direct-to-consumer genetic testing.

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