Wednesday, October 31, 2007

Deborah Bolnick


Deborah Bolnick – Asst. Professor, Department of Anthropology, University of Texas at Austin

Professor Bolnick's name and quotes appear in several published papers and media articles critical of Direct-To-Consumer (DTC) DNA testing. In a 2007 e-mail that was posted with her permission, she states that "Along with some of my co-authors, I would like to write a longer and more thorough article for a popular science magazine in the future, with the hope that that type of article would be more accessible and helpful to test-takers." What is her definition of "helpful"? The latest paper she appears as a co-author on is "The Illusive Gold Standard in Genetic Ancestry Testing" which calls upon several U.S. federal agencies to impose regulations on ancestry DTC testing. Considering that regulations would add layers of bureaucracy to ordering a genetic ancestry test, that would not be what consumers would define as "helpful".

Excerpt from The Science and Business of Genetic Ancestry Testing Science Magazine 19 Oct 2007

“However, both scientists and consumers should approach genetic ancestry testing with caution because (i) the tests can have a profound impact on individuals and communities, (ii) the assumptions and limitations of these tests make them less informative than many realize, and (iii) commercialization has led to misleading practices that reinforce misconceptions.”

This particular publication has been picked up and cited by several others in academia with similar viewpoints critical of DTC testing. Examples from articles written by others who cite or quote, "The Science and Business of Genetic Ancestry Testing":

“Guilt Beyond a reasonable doubt.” by David Altsuler
- Published in Nature 2007

“Patients may change their medical care if they believe their ancestral underpinnings make them more or less prone to particular genetic diseases, but do not realize that the testing is only probabilistic and may not be accurate.”
- Published in Journal Watch Psychiatry October 29, 2007

"As disease association tests have appeared, another industry has emerged: genomic testing of maternal (mitochondrial) and paternal (Y chromosomal) DNA to learn of geographic ancestry. Such tests, however, provide a snapshot of only a tiny percentage of an individual's genomic complement. Not surprisingly, the accuracy of these genealogic predictions is variable. It is difficult to critically analyze this approach because many of these companies use proprietary databases and differing "filters" for the data. Because ancestry and risk for specific diseases are often intertwined, the policies and professional attention focused on direct-to-consumer genetic testing for disease should also be applied to testing for ancestry.”
- Published in JAMA – Journal of the American Medical Association March 19, 2008

"Policy Considerations - Genetic ancestry testing raises several policy considerations. These include concerns about direct-to-consumer marketing of the tests; reinforcement of scientifically
questionable ideas about the relationship between race and genetics; and privacy of the test results."
- CRS Report for Congress "Genetic Ancestry Testing" March 12, 2008

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.