Emboldened by the completion of the sequence of the human genome, many scientists envision a future in which personalized genomic risk information will be provided to individuals to motivate risk-reducing behaviors, and improve primary intervention and treatment. 1, 2
One suggested approach is to conduct whole genome scans of healthy individuals and return personalized risk profiles that identify propensities to multiple health conditions. Ideally, this information would enable individuals to take precautions prior to their experiencing negative health outcomes.
Indeed, the first generation of SNP-based testing is now being marketed directly to consumers. 3
The resulting genomic profiles are based on simultaneously testing for multiple polymorphisms at multiple loci. At prices ranging from $399 to $2500 (with optional added service costs), these tests are still not affordable to most Americans. However, rapid advancements in analysis technologies and decreasing cost means that these tests will likely become affordable in the coming decade.
The lack of proven clinical utility of these tests raises concern among the scientific and medical communities who consider these tests to represent “premature translation.” 4-6
Critics argue that these genetic variants contribute relatively little to risk for common health conditions and that the general public, naïve to the complex and multi-factorial nature of these diseases, could misinterpret results. Moreover, concerns also have been raised that the speed at which genomic knowledge has been uncovered has left little time for health professionals to acquire the skills needed to accurately interpret such test results. 7
Thus, patients presenting with personalized genomic profiles in hand may be met by puzzled primary care physicians and prompt unwarranted referrals to health services.
Currently, little is known about the psychological and behavioral factors that characterize patients who seek genetic susceptibility testing for common preventable health conditions (e.g., heart disease, adult onset diabetes, or common cancers). What little is known comes predominantly from studies of rare hereditary cancer syndromes and Alzheimer’s disease. 8, 9
Individuals seeking genetic testing for these conditions have been relatively homogeneous with respect to socioeconomic status and race (well-educated, white). Moreover, these individuals largely have been recruited from families identified to be at high risk for these syndromes where mutation carriers have up to 80% increased lifetime risk. Thus, not surprisingly, these individuals typically report perceiving themselves to be at high risk for these conditions, and to feel concerned that they may be at genetic risk.8, 10, 11
These results may not generalize to the context of genetic testing for common health conditions in healthy individuals where gene variants act together with environmental and behavioral risk factors to increase risk, and genes alone confer relatively modest increases in risk, usually on the order of 20-30%. 12
The rapid pace of genetic discovery has been complemented with increased distribution of health information via the Internet. Internet access to health information arguably can empower the public as health consumers because it enables user-controlled interactions with information and other customization capabilities, is available virtually free of charge, and covers a breadth of topics. 13
Indeed, in the case of genomic testing, the Internet could provide a platform for a balanced presentation of information whereby individuals can consider, at their own pace and in privacy, whether or not to undergo such testing, all key to informed decision-making. 14
However, concerns too have been raised that over-reliance on the Internet may create a “digital divide” due to unequal Internet access and distrust in the security of information shared online. 15
Data available thus far on health information seekers who use the Internet shows consistently that women, whites, and the highly educated are overrepresented. 15
Concerns also have been raised that Internet health information seeking “triangulates” the patient-physician encounter in ways that can be challenging for both parties. 16
Several editorials have raised practical questions about how physicians might handle patients who present them with genome scans, suggesting that these new technologies may distract from important and valid clinical assessments.17
Yet, little is known about the psychological and behavioral factors that characterize Internet information seekers generally or those seeking genetic information online. Consideration of these factors could help health systems and health care providers prepare for patient demand and as such, inform early steps towards clinical integration of counseling and service delivery that might be prompted by such testing.
In 2006, the Multiplex Initiative, a pre-clinical, multi-center, prospective observational study, was launched. Our primary aim (and the focus of this report) is to evaluate with a population-based sample of healthy adults (i.e., a sampling frame with a known denominator) what factors predicted interest in and uptake of a multiplex genetic susceptibility test (MGST) for eight common health conditions. Our intent was to educate a representative sample of individuals about genetic testing while assessing their social, psychological and behavioral characteristics. This enabled us to compare the characteristics of the sizable group who chose not to be tested to those who requested testing.
We obtained data describing our population-based sampling strategy in which hard-to-reach subgroups, specifically African Americans, men and those with low education were oversampled (Hensley-Alford et al, unpublished). African Americans and men were least likely to complete the baseline survey, and log onto the Web site, and African Americans were least likely to opt for genetic testing. In this report, we explore a broad array of factors previously identified as predictors of health information seeking, 18
to address four questions of importance to understanding the implications of MGST being offered directly to consumers: (1) Were Multiplex Information Seekers inclined to hold genetically deterministic explanations for common preventable health conditions?; (2) Were Multiplex Information Seekers inclined to be “risk perceivers”, that is, report high objective and subjective risk for the health conditions? (3) Were Multiplex Information Seekers inclined to be “skilled information consumers”, that is, report greater competence with the health care system and genetics?; or (4) Were Multiplex Information Seekers inclined to be “health information monitors” that is, especially interested in health information?