Jenny Ostergren

Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies

Direct-to-consumer genetic testing (DTC-GT) has sparked much controversy and undergone dramatic changes in its brief history. Debates over appropriate health policies regarding DTC-GT would benefit from empirical research on its benefits, harms, and limitations. We review the recent literature (2011-present) and summarize findings across (1) content analyses of DTC-GT websites, (2) studies of consumer perspectives and experiences, and (3) surveys of relevant health care providers. Findings suggest that neither the health benefits envisioned by DTC-GT proponents (e.g., significant improvements in positive health behaviors) nor the worst fears expressed by its critics (e.g., catastrophic psychological distress and misunderstanding of test results, undue burden on the health care system) have materialized to date. However, research in this area is in its early stages and possesses numerous key limitations. We note needs for future studies to illuminate the impact of DTC-GT and thereby guide practice and policy regarding this rapidly evolving approach to personal genomics.

Addiction: Current Criticism of the Brain Disease Paradigm

To deepen understanding of efforts to consider addiction a “brain disease,” we review critical appraisals of the disease model in conjunction with responses from in-depth semistructured stakeholder interviews with (1) patients in treatment for addiction and (2) addiction scientists. Sixty-three patients (from five alcohol and/or nicotine treatment centers in the Midwest) and 20 addiction scientists (representing genetic, molecular, behavioral, and epidemiologic research) were asked to describe their understanding of addiction, including whether they considered addiction to be a disease. To examine the NIDA brain disease paradigm, our approach includes a review of current criticism from the literature, enhanced by the voices of key stakeholders. Many argue that framing addiction as a disease will enhance therapeutic outcomes and allay moral stigma. We conclude that it is not necessary, and may be harmful, to frame addiction as a disease.

Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing

BACKGROUND Direct-to-consumer (DTC) personal genomic testing (PGT) allows individuals to learn about their genetic makeup without going through a physician, but some consumers share their results with their primary care provider (PCP). OBJECTIVE To describe the characteristics and perceptions of DTC PGT consumers who discuss their results with their PCP. DESIGN Longitudinal, prospective cohort study. SETTING Online survey before and 6 months after results. PARTICIPANTS DTC PGT consumers. MEASUREMENTS Consumer satisfaction with the DTC PGT experience; whether and, if so, how many results could be used to improve health; how many results were not understood; and beliefs about the PCPs understanding of genetics. Participants were asked with whom they had discussed their results. Genetic reports were linked to survey responses. RESULTS Among 1026 respondents, 63% planned to share their results with a PCP. At 6-month follow-up, 27% reported having done so, and 8% reported sharing with another health care provider only. Common reasons for not sharing results with a health care provider were that the results were not important enough (40%) or that the participant did not have time to do so (37%). Among participants who discussed results with their PCP, 35% were very satisfied with the encounter, and 18% were not at all satisfied. Frequently identified themes in participant descriptions of these encounters were actionability of the results or use in care (32%), PCP engagement or interest (25%), and lack of PCP engagement or interest (22%). LIMITATION Participants may not be representative of all DTC PGT consumers. CONCLUSION A comprehensive picture of DTC PGT consumers who shared their results with a health care provider is presented. The proportion that shares results is expected to increase with time after testing as consumers find opportunities for discussion at later appointments or if results become relevant as medical needs evolve. PRIMARY FUNDING SOURCE National Institutes of Health.

Reasons for non-use of condoms among men who have sex with men: a comparison of receptive and insertive role in sex and online and offline meeting venue

This study examined reasons for non-use of condoms among an online survey sample of 462 non-condom using men who have sex with men to: (1) identify major domains, themes and categories encompassing reasons for non-use of condoms and (2) examine whether reasons varied by role-in-sex (insertive or receptive) and meeting venue (online or offline). A thematic analysis was completed on participant responses to an open-ended question about reasons for non-condom use. Preference for not using condoms and contextual factors were the top two reasons given for not using condoms, followed by a reasoned judgment based on risk assessment, relationship status and interpersonal communication. No major differences were found between men who reported non-condom use at last receptive and insertive anal intercourse. By contrast when meeting online, men were more likely to report reasons for non-condom use that corresponded to individual preference and mutual agreement not to use condoms. When meeting offline, men were more likely to cite reasons related to context and relationships. In developing HIV-prevention interventions for this population, researchers should address both venues separately, as reasons why men engage in non-use of condoms appear to differ.

How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study.

Aim: To assess customer comprehension of health-related personal genomic testing (PGT) results. Methods: We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimers disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension. Results: Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1-97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6-74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥60 years) was associated with lower comprehension scores. Conclusions: Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics.

The experience of addiction as told by the addicted: incorporating biological understandings into self-story.

How do the addicted view addiction against the framework of formal theories that attempt to explain the condition? In this empirical paper, we report on the lived experience of addiction based on 63 semi-structured, open-ended interviews with individuals in treatment for alcohol and nicotine abuse at five sites in Minnesota. Using qualitative analysis, we identified four themes that provide insights into understanding how people who are addicted view their addiction, with particular emphasis on the biological model. More than half of our sample articulated a biological understanding of addiction as a disease. Themes did not cluster by addictive substance used; however, biological understandings of addiction did cluster by treatment center. Biological understandings have the potential to become dominant narratives of addiction in the current era. Though the desire for a “unified theory” of addiction seems curiously seductive to scholars, it lacks utility. Conceptual “disarray” may actually reflect a more accurate representation of the illness as told by those who live with it. For practitioners in the field of addiction, we suggest the practice of narrative medicine with its ethic of negative capability as a useful approach for interpreting and relating to diverse experiences of disease and illness.

Unwarranted Optimism in Media Portrayals of Genetic Research on Addiction Overshadows Critical Ethical and Social Concerns

The cost of addiction in the United States, in combination with a host of new tools and techniques, has fueled an explosion of genetic research on addiction. Because the media has the capacity to reflect and influence public perception, there is a need to examine how treatments and preventive approaches projected to emerge from addiction genetic research are presented to the public. The authors conducted a textual analysis of 145 news articles reporting on genetic research on addiction from popular print media in the United States and from popular news and medical internet sites. In articles that report on prevention, the media emphasize vaccine development and identifying individuals at genetic risk through population screening. Articles that emphasize treatment often promote current pharmaceutical solutions and highlight the possibility of tailoring treatments to specific genetic variants. The authors raise concerns about the tendency of this coverage to focus on the benefits of pharmaceutical treatments and genetic-based approaches to prevention while neglecting or downplaying potential risks and ethical issues. This analysis suggests a need for more balanced, evidence-based media reporting on the potential outcomes of genetic research.

The Media and Behavioral Genetics Alternatives Coexisting with Addiction Genetics

To understand public discourse in the United States on genetic causation of behavioral disorders, we analyzed media representations of genetic research on addiction published between 1990 and 2010. We conclude first that the media simplistically represent biological bases of addiction and willpower as being mutually exclusive: behaviors are either genetically determined, or they are a choice. Second, most articles provide only cursory or no treatment of the environmental contribution. A media focus on genetics directs attention away from environmental factors. Rhetorically, media neglect the complexity underlying the etiology the addiction and direct focus back toward individual causation and responsibility.

Chronic Addiction, Compulsion, and the Empirical Evidence

Pickard (2012) provides a strong critique of the definition of addiction as a “chronic, relapsing, neurobiological disease characterized by compulsive use of drugs or alcohol.” We agree with Pickard that framing addiction as a “disease of the brain” may have unintended consequences; for example, the model deemphasizes the influences of culture and environment, needlessly narrowing our understanding of addiction (Dingel, Karkazis, and Koenig 2011). However, we do not support her analysis fully. Pickard assumes that researchers and patients suffering from addictive disorders make literal use of the “disease of the brain” metaphor. She seriously overstates its influence. Based on five years of ethnographic fieldwork with addiction researchers, clinicians, and patients, we conclude that empirical realities are not consistent with Pickard’s position. The strong definition of compulsion Pickard refers to, and also associates with a neurobiological understanding of addiction—”an urge, impulse or desire that is irresistible: so strong that it is impossible for it not to lead to action”—implies that there is no choice (Pickard 2012). However, just because something is biological or a “disease” does not mean there is no choice or a loss of choosing capacity. Indeed, as noted by Ho and colleagues (2010), “The voluntary initiation and continuation of a behavior that is harmful to health is an important aspect of the etiology of many common diseases, including cardiovascular disease and metabolic syndrome” (779, emphasis added). Nora Volkow, the current head of the National Institute on Drug Abuse, has endorsed a theory in which addiction is thought to result from problems of motivation of choice—a framing that implies that “choosing,” though difficult, is still possible (Kalivas and Volkow 2005). While Pickard suggests that most scientists consider compulsion an all-or-none thing, we disagree. Data from our current study support what others have noted: Scientists are focused on enhancing our understanding of biological factors involved in addiction, which they hope will encourage policy changes that emphasize treatment; the basic assumption is that drug addicts have free will and can recover. As addiction researcher Griffith Edwards (2003) writes, alcoholism “is best approached through a framework of the

“I don’t have to know why it snows, I just have to shovel it!”: Addiction recovery, genetic frameworks, and biological citizenship

The gene has infiltrated the way citizens perceive themselves and their health. However, there is scant research that explores the ways genetic conceptions infiltrate individuals’ understanding of their own health as it relates to a behavioral trait such as addiction. Do people seeking treatment for addiction ground their self-perception in biology in a way that shapes their experiences? We interviewed 63 participants in addiction treatment programs, asking how they make meaning of a genetic understanding of addiction in the context of their recovery, and in dealing with the stigma of addiction. About two-thirds of people in our sample did not find a genetic conception of addiction personally useful to them in treatment, instead believing that the cause was irrelevant to their daily struggle to remain abstinent. One-third of respondents believed that an individualized confirmation of a genetic predisposition to addiction would facilitate their dealing with feelings of shame and accept treatment. The vast majority of our sample believed that a genetic understanding of addiction would reduce the stigma associated with addiction, which demonstrates the perceived power of genetic explanations in U.S. society. Our results indicate that respondents (unevenly) ground their self-perception of themselves as an addicted individual in biology.