The expanded use of genetic testing raises key ethical and policy questions about possible benefits and harms for those receiving disease‐risk information. As predictive testing for Huntington’s was initiated in a clinical setting, survey research posing hypothetical test scenarios suggested that the vast majority of at‐risk relatives wanted to know whether they carried a disease‐causing mutation. However, only a small minority ultimately availed themselves of this opportunity. Many at‐risk individuals concluded that a positive test result would be too psychologically overwhelming. (...) A substantial literature suggests that individuals are often more resilient than anticipated in coping with many different health‐related stresses. Much of my own work in the field has been through the Risk Evaluation & Education for Alzheimer’s Disease study (REVEAL), a series of randomized clinical trials assessing the impact of genetic susceptibility testing on asymptomatic individuals at risk for Alzheimer’s disease. Our experience in developing and implementing four successive, multisite trials provides some potentially useful lessons for the field. More people will be asking for their personal genetic information. Better understanding will help us decide when access is appropriate and how best to disclose results in a manner that supports adjustment to test findings and promotes use of genetic information to improve human health. (shrink)

If I told you that screening technologies are iteratively transforming how people experience pregnancy and early parenting, you might take notice. If I mentioned that a new class of newborn patients was being created and that particular forms of parental vigilance were emerging, you might want to know more. If I described how the particular stories told about screening in public, combined with parents’ fierce commitment to safeguarding their children’s health, make it difficult for problematic experiences with screening to translate (...) into negative opinions about it, you would most likely be intrigued. An extensive qualitative literature documents all these social phenomena, and more, in connection with the spread of prenatal and newborn screening. So why is it, then, that commentators frequently assert that the predicted psychosocial impact of increased screening and testing associated with “the genomic revolution” has been far less severe and worthy of attention than predicted? How can or should social science “evidence” that sits outside adopted measurement conventions be considered? Why is it that summary statements about the psychosocial impact of genomic information often ignore qualitative evidence, or sideline it as relevant only for improving communication among patients, clinicians, and public health systems? This essay addresses such questions, using qualitative research on prenatal and newborn screening as a case study for illustrating the broad methodological, ideological, and dialogical issues at stake. (shrink)

As genomic science has evolved, so have policy and practice debates about how to describe and evaluate the ways in which genomic information is treated for individuals, institutions, and society. The term genetic exceptionalism, describing the concept that genetic information is special or unique, and specifically different from other kinds of medical information, has been utilized widely, but often counterproductively in these debates. We offer genomic contextualism as a new term to frame the characteristics of genomic science in the debates. (...) Using stasis theory to draw out the important connection between definitional issues and resulting policies, we argue that the framework of genomic contextualism is better suited to evaluating genomics and its policy-relevant features to arrive at more productive discussion and resolve policy debates. (shrink)

Abstract“Psychological essentialism” refers to our tendency to view the natural world as emerging from the result of deep, hidden, and internal forces called “essences.” People tend to believe that genes underlie a person’s identity. People encounter information about genetics on a regular basis, as through media such as a New York Times piece “Infidelity Lurks in Your Genes” or a 23andMe commercial showing people acquiring new ethnic identities as the result of their genotyping. How do people make sense of new (...) scientific findings that are inherently complex if they don’t have years of specialized training and education at their disposal? Given the substantial overlap between a lay understanding of genetics and lay intuitions about essences, we argue that, when most people are thinking about genes, they are not really thinking about genes in the complex ways that good scientists are. Combating people’s essentialist biases can be a formidable challenge. Although we have identified some promising results of trying to reduce people’s genetic essentialist tendencies, there is still much to learn about how these essentialist biases can be countered. It is important to help people understand genetic information so they are able make well‐informed decisions about their lives. (shrink)

Optimistic predictions that genetic and genomic testing will provide health benefits have been tempered by the concern that individuals who receive their results may experience negative psychosocial outcomes. This potential ethical and clinical concern has prompted extensive conversations between policy‐makers, health researchers, ethicists, and the general public. Fortunately, the psychosocial consequences of such testing are subject to empirical investigation, and over the past quarter century, research that clarifies some of the types, likelihood, and severity of potential harms from learning the (...) results of the testing has accumulated. I aim to provide an overview of the findings of this research by looking at selected systematic reviews. This will convey the gist of the literature’s quality and coverage, reveal gaps in existing knowledge, and highlight promising areas for future scholarship. (shrink)

In recent years, with both the development of next‐generation sequencing approaches and the Supreme Court decision invalidating gene patents, declining costs have contributed to the emergence of a new model of hereditary cancer genetic testing. Multigene panel testing (or multiplex testing) involves using next‐generation sequencing technology to determine the sequence of multiple cancer‐susceptibility genes. In addition to high‐penetrance cancer‐susceptibility genes, multigene panels frequently include genes that are less robustly associated with cancer predisposition. Scientific understanding about associations between many specific moderate‐penetrance (...) gene variants and cancer risks is incomplete. The emergence of multigene panel tests has created unique challenges that may have meaningful psychosocial implications. Contrasted with the serial testing process, wherein patients consider the personal and clinical implications of each evaluated gene, with multigene panel testing, patients provide broad consent to whichever genes are included in a particular panel and then, after the test, receive in‐depth genetic counseling to clarify the distinct implications of their specific results. Consequently, patients undergoing multigene panel testing may have a less nuanced understanding of the test and its implications, and they may have fewer opportunities to self‐select against the receipt of particular types of genetic‐risk information. Evidence is conflicting regarding the emotional effects of this testing. (shrink)

Given the rise of genetic etiological beliefs regarding psychiatric disorders, a growing body of research has focused on trying to elucidate the effects that such explanatory frameworks might be having on how mental disorders are perceived by patients, clinicians, and the general public. Genetic and other biomedical explanations of mental disorders have long been seen as a potential tool in the efforts to destigmatize mental disorders, given the harshness of the widespread negative attitudes about them and the important negative clinical (...) and social impacts of this stigma. The conventional wisdom has appeared to be that because the effects of genes are seen as falling outside individual control, conceiving of mental disorders as caused by genes casts patients as blameless, thereby reducing stigmatization. Indeed, the results of experimental and correlational research have now robustly linked genetic and other biomedical explanations for mental disorders with reductions in the extent to which people are blamed for their psychiatric symptoms. However, research examining the impact of genetic and other biomedical explanations of mental disorders has also suggested that they can have significant downsides. The most consistently observed negative effect of these kinds of explanations is that they can apparently lead to the assumption that mental disorders are unlikely to improve or abate. Genetic and other biomedical explanations of mental disorders can also increase people’s confidence in the effectiveness of biomedical treatments (such as pharmacotherapy) but decrease their confidence in the effectiveness of “nonbiomedical” treatments (such as psychotherapy). (shrink)

Prenatal screening and testing are preference‐based health care options. They are offered so that pregnant women and their partners can learn genetic information about the developing fetus. In this literature review, I summarize studies of women’s and their partners’ psychological responses to prenatal testing and screening. These studies investigate the experiences of pregnant women, largely in the United States, who have access to health care services. Although the results indicate that these women are receptive to prenatal testing and screening and (...) seem to have limited negative psychological consequences, pregnant women without access to these services are not represented and may have different experiences. With that caveat in mind, based on the evidence, women generally do well psychologically as they manage the options that arise for them in the prenatal context. (shrink)