Introduction to the Special Issue: Psychological Aspects of Genomics and Child Health

The much-anticipated completion of the sequencing of the human genome (Lander et al., 2001; Venter et al., 2001) is expected to significantly alter our understanding of the genetic basis of several common chronic diseases and related health conditions, including diabetes, heart disease, high cholesterol, high blood pressure, osteoporosis, and some forms of cancer (Pang, Baum, & Lam, 2000). As a result of this breakthrough, the ability to predict the onset of disease will be enhanced, and more advanced and effective disease prevention, control, and treatment strategies will likely result (Gottesman & Collins, 1994). In light of this, both the practice of medicine and the ways in which health care will be delivered are expected to change considerably (Taylor, Edwards, & Ku, 2006). Notable changes will include the offer of newer and greater numbers of diagnostic and predictive genetic tests to individuals (Chung, 2007), and the incorporation of genetic testing into routine, preventive medical care (Burke, 2004; Knottnerus, 2003; Qureshi, Modell, & Modell, 2004). At a population level, these changes may ultimately result in a more healthful nation (Collins, 1999). Predictive genetic tests are genetic tests typically offered to healthy persons so as to assist in the determination of their risks of developing given diseases later in life (Chung, 2007). Some of the more well-known predictive genetic tests are those for Huntington's disease (Tibben, 2007), breast cancer (Bradbury & Olopade, 2007), and hemochromatosis (Burke, Reyes, & Imperatore, 2002). When partnered with information such as family history, environmental exposures, and lifestyle behaviors, risk information learned through genetic testing can be powerful and guide personal and medical decision making—including informing decisions about prevention and treatment options that are efficacious for a given individual's risk profile (Beery & Williams, 2007; Reid & Emery, 2006). Though there are many reasons to be hopeful and optimistic about the benefits of genetic testing for individuals, potentially at-risk family members, and the general population, knowledge generated from predictive genetic tests is not without hazard or debate. This includes a host of ethical, legal, social, and psychological issues that are raised by genetic forecasting of a future health state, including risks of social stigmatization, loss of privacy over protected health information, educational, employment, and insurance discrimination, uncertainty, psychological distress, and regret, and fatalistic thinking about the genetic determinism of disease (Burke, Pinsky, & Press, 2001). These issues are present not only for the individual who participates in genetic testing, but also for his or her family members who may share similar biological and environmentally moderated disease predispositions (Gaff et al., 2007; Jacobs & Deatrick, 1999). Nowhere are the above-mentioned issues more pronounced than when genetic testing is raised in the context of children's health and health care (American Society of Human Genetics & American College of Medical Genetics, 1995; Dinc & Terzioglu, 2006). There are many diagnostic and predictive genetic tests that are beneficially utilized with children (Twomey, 2006), but predictive genetic testing in children is often limited to only those disease circumstances where known prevention and intervention options already exist (e.g., familial adenomatous polyposis, multiple endocrine neoplasia type 2a). Presently, this represents a fraction of diseases—though it is expected to grow rapidly over time (Chung, 2007). Moreover, many of the newer genetic tests will likely be offered to the young and healthy, especially children, given the potential for these individuals to engage in health-promoting decision making and take additional steps toward primary disease prevention at early stages of life (Kenner, Gallo, & Bryant, 2005; Moore, Khoury, & Bradley, 2005). As genetic testing proliferates, greater numbers of adults will also be posed with decisions about participating in such testing and learning about their risks for disease. These adults are, oftentimes, parents of minor-age children who question whether or not their children could have inherited parental disease risks (Tercyak et al., 2007). Whether children directly participate in predictive genetic testing or not, they likely become aware of their family's history of disease, their parents’ genetic test results, and outcomes related to these circumstances—generating many questions and uncertainties about their own future health status (van Oostrom et al., 2006; Tercyak, Streisand, Peshkin, & Lerman, 2000). These and other issues are propelling a reexamination of what is known (and still unknown) about the risks and benefits of predictive and other forms of genetic testing in children, including testing for adult-onset diseases (Kopelman, 2007; Pelias, 2006; Rhodes, 2006). The aim of this Special Issue of the Journal of Pediatric Psychology on Psychological Aspects of Genomics and Child Health is to summarize and present some examples of contemporary behavioral science research at the interface of child health psychology and medical genetics/genomics research. As there is growing interest in understanding how genes interact with each other and with the environment to affect health throughout the lifespan (Cutfield, Hofman, Mitchell, & Morison, 2007), articles were sought addressing a spectrum of research—from newborn screening paradigms that detect serious or life-threatening conditions before symptoms begin, to predictive testing scenarios in childhood for late-onset medical disorders presenting during adulthood. The resulting collection of papers highlights some of the challenges and complexities confronting scientists in these areas, including the selection of appropriate research designs and methods to answer questions of interest, characterizing genotypes and phenotypes and interpreting their correspondence, and anticipating the needs and interests of parents, children, and health care providers as genetic knowledge emerges. As will be seen, the field of pediatric psychology has much to offer in beginning to address these challenges, to help blaze the trail for future research endeavors, and to promote health and well-being in the genomic era of medicine. This issue is in keeping with the Journal's renewed interest in prevention-focused research under the Editorship of Dr Dennis Drotar, including representation of works addressing a spectrum of risk, from healthy to medically affected populations (Tercyak, 2008). In doing so, we recognize that the activities of many scientist-practitioners in the field take place around advanced disease stages and in tertiary and acute care settings, where children have already been diagnosed and are receiving care for physical illnesses. However, as a field, we also recognize the value of primary prevention to help avert disease, its course, and impact. We seek to help change the outcome with respect to disease management, quality of life, and receipt of health care services, but also to broaden the populations, settings, and outcomes under investigation. This includes primary prevention of disease among healthy and at-risk populations, reaching children in their homes, schools, and communities, and examining the interplay among biological, psychological, and social influences that may promote and compromise children's health and wellness. Thus, the Special Issue is consistent with the Journal's focus on public and population health, as charged under the Editorship of Dr Ronald Brown (Brown, 2007), and as called upon during the editorial tenure of Dr Anne Kazak (Kazak, 2002) and other leaders in the field (e.g., Black, 2002; Roberts, 1986).