Kenneth P. Tercyak

Genetic testing: Psychological aspects and implications.

As the number of genes associated with inherited disease continues to grow, researchers and practitioners in behavioral medicine will encounter complex psychological issues faced by individuals at risk for these diseases. A review of the literature concerning prenatal, carrier, and predictive genetic testing suggests that the severity of psychological risks posed by research-based genetic testing is not great. However, subgroups of individuals with particular psychological traits may be more vulnerable to adverse effects. Available data do not provide evidence that genetic testing promotes changes in health-related behaviors. Thus, although there may be less of a role for mental health professionals in the psychological counseling of genetic testing participants, there is a need for research and practice to facilitate health protective behaviors in response to genetic risk information. The number of inherited disorders and risk factors that can be detected through genetic testing is increasing rapidly, and genetic testing may soon become a common component of routine medical care. Is behavioral medicine ready? For the first time, a sophisticated understanding of gene-environment interactions as manifested in the interactions among an individual’s genetic predispositions, behavior, and environment seems within reach. Rather than diminishing the role of behavioral science, advances in molecular medicine highlight the centrality of behavior both in disease etiology and in the translation of science into practice. The subset of psychological issues and processes that are most salient within the clinical genetics context has evolved alongside advances in biotechnology. Prenatal testing and carrier testing were among the first services offered, affording an opportunity for individuals to learn whether they had transmitted an altered gene to their offspring. As these tests provided information about the risk to the fetus, the focus of counseling tended to be on reproductive decision making. More recently, genetic testing is being applied to detect personal susceptibility to disease, shifting the focus of counseling to personal risk reduction. The hope is that awareness of genetic risk will enhance informed medical decision making by physicians and patients alike. However, there may also be psychological and social risks of genetic testing that should be considered, regardless of the potential medical benefits provided by testing. It is in this consideration of the entire breadth of the potential costs and benefits that psychologists can play a critical role. Both researchers and clinicians can assist patients, families, physicians, and policymakers as they grapple with the complex task of integrating genetic information into their professional practice and everyday lives. In this article, we review the behavioral science literature concerning genetic testing in the following three primary domains: prenatal testing, carrier testing, and predictive testing. Although it is impossible to provide an exhaustive review of this vast literature, several studies are described to illustrate issues of relevance to the field of clinical psychology. The greatest attention has been devoted to predictive testing, because this research area is the most active and has generated a relatively greater number of controlled quantitative studies. Within each domain, we consider the following questions, based on available data: (a) What factors have been shown to influence whether a person decides to have a genetic test? (b) What are the psychological and behavioral outcomes of genetic testing? (c) What interventions have been used to enhance the outcomes of testing? The final section of the article considers emerging themes, future research needs, and the implications for training and practice.

Association of Attention-Deficit/Hyperactivity Disorder Symptoms With Levels of Cigarette Smoking in a Community Sample of Adolescents

OBJECTIVE Research on the association of attention-deficit/hyperactivity disorder (ADHD) with cigarette smoking has primarily occurred within samples of clinically referred youths. This paper reports the association of ADHD symptoms with smoking practices in a community sample of adolescents. METHOD Confidential self-report surveys were completed by 1,066 tenth-grade students enrolled in five public high schools who were taking part in a longitudinal study of biobehavioral predictors of adolescent smoking adoption. A well-standardized measure of ADHD inattention and hyperactivity-impulsivity symptoms, as well as demographic and social risk factors, were examined in relation to three levels of cigarette smoking: (1) never having smoked, (2) ever having smoked, and (3) current smoking (having smoked a cigarette within the past 30 days). RESULTS Regarding lifetime cigarette use, approximately 43% of students had ever smoked. Among those who had ever smoked, approximately 31% of students were current smokers. Ever having smoked was associated with family (odds ratio [OR] = 2.49, confidence interval [CI] = 1.85, 3.36) and peer smoking (OR = 4.05, CI = 3.07, 5.33) and clinically significant ADHD inattention symptoms (OR = 3.39, CI = 1.53, 7.54). Current smoking was also associated with peer smoking (OR = 2.99, CI = 1.72, 5.20) and clinically significant ADHD inattention symptoms (OR = 2.80, CI = 1.20, 6.56). CONCLUSION Clinically significant ADHD symptoms should be taken into account when identifying adolescents at risk to smoke, since those with problematic inattention may be more likely to experiment with smoking and to become regular tobacco users.

Nicotine dependence treatment for patients with cancer

Cancer patients who use tobacco demonstrate characteristics of strong nicotine dependence and are at increased risk for future tobacco‐related morbidity and mortality. Continued smoking may contribute to poorer cancer treatment outcome and additional illness. In contrast, stopping smoking may improve quality of life and facilitate cancer treatment. Unfortunately, limited attention has been given to addressing tobacco use and treating nicotine dependence in cancer patients.

Pediatric-Specific Parenting Stress and Family Functioning in Parents of Children Treated for Cancer

The association between pediatric parenting stress (i.e., parenting stress related to caring for a child with a medical illness) and family functioning outcomes was evaluated in 116 parents of children treated for cancer. Results indicated that pediatric parenting stress, as measured by the Pediatric Inventory for Parents (PIP), was significantly correlated with family functioning, using the McMaster Family Assessment Device (FAD). After controlling for child treatment status (on vs. off treatment), several independent associations among PIP and FAD scores emerged, indicating that increased pediatric parenting stress is associated with poorer family functioning outcomes. Findings, within the limitations of the study, suggest that pediatric parenting stress and family functioning are important constructs to assess when working with children who are being treated for cancer, and family-based interventions targeting the needs of this population may be warranted.

Multiple behavioral risk factors among adolescent survivors of childhood cancer in the Survivor Health and Resilience Education (SHARE) Program

Health‐compromising behaviors among survivors of childhood cancer may increase their risks of cancer recurrence and the onset of chronic disease in adulthood. Regardless of whether such behaviors occur singly or in combination with one another, multiple behavioral risk factors must be identified and addressed early to promote better health outcomes within this special population. Adolescent survivors may be especially vulnerable, as reported rates of smoking and other risky behaviors are at or near levels of their healthy peers. The psychological literature suggests stress may play a role in risk behavior initiation and maintenance, including multiple behavioral risks, and that adolescent survivors are stress‐prone. This report focuses on the prevalence and co‐occurrence of three behavioral risk factors (cigarette use, insufficient physical activity, and non‐adherence to sun protection recommendations) and describes stress‐health behavior relationships in this special population.

Attention-Deficit Hyperactivity Disorder (ADHD) symptoms and smoking patterns among participants in a smoking-cessation program

Previous research has suggested an increased liability to smoking among individuals with Attention-Deficit Hyperactivity Disorder (ADHD). This link is thought to be attributable, in part, to nicotines beneficial effects on attention and performance. In the present study, we examined the association of ADHD symptoms of inattention and hyperactivity with smoking behavior in a sample of 226 male and female smokers ages 18 and older who were enrolled in a smoking-cessation program. Prior to treatment, they completed measures of ADHD symptoms and standardized measures of smoking patterns. Hierarchical linear regression models were used to characterize the smoking patterns associated with ADHD inattention and hyperactivity symptoms, controlling for potential confounder variables. Smoking for stimulation purposes and the urge to smoke to minimize withdrawal symptoms were the primary patterns associated with ADHD inattention symptoms, while hyperactivity symptoms were not associated with smoking patterns. Consistent with a self-medication hypothesis, these results suggest that smokers with frequent symptoms of inattention may use nicotine as a stimulant drug to help manage these symptoms. Future studies of the role of inattention symptoms in response to smoking treatment are warranted.

Quality of Life After Contralateral Prophylactic Mastectomy in Newly Diagnosed High-Risk Breast Cancer Patients Who Underwent BRCA1/2 Gene Testing

PURPOSE Recent studies indicate that high-risk breast cancer patients (ie, women who carry mutations in BRCA1/2 genes) who opt for contralateral prophylactic mastectomy (CPM) have a substantially reduced risk of developing contralateral breast cancer. However, the immediate and long-term impact of this decision on womens quality of life and psychosocial functioning is largely unknown. In this study, we compared the impact of BRCA1/2 genetic test result and CPM on these outcomes among newly diagnosed breast cancer patients who opted for CPM at the time of their definitive surgical treatment versus patients who did not. PATIENTS AND METHODS Participants were 149 high-risk women who underwent genetic counseling and testing for alterations in the BRCA1/2 genes. We measured self-reported quality of life, cancer-specific distress, and genetic testing-specific distress using standardized instruments before receipt of genetic test results and again 1 and 12 months later. RESULTS Compared with patients who chose breast conservation or unilateral mastectomy, those who chose mastectomy of the affected breast and CPM of the unaffected breast did not report diminished quality of life or elevated distress. CONCLUSION With respect to quality of life and distress, patients who choose CPM fare as well as those who do not in the first year after surgery.

Weight, Dietary Behavior, and Physical Activity in Childhood and Adolescence: Implications for Adult Cancer Risk

Lifestyle factors related to energy balance, including weight, dietary behavior and physical activity, are as-sociated with cancer risk. The period of childhood and growth into adolescence and early adulthood may re-present a ‘cumulative risk’ for later adult-onset cancers. We review a number of epidemiologic studies that have examined associations among childhood and adolescent body size, diet, and physical activity with adult cancer risk. These studies suggest that unhealthy behaviors that develop early in life and persist over time may increase the risk of some cancer types, such as premenopausal breast, ovarian, endometrial, colon and renal cancer, adversely affect cancer-related morbidities, and increase mortality. Continued research is needed to further determine and refine how timing and degree of such exposures in early childhood and adolescence relate to adult cancer risk. Presently, sufficient evidence suggests a continued need for stronger primary prevention in cancer and obesity research via modified lifestyle behaviors earlier in the developmental spectrum, i.e. during childhood and adolescence.

Patient Satisfaction with Cancer Genetic Counseling: A Psychometric Analysis of the Genetic Counseling Satisfaction Scale

Satisfaction is an important patient reported outcome of genetic counseling, as it is one of the elements used by professional organizations and healthcare accrediting bodies to determine the quality of professional work. However, empirical research on patient satisfaction with genetic counseling has been limited, partly due to the lack of standardized measures available to assess this construct. The purpose of this study was to conduct a psychometric analysis of a new satisfaction measure, the Genetic Counseling Satisfaction Scale (GCSS), within a sample of women participating in a no-cost cancer genetic counseling and testing program. The sample consisted of 61 women undergoing counseling and testing for hereditary breast-ovarian cancer risk (BRCA1/2 testing) who completed the GCSS following pretest counseling. The results suggest that the GCSS was reliable (Cronbachs coefficient alpha = 0.90) and that participants were highly satisfied with the care they received. In addition, there were no differences in satisfaction between cancer genetic counseling and prenatal counseling participants (based on preexisting norms), and satisfaction did not vary by sociodemographic characteristics. Implications and recommendations are discussed.

Personality Differences Associated with Smoking Experimentation Among Adolescents with and without Comorbid Symptoms of ADHD

This study evaluated differences in adolescent personality (novelty seeking, harm avoidance, and reward dependence), lifetime cigarette smoking, and symptoms of Attention-Deficit/Hyperactivity Disorder (ADHD) among 1051 youths enrolled in several public high schools in middle Atlantic towns in the United States in 2000 and 2001. Psychological and behavioral data were obtained via self-report on the Temperament and Character Inventory (personality), standard epidemiological survey items (smoking), and the Current Symptoms Scale (ADHD). The results indicated that adolescent “ever smokers” with high-normal symptoms of ADHD had the highest novelty seeking scores compared to all other study groups. These data highlight the greater “vulnerability” to smoking that is associated with novelty seeking and symptoms of inattention and hyperactivity. To the extent that novelty seeking and ADHD share cognitive and/or behavioral elements that may negatively impact upon youths’ ability to attend to tobacco control communications, additional research on ways to adjust the delivery and content of smoking prevention and intervention program messages to meet the needs of these adolescents is warranted.