Heidi A. Hamann

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.

Genetic testing for a BRCA1 mutation: Prophylactic surgery and screening behavior in women 2 years post testing

Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer in carrier women. An understanding of behavioral responses to BRCA1 mutation testing by mutation carriers and non‐carriers is important to guide the clinical application of this new technology. This study examined the utilization of genetic testing for a BRCA1 mutation in high‐risk individuals and the response of tested women with respect to interventions for early cancer detection and prevention. This study assessed the utilization of genetic testing for both men and women in a large kindred and the behavioral responses by women with respect to use of health care interventions during the 2 years following testing. Participants were offered BRCA1 mutation testing. Surveillance behaviors related to breast and ovarian cancer were assessed by computer‐assisted telephone interviews at baseline (prior to genetic counseling and testing), 1–2 weeks, 4–6 months, 1 and 2 years after the provision of test results. Mutation carriers, non‐carriers, and individuals of unknown mutation status were compared to determine the impact of test results. Utilization of genetic testing for both men and women are reported and, for women, mammography, breast self‐exam, clinical breast exam, mastectomy, oophorectomy, transvaginal ultrasound, and CA125 screening were assessed. Of those fully informed of the opportunity for testing, 55% of the women and 52% of the men pursued genetic testing. With respect to mammography for women 40 years and older, 82% of mutation carriers obtained a mammogram in each year following testing compared to 72% of non‐carrier women the first year and 67% the second year. This mammography utilization represents a significant increase over baseline for both mutation carriers and non‐carriers. Younger carrier women also significantly increased their mammography utilization from baseline. Overall, 29% of the carrier women did not obtain a single mammogram by 2 years post‐testing. At 2 years, 83% of the carrier women and 74% of the non‐carriers reported adherence to recommendations for breast self‐exam and over 80% of carrier women had obtained a clinical breast examination each year following testing. None of the carrier women had obtained a prophylactic mastectomy by 2 years after testing, although 11% were considering this procedure. Of carrier women 25 years of age and older who had at least one intact ovary at the time of testing, 46% of carriers had obtained an oophorectomy 2 years after testing, including 78% of women 40 years of age and older. The majority of carrier women (73%) had discussed their genetic test results with a medical doctor or health care provider. Our results indicate utilization of genetic testing by a majority of high‐risk individuals who received information about testing. Both carriers and non‐carriers increased their utilization of mammography and breast self‐exam following testing. Oophorectomy was obtained by a large proportion of carrier women in contrast to mastectomy which was not utilized within the first 2 years following testing.

Attitudes Toward the Genetic Testing of Children Among Adults in a Utah-Based Kindred Tested for a BRCA1 Mutation

Advances in molecular biology and genetics have led to the identification of the breast/ovarian cancer susceptibility genes BRCA1 and BRCA2, along with tests to detect mutations in these genes. Although the appropriateness of BRCA1/2 genetic testing for children has been debated in the literature, little is known about the attitudes of individuals who have undergone cancer susceptibility testing. The present study focused on attitudes toward BRCA1 testing for children among 218 adults from a Utah-based kindred who had received BRCA1 test results. Results indicated that approximately one-fourth of the participants would permit BRCA1 testing for children under the age of 18. General attitudes about genetic testing were predictive of attitudes toward the testing of children. In addition, men and individuals without a BRCA1 mutation were more likely to agree that minors should be allowed BRCA1 testing. Individuals whose mother had been affected with breast cancer were less likely to permit testing for minors. Among parents of minor children, less than one-fifth indicated that they would want BRCA1 testing for their own children; carrier status was not predictive of attitudes toward testing their own children. As breast/ovarian cancer susceptibility testing continues to be disseminated into clinical settings, there may be an increase in the number of test requests for minors. The findings of the present study represent an important step in exploring attitudes about genetic testing of children among individuals who have received cancer susceptibility test results.

In Sickness and In Health: Interpersonal Risk and Resilience in Cardiovascular Disease

Charles Jacobs and his wife were going through their normal Saturday morning routine when he experienced sudden and severe chest pressure, radiating pain, nausea, and shortness of breath. Mrs. Jacobs quickly called for paramedics before returning to monitor and comfort her husband while experiencing her own emotional reactions. In the days that followed, Mr. Jacobs was diagnosed with CAD and significant occlusion in several vessels. He underwent coronary artery bypass grafting (CABG) surgery and was given a post-surgical regimen of medications, exercise, and diet before being discharged a week after the initial event. Due to the surgical incision and recovery process, Mr. Jacobs must adhere to a number of behavioral restrictions, which limit his ability to do household chores, drive a car and go to his job (he is an independent auto mechanic). In addition to his health and medical regimen concerns , Mr. Jacobs struggles with worries about his family’s financial situation. He is also concerned about the prospect of being a burden to his wife, who must help in his care while managing their household and family. Mrs. Jacobs has always been somewhat of a worrier, and this incident has left her concerned about her husband’s health and the possibility of life without him. Now her day revolves around her husband, watching what he eats and how he takes his medications, asking him to “slow down,” and vigilantly monitoring for signs of physical problems. In response to his wife’s concerns, Mr. Jacobs tries to convince her of his health by pushing himself to resume his normal activities, while denying his own concerns and suppressing any illness behaviors.

The Hispanic health paradox: From epidemiological phenomenon to contribution opportunities for psychological science:

Similar to non-Hispanic Blacks, Hispanics/Latinos experience a range of psychosocial and physical health challenges, including high rates of poverty, neighborhood segregation, discrimination, poor healthcare access, and high rates of obesity, diabetes, and undiagnosed and late-stage diagnosed diseases. Despite such risks, Hispanics generally experience better physical health and lower mortality than non-Hispanic Whites, an epidemiological phenomenon commonly referred to as the Hispanic or Latino health paradox. With the basic phenomenon increasingly well-established, attention now turns to the sources of such resilience. The current aims are to briefly examine the epidemiological paradox and highlight potential sociocultural resilience factors that may contribute to the paradoxical effects. We conclude with presentation of a framework for modeling sociocultural resilience and discuss future directions for psychological contributions.

Interest in a Support Group Among Individuals Tested for a BRCA1 Gene Mutation

Abstract This article explores interest in a support group among 218 individuals tested for a mutation in BRCA1, a breast and ovarian cancer susceptibility gene. When queried 4 to 7 months after receiving the BRCA1 test results, approximately one-fourth of the participants expressed interest in a hypothetical support group. A mixed-carrier status and multiple family group was preferred over a carrier-only and single family group. The information about interest in a support group among individuals tested for a BRCA1 mutation represents an important step in identifying those who are most receptive to psychosocial interventions.

Interpersonal Responses Among Sibling Dyads Tested for BRCA1/BRCA2 Gene Mutations

OBJECTIVE The familial context plays an important role in psychosocial responses to genetic testing. The purpose of this study was to compare sibling pairs with different combinations of BRCA1/BRCA2 test results on measures of affect, interpersonal responses, and physiological reactions. DESIGN Forty-nine sibling dyads with different combinations of BRCA1/BRCA2 test results (i.e., mixed, positive, negative) completed a questionnaire, and 35 of the dyads also participated in a laboratory-based discussion of genetic testing. MAIN OUTCOME MEASURES The primary outcome variables included participant reports of supportive actions toward their sibling, state anger and anxiety, perceptions of sibling behavior, and electrodermal responses. RESULTS Compared to positive and negative dyads, mixed pairs reported less friendly general support actions, noted more anger, and perceived their sibling to be less friendly and more dominant during the interactions. In comparisons between same-result (i.e., positive, negative) pairs, positive dyads reported more dominant support behaviors and perceived their sibling to be friendlier during the interactions. CONCLUSION Data suggest that siblings who have different test results may experience more interpersonal strain than siblings who have the same test result. Future research on genetic testing and family relationships can expand upon these findings.

Contesto interpersonale e qualità della relazione di coppia come fattore di protezione/rischio in pazienti con malattia cardiaca

Il concetto di relazione implica l’esistenza di un rapporto o legame tra due o piu fenomeni. Nello specifico, le relazioni interpersonali riguardano i rapporti che s’instaurano tra persone in virtu di uno scambio reciproco che alimenta il legame stesso. Etimologicamente1, il termine relazione deriva da relatum, participio passato del verbo latino referre, che letteralmente significa “portare indietro”, ma anche “ricambiare”, “ripetere”, “rinnovare”. La specificita della relazione e quindi la dimensione temporale, in altre parole, il fatto che il legame si mantiene e si rinnova nel tempo attraverso uno scambio. La relazione tra due persone e cosI il risultato dell’incontro tra elementi del passato (le caratteristiche individuali e la storia personale dei soggetti, le interazioni passate), del presente (le interazioni attuali, gli stati emotivi presenti) e del futuro (le relazioni creano aspettative).

Attitudes and Stereotypes in Lung Cancer versus Breast Cancer.

Societal perceptions may factor into the high rates of nontreatment in patients with lung cancer. To determine whether bias exists toward lung cancer, a study using the Implicit Association Test method of inferring subconscious attitudes and stereotypes from participant reaction times to visual cues was initiated. Participants were primarily recruited from an online survey panel based on US census data. Explicit attitudes regarding lung and breast cancer were derived from participants’ ratings (n = 1778) regarding what they thought patients experienced in terms of guilt, shame, and hope (descriptive statements) and from participants’ opinions regarding whether patients ought to experience such feelings (normative statements). Participants’ responses to descriptive and normative statements about lung cancer were compared with responses to statements about breast cancer. Analyses of responses revealed that the participants were more likely to agree with negative descriptive and normative statements about lung cancer than breast cancer (P<0.001). Furthermore, participants had significantly stronger implicit negative associations with lung cancer compared with breast cancer; mean response times in the lung cancer/negative conditions were significantly shorter than in the lung cancer/positive conditions (P<0.001). Patients, caregivers, healthcare providers, and members of the general public had comparable levels of negative implicit attitudes toward lung cancer. These results show that lung cancer was stigmatized by patients, caregivers, healthcare professionals, and the general public. Further research is needed to investigate whether implicit and explicit attitudes and stereotypes affect patient care.

Successful use of peer educators for sharing genetic information.

This study examined the impact of a genetics education module provided by Reach to Recovery peer volunteers. Participants included 113 women with confirmed breast cancer diagnoses. Eighty-eight of these women (78%) completed a baseline survey, participated in a peer-led intervention, and completed a follow-up survey. Approximately half of the women received an education module that included a genetic component, while the other half did not. Results indicated that women who received the genetics module had greater increases in genetics knowledge than the group that did not receive the module. However, follow-up interest in genetic testing was not significantly different between the two groups. Results indicate that a peer-led genetics module can increase knowledge about genetics. However, it does not appear to have a differential effect on genetic testing interest.