Over a decade has passed since the clinical availability of BRCA1/2 mutation testing for Hereditary Breast and Ovarian Cancer (HBOC). The purpose of this article is to review key areas of psychosocial and behavioral research related to genetic counseling and testing for BRCA1/2 mutations. Special attention will be given to understudied issues within each of these key areas. Where appropriate, the article will also highlight the clinical and research experiences of the authors. The first area that will be reviewed is the impact of genetic testing on psychological well-being. This will be followed by a brief discussion of a practical assessment strategy for psychosocial distress in clinical settings. Next, published data on the uptake of risk management options based on genetic testing results as well as the psychosocial impact of these behaviors will be reviewed. Thirdly, research focused on understanding the decision making at various points in the genetic counseling and testing process will also be examined. Finally, the available research on genetic counseling and testing in minority communities will be presented. By recognizing and addressing the psychosocial and behavioral issues faced by patients undergoing BRCA1/2 genetic counseling and testing, researchers and providers have the potential to maximize opportunities for prevention, early detection, and healthy coping.
"While these findings are encouraging, clinicians should be aware that genomic test results may be associated with patients’ wellbeing. Especially for patients with high recurrence risk or discordant risk test results, it may be advisable to offer additional psychological counselling, as such counselling can reduce distress associated with the results of genetic tests . "
[Show abstract][Hide abstract] ABSTRACT: Gene expression profiling (GEP) is increasingly used in the rapidly evolving field of personalized medicine. We sought to evaluate the association between GEP-assessed of breast cancer recurrence risk and patients’ well-being.
Participants were Dutch women from 10 hospitals being treated for early stage breast cancer who were enrolled in the MINDACT trial (Microarray In Node-negative and 1 to 3 positive lymph node Disease may Avoid ChemoTherapy). As part of the trial, they received a disease recurrence risk estimate based on a 70-gene signature and on standard clinical criteria as scored via a modified version of Adjuvant! Online. \Women completed a questionnaire 6–8 weeks after surgery and after their decision regarding adjuvant chemotherapy. The questionnaire assessed perceived understanding, knowledge, risk perception, satisfaction, distress, cancer worry and health-related quality of life (HRQoL), 6–8 weeks after surgery and decision regarding adjuvant chemotherapy.
Women (n = 347, response rate 62%) reported high satisfaction with and a good understanding of the GEP information they received. Women with low risk estimates from both the standard and genomic tests reported the lowest distress levels. Distress was higher predominately among patients who had received high genomic risk estimates, who did not receive genomic risk estimates, or who received conflicting estimates based on genomic and clinical criteria. Cancer worry was highest for patients with higher risk perceptions and lower satisfaction. Patients with concordant high-risk profiles and those for whom such profiles were not available reported lower quality of life.
Patients were generally satisfied with the information they received about recurrence risk based on genomic testing. Some types of genomic test results were associated with greater distress levels, but not with cancer worry or HRQoL.
BMC Cancer 06/2013; 13(1):295. DOI:10.1186/1471-2407-13-295 · 3.36 Impact Factor
"Moderately elevated levels of distress characterized by depressive symptoms, anxiety, and cancer-specific worry have been observed among men and women at increased risk for familial cancer [Mueller et al., 2001; Pasacreta, 2003; Vadaparampil et al., 2006; Taylor et al., 2007]. Furthermore, a substantial proportion (over 25% in some studies) of enrollees in high-risk cancer genetic clinic programs or women awaiting cancer genetic counseling have distress levels high enough to warrant psychological counseling prior to learning their genetic test results [George et al., 2002; Braithwaite et al., 2006; Masters and Spielmans, 2007; Sivell et al., 2007]. "
[Show abstract][Hide abstract] ABSTRACT: Elevated psychological distress has been observed among people at increased risk for familial cancer. Researchers consider religiosity and spirituality (RS) to be positive coping mechanisms associated with reduced psychological distress. Relatively little is known about the impact of RS on genomic health issues. The objectives of our study were: (1) describe the prevalence of RS and depressive symptoms and (2) explore how RS relates to psychological distress in a cohort of individuals with a > or =25% prior probability of a genetic predisposition to cancer. Participants (n = 99) were drawn from an African-American, Louisiana-based kindred with a mutation at the BRCA1 locus. This analysis reports findings from a survey assessing RS and the use of three types of religious coping styles: collaborative, self-directing, and deferring. Clinically significant depressive symptoms were relatively high (27%); with females (33%) more likely than males (17%) to report symptoms (P < 0.01). The majority of participants reported being highly religious. The most commonly employed religious problem solving style used by participants was collaborative (X=22.9; SD=5.8) versus self-directing (X=12.8; SD = 5.1) and deferring (X=19.9; SD = 6.3). We did not observe significant associations between RS indicators and psychological distress, nor did we observe appreciable differences related to gender or risk perception. Although RS beliefs and practices are important for many African-Americans, we did not find evidence that indicators of self-reported RS are associated with psychological distress prior to genetic counseling and testing.
American Journal of Medical Genetics Part C Seminars in Medical Genetics 02/2009; 151C(1):13-21. DOI:10.1002/ajmg.c.30194 · 3.91 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: For newly diagnosed breast cancer patients, BRCA1/2 genetic counseling (GC) and/or testing has the greatest potential to affect treatment choices if it occurs prior to definitive surgery. This qualitative study sought to examine recently diagnosed breast cancer patients' experiences with pretest GC (n = 9). Study results show the primary reason most women attended GC was due to a family history of cancer. Most women expressed high levels of satisfaction with timing of GC regardless of whether they were referred prior to or after definitive surgical treatment. In this study, newly diagnosed breast cancer patients, particularly those who have already completed definitive surgery, may not be fully informed about the purpose and implications of BRCA1/2 GC and/or testing for treatment decisions had they been referred prior to definitive surgery for their breast cancer diagnosis. Thus, many women felt the information provided during GC had little utility with respect to their current breast cancer diagnosis.
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