Agnes Masny

Attitudes about genetic testing for breast-ovarian cancer susceptibility.

PURPOSE In anticipation of the availability of genetic testing for a breast-ovarian cancer susceptibility gene (BRCA1), this study examined interest in and expectations about the impact of a potential genetic test. PATIENTS AND METHODS The subjects were 121 first-degree relatives (FDRs) of ovarian cancer patients. The design was cross-sectional. Subjects completed a structured telephone interview of attitudes about cancer and genetic testing, and self-report psychologic questionnaires to assess coping style and mood disturbance. RESULTS Overall, 75% of FDRs said that they would definitely want to be tested for BRCA1 and 20% said they probably would. In bivariate analyses, interest was associated positively with education, perceived likelihood of being a gene carrier, perceived risk of ovarian cancer, ovarian cancer worries, and mood disturbance. In logistic regression analysis, perceived likelihood of being a gene carrier was associated strongly with interest (odds ratio, 3.7; P = .006). Results of stepwise linear regression modeling indicated that an anticipated negative impact of genetic testing was associated with being younger (beta = -.66, P = .009), having more mood disturbance (beta = .015, P = .01), and having an information-seeking coping style (beta = .19, P = .002). CONCLUSION These results suggest that the demand for genetic testing for BRCA1 among FDRs of cancer patients may be great. Moreover, those who elect to participate may represent a more psychologically vulnerable subgroup of high-risk women.

Coping disposition, perceived risk, and psychological distress among women at increased risk for ovarian cancer.

The authors examined predictors of psychological distress among women who were at increased risk for ovarian cancer. Participants were 103 women who had at least 1 first degree relative with ovarian cancer. Specifically, the authors tested the relationship between the dispositional attentional style of monitoring (the tendency to scan for threat-relevant information), perceptions of risk for ovarian cancer, intrusive thoughts regarding ovarian cancer, and psychological distress. Overall, this sample exhibited moderately high levels of psychological distress. High scores on monitoring were associated with high perceived risk for ovarian cancer and elevated levels of intrusive thoughts and psychological distress. Finally, the authors proposed and tested a path model describing the interrelationships between these variables. The results of this study are discussed in terms of their implications for treating the psychological distress associated with being at increased risk for ovarian cancer.

Gail model breast cancer risk components are poor predictors of risk perception and screening behavior

SummaryThe Gail model is being used increasingly to determine individual breast cancer risk and to tailor preventive health recommendations accordingly. Although widely known to the medical and biostatistical communities, the risk factors included in the model may not be salient to the women to whom the model is being applied. This study explored the relationship of the individual Gail model risk factors to perceived risk of breast cancer and prior breast cancer screening among women with a family history of breast cancer. Data from baseline interviews with 969 women found a striking disparity between the objective risk factors included in the model and the accuracy of perceived risk and screening behaviors of this population, particularly among women over the age of 50 years.Risk perception accuracy was unrelated to all of the Gail model risk factors for all age groups. Reported mammography adherence was only associated with having had a breast biopsy in both age groups. Breast self examination (BSE) practice was independent of all measured factors for both age groups. These findings support the need for further research to identify additional determinants of risk perception and motivators of screening behavior.

Core competencies in cancer genetics for advanced practice oncology nurses

PURPOSE/OBJECTIVES To determine core competencies in cancer genetics for advanced practice nurses (APNs) in oncology. DESIGN Survey. SAMPLE Expert panel of 9 nursing educators or researchers, 9 general genetics experts, 9 genetics experts with specialties in oncology, and 10 oncology APN nurse consumers (N = 37). METHODS Utilizing the Delphi Technique, two rounds of surveys were conducted. Round 1s survey required open-ended responses to identify skills, attitudes, and competencies specific to cancer genetics. Round 2 requested ranking of the importance of identified competencies. MAIN RESEARCH VARIABLES Skills, attitudes, and competencies specific to cancer genetics. FINDINGS Recommended genetics competencies and knowledge for oncology APNs were identified for the categories of direct caregiver (6 items), coordinator (6 items), consultant (7 items), educator (6 items), researcher (8 items), and professional attitudes (16 items). CONCLUSIONS Identified competencies provide a foundation and direction for development of the education curriculum recommended for all practicing oncology APNs. IMPLICATIONS FOR NURSING Integrating genetic concepts into clinical practice is essential. Oncology APNs must have an expanded knowledge base in genetics to enable them to incorporate advances in genetics into practice to ensure quality outcomes. Development of genetics education is crucial to ensure future competency. Research that determines the impact of such education is warranted

Establishing the Outcome Indicators for the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics

The translation of genetics/genomics to clinical care has implications for nurses. The Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics, established by consensus, apply to all registered nurses. Learning outcomes and clinical practice indicators have been developed to provide additional guidance. The Essentials Advisory Group (EAG) established a team to establish the Outcome Indicators. A draft was developed based on published peer-reviewed documents and syllabi. The draft underwent three layers of review: (a) critique by the EAG; (b) review by representatives at a Genetics/Genomics Toolkit for Faculty meeting; and (c) review by workshop attendees of the American Association of Colleges of Nursings baccalaureate and masters education conferences, followed by EAGs final approval. Outcome Indicators clarify specific knowledge areas and suggest clinical performance indicators for each competency. They provide the foundation to establish a competency-based education repository with outcome indicator mapping matrixes for genetic/genomic education resources. A gap analysis of education resources identified resource deficits, and online unfolding case studies were developed. Outcome Indicators assist the academic and continuing education nurse community to prepare the nursing workforce in genetics/genomics and provide a platform from which to build tools needed to achieve this goal.

How to establish a high-risk cancer genetics clinic: Limitations and successes

The development of technology to locate and isolate cancer susceptibility genes has brought together the fields of oncology, cancer control, genetics, and genetic counseling to create a new specialty of cancer risk counseling with the goal to communicate more accurate information about personal cancer risk profiles based on personal and family histories. As cancer risk assessment and counseling services become standard of care in medical practice, their availability is increasingly moving from comprehensive cancer centers and academic institutions to community settings. High-risk cancer genetics clinics in the community face several challenges, including staffing, time commitment, costs, and unique quality control issues. The societal benefits include a more educated public armed with the information needed to make health decisions appropriate for the individual level of risk.

Why Should Oncology Nurses Be Interested in Genetics

The Human Genome Project began in 1990 as an international effort to characterize human genetic instructions (the human genome) by creating a genetic map that reflects the position of genes on chromosomes. Scientists have completed a draft map of the human genome (International Human Genome Sequencing Consortium, 2001; Venter et al., 2001). Over the next decade, work will continue with computer technology to further identify genes associated with disease and the potential for interventions in risk reduction or targeted therapeutics. In response to these advances, the National Cancer Institute (1998) established the Genome Anatomy Project to identify all the genes responsible for cancer development and malignant transformation. In the field of oncology, this project signals a dramatic shift in the way that patients will be screened, diagnosed, and treated. Oncology nurses will be required to know about genetics to understand the basic etiology of cancer. The most simplistic definition of cancer is uncontrolled cell growth. People familiar with the discoveries of the Human Genome Project now understand that cancer is clearly a genetic disease. Genes are units of deoxyribonucleic acid (DNA). The genes code for normal proteins, which regulate cell growth. Damage (mutation) frequently occurs during normal cell division or as a result of environmental influences. When genetic damage escapes the normal repair mechanisms of the body, the mutations accumulate, resulting in uncontrolled cell growth. Most cancers occur because of multiple mutations involving several genes at each step in the carcinogenic pathway. Oncology nurses know that the carcinogenic pathway involves five steps: initiation, promotion, progression, invasion, and metastasis. The identification of the genes related to each step in the pathway will have a dramatic impact on oncology interventions. Thus, the increasing understanding of the genetic basis of cancer and the effect that understanding will have on treatment modalities will sweep oncology nursing into a new healthcare paradigm (Engelking, 1997).

Abstract 3676: The use of r-hCG changes the transcriptome profile of nulliparous women carrying BRCA1 mutation

Nulliparity and inheritance of BRCA1 or BRCA2 mutations are conditions associated with a greater risk of developing breast cancer. The knowledge that early parity reduces a woman9s lifetime cancer risk and the demonstration in preclinical studies that the protective effect of pregnancy is mediated by the differentiation of the breast, which is manifested as permanent changes in the genomic/transcriptomic profile of this organ, led us to hypothesize that the transcriptomic profile of breast tissue of nulliparous BRCA1 mutation carriers would revert from high risk to lower risk after a short treatment with recombinant human chorionic gonadotropin (r-hCG). For this purpose we designed a pilot study for determining whether treatment of sexually mature, from 20 to 40 years of age, nulliparous women carriers of BRCA1 mutations with the r-hCG changes their breast epithelium9s genomic profile to one similar to that identified in cancer-free postmenopausal women with a history of full term pregnancy. After signing an informed consent form, eligible candidates received 250 micrograms r-hCG applied as a subcutaneous injection 3 times a week for 12 weeks. Before initiation of treatment (T0), at the end (T12), and 24 weeks post-treatment (T24) a breast core needle biopsy (CNB) was performed by the study surgeon. In this proof of concept, tissues obtained from two volunteers were divided for histopathological and RNA analyses. Total RNA was extracted, prepared for hybridization using Two-Cycle Target Labeling and Control Reagents kits from Affymetrix, and hybridization to Affymetrix Human Genome U133 Plus 2.0 chips. The chips were analyzed using GeneSpring GX v11.0 software (Agilent Technologies). Comparison of gene expression between T0 and T24 revealed 425 probes (254 up- and 171 down-regulated), representing 349 unique differentially expressed genes (p-value Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 102nd Annual Meeting of the American Association for Cancer Research; 2011 Apr 2-6; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2011;71(8 Suppl):Abstract nr 3676. doi:10.1158/1538-7445.AM2011-3676