Mapping the human genome: psychosocial impacts and implications for nursing.
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Canada↗
Biomedical subjects
Mary Jane Esplen
Publications and source records attributed to Mary Jane Esplen.
The educational needs and professional roles of Canadian physicians and nurses regarding genetic testing and adult onset hereditary disease.
OBJECTIVE: To investigate the knowledge, professional involvement and confidence of Canadian nurses and physicians in providing genetic services for adult onset hereditary disease. METHODS: 1,425 physicians and 1,425 nurses received a mailed questionnaire with reminders. The response rates were 50% (n = 543) and 79% (n = 975), respectively. RESULTS: Forty-eight percent of physicians and 31% of nurses lacked formal education in genetics. Respondents reported being involved in caring for people at risk for adult onset hereditary disease. Their levels of confidence that they could perform tasks, such as counselling about predictive genetic tests, however, were lower than their levels of expectation that it would be important for them to provide these services. CONCLUSIONS: The expected roles and educational needs of Canadian nurses and physicians have broad areas of overlap suggesting the possibility of combined professional education programs and multiple ways of organizing teams to provide genetic services to people at risk for adult onset hereditary disease.
Age Factors↗
Canadian nursing in the genomic era: a call for leadership.
With developments in genomics, there is an urgent need for Canadian nurses in all settings to be informed and involved in the incorporation of this new knowledge into healthcare. The purpose of this paper was to synthesize the literature on genetic nursing roles to provide a foundation for Canadian nursing leaders as they take on the challenges of nursing in the genomic era. A comprehensive review of 98 articles published between 1994 and 2004 revealed strong support for genetic nursing roles and recommendations for levels of genetic nursing practice. The few studies on genetic nursing roles suggested that nurses and other health professionals support the integration of genomics into nursing practice. Issues that need to be addressed related to nursing practice, education and research are offered to engage nursing leaders in advocating for the incorporation of genomics into nursing in Canada.
Canada↗
Establishing roles in genetic nursing: interviews with Canadian nurses.
The purpose of this qualitative study was to describe nurses' roles in providing clinical genetic services related to adult onset hereditary disease and factors that influence genetic nursing practice in Canada. The study involved semi-structured telephone interviews with 22 nurses from 5 Canadian provinces with full-time or part-time roles in providing genetic services. The interviews included open-ended questions to elicit descriptions of genetic nursing roles and factors that support and limit opportunities in genetic nursing practice. Thematic analysis of the transcribed interviews revealed that, in addition to genetic counselling, the nurses reported a wide range of roles and responsibilities related to the provision of genetic services that drew directly on their nursing background (e.g., patient assessment, health promotion). Factors identified as supporting genetic nursing roles included nursing background, being part of a multidisciplinary team, and receiving mentorship. Challenges in establishing roles in genetic nursing were related to role ambiguity, lack of recognition of nursing expertise, limited availability of genetics education, isolation, and instability of nursing positions. Recommendations to support the development and expansion of genetic nursing practice were identified. A coordinated national effort among all stakeholders is needed to provide the resources necessary to support the appropriate and effective use of nursing expertise as genetics is integrated into the Canadian health-care system.
Adult↗
A multicenter study of supportive-expressive group therapy for women with BRCA1/BRCA2 mutations.
BACKGROUND: Women with a BRCA1/BRCA2 mutation experience significant challenges. These include decision-making regarding surgical options and notification to offspring and family, along with a sense of isolation, which may lead to psychological and emotional distress. The current study developed, standardized, and conducted preliminary testing of a supportive-expressive group therapy intervention designed to address these challenges. METHODS: Seventy women with a BRCA1/BRCA2 mutation recruited from familial cancer risk clinics participated in 12 sessions of supportive-expressive group therapy that lasted 6 months. Before and after measures of psychosocial functioning, knowledge, and surveillance/surgery activities were completed. RESULTS: Sixty-seven women completed the intervention. Significant improvements were observed in psychosocial functioning: cancer worries (P = 0.005), anxiety (P = 0.033), and depression (P = 0.015). Knowledge level and surveillance levels were high at baseline and there were no significant changes postintervention. A significant number of women made decisions concerning prophylactic surgery (oophorectomy/mastectomy) during and after the intervention. CONCLUSIONS: The feasibility of a supportive-expressive group for BRCA1/BRCA2 mutation carriers was demonstrated. Findings from the study are consistent with an effective intervention. However, further research is required using a randomized controlled study design.
Adolescent↗
Quality of life in adults diagnosed with familial adenomatous polyposis and desmoid tumor.
PURPOSE: The purpose of this study was to examine the health-related quality of life in a sample of Canadian adults diagnosed with familial adenomatous polyposis and desmoid tumor. METHODS: The study was conducted in two parts. Seven individuals participated in a focus group prior to a mail-out survey. A cross-sectional mail-out survey was administered to eligible individuals who were actively followed at the Familial Gastrointestinal Cancer Registry at Mount Sinai Hospital. RESULTS: Forty-one individuals (25 female and 16 male) were available to be contacted by the registry coordinator and 23 questionnaire packages were completed, resulting in a 56.1 percent participation rate. The results of this study demonstrated a reduced health-related quality of life for individuals living with familial adenomatous polyposis and desmoid tumor for over 10 years. The main predictors of health-related quality of life in this analysis included marital status (married vs. not married), prior knowledge of desmoid tumor in the family, and current level of hopelessness (R(2) = 0.856, df = 13, F = 26.8, P < 0.001). The qualitative content analysis of themes from the focus group indicated that ongoing medical uncertainty and lack of information from health care professionals, isolation, and family communication were the main challenges in living with desmoid tumors. CONCLUSIONS: The findings from this study suggest that ongoing education of health care professionals is warranted and that information and support interventions may be beneficial to this clinical population.
Adenomatous Polyposis Coli↗
An investigation of the disclosure process and support needs of BRCA1 and BRCA2 carriers.
Disclosure of the results of a positive genetic mutation to offspring can be challenging. The purpose of this study was to investigate the content and process of disclosure from BRCA1/2 carriers to their offspring. A semi-structured questionnaire focused on the disclosure processes between parent and offspring. Thirty-one/40 mothers with BRCA1/2 mutations completed the cross-sectional survey. Sixteen carriers (51.6%) chose to disclose their results to all of their children, thirteen carriers (41.9%) chose not to disclose their results, and two carriers (6.5%) chose to disclose to some of their children. The age of a child appeared to be the most significant contributing factor in the decision to disclose. The mean age of the offspring who learned of the positive test result was 24.3 years with most carriers advocating the ideal age range for disclosure from 19 to 25 years. There was a discrepancy between actual and potential disclosure topics between those who had disclosed and those who had not disclosed at the time of the survey. Women who disclosed their result tended to do so alone, within a week of learning their own results, equally to male and female offspring and expressed that the relationships between themselves and their children had strengthened since revealing the presence of a genetic mutation in the family. Women who had not disclosed the results of their genetic test to offspring were significantly more interested in receiving additional individual counseling, educational videos, and email newsletters that focus on disclosure of this complex and life altering information compared to those who had already disclosed. Disclosure of BRCA1/2 results is determined primarily by age of offspring, is usually done by women alone, relatively soon after receiving results and appears to enhance the relationships between mothers and offspring. Both disclosed and non-disclosed carriers demonstrated significant interest in a variety of interventions to support the disclosure process.
Adolescent↗
Psychosocial functioning in women who have undergone bilateral prophylactic mastectomy.
The purpose of this study was to determine the current psychosocial functioning of women who had previously had a bilateral prophylactic mastectomy. Women in the province of Ontario who had undergone prophylactic mastectomy between 1991 and 2000 were asked to complete questionnaires that assessed psychological distress, sexual activity, overall satisfaction with decision to have a prophylactic mastectomy, and body image. Ninety-seven percent of the women were satisfied with their decision to have a prophylactic mastectomy, but young women (<50 years) were less likely to report satisfaction than older women (p=0.001). Women with a strong family history of breast cancer or a BRCA1 or BRCA2 mutation experienced more cancer-related distress than those with a limited family history. Women who had reconstruction following mastectomy reported higher levels of satisfaction with general body shape and appearance than those without reconstruction. In conclusion, the majority of women were satisfied with their decision to undergo prophylactic mastectomy and were not experiencing abnormal levels of psychological distress, low levels of sexual activity, or difficulties with body image.
Adaptation, Psychological↗
Reasons given by relatives of colorectal cancer patients for not undergoing screening.
BACKGROUND: Relatives of colorectal cancer (CRC) patients are at increased risk of developing CRC themselves. Although this increased-risk group could benefit from screening, many do not undergo screening. Little is known about the reasons why this group chooses not to be screened, and understanding these reasons has implications for the development of tailored interventions. METHODS: Telephone interviews were conducted with 132 nonscreening relatives of CRC patients. Variables collected included reasons for not screening, intent to be screened in the future, potential prompts to future screening, and perceived benefits and barriers to screening as well as perceived CRC risk. RESULTS: We were able to categorize the majority of nonscreeners into four discrete types: a group who cite feeling healthy as their reason for not screening (n = 40), a group whose physicians have not endorsed screening (n = 18), a younger group who were told to wait to be screened (n = 21), and a group who anticipate discomfort and pain with screening (n = 20). CONCLUSIONS: It is possible to identify distinct groups of nonscreeners according to their particular barriers and reasons for not screening. Tailored interventions can be designed to address the specific issues in each of these groups.
Adult↗
The experience of loss and anticipation of distress in colorectal cancer patients undergoing genetic testing.
OBJECTIVE: The purpose of this paper is to describe pretest psychological functioning in a sample of colorectal cancer (CRC) patients undergoing genetic testing. We also explored the relationship among demographic, medical, family history and loss variables and current pretest distress, and those related to anticipated posttest distress. METHODS: This paper reports pretest findings from a prospective, longitudinal psychosocial survey. Data are presented on 220 CRC patients at pretest. RESULTS: We found a subgroup of CRC patients that are currently distressed and anticipate becoming depressed if they receive a positive genetic test result. There were significant associations among pretest distress, family history of CRC and loss related to CRC and anticipation of becoming depressed at posttest. CONCLUSIONS: The findings suggest that a subgroup of CRC patient's experience or anticipate distress that may warrant attention. Family history of CRC and losses related to CRC may be important indicators of posttest adjustment.
Adaptation, Psychological↗
Relatives of colorectal cancer patients: factors associated with screening behavior.
BACKGROUND: The purpose of this study was to identify whether decisions regarding colorectal cancer (CRC) screening by relatives of CRC patients are influenced by social interactions with family members, friends, and physicians or by public awareness campaigns. METHODS: Screened (n=236) and nonscreened (n=132) relatives of CRC patients were interviewed in 2001. A socioecologic model was used as the framework for the interview variables, which included interactions with relatives, medical professionals, and social groups, as well as perceived benefits and barriers to screening and perceived susceptibility. RESULTS: Physician encouragement, fewer barriers to screening, strong CRC family history, encouragement from relatives, advice from a surgeon, and discussion of CRC screening with social groups were all associated with ever having been screened. Having been encouraged by a physician was the strongest correlate of screening behavior. Perceived susceptibility to CRC, advice from family members, and exposure to public awareness information were not associated with screening. CONCLUSIONS: The socioecologic framework is a good explanatory model of CRC screening in increased-risk relatives, as variables from each level were associated with screening. These findings can guide interventions aimed at increasing screening uptake, particularly those involving physicians.
Adult↗
Predictors of quality of life in women with a bilateral prophylactic mastectomy.
The purpose of this study was to assess the quality of life in women who had previously undergone a bilateral prophylactic mastectomy and to determine what factors predict quality of life in this population. Women in Ontario who had undergone prophylactic mastectomy between 1991 and 2000 were asked to complete several questionnaires that assessed current psychosocial functioning, including the Quality of Life Index (QLI). The mean score for the QLI was 23.34 (range 9.53-30.00). QLI scores were negatively correlated with cancer-related distress, body image difficulties, and psychological distress. Conversely, QLI scores were positively correlated with social support. Significant predictors of quality of life included psychological distress and one subscale of body image (vulnerability). Vulnerability and psychological distress are important predictors of quality of life in women who have previously undergone bilateral prophylactic mastectomy.
Adult↗