Fetal Outcomes of Prenatally Diagnosed Congenital Diaphragmatic Hernia: Nine Years of Clinical Experience in a Canadian Tertiary Hospital.

OBJECTIVE: To summarize the clinical outcome of congenital diaphragmatic hernia (CDH) identified on prenatal ultrasound. METHOD: We reviewed prenatally detected cases of CDH diagnosed between July 2000 and September 2009 at a single tertiary-care facility. RESULTS: Ninety-one cases were identified. Sixty-nine cases had complete medical records including karyotype. Of these, 40 were isolated defects and 29 cases had additional congenital or chromosome anomalies. An abnormal karyotype was present in 17.4% overall, affecting 2.5% of cases of isolated CDH (1/40) and 37.9% of cases of non-isolated CDH (11/29). The rate of termination of pregnancy in cases of isolated CDH diagnosed prior to 24 weeks was 33.3% (10/30), and in cases of non-isolated CDH it was 73.9% (17/23). The survival rate of the 44 liveborn infants was 66.7% (24/36) for those with isolated CDH and 37.5% (3/8) for those with non-isolated CDH. The decision to terminate the pregnancy was made in 73.9% of fetuses with prenatally diagnosed karyotype or additional anatomical abnormalities, in contrast to 37.5% of prenatally diagnosed isolated CDH. CONCLUSION: The outcomes of pregnancies that continue after identification of CDH are in keeping with previous reports, with an overall survival rate of 61.4%. The presence of additional anatomical anomalies was the only predictor of mortality among liveborn infants.

Time to decide about risk-reducing mastectomy: a case series of BRCA1/2 gene mutation carriers.

BACKGROUND: The purpose of this research was to explore women's decision-making experiences related to the option of risk-reducing mastectomy (RM), using a case series of three women who are carriers of a BRCA1/2 gene mutation. METHODS: Data was collected in a pilot study that assessed the response of women to an information booklet about RM and decision-making support strategies. A detailed analysis of three women's descriptions of their decision-making processes and outcomes was conducted. RESULTS: All three women were carriers of a BRCA1/2 gene mutation and, although undecided, were leaning towards RM when initially assessed. Each woman reported a different RM decision outcome at last follow-up. Case #1 decided not to have RM, stating that RM was "too radical" and early detection methods were an effective strategy for dealing with breast cancer risk. Case #2 remained undecided about RM and, over time, she became less prepared to make a decision because she felt she did not have sufficient information about surgical effects. Case #3 had undergone RM by the time of her second follow-up interview and reported that she felt "a load off (her) mind now". CONCLUSION: RM decision making may shift over time and require decision support over an extended period.

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.

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.

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.

DNA-sequence patenting: National Society of Genetic Counselors (NSGC) position paper.

In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting DNA-sequences. The mandate of the group was to produce general position statements that support the perspective and needs of consumers of DNA-based genetic tests and therapies (our patients and their families) and participants in DNA-based genetic research. After review and discussion of the literature on DNA-sequence patenting issues, the working group drafted position statement points that support current United States Patent and Trademark Office (USPTO) guidelines; broad licensing of DNA-sequence patents; nonenforcement of DNA-sequence patents in noncommercial research; reasonable royalty rates; an informed consent process for research participants that discloses whether they can share in any financial rewards relating to the project; the development of guidelines for licensing of DNA-sequence patents; and the establishment of oversight organizations to monitor licensing of DNA-sequence patents. These position statements were approved by the NSGC Board of Directors in the fall of 2001.