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.

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.

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.

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.

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.

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.