To explore the ideas, opinions, feelings, and experiences of women regarding prenatal genetic screening, specifically maternal serum screening (MSS).Qualitative technique of focus groups.Northern, rural, inner-city, urban, and suburban communities in Ontario.Women who had given birth to babies from January 1994 to May 1996, but who were not currently pregnant (n = 60).Six focus groups composed of women living in various communities who had recently given birth to babies explored the experience of MSS.Women want informed choice about prenatal genetic screening. Three factors influenced women's decisions to undergo or decline prenatal genetic screening: their personal values, including their philosophy of life, moral, and religious values, and attitudes regarding Down syndrome and disability; social support including their partners, families, and friends; and quality of information from health care providers. Women want their providers to give them information personally; they want to receive the information as early as possible in prenatal care to allow time for reflection; and they want unbiased, accurate information in order to make a decision that is in keeping with their personal values and beliefs.Knowledge of women's ideas, opinions, feelings, and experiences regarding MSS suggests specific ways health care providers can facilitate informed decision making in prenatal screening. Providing information about genetic testing needs to be individualized, with women actively participating in the decision-making process. Information needs described by these women could apply to other prenatal genetic tests that might be available in the future.
Abstract Background Sudden cardiac death (SCD) is a devastating event and a leading cause of mortality, globally. In the young (2-45 years), SCD is often attributable to a heritable cardiac condition. Death investigators are often responsible for investigating the cause of death and communicating their results and risk of heritable cardiac conditions with family members of SCD victims. Family often struggles to comprehend the information that is communicated to them. Purpose To understand the delivery, reach and impact of communication strategies informing family members of SCD victims about their relative’s cause of death and their own risk for heritable cardiac conditions. Methods We conducted an explanatory sequential mixed methods study. We collected quantitative data via a web-based survey and qualitative data via telephone interviews to investigate how death investigators in Ontario and Nova Scotia, Canada, communicate with family members of SCD victims. We used descriptive statistics to analyze the survey data and thematic analysis to analyze the qualitative data. We triangulated data at multiple levels. Results Between October 2022 and July 2023, we surveyed 78 death investigators and interviewed a subset (n=20). Death investigators reported that SCDs due to suspected heritable cardiac conditions were more difficult (40%, n=31) or slightly more difficult (35%, n = 27) to investigate, often requiring a higher frequency of communication with families. Death investigators reported contacting family members via phone (n=75, 96.1%) and used various strategies to achieve their communication goals. Strategies were influenced by family characteristics; involvement of other professionals; characteristics of the investigation, access to resources, and system-level barriers. Conclusion SCD investigations in the young due to suspected heritable cardiac conditions were more challenging and required a higher frequency of communication. Death investigators used various strategies to achieve their communication goals. Further research should examine how systematic changes can improve communication with family members. What is Known? Sudden cardiac death (SCD) is a devastating and unexpected event that can be caused by heritable cardiac conditions, putting the decedents family at risk of SCD. Communication with death investigators and other health care professionals influences families’ experiences learning about the cause of death and about their risk for heritable cardiac condition. What this Study Adds According to death investigators, SCD cases due to suspected heritable cardiac conditions are more difficult to investigate, require a higher frequency of communication with family members than other types of cases, and benefit from using different communication modalities. Despite their best intentions, death investigators are contending with many factors beyond their control that influence how communication with family members is carried out. Provincial death investigation systems alone do not currently provide families of SCD victims with sufficient communication, as families often seek external resources.
Preimplantation genetic diagnosis (PGD) involves producing fertilized oocytes in vitro, which are then cultured until they reach the 8-cell blastomere stage. A single cell is removed from the embryo and tested for a specific genetic disease or chromosome abnormality. The embryos that have negative
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.
