Disclosure of genetic information within families is one of the longstanding questions under scrutiny in the field of genetics. Most of the probands entrusted with family disclosure succeed in this task, but there are still many problematic cases where it proves difficult. How can professionals help probands disclose this information? What levers can they activate to foster the diffusion of genetic information within families? In the context of a new legal framework concerning this question in France, this paper offers a comprehensive view of the process of genetic counselling in a cancer genetics department. Based on an ethnographic study, it focuses on the interactions between professionals and probands during each step of the testing procedures in order to identify key times when the issue can be addressed. The results show that the question of family disclosure needs to be addressed before, during and after the test. Greater awareness of this continuum among professionals could help them foster family disclosure by supporting the probands at each stage of the testing procedure.
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http://dx.doi.org/10.1007/s10689-017-9970-4 | DOI Listing |
Obstet Gynecol
January 2025
Department of Obstetrics and Gynecology, Spencer Fox Eccles School of Medicine, University of Utah Health, Salt Lake City, Utah; the Department of Obstetrics and Gynecology, Warren Alpert Medical School at Brown University, and Women and Infants Hospital of Rhode Island, Providence, Rhode Island; the National Academies of Sciences, Engineering, and Medicine, and Baker Donelson, Washington, DC; KFF, San Francisco, California; and the Department of Obstetrics and Gynecology, Duke Cancer Institute, Duke School of Medicine, Durham, North Carolina. All authors served on the National Academies Committee as committee members or employees of the National Academies.
Despite efforts to address inequities, research on women's health conditions (defined as those that uniquely or differently affect women and female individuals) remain significantly understudied. As directed by Congress, the National Institutes of Health (NIH) Office of Research on Women's Health requested the National Academies of Sciences, Engineering, and Medicine (National Academies) to conduct an assessment of the state of women's health research at the NIH. The findings of the National Academies committee include: 1) a significant funding inequity, with less than 8% of the total NIH grant budget for fiscal year 2023 allocated to women's health research; 2) a need for improved strategic NIH-wide priority setting, oversight, and adherence to existing policies to support women's health research; 3) a need for a specific institute for research on conditions specific to women's health; and 4) a need for sufficient training and additional funding to grow and retain the women's health research workforce.
View Article and Find Full Text PDFPediatr Emerg Care
January 2025
Faculty of Nursing, University of Alberta, Edmonton, AB, Canada.
Objectives: Despite being a frequent entry point of care, it remains unknown if families' needs are being met across pediatric emergency departments (PEDs). Study objectives were to describe caregivers' perceived overall PED experience and needs and to what extent these needs were met.
Methods: This descriptive, cross-sectional survey with medical record review was conducted in 10 Canadian PEDs.
Truth-telling for terminally ill patients is a challenging ethical and social issue for Chinese health care professionals. However, despite the existence of ethical and moral standards for nurses, they frequently encounter moral dilemmas when making decisions about truth-telling to patients with end-stage diseases in China. This article aims to provide ethical strategies for clinical nurses in China regarding truth-telling decisions for terminally ill patients on the basis of their individual autonomy.
View Article and Find Full Text PDFJ Infect Dis
January 2025
Sydney Infectious Diseases Institute, The University of Sydney, Camperdown, New South Wales, Australia.
A prolonged tuberculosis outbreak, linked by whole-genome sequencing, occurred in a Pasifika extended family over 10 years (2013-2022) in Sydney, Australia. Despite Australia's low tuberculosis incidence, social and cultural complexities, and coronavirus disease 2019 (COVID-19) disruptions exacerbated transmission. Control required culturally sensitive, family-centered care and robust health system engagement.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Columbia University Irving Medical Center, New York, NY, USA.
Background: The IDEAL study is a randomized clinical trial investigating the psychosocial, behavioral, and cognitive impacts of genetic risk disclosure for late-onset Alzheimer's disease (LOAD) among Latinos.
Methods: We used address-based sampling in northern Manhattan to recruit Latinos aged 40-64 for a community-based survey and clinical trial. Data collection encompasses demographics, Alzheimer's disease (AD) family history, knowledge and beliefs about AD and genetics, current mental health status, acculturation, impact of COVID-19, familism, fatalism, caregiver status, and prior AD genetic testing.
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