Objectives: Disclosure of a hereditary condition in the family poses notable challenges for patients who often seek the assistance of genetic health professionals (GHPs). This study aimed to investigate GHPs' opinions about the ideal time for disclosure to offspring and their responsibility to at-risk relatives.
Design: Cross-sectional qualitative study.
Setting: Genetic familial cancer clinics related to mostly secondary and tertiary care hospitals and centres in urban, regional and rural areas across all states of Australia.
Participants: GHPs (N=73) including clinical geneticists, genetic counsellors, medical specialists, nurses, surgeons and mental health specialists (eg, psychiatrists, psychologists) who had worked with and families for an average of 9 years.
Results: Focus groups and interviews were transcribed and analysed thematically. GHPs perceived that life stage, maturity, parents' knowledge and capacity to disseminate information influenced parent-offspring disclosure. In general, GHPs recommended early informal conversations with offspring about a family illness. GHPs considered that facilitation of disclosure to relatives using counselling strategies was their responsibility, yet there were limitations to their role (eg, legal and resource constraints). Variability exists in the extent to which genetic clinics overcome challenges to disclosure.
Conclusions: GHPs' views on the ideal time for the disclosure of genetic risk are generally dependent on the patient's age and relative's ability to disclose information. A responsibility towards the patient and their at-risk relative was widely accepted as a role of a GHP but views vary depending on legislative and specialty differences. Greater uniformity is needed in genetic procedural guidelines and the role of each discipline (eg, geneticists, genetic counsellors, oncologists, nurses and mental health specialists) in genetic clinics to manage disclosure challenges.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045026 | PMC |
http://dx.doi.org/10.1136/bmjopen-2019-033127 | DOI Listing |
Int J Pediatr Otorhinolaryngol
January 2025
Otorhinolaryngology Department, Faculty of Medicine, Menoufia University, Menoufia, Egypt; Medicine and Surgery Program, Menoufia National University, Menoufia, Egypt. Electronic address:
Purpose: Familial Mediterranean fever (FMF) is the most prevalent genetic autoinflammatory disease worldwide. There are several novel advancements in pathophysiology, genetic testing, diagnosis, comorbidities, disease-related damage, and treatment strategies. This study aimed to assess the effect of tonsillectomy on FMF disease severity and activity.
View Article and Find Full Text PDFWiley Interdiscip Rev RNA
January 2025
Institute for Ocean Engineering, Shenzhen International Graduate School, Tsinghua University, Shenzhen, People's Republic of China.
Life was originated from inorganic world and had experienced a long period of evolution in about 3.8 billion years. The time for emergence of the pioneer creations on Earth is debatable nowadays, and how the scenario for the prebiotic molecular interactions is still mysterious.
View Article and Find Full Text PDFAnn Intern Med
January 2025
Center for Hematology and Regenerative Medicine, Department of Medicine Huddinge, Karolinska Institutet, and Department of Hematology, Karolinska University Hospital, Stockholm, Sweden.
Gac Med Mex
January 2025
Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Gac Med Mex
January 2025
Departamento de Anatomía Patológica, Fundación Clínica Médica Sur; Departamento de Biología Celular y Tisular, Escuela de Medicina, Universidad Panamericana. Mexico City, Mexico.
In 1869, Friedrich Miescher, born in Basel, Switzerland, discovered a previously unknown phosphorus-rich substance in the nuclei of pus cells. Conducting his research in a laboratory set up in the kitchen of Tübingen's medieval castle in Germany, and under the guidance by Professor Felix Hoppe-Seyler, Miescher primarily focused on the composition of cell nuclei. He obtained nuclear material by washing pus cells from surgical bandages provided by a nearby hospital.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!