Objective: It is well known that research participants want to receive genetic risk information that is about high risks, serious diseases and potential preventive measures. The aim of this study was to explore, by qualitative means, something less well known: how do healthy research participants themselves make sense of genetic risk information?
Method: A phenomenographic approach was chosen to explore research participants' understanding and assessment of genetic risk. We conducted four focus-group (N=16) interviews with participants in a research programme designed to identify biomarkers for cardiopulmonary disease.
Results: Among the research participants, we found four ways of understanding genetic risk: as a binary concept, as an explanation, as revealing who I am (knowledge of oneself) and as affecting life ahead.
Conclusion: Research participants tend to understand genetic risk as a binary concept. This does not necessarily imply a misunderstanding of, or an irrational approach to, genetic risk. Rather, it may have a heuristic function in decision-making.
Practical Implications: Risk communication may be enhanced by tailoring the communication to the participants' own lay conceptions. For example, researchers and counselors should address risk in binary terms, maybe looking out for how individual participants search for threshold figures.
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http://dx.doi.org/10.1016/j.pec.2017.09.009 | DOI Listing |
J Crohns Colitis
January 2025
Servei d'Aparell Digestiu, Hospital Universitari Germans Trias i Pujol (Badalona, Catalonia, Spain).
Background And Aims: Inflammatory bowel disease (IBD) develops in genetically susceptible individuals exposed to certain environmental factors, of which only a few have been established. We aimed to assess whether bariatric surgery (BS) and severe obesity are associated with an increased risk of developing IBD.
Methods: Adults diagnosed with obesity or severe obesity between 2005 and 2020 were identified from the Catalan Health Surveillance System; those diagnosed with IBD prior to the diagnosis of obesity or severe obesity were excluded.
Mol Biol Rep
January 2025
Pediatric Rheumatology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Background: Interleukin-1 receptor-associated kinase1 (IRAK1) plays a considerable role in the inflammatory signaling pathway. The current study aimed to identify any association between (rs1059703) single nucleotide polymorphism (SNP) and vulnerability to rheumatological diseases in the pediatric and adult Egyptian population.
Patients And Methods: The current study included four patient groups: adult Systemic lupus erythematosus (SLE), Rheumatoid arthritis (RA), juvenile systemic lupus erythematosus (JSLE), and juvenile idiopathic arthritis (JIA).
Fam Cancer
January 2025
Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder caused by a germline pathogenic variant in the MEN1 tumor suppressor gene. Patients with MEN1 have a high risk for primary hyperparathyroidism (PHPT) with a penetrance of nearly 100%, pituitary adenomas (PitAd) in 40% of patients, and neuroendocrine neoplasms (NEN) of the pancreas (40% of patients), duodenum, lung, and thymus. Increased MEN1-related mortality is mainly related to duodenal-pancreatic and thymic NEN.
View Article and Find Full Text PDFMol Biol Rep
January 2025
Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Introduction: Hematologic malignancies, originating from uncontrolled growth of hematopoietic and lymphoid tissues, constitute 6.5% of all cancers worldwide. Various risk factors including genetic disorders and single nucleotide polymorphisms play a role in the pathogenesis of hematologic malignancies.
View Article and Find Full Text PDFJ Youth Adolesc
January 2025
Research Center of Adolescent Psychology and Behavior, School of Education, Guangzhou University, Guangzhou, China.
Risk-taking is a concerning yet prevalent issue during adolescence and can be life-threatening. Examining its etiological sources and evolving pathways helps inform strategies to mitigate adolescents' risk-taking behavior. Studies have found that unfavorable environmental factors, such as adverse childhood experiences (ACEs), are associated with momentary levels of risk-taking in adolescents, but little is known about whether ACEs shape the developmental trajectory of risk-taking.
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