ArticleEuropean journal of human genetics : EJHG2024
Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review.European journal of human genetics : EJHG · 2026Pooled it
- Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.European journal of human genetics : EJHG · 2026Article
- Public attitudes toward cascade genetic screening in the United States.Health affairs scholar · 2026Article
- "Would you want to know?" Questions of utility and responsibility in Italian laypersons' preferences about genetic risk communication.Journal of community genetics · 2025Article
- Maximizing cascade genetic testing for disease prevention through direct notification of at-risk relatives.Nature medicine · 2025Article
- Cost-Effectiveness of Lynch Syndrome Identification Strategies in Individuals With Colorectal Cancer and the Impact on At-Risk Relatives.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2025Article
- Clinicians' discretion to contact patients' at-risk relatives about their genetic risk: new guidance from Australia's privacy regulator provides timely clarification.The Medical journal of Australia · 2025Article
- Developing a questionnaire to explore lay people's preferences for communicating hereditary conditions within families: insights from a cognitive interview study.Journal of community genetics · 2025Article
- Ethical and Psychosocial Issues Associated with Genetic Testing for Hereditary Tumor Predisposition Syndromes.Healthcare (Basel, Switzerland) · 2025Review
- Direct-to-Consumer Genetic Testing for Cardiovascular Disease: A Scientific Statement From the American Heart Association.Circulation · 2025Review
- Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).European journal of human genetics : EJHG · 2025Article
- Health professionals contacting patients' relatives directly about genetic risk (with patient consent): current clinical practice and perspectives.European journal of human genetics : EJHG · 2025Article
- Looking back at 2024 in the European Journal of Human Genetics.European journal of human genetics : EJHG · 2025Article
- Health System-Led Early Consent and Direct Contact of At-Risk Relatives: Pilot Study Results.Public health genomics · 2025Article
- Who has the responsibility to inform relatives at risk of hereditary cancer? A population-based survey in Sweden.BMJ open · 2024Article
- Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework.Familial cancer · 2024Article
- Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review.NPJ genomic medicine · 2024Article
- Managing genetic information sharing at family and population level.European journal of human genetics : EJHG · 2024Article
- Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives.European journal of human genetics : EJHG · 2024Article
- Privacy Implications of Contacting the At-Risk Relatives of Patients with Medically Actionable Genetic Predisposition, with Patient Consent: A Hypothetical Australian Case Study.Biotech (Basel (Switzerland)) · 2023Article
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Abstract
Genetic risk information for medically actionable conditions has relevance for patients' blood relatives. However, cascade testing uptake in at-risk families is <50%, and the burden of contacting relatives is a significant barrier to dissemination of risk information. Health professionals (HPs) could notify at-risk relatives directly, with patients' consent. This practice is supported by international literature, including strong public support. However, there is little exploration of the Australian public's views about this issue. We surveyed Australian adults using a consumer research company. Respondents were provided a hypothetical scenario and asked about views and preferences regarding direct contact by HPs. 1030 members of the public responded, with median age 45 y and 51% female. The majority would want to be told about genetic risk for conditions that can be prevented/treated early (85%) and contacted directly by a HP (68%). Most preferred a letter that included specific information about the genetic condition in the family (67%) and had no privacy concerns about HPs sending a letter using contact details provided by a relative (85%). A minority (< 5%) had significant privacy concerns, mostly about use of personal contact information. Concerns included ensuring information was not shared with third parties. Almost 50% would prefer that a family member contacted them before the letter was sent, while about half did not prefer this or were unsure. The Australian public supports (and prefers) direct notification of relatives at risk of medically actionable genetic conditions. Guidelines would assist with clarifying clinicians' discretion in this area.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.