A5079207720- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Genomics and Rare Diseases
- Ethics and Legal Issues in Pediatric Healthcare
- Ethics in medical practice
- Prenatal Screening and Diagnostics
- Biomedical Ethics and Regulation
- Patient Dignity and Privacy
- Genetic Syndromes and Imprinting
- Adolescent Sexual and Reproductive Health
- Poverty, Education, and Child Welfare
- HIV/AIDS Research and Interventions
- Cystic Fibrosis Research Advances
- Innovations in Medical Education
- Cancer Genomics and Diagnostics
- Reproductive Health and Technologies
- Epigenetics and DNA Methylation
- Molecular Biology Techniques and Applications
- Organ Donation and Transplantation
- Race, Genetics, and Society
- Music Therapy and Health
- Global Health Workforce Issues
- Medical Education and Admissions
- Torture, Ethics, and Law
- Art Therapy and Mental Health
University of Southampton
2013-2024
Southampton General Hospital
2017
Many programmes on young people and HIV/AIDS prevention have focused the in-school channeled sexual reproductive health messages through schools with limited activities for people's families. The assumption has been that parents in African families do not talk about (SRH) their children. These approach had success because of failure to factor person's family context, influence parents. This paper explores parent-child communication SRH families, content, timing reasons children aged 14-24...
Patients with COPD on long term oxygen therapy frequently do not adhere to their prescription, and they use ambulatory systems as intended. Reasons for this lack of adherence are known. The aim study was obtain in-depth information about perceptions prescribed from patients inform design, prescription management.A qualitative design used, involving semi-structured face-to-face interviews informed by a grounded theory approach. Twenty-seven UK community-dwelling using NHS were recruited....
Abstract European genetic testing guidelines recommend that healthcare professionals (HCPs) discuss the familial implications of any test with a patient and offer written material to help them share information family members. Giving patients these “family letters” alert relatives their risk has become part standard practice gone relatively unquestioned over years. Communication at‐risk will an increasingly pressing issue as mainstream routine incorporates broad genome tests number findings...
In genetic medicine, a patient9s diagnosis can mean their family members are also at risk, raising question about how consent and confidentiality should function in clinical genetics. This is particularly pressing when it unclear whether patient has shared information. Conventionally, healthcare professionals view an individual level ‘disclosure without consent’ as the exception, not rule. The relational joint account model, by contrast, conceptualises information confidential familial...
This paper proposes a refocusing of consent for clinical genetic testing, moving away from an emphasis on autonomy and information provision, towards the virtues healthcare professionals seeking consent, relationships they construct with their patients.We draw focus groups UK working in field genetics, as well in-depth interviews patients who have sought testing UK's National Health Service (data collected 2013-2015). We explore two aspects consent: first, how consider act 'consenting'...
Abstract Background In recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to advent next-generation sequencing. This influx information leads continuous changes knowledge on how genetic variants relate hereditary disease. These can have important consequences for patients who had testing past, as new may affect their management. When and should be recontacted after becomes available been investigated extensively. However, issue...
Objectives Clinical genetics guidelines from 2011 conceptualise genetic information as confidential to families, not individuals. The normative consequence of this is that the family's interest primary consideration and shared unless there are good reasons do so. We investigated healthcare professionals' (HCPs') views about, reasoning around, individual familial approaches confidentiality how such influenced their practice. Method 16 focus groups with 80 HCPs working in/with clinical...
Parenting through control and monitoring has been found to have an effect on young people's sexual behaviour. There is a dearth of literature from sub-Saharan Africa this subject. This paper examines parental the implications decision making in rural setting North-Western Tanzania. study employed ethnographic research design. Data collection involved 17 focus group discussions 46 in-depth interviews conducted with people aged 14-24 years parents/carers within age-group. Thematic analysis was...
Abstract Next generation sequencing has enabled fast and relatively inexpensive expanded carrier screening (ECS) that can inform couples’ reproductive decisions before conception during pregnancy. We previously showed a couple-based approach to ECS for autosomal recessive (AR) conditions was acceptable feasible both health care professionals the non-pregnant target population in Netherlands. This paper describes acceptance of this free test-offer preconception 50 severe conditions,...
Objectives This study explored the views of healthcare professionals (HCPs) in UK about what information should be disclosed, when; and whether women/parents given a choice as to they wish know. Methods Q-methodology was used assess 40 HCPs (genetic HCPs, fetal medicine experts, lab-scientists). Results Most participants agreed that variants unknown clinical significance not disclosed. Participants were divided between those who considered uncertain helpful for parents clinicians, them...
Background Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature may be ameliorated by treatment. Approximately 50% of patients have loss methylation the control region (H19/IGF2:IG-DMR) on 11p15.5 and 5%–10% maternal uniparental disomy chromosome 7. Most published research focuses childhood phenotype. Our aim was to describe phenotypic characteristics older with SRS. Methods A retrospective cohort 33 individuals a confirmed molecular...
Healthcare professionals (HCPs) regularly face requests from parents for predictive genetic testing of children adult-onset conditions. Little is known about how HCPs handle these test requests, given that guidelines recommend such deferred to adulthood unless there medical benefit before time. Our study explored the process decision-making between and parents. Semi-structured interviews were conducted with 34 in 8 regional services across UK, data thematically analysed. We found instead...
This study set out to explore the attitudes of a representative sample British public towards genetic testing in children predict disease future. We sought opinions about for adult-onset conditions which no prevention/treatment is available during childhood, and ‘carrier’ status assess future reproductive risks. The also examined participants’ level agreement with reasons professional organisations give favour deferring such testing. Participants (n=2998) completed specially designed...
This paper examines how socio-economic changes in Tanzania have impacted on parent-child relationships, particular parental behavioural control over their children and influence young people's sexual behaviour. Data came from participant observation, focus group discussions in-depth interviews with people (14–24 years) parents. Socio-economic (education, values, material needs provision) affected parent-young person relationships. Young contributed to the economic of families parents...
The aim of expanded preconception carrier screening (ECS) is to inform any couple wishing conceive about their chances having children with severe autosomal or X-linked recessive conditions. Responsible implementation ECS as reproductive genetic in routine care requires assessment benefits and harms. We examined the psychological outcomes couple-based for 50 (AR) conditions provided by general practitioners (GPs) couples from Dutch population.Dutch GPs invited 4,295 women aged 18-40. anxiety...
Objective There is limited information on the psychosocial impact of growing up with Silver-Russell syndrome (SRS), characterised by slow growth in utero leading to short stature adulthood. Such could aid families making difficult treatment decisions and guide management strategies for health professionals. We aimed explore lived experience people SRS across lifespan. Design/setting/patients In-depth, semi-structured interviews were conducted between January 2015 October 2016 a sample 15...