Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes.

Undertaking presymptomatic or predictive genetic testing should involve a considered choice. Decisions regarding genetic testing for young adults have to be considered within the context of their key life stage, which may involve developing a career, forming partnerships and/or becoming parents. The aim of this study was to develop a theoretical model regarding the factors involved when young adults (18-30 years) undergo presymptomatic genetic testing for inherited cancer syndromes.

Development of a Secure Website to Facilitate Information Sharing in Families at High Risk of Bowel Cancer-The Familyweb Study.

Individuals with pathogenic variants in genes predisposing to bowel cancer are encouraged to share this information within their families. Close relatives at 50% risk can have access to bowel cancer surveillance. However, many relatives remain unaware of their vulnerability or have insufficient information.

"We don't have up to date knowledge about the disease" Practical challenges encountered in delivery of cervical cancer screening in Iraq.

Unlabelled: This qualitative study aimed to explore the lived experience of medical doctors in delivering cervical cancer screening in a city in Iraq.

Methods: An applied grounded theory approach explored the reported experiences of doctors in the field. A purposive sample of 12 gynaecologists and one general practitioner (GP) working in two main hospitals participated: Semi-structured interviews took place from June to September 2015.

The first competency based framework in genetics/genomics specifically for midwifery education and practice.

This paper details a competency framework to help address the need for structured guidance around genetic and genomic education and training for midwives. A one-day expert panel consensus meeting was convened to review and revise a previously published joint framework for nurses, midwives and health visitors. Fifteen midwives from practice, management, education and policy and three genetic counsellors (two with midwifery backgrounds) attended.

Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents.

Presymptomatic testing for hereditary cancer syndromes should involve a considered choice. This may be particularly challenging when testing is undertaken in early adulthood. With the aim of exploring the psychosocial implications of presymptomatic testing for hereditary cancer in young adults and their parents, a cross-sectional survey was designed.

An integrative review of factors that influence reproductive decisions in women with sickle cell disease.

Sickle cell disease is one of the most prevalent genetic diseases in the world. Improvements in care have enabled those affected to experience an improved quality of life, with many affected persons now reaching reproductive age. However, pregnancy poses significant risks for women with the disease and this may affect their reproductive decisions.

Correction: The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

This Article was originally published under Nature Research's License to Publish, but has now been made available under a [CC BY 4.0] license. The PDF and HTML versions of the Article have been modified accordingly.

The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.

Purpose: Genetic advances mean patients at risk of genetic conditions can be helped through testing, clinical screening, and preventive treatment, but they must first be identified to benefit. Ensuring quality of genetic care for patients requires genetic expertise in all health services, including primary care. To address an educational shortfall, a series of e-learning resources was developed in six languages to equip primary care professionals with genetic skills relevant for practice.

Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study.

Enabling informed choice is an essential component of care when offering young adults presymptomatic testing for a genetic condition. A systematic review on this topic revealed that many young adults grew up with little information regarding their genetic risk and that parents had applied pressure to them during the testing decision-making process. However, none of the studies retrieved were conducted in South European countries.

Women's experiences of living with postnatal PTSD.

Unlabelled: the mental health of new mothers is a public health concern as it is likely to have an impact on the mother herself, her close relationships and the behavioural and emotional health of her children. Post-traumatic stress disorder affects some women after childbirth.

Objective: the aim of this study was to explore how women were affected by the memories of a birth that they perceived as traumatic.

Integrative review of cervical cancer screening in Western Asian and Middle Eastern Arab countries.

Population-based screening programs have resulted in minimizing mortality and morbidity from cervical cancer. The aim of this integrative review was to explore the factors influencing access of women from Western Asian and Middle Eastern Arab countries to cervical cancer screening. A systematic search for studies conducted in Arab countries in those regions, and published in English between January 2002 and January 2017, was undertaken.

The challenges of the expanded availability of genomic information: an agenda-setting paper.

Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals' direct access to their genomic data.

The perceived impact of the European registration system for genetic counsellors and nurses.

The aim of the European Board of Medical Genetics has been to develop and promote academic and professional standards necessary in order to provide competent genetic counselling services. The aim of this study was to explore the impact of the European registration system for genetic nurses and counsellors from the perspectives of those professionals who have registered. Registration system was launched in 2013.

A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.

Muenke syndrome constitutes the most common syndromic form of craniosynostosis, occurring in 1 in 30,000 live births. The phenotype is variable, ranging from no clinical findings to complex presentation. Facilitating reproductive decision making for couples at genetic risk of having a child with Muenke syndrome is an important aspect of genetic counselling.

Implementing genetic education in primary care: the Gen-Equip programme.

Genetics and genomics are increasingly relevant to primary healthcare but training is unavailable to many practitioners. Education that can be accessed by practitioners without cost or travel is essential. The Gen-Equip project was formed to provide effective education in genetics for primary healthcare in Europe and so improve patient care.

Mixed method systematic review: the relationship between breast cancer risk perception and health-protective behaviour in women with family history of breast cancer.

Aim: The aim of this study was to determine and explore the relationship between risk perception and health-protective behaviour in individuals with family history of breast cancer.

Background: Women with increased risk of breast cancer due to inherited predisposition can use health-protective behaviours to facilitate prevention or early detection of cancer.

Data Sources: Four scientific literature databases (CINAHL, Medline, AMED, PsychInfo) and three systematic review databases were searched.

Women's knowledge and use of prenatal screening tests.

Aims And Objectives: The aim of the study was to determine the rate of use of prenatal screening tests and the factors affecting the decision to have a prenatal screening test in pregnant women in Turkey.

Background: Prenatal genetic screening as an optional service is commonly used to determine a level of risk for genetic conditions in the foetus.

Design: A quantitative cross-sectional survey.

A systematic review of interventions to provide genetics education for primary care.

Background: At least 10 % of patients seen in primary care are said to have a condition in which genetics has an influence. However, patients at risk of genetic disease may not be recognised, while those who seek advice may not be referred or managed appropriately. Primary care practitioners lack knowledge of genetics and genetic testing relevant for daily practice and feel inadequate to deliver genetic services.

Counsellee's experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information.

While pedigree drawing software is often utilised in genetic services, the use of genealogical databases in genetic counselling is unusual. This is mainly because of the unavailability of such databases in most countries. Electronically generated pedigrees used for cancer genetic counselling in Iceland create pedigrees that automatically incorporate information from a large, comprehensive genealogy database and nation-wide cancer registry.

Impact of fetal or child loss on parents' perceptions of non-invasive prenatal diagnosis for autosomal recessive conditions.

Objective: to explore parents' personal attitudes towards non-invasive prenatal diagnosis in the context of their own experiences caring for a child affected with a genetic condition or after the loss of a fetus, infant, or child due to the condition.

Methods: we collected in-depth data from parents via either focus groups or individual interviews.

Design: this was a cross-sectional interpretive study based on grounded theory.

Predictive or not predictive: understanding the mixed messages from the patient's DNA sequence.

Aims And Objectives: The aim of this discussion paper is to enable nurses to understand how deoxyribonucleic acid analysis can be predictive for some diseases and not predictive for others. This will facilitate nurses to interpret genomic test results and explain them to patients.

Background: Advances in technology mean that genetic testing is now commonly performed by sequencing the majority of an individual's genome or exome.