Heather Skirton

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 mo...

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 investigated the feasibility and accep...

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 p...

A comprehensive pedigree, usually provided by the counselee and verified by medical records, is essential for risk assessment in cancer genetic counseling. Collecting the relevant information is time-consuming and sometimes impossible. We studied the use of electronically ascertained pedigrees (EGP). The study group comprised women (n = 1352) recei...

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....

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 designe...

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, managem...

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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...

Infant mental health (IMH) is a growing area of practice for health, education and social care practitioners, as links are increasingly made between experiences in the early years and subsequent child development, mental health and well-being. It is unclear how parents perceive IMH and use knowledge relating to IMH with their children. We conducted...

Introduction: Many relatives who share a high lifetime risk of cancer remain unaware of their opportunities for genetic testing or screening [1]. Providing letters and verbal recommendations to patients are not necessarily sufficient to support effective communication in families and methods for disseminating information to relatives are still unde...

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 h...

Introduction: Relatives of people diagnosed with a genetic susceptibility to bowel cancer may also have a high lifetime risk of this cancer. Therefore, for these families it is important that information is shared about the diagnosis with relatives to enable testing, better understanding and self-management [1]. However, evidence indicates that les...

How to facilitate and promote the access to cervical cancer screening among women living in Iraq

This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: Primary objective The primary objective is to assess the effectiveness of interventions to improve patient identification, access to and utilisation of genetic and genomic counselling services when compared to: i) No intervention; ii) Usual or current practice;...

Objective: the aim of this study was to explore how women were affected by the memories of a birth that they perceived as traumatic. Design: in this paper the authors report the qualitative analysis of interview data from seven postnatal women reporting symptoms of PTSD. Participants were recruited from a large NHS Trust in the South West of Eng...

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 thos...

Background: Predictive genetic testing is important for risk stratification in inherited cardiac conditions, yet may cause psychological distress. The aim of this study was to determine the healthcare needs of young adults undergoing predictive testing for inherited cardiomyopathies. Method: In this qualitative study, 11 young adults (aged 16–25 y...

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....

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 professional...

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. Partne...

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 cou...

Aim: 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 source...

Genetic healthcare has developed as a specialty in Europe over the past five decades and initially services were provided by medical specialists. However, due to changes in awareness of the psychosocial impact of genetic conditions, the amount of new options available to families and the consequent workload increase, clinical genetic services are n...

Patient organised personal health records (PHRs) can provide the facility to share information about a familial diagnosis with relatives electronically, and also allow individuals to decide what they share and with whom. PHRs provide a secure mechanism for sharing information digitally which won’t be lost or destroyed, unlike paper leaflets or lett...

Aim: The aim of the study was to determine the rate of utilization 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 fetus. Desi...

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...

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 incorporat...

Individuals at increased risk of familial bowel cancer are advised to have regular colonoscopy and to discuss the implications of their diagnosis with relatives. However, only a minority of relatives access screening or genetic testing, which is partly due to lack of knowledge about their personal risk. We are studying information preferences to de...

The need for appropriately trained genetic counsellors to support genetic healthcare is now acknowledged. However, while programmes for education of genetic counsellors exist in a number of countries, these do not conform to any specific international standards. As genetic techniques, educational standards and professional standards have been evolv...

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 intervie...

Direct to consumer genetic testing offered via the Internet has been available for over a decade. Initially most tests of this type were offered without the input of the consumer’s own health professional. Ethical and practical concerns have been a raised over the use of such tests: these include fulfilling the requirement for informed consent, uti...

Primary objective: The primary objective is to assess the effectiveness of interventions to improve patient identification, access to and utilisation of genetic and genomic counselling services when compared to: No intervention;Usual or current practice; andOther active intervention. Secondary objective: The secondary objective is to explore the...

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 n...

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.

Non-invasive prenatal testing (NIPT) using cell-free DNA for aneuploidy is a highly accurate screening test; however, concerns exist around the potential for routinisation of testing. The multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to assess informed choice for Down syndrome screening (DSS). We have val...

Objectives: the objectives of this study were to explore breast feeding peer supporters׳ motivation to volunteer within a hospital environment, to describe their experiences of volunteering within a hospital environment, to examine the relationships between peer supporters and ward staff, and to identify factors contributing to the future sustaina...

The development of non-invasive prenatal testing has increased accessibility of fetal testing. Companies are now advertising prenatal testing for aneuploidy via the Internet. The aim of this systematic review of websites advertising non-invasive prenatal testing for aneuploidy was to explore the nature of the information being provided to potential...

The number of pregnant women of advanced maternal age has increased worldwide. Women in this group have an increased chance of fetal abnormality. To explore Japanese women's experiences regarding maternal age-specific risks and prenatal testing, we conducted a descriptive qualitative study. Semi-structured interviews were conducted with 16 women ag...

Prenatal testing based on cell-free fetal DNA in maternal serum is now possible for specific monogenic conditions, and studies have shown that the use of non-invasive testing is supported by prospective parents and health professionals. However, some ethical issues have been raised concerning informed consent and paternal rights. The objective of t...

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.

Presymptomatic and predictive genetic testing should involve a considered choice, which is particularly true when testing is undertaken in early adulthood. Young adults are at a key life stage as they may be developing a career, forming partnerships and potentially becoming parents: presymptomatic testing may affect many facets of their future live...

The aims of the original study referred to in this paper were to explore the information needs of people with learning disabilities with respect to consent for genomic tests, and to identify ways of facilitating informed consent for such tests. In this research methods review paper, we consider the ethical issues involved in recruitment for our stu...

Prenatal screening tests can help to estimate the possibility of a pregnant woman having a baby with trisomy 21 (Down syndrome). As these tests are optional, it is essential that women are provided with appropriate verbal and written information to enable them to make an informed choice. In this study, we assessed the content and quality of Down sy...

This study provides an understanding of the experiences and perceptions of phlebotomy in people with infection who have venous damage related to injecting drug use with the aim of improving their care. Narrative interviews were conducted with 10 attendees of a phlebotomy service within an acute Trust in the south–west of England. The participants h...

Genetic testing is becoming more commonplace in general and specialist health care and should always be accompanied by genetic counselling, according to Swedish law. Genetic counsellors are members of the multi-disciplinary team providing genetic counselling. This study examined the role and added value of genetic counsellors in Sweden, using a cro...

Genetic counseling refers to the totality of activities that (1) establish the diagnosis of genetic disease, (2) assess the occurrence risk, (3) communicate to the patient and family the chance of recurrence, (4) provide full and unbiased information within a caring relationship regarding many problems raised by the disease and its natural history,...

Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the a...

Non-invasive prenatal testing has been in clinical use for a decade; however, there is evidence that this technology will be more widely applied within the next few years. Guidance is therefore required to ensure that the procedure is offered in a way that is evidence based and ethically and clinically acceptable. We conducted a systematic review o...

Quality assessment of genetic counseling practice for improving healthcare is a challenge for genetic services worldwide; however, there is scarce literature regarding quality issues in genetic counseling in the context of presymptomatic testing for late-onset neurological diseases (Paneque et al. 2012) The aims of this qualitative study were to: (...

A qualitative study focused on the practical challenges facing health care professionals working in cervical cancer screening departments in Iraq.

Baackground Preimplantation genetic diagnosis was developed as an alternative to prenatal diagnosis for couples with a family history of genetic disease. After in vitro fertilization, the embryos can be analysed to ensure that only healthy embryos are transferred to the uterus. Past studies have suggested that couples who wish to avoid having a chi...

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decisio...

Patients who might benefit from genetic services may be denied access through failure to be referred. To investigate the evidence on barriers to referral to genetic services, we conducted a systematic review of empirical evidence on this topic. Nine studies were included in the review. Barriers related to non-genetic healthcare professionals were:...

Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death (SCD) in young adults and often occurs without warning as the primary disease event. The autosomal dominant inheritance pattern precipitates a 1:2 (50%) chance of being affected for future generations, with a diagnosis being synonymous with a spectrum of cardiac path...

In many countries, care during pregnancy, labour and the postnatal period is often provided by a practising midwife. Despite specific risks associated with pregnancy in advanced maternal age, attention has shifted away from this group of women with regard to fetal screening and testing. This study aimed to explore the experiences of mothers aged 35...

In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate...

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.

As part of an ethnographic study, the impact of foreign postings on spouses who accompany military personnel was explored. Individual interviews and focus groups with 34 British military spouses based in one location in southern Europe were conducted. Key findings suggested that reaction to a foreign posting was a reflection of personal attitudes,...

Little research has examined the impact of being an accompanying spouse on British military foreign postings. The aim of this qualitative study was to investigate the experiences of 13 military spouses from 11 different overseas locations. Data were collected via an online forum and thematic content analysis was conducted. Key findings revealed tha...

Direct-to-consumer (DTC) genetic tests are available online, but there is little practical guidance for health professionals and consumers concerning their use. Work to produce such guidance was initially informed by three systematic reviews assessing the evidence on views and experiences of users and health professionals and policies of profession...

This is the sixth article in a series exploring genetics and genomics health care. The focus of this article is how to apply knowledge and understanding of the utility and limitations of genetic and genomic information and testing to underpin care and support for individuals and families before, during and after decision making. This is essential t...

This is the fifth in a series of articles on genetics. This article focuses on the science that informs health care and explains how genetics (the study of inheritance and variation) and genomics (the study of the structure and function of the genome and its interactions with the environment) relate to health, illness and care provision. This artic...

Study question: How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? Summary answer: The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. What is known alre...

For over four decades, it has been possible to offer prenatal diagnostic testing for fetal abnormalities. Prenatal testing is now available for a wide range of monogenic disorders as well as chromosomal abnormalities and should be provided within the ethical framework of informed consent and autonomous choice. However, there are no published guidel...

Direct-to-consumer genetic and genomic tests have been offered for over a decade. With the reduction in the cost of sequencing, the options for consumers will increase, with subsequent pressure on health services to interpret data and integrate the results into healthcare management. However, indications are that health professionals are grossly un...

The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.

To evaluate the social networking site Twitter™ as a vehicle for recruitment in online health research and to examine how the Twitter community would share information: the focus of our study was the antenatal experience of mothers of advanced maternal age. One result of growth in worldwide Internet and mobile phone usage is the increased ability t...

To report a review of a genetics education framework using a consensus approach to agree on a contemporary and comprehensive revised framework. Advances in genomic health care have been significant since the first genetics education framework for nurses was developed in 2003. These, coupled with developments in policy and international efforts to p...

Learning outcomes and practice indicators for each nursing competency in genetics/genomics.

Nursing competencies in genetics (Kirk et al. 2003).

Title: Investigating balance in persons with Down Syndrome: A focus on vision BACKGROUND AND AIM: People with Down Syndrome (pwDS) exhibit poor balance and incoordination1, both features which have been linked to cerebellar disease pathology, peripheral and central sensory processing abnormalities, problems with tone and co-contraction and cognitiv...

Non-invasive prenatal testing has been in clinical use for a decade; however, there is evidence that this technology will be more widely applied within the next few years. Guidance is therefore required to ensure that the procedure is offered in a way that is evidence based and ethically and clinically acceptable. We conducted a systematic review o...

Global trends in public health nursing (PHN) suggest the value of community-based social research. However, it is not always clear how social research relationships may be of benefit to PHN or how such skills can best be learned and applied. To advance this understanding, we present a qualitative analysis of the development of social research relat...

Abstract Background: Patients with nonmalignant respiratory diseases have limited access to palliative care services and health professionals do not adequately address discussions about end-of-life care preferences. Objective: The aim of this systematic literature review was to highlight key components and challenges for patients and health profess...

Women of advanced maternal age have a higher risk of having a child affected by a chromosomal disorder than younger childbearing women and are frequently offered invasive testing during pregnancy. The aim of our systematic review was to identify and analyse the current evidence base regarding factors that influence the uptake of invasive fetal test...

Within the health care system, genetic tests for monogenic disorders are ordered by a health professional, and the results are interpreted and conveyed to the patient by that person. With the availability of direct-to-consumer genetic testing (DTCGT), individuals can buy genetic testing kits and obtain results without the assistance of a profession...

Social support has been associated with positive outcomes regarding the mothering experience, and professional interventions have therefore been developed in formal settings to promote this. An ethnographic approach was used to consider the subjective experiences of mothers attending a professionally-facilitated group for parents and children aged...

The aim of this study was to explore the views of parents and health professionals regarding informed decision making for antenatal screening for Down syndrome. This qualitative study was based on thematic analysis and conducted in England, where screening for Down syndrome is universally offered to all pregnant women. Four focus groups were held w...

Genetic counsellors have been working in some European countries for at least 30 years. Although there are great disparities between the numbers, education, practice and acceptance of these professionals across Europe, it is evident that genetic counsellors and genetic nurses in Europe are working autonomously within teams to deliver patient care....

Since the 1990s, there has been a rapid expansion in the number and type of genetic tests available via health professionals; the last 10 years, however, have seen certain types of genetic and genomic tests available direct-to-consumer. The aim of this systematic review was to explore the topic of direct-to-consumer genetic testing from the health...

The majority of people with degenerative neurological conditions are cared for within their own families. Cognitive impairment can be a significant and increasing symptom of these conditions. In this article we report how a team of experienced researchers carried out a meta-ethnography of qualitative research articles focusing on the impact of cari...