Electronically ascertained extended pedigrees in breast cancer genetic counseling.

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) receiving HBOC genetic counseling between December 2006 and December 2016 at Landspitali in Iceland. EGP's were ascertained using information from the population-based Genealogy Database and Icelandic Cancer Registry. The likelihood of being positive for the Icelandic founder BRCA2 pathogenic variant NM_000059.3:c.767_771delCAAAT was calculated using the risk assessment program Boadicea. We used this unique data to estimate the optimal size of pedigrees, e.g., those that best balance the accuracy of risk assessment using Boadicea and cost of ascertainment. Sub-groups of randomly selected 104 positive and 105 negative women for the founder BRCA2 PV were formed and Receiver Operating Characteristics curves compared for efficiency of PV prediction with a Boadicea score. The optimal pedigree size included 3° relatives or up to five generations with an average no. of 53.8 individuals (range 9-220) (AUC 0.801). Adding 4° relatives did not improve the outcome. Pedigrees including 3° relatives are difficult and sometimes impossible to generate with conventional methods. Pedigrees ascertained with data from pre-existing genealogy databases and cancer registries can save effort and contain more information than traditional pedigrees. Genetic services should consider generating EGP's which requires access to an accurate genealogy database and cancer registry. Local data protection laws and regulations have to be addressed.

How do parents perceive and utilize knowledge of their infant's mental health? A systematic review.

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 a systematic review, the aim of which was to determine parents' perceptions of IMH and how they utilize this knowledge with their infants. We undertook a search of relevant databases and journals and from an initial list of 4147 potential papers, identified 16 for the review. Original data were extracted and presented in a table, and the content of all papers was analysed thematically and presented in narrative form. Three main themes emerged from the available research: knowledge and understanding of child development, influences of society and culture, and interpretation of emotions and expressions. Our results indicate that research is limited in terms of parental perspectives of IMH and how they obtain and use this knowledge. Further research is needed to investigate this topic to maximize mental well-being in infancy and later life.

Components of genetic counsellor education: A systematic review of the peer-reviewed literature.

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 evolved, and with increasing mobility of genetic counsellors, it is of great importance to have some comparison of education and training between different countries. This systematic review was conducted to determine the components of educational programmes for genetic counsellors worldwide that have been published in peer-reviewed literature. Databases were searched for studies published in English from 2000 to 2014 related to the topic. We identified 406 potential papers, of these, 11 studies met the inclusion criteria. The findings indicate that, in most cases, the theoretical components of genetic counsellor programmes conform to the recommendations and requirements of relevant professional bodies. However, clinical preparation of genetic counsellors in real-life professional practice settings seems to be less well addressed as this is essential to ensure genetic counsellors are able to provide safe patient care after graduation. Further work to gain agreement internationally on genetic counsellor education is needed.

Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools.

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: (1) explore the views of professionals' who provide genetic counseling services for presymptomatic testing for late-onset neurological diseases regarding relevant quality indicators for counseling practice; and (2) examine current assessment of such counseling practice for Portuguese genetic services. Quality indicators are a means of measuring either the process or outcomes of patient services, with the aim of evaluating and improving quality of care (Mainz 2003). In this study, we defined quality indicators as measurable outcomes of the counseling process that may reflect good professional practice and desirable end-term effects. We undertook interviews with 18 genetic health professionals (85 % of all genetic counseling professionals involved) from the major genetic services in Portugal. Results indicate that professionals valued some core components of genetic counseling, including providing information and decision-making support, informing the consultand about the genetic counseling protocol, as well as exploring motivations, expectations for test results, consequent anticipated life changes, psychosocial adjustment, and personal and familial experience with the disease. Professionals were not, however, able to clearly elucidate quality indicators for effective practice and some reported they had not reflected on that topic before. Professionals also reported specific challenges in their practice, such as ambiguity of the health/illness status and affirming consultands' autonomy. Results of the study have revealed a lack of knowledge about quality indicators and tools to assess counseling practice. A credible set of quality indicators for presymptomatic testing is required as a foundation for the development of specific tools.

Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations.

In healthcare settings, genetic tests to determine whether an individual had inherited a genetic mutation are ordered by a health professional, and the results are interpreted and conveyed to the patient by that person. However, direct to consumer genetic testing (DTCGT) has enabled individuals to purchase genetic tests and receive results without the intervention of a health professional. To inform a set of guidelines for consumers and health professionals, we undertook a systematic review of position statements, policies and recommendations on the use of DTCGT. We performed a search of seven databases and the Internet for relevant documents. The search terms were 'direct to consumer' and 'genetic test', and documents in English published from 2002 to 2011 were included. The search retrieved 314 items, of which 14 were eligible for review. Five themes were derived from thematic analysis: motivation for use, potential benefits, potential harms, recommendations to guide consumers and need for research. The authors of these documents described more potential harms than benefits, but, although some stated that direct to consumer testing should be actively discouraged, others supported consumer rights to make autonomous choices. Further research into the impact of direct to consumer testing on health services and consumers is required to inform policies.

Determination of foetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom.

In pregnancies at risk of haemophilia, foetal sex determination is used to plan perinatal management and to guide the offer of invasive testing in pregnancies with a male foetus. Traditionally ultrasound from 12 weeks gestation has been used, but recently options for early foetal sex determination have increased following the introduction of non-invasive prenatal diagnosis (NIPD) using cell free foetal DNA in maternal plasma. This study was conducted to identify clinical practices and examine health professional attitudes regarding NIPD for foetal sex determination. A qualitative approach using one-to-one semi structured interviews was used to enable an in-depth exploration of current practice, introduction and use of NIPD and benefits and disadvantages of offering NIPD. Interviews were conducted with consultant haematologists (N = 7), specialist haemophilia nurses (N = 7), genetic counsellors (N = 6), consultants in clinical genetics (N = 5), specialist midwives (N = 2) and obstetricians (N = 5) from 24 services across the United Kingdom (UK). Key differences in how NIPD for foetal sexing is utilized throughout the UK were identified. Some services routinely offered NIPD to all carriers of haemophilia or to all carriers of severe haemophilia, others discussed the value of NIPD with all or primarily offered NIPD as a first step to invasive testing. This study informs our understanding of how NIPD is being utilized and provides unique insights into current practice. The identification of variation between services in how prenatal testing options are offered has implications for future policy and guidelines for prenatal care.

A framework for genetic service provision for haemophilia and other inherited bleeding disorders.

This framework document offers guidance to patients, doctors, nurses, laboratory scientists, funders and hospitals on the provision of clinical and laboratory genetic services for haemophilia. With recent advances in molecular laboratory techniques it is now possible to give the vast majority of individual patients and family members very reliable genetic information. To enable these genetic data to be used for both the optimal treatment of patients with inherited bleeding disorders and for appropriate reproductive decisions in carriers, there needs to be a clear and robust framework for systematically acquiring the necessary clinical, personal, family and laboratory information upon which decisions can be made. This document provides guidance on the range and standards of clinical and laboratory genetic services which should be offered to patients and their families. Included are arrangements for genetic counselling and testing (including consent and confidentially issues), management of early pregnancy, standards for laboratory genetic services, as well as advice on data storage, security and retrieval.

Genetic counseling outcomes validation by genetics nurses in the UK and US.

PURPOSE: To validate genetic counseling outcomes with a sample of genetics nurses from the United Kingdom (UK), and to compare elements of genetic counseling outcomes with those from a sample of genetics nurses from the United States (US). DESIGN: Descriptive-comparative survey. METHODS: Concept analysis and literature review were used to designate outcomes, and genetics nurses were surveyed to validate the outcomes. A revision of Fehring's 1987 methodology for assessing content validity was used to estimate content validity and sensitivity of the genetic counseling outcomes. Data are reported on a convenience sample of 50 UK nurse members of the Association of Genetic Nurses and Counsellors. Findings were correlated with prior data from a convenience sample of 92 U.S. nurse members of the International Society of Nurses in Genetics, Inc., and data were compared between groups. FINDINGS: A significant positive correlation was found between samples of U.K. and U.S. nurses regarding components of outcomes of the genetic counseling process and between groups regarding extent of contribution of nurses to the outcomes. Strength of nursing contributions to knowledge of disease and indicators of coping varied according to country. CONCLUSIONS: Genetics nurses in the UK and US had similar definitions of outcomes of genetic counseling, but priorities of indicators differed between countries. Terminology used in measures to identify outcomes of the process of genetic counseling must be consistent with cultural norms.

The Client's Perspective of Genetic Counseling-A Grounded Theory Study.

Previous studies of genetic counseling have mainly focused on outcomes defined by researchers or service providers, and have frequently related to changes in reproductive behavior and/or client knowledge. A longitudinal study of 43 families referred to a clinical genetic service was undertaken to ascertain client needs and expectations of the service, and to identify relevant outcomes from the clients' perspective. Semistructured interviews were conducted with each client, prior to and after genetic counseling. The transcribed interviews were analyzed using grounded theory. The need for certainty emerged as a powerful factor that motivated clients to pursue the genetic referral. The client's lay knowledge of the condition, satisfaction of the need for certainty, and the formation of a personalized relationship between the client and the genetics staff significantly influenced the central outcome, identified as a change in the client's psychological adaptation to the genetic condition in the family.

The 'new genetics' and nursing: what does it have to do with me?

Recent developments in genetics mean that this previously specialised subject is now essential knowledge for all nurses. Heather Skirton and Christine Patch describe how fundamental knowledge of the new genetics will enable nurses to help patients through the maze of choices open to them.

Recommendations for education and training of genetic nurses and counsellors in the United Kingdom.

Genetic nurses and counsellors work as part of the professional team providing clinical genetic services from regional centres in the United Kingdom. The education and training needs of genetic nurses and counsellors have not previously been formally identified. The guidelines presented have been devised to equip practitioners to fulfil their professional role as defined in a previous study, by identifying objectives, educational pathways, and means of assessment. While academic courses provide an essential framework, experiential learning in a clinical setting is also considered a vital component of the preparation for practice.

The role and practice of the genetic nurse: report of the AGNC Working Party.

The role of the genetic nurse has evolved historically with the emergence of clinical genetics in the field of health care. During 1994, a Practice Working Party was convened by the Genetic Nurses and Social Workers Association in response to discussion about the role of the nurse within and between regional genetics centres. The Working Party conducted a study of the current nursing practice and attitudes of nurses and clinicians to the nursing role, as a basis for future discussion and planning for educational needs. This paper describes the role of the genetic nurse within the United Kingdom and offers suggestions for assessment of competency. Strong themes emerging from respondents' comments include the need and desire for multi-professional team work, and it is apparent that most respondents felt the families' needs would best be served by a skilful combination of medical and nursing input, rather than adherence to traditional roles.

Using research to develop care for patients with Huntington's disease.

Huntington's disease (HD) is a progressive neurodegenerative disorder affecting approximately 5-10 per 100,000 people in the UK (Harper, 1992). This dominantly inherited genetic condition causes movement disturbance (especially chorea), depression and dementia. The complex physical, mental, psychological and social problems caused by HD can result in particular difficulties in care. The course of the disease may span 15-20 years from diagnosis to death, necessitating long-term nursing care. The NHS and Community Care Act 1990 has made statutory provision for patients to be cared for at home if they so wish, placing a greater onus of care on the primary healthcare team. A survey of 25 patients in Somerset who had been diagnosed with HD was recently undertaken to ascertain the health and social care needs of patients and their carers. Of a possible 300 care needs in 12 categories (e.g. housing, dietary advice, carer support), 73 unmet needs were identified in this group. Using the survey as a basis, this article describes the steps taken in Somerset to ensure that the future needs of this group of patients are fulfilled. This model may be appropriate for the care of patients with other complex long-term diseases.

Psychological implications of advances in genetics--3 predictive testing.

The psychosocial effects of genetic testing on individuals and families are complex, and the implications should be considered carefully. Testing of children for carrier status or adult-onset conditions is not usually advised. Professionals need to be aware of the complexity of the issues affecting clients and provide appropriate education and support.

Psychological implications of advances in genetics--2 prenatal diagnosis.

Prenatal diagnosis is possible for some single gene disorders. The decision to undergo prenatal testing is often difficult for parents. Psychological support is essential before and after testing. Appropriate genetic counselling before a pregnancy allows the issues to be discussed thoroughly.

Psychological implications of advances in genetics--1. Carrier testing.

Scientific advances in the identification of genes and genetic conditions are providing families with more options for genetic testing and prenatal diagnosis. The psychosocial effects of genetic testing on individuals and families must be considered carefully. Professionals need to be aware of the complexity of issues affecting clients and provide appropriate education and support.

More than an information service? Should genetic services offer clients counselling?

As knowledge and techniques develop in predicting genetic conditions, more genetic services are being established. This article explores whether such services should offer counselling to their clients.

A three generation family with fibrodysplasia ossificans progressiva.

A family with five persons affected with fibrodysplasia ossificans progressiva (myositis ossificans progressiva) in three generations is described. This is the first well documented three generation family with this condition and provides further evidence for autosomal dominant inheritance. A wide range of phenotypic severity is apparent, from disabling ectopic bone formation and premature death to an asymptomatic adult with characteristic big toe malformations.