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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., Methods: Pregnant women (n = 274) who sought prenatal care from one hospital in Turkey were recruited and asked to complete questionnaires that were developed by the researchers. Descriptive and inferential statistics were used to analyse the data., Results: Almost half (44·2) % of the women were primiparas, and the majority (97·8%) were in the third trimester of pregnancy. Only 36·1% of the women reported that they had prenatal screening by either the double test or triple test. Women had a low level of knowledge regarding prenatal screening: the mean knowledge score was 3·43 ± 3·21 of a possible score of 10. Having consanguineous marriage, a history of spontaneous abortion, a child with genetic disorder, multiparity or a longer marriage duration were positively correlated with accepting a prenatal screening test., Conclusions: This study has provided baseline data on the uptake and reasons for accepting or declining a prenatal screening in a cohort of Turkish women. There is evidence to suggest that more education is needed to improve knowledge and provide comprehensive nursing care to promote informed consent in this context., Relevance to Clinical Practice: Perinatal nurses are ideally situated to inform pregnant women about prenatal screening tests to improve access to healthcare services and to ensure informed decisions are made by pregnant women and their partners., (© 2016 John Wiley & Sons Ltd.)

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., Design: Mixed method systematic review., Review Methods: The systematic review of peer-reviewed literature was conducted following the method described by the Centre of Reviews and Dissemination. Research studies published in English between January 2004-December 2014 focussing on individuals with family history of breast cancer were included. Of 210 papers identified, 10 studies were eligible for inclusion. Studies were assessed for their quality. Due to the diversity of the studies, a three-step analysis was undertaken involving narrative summary of the quantitative data, thematic analysis and presentation of integrated results in narrative form., Results: A clear link between breast cancer risk perception and some health-protective behaviour was identified. Screening administered by health professionals (mammogram screening, chemoprevention) were appropriately adopted. However, behaviours requiring high individual input (breast self-examination, lifestyle changes) were not as appropriately adopted and the decision process was not as clearly linked to risk perception., Conclusions: There is limited understanding about the complex relationship between risk perception and health-protective behaviour. Risk communication and health promotion need to be further developed to assist individuals to better engage with their actual risk and risk-appropriate behaviours, particularly those that require regular personal effort., (© 2016 John Wiley & Sons Ltd.)

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. This results in a huge amount of data, some of which can be used to predict or diagnose disease., Design: This is a discussion paper., Methods: This paper emerged from multiple discussions between the three authors over many months, culminating in a writing workshop to prepare this text., Results: The results of DNA analysis can be used to diagnose or predict rare diseases that are caused by a mutation in a single gene. However, while there are a number of genetic factors that contribute to common diseases, the ability to predict whether an individual will develop that condition is limited by the overall heritability of the condition. Environmental factors (such as lifestyle) are likely to be more useful in predicting common disease than genomic testing. Genomic tests may be of use to inform management of diseases in specific situations., Conclusions: Genomic testing will be of use in diagnosing disorders due to single gene mutations, but the use of genomic testing to predict the chance of a patient being affected in the future by a common disease is unlikely to be a realistic option within a health service setting., Relevance to Clinical Practice: Nurses will increasingly be involved in the use of genomic tests in mainstream patient care. However, they need to understand and be able to explain to patients the practical applications of and limitations of such tests., (© 2015 John Wiley & Sons Ltd.)

Aim: 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., Background: One result of growth in worldwide Internet and mobile phone usage is the increased ability to source health information online and to use social media sites including Facebook and Twitter. Although social media have been used in previous health research, there is a lack of literature on the use of Twitter in health research., Design: A cross-sectional survey., Method: We report a novel recruitment method via a social networking site between May and August 2012. Through a Twitter account, we tweeted and requested other Twitter users to retweet our invitation to be involved in the study. Tweets contained a unique URL directing participants to an online survey hosted on the Survey Monkey™ website., Findings: Over 11 weeks, 749 original tweets were posted by the researcher. A total of 529 mothers accessed the survey as a result of 359 researcher tweets and subsequent retweets that were seen by Twitter users. The survey was fully completed by 299 (56·5%) participants., Conclusion: Twitter is a cost-effective means of recruitment, enabling engagement with potentially difficult-to-reach populations, providing participants with transparency, anonymity and a more accessible method by which to participate in health research., (© 2013 John Wiley & Sons Ltd.)

Aim: To report a review of a genetics education framework using a consensus approach to agree on a contemporary and comprehensive revised framework., Background: 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 promote nursing competence in genetics, indicated that review was timely., Design: A structured, iterative, primarily qualitative approach, based on a nominal group technique., Method: A meeting convened in 2010 involved stakeholders in UK nursing education, practice and management, including patient representatives (n = 30). A consensus approach was used to solicit participants' views on the individual/family needs identified from real-life stories of people affected by genetic conditions and the nurses' knowledge, skills and attitudes needed to meet those needs. Five groups considered the stories in iterative rounds, reviewing comments from previous groups. Omissions and deficiencies were identified by mapping resulting themes to the original framework. Anonymous voting captured views. Educators at a second meeting developed learning outcomes for the final framework., Findings: Deficiencies in relation to Advocacy, Information management and Ongoing care were identified. All competencies of the original framework were revised, adding an eighth competency to make explicit the need for ongoing care of the individual/family., Conclusion: Modifications to the framework reflect individual/family needs and are relevant to the nursing role. The approach promoted engagement in a complex issue and provides a framework to guide nurse education in genetics/genomics; however, nursing leadership is crucial to successful implementation., (© 2013 The Authors. Journal of Advanced Nursing published by John Wiley & Sons Ltd.)

Aim: This article is a report of a study of informed consent in people with a learning disability. The aims of the study were to explore the information needs of people with mild-to-moderate learning disabilities with respect to consent for blood tests and to identify ways of facilitating informed consent., Background: The recent political agenda for social change in the UK has emphasized the right of people with a learning disability to have more autonomy and make their own decisions. As in other countries, there has also been a shift towards shared decision-making in healthcare practice., Design: Qualitative study using an ethnographic approach., Methods: An ethnographic approach was used for this qualitative study. Phase 1 involved observation of six participants with a learning disability having a routine blood test in general practice, followed by semi-structured interviews with 14 participants with a learning disability in Phase 2. Data were collected between February 2009-February 2010., Findings: The data showed that consent procedures were often inadequate and provision of information to patients prior to a blood test was variable. People with a learning disability expressed clearly their information requirements when having a routine blood test; this included not wanting any information in some cases., Conclusions: Healthcare practitioners and people with a learning disability need to be familiar with current consent law in their own country to facilitate valid consent in the healthcare context. This study demonstrated the value of qualitative research in exploring the knowledge and attitudes of people with learning disability., (© 2012 Blackwell Publishing Ltd.)

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 relationships in PHN. Using a background literature review as a foundation, our qualitative mixed method strategy involved a comparative case-study analysis based on the authors' participant observation in two distinct postnatal group settings. Our findings suggest that participant observation facilitates the advancement of social research relationships through practitioner-research management of role conflict. Reflexivity and reciprocity is an emergent relational process, which relies upon a de-professionalization of the traditional PHN role. Conversely, social research relationships help build PHN capacity for family health needs assessment. Thus, we contend that the application of participant observation enables the development of social research relationships, which advance the practice of PHN in postnatal support settings., (© 2013 Wiley Periodicals, Inc.)

Aim: To report a study of Italian nurses' understanding of genetics. The objectives were to explore nurses' basic knowledge of genetics, their perceptions of the relevance of genetics and their opinions about the role of the genetic nurse., Background: As the knowledge of the genetic basis for disease has developed, pressure to give genetic healthcare services for a larger number of individuals has increased. Specialist genetic nurses currently work in many countries; however, there are very few specialist genetic nurses in Italy and the preparedness of Italian nurses to give care for people with or at risk for genetic conditions is unclear., Design: A cross-sectional survey., Methods: The survey was administered over 3 months during 2011. Registered Nurses aged 21-65 years were recruited via the website of the Italian nurse registration body, social network sites, hand-distributed flyers and email. Three hundred and eight-five (90%) nurses completed the survey. Data were analysed using descriptive statistics, Kruskal-Wallis tests for distribution and Spearman's Rho analysis of correlations., Results: The majority of respondents correctly answered at least four of five genetics knowledge questions. There were no statistically significant difference between knowledge scores when analysed according to age, but scores were positively correlated with higher academic qualifications and previous genetics education. A minority of respondents believed genetics was highly relevant to the nursing role., Conclusion: It is essential to ensure that educational provision for nurses includes not only the genetic concepts underpinning health and disease, but also how these are applied to nursing care., (© 2012 Blackwell Publishing Ltd.)

Aim:   To ascertain the extent to which nurses are achieving the core competences in genetics appropriate for nursing practice., Background:   There is an increasing focus on genetics in nursing, and relevant core competences have been developed. However, it is unclear whether nurses are achieving these competences., Data Sources:   Four databases (CINAHL, Medline, The Allied and Complementary Medicine Database, and British Nursing Index) were searched. Hand searching of relevant reference lists and author names was also conducted., Design: Systematic review., Review Methods:   The systematic review was undertaken using methods described by the Centre for Reviews and Dissemination (University of York, 2008). Research studies published in English between January 2000-January 2011 reporting data focussing on nurse competence in genetics were eligible for inclusion. Data were abstracted for inclusion in a table and subjected to thematic analysis: due to diversity of studies, a meta-analysis was not performed., Results:   Of 269 papers retrieved, 13 were eligible for inclusion. There were five main themes: knowledge, experience in using skills, ethical practice, perceived relevance, and confidence. Although the majority of participants believed genetics was relevant to their role, their knowledge of genetic concepts was generally poor; however, most studies measured self-reported knowledge rather than assessing actual knowledge., Conclusions:   There is little evidence on this topic, but it does appear from the available evidence that nurses are not demonstrating the competences needed to offer holistic health care to people with genetic conditions. Pre- and post-registration programmes must be enhanced to include genetic health care., (© 2012 Blackwell Publishing Ltd.)

Aim: To examine and compare the personal concerns of family members providing care for people with Huntington disease in the United Kingdom and the United States., Background: Family carers of people with Huntington disease may feel burdened by caregiving responsibilities and concerned about illness risk for relatives., Method: A mailed personal concerns survey was completed by 108 United Kingdom and 119 United States adult family carers of people with Huntington disease in 2006 and 2007. Survey responses included frequency and intensity of concerns, and narrative comments. Data were analysed using descriptive statistics of the products of frequency and intensity of reaction scores to identify a personal concerns index for items with the twelve highest combined scores. Factor analysis identified three factors, which were compared between respondents by factor and items within factors using t tests mean frequency by intensity scores. Narrative comments were thematically analysed., Results: Three main factors were labelled impact of role change, sense of isolation and concerns for children. Within the role change factor, United States family caregivers had significantly higher concerns about family finances and United Kingdom carers expressed significantly greater personal sadness. Both groups expressed concern about isolation from family. Although family carers in both countries expressed concern about their children, those of United States caregivers were significantly higher., Conclusion: Further studies are required to identify benefits of support services that are specific to carer concerns and consistent with national healthcare systems., (© 2011 Blackwell Publishing Ltd.)

Aims and Objectives: To compare the accuracy and appropriateness of auscultatory (manual) and oscillometric (automated) devices for measuring blood pressure in clinical settings., Background: Accurate measurement of blood pressure is integral to early recognition of deterioration in the condition of a patient. Despite recommendations regarding the use of auscultatory devices in situations where treatment decisions are made dependent on blood readings, the use of automated machines is becoming common practice., Design: Systematic review., Methods: A search of the Medline, CINAHLPlus and The Cochrane Library databases was undertaken for papers published in English between January 1997-May 2009. Sixteen studies were identified that fulfilled the inclusion criteria. After quality assessment, all were included in the review. Results are presented in tabular and narrative form., Results: In 10 of the studies reviewed, the authors came to the conclusion that oscillometric devices were less accurate than auscultatory devices. However, in most cases the oscillometric device appears sufficiently accurate for clinical use, the exceptions being use with hypertensive patients, patients with arrhythmia and after trauma. Only two studies assessed the comparative accuracy of aneroid devices, and these indicated that they were more accurate than oscillometric devices, but the differences were not clinically important., Conclusions: There are situations where the substitution of oscillometric for auscultatory devices could have particularly serious repercussions for the patient, such as when the patient is either hypertensive or hypotensive. However, further research is required on the use of aneroid sphygmomanometers as a replacement for mercury devices., Relevance to Clinical Practice: Practitioners should be made aware of the need to use auscultatory devices in specific circumstances, such as in management of hypertension, after the patient has experienced trauma or where there is significant potential for deterioration in the patient's condition., (© 2011 Blackwell Publishing Ltd.)

Aim: This paper is a report of a study of the perceptions of family caregivers regarding the availability and adequacy of health and social care services for their family member with Huntington disease, and to compare findings from these reports in United Kingdom and United States of America samples., Background: Huntington disease is an inherited neurodegenerative condition. Family members often take responsibility for care of relatives with long-term conditions. Studies have demonstrated there are both positive and negative outcomes for carers., Methods: During 2006 and 2007, respondents from the United Kingdom (n = 108) and the United States (n = 119) who were caring for a relative affected with Huntington disease completed the Community Health Care Services Scale to identify areas of concern and the extent to which specific issues bothered carers. Data were analysed using statistical tests including chi-square, t-tests and factor analysis. Results were compared between carers in the two cohorts., Results: Three main factors were derived: 'community resources', 'individualized care' and 'knowledge of Huntington disease'. Carers had concerns about the knowledge of healthcare professionals providing care and thought that there were insufficient services to support them and the affected person. There were different challenges for carers when the affected person had a long-term neurodegenerative condition because these carers were also likely to have responsibilities for earning and caring for children., Conclusion: Comprehensive facilities and resources are needed to support families affected by long-term complex conditions. Healthcare professionals need to be aware of the health needs of carers as well as those of the affected person.

Aim: This paper is a report of a study conducted to examine the emotional experience of caregiving by family carers of people with Huntington disease and to describe strategies they used to deal with that experience., Background: Huntington disease, commonly diagnosed in young to middle adulthood, is an inherited single gene disorder involving loss of cognitive, motor and neuropsychiatric function. Many family members become caregivers as well as continuing as parents and wage earners. The emotional aspects of caregiving contribute to mental health risks for family members., Methods: Focus groups were conducted with 42 adult carers of people with Huntington disease in four United States and two Canadian Huntington disease centers between 2001 and 2005. Data were analyzed through descriptive coding and thematic analysis., Findings: All participants reported multiple aspects of emotional distress. Being a carer was described as experiencing disintegration of one's life. Carers attempted to cope by seeking comfort from selected family members, anticipating the time when the care recipient had died and/or using prescription medications. Spousal carers were distressed by the loss of their relationship with their spouse and dealt with this by no longer regarding the person as an intimate partner. Carers were concerned about the disease risk for children in their families and hoped for a cure., Conclusion: Emotional distress can compromise the well-being of family carers, who attempt to maintain multiple roles. Nurses should monitor carer mental health, identify sources of emotional distress and support effective strategies used by carers to mediate distress.

Aim: This paper is a report of a review to investigate the use of games to support classroom learning in the health sciences., Background: One aim of education in the health sciences is to enable learners to develop professional competence. Students have a range of learning styles and innovative teaching strategies assist in creating a dynamic learning environment. New attitudes towards experiential learning methods have contributed to the expansion of gaming as a strategy., Data Sources: A search for studies published between January 1980 and June 2008 was undertaken, using appropriate search terms. The databases searched were: British Education Index, British Nursing Index, The Cochrane Library, CINAHLPlus, Medline, PubMed, ERIC, PsychInfo and Australian Education Index., Methods: All publications and theses identified through the search were assessed for relevance. Sixteen papers reporting empirical studies or reviews that involved comparison of gaming with didactic methods were included., Results: The limited research available indicates that, while both traditional didactic methods and gaming have been successful in increasing student knowledge, neither method is clearly more helpful to students. The use of games generally enhances student enjoyment and may improve long-term retention of information., Conclusion: While the use of games can be viewed as a viable teaching strategy, care should be exercised in the use of specific games that have not been assessed objectively. Further research on the use of gaming is needed to enable educators to gaming techniques appropriately for the benefit of students and, ultimately, patients.

Aim: This paper is a report of an integrative review of informed consent to healthcare interventions in people with learning disabilities., Background: Consent to treatment lies at the heart of the relationship between patient and healthcare professional. In order for people with learning disabilities to have equity of access to health care, they need to be able to give informed consent to health interventions--or be assessed as incompetent to give consent., Data Sources: The British Nursing Index (BNI), CINAHL, MEDLINE, Social Care Online, ERIC and ASSIA and PsycINFO databases were searched using the search terms: Consent or informed choice or capacity or consent to treat* or consent to examin* AND Learning disab* or intellectual* disab* or mental* retard* or learning difficult* or mental* handicap*. The search was limited to papers published in English from January 1990 to March 2007., Review Methods: An integrative review was conducted and the data analysed thematically., Results: Twenty-two studies were reviewed. The main themes identified were: life experience, interaction between healthcare professionals and participants, ability to consent, and psychometric variables. A consensus seemed to emerge that capacity to consent is greater in people with higher cognitive ability and verbal skills, but that the attitudes and behaviour of healthcare professionals was also a crucial factor., Conclusion: The findings support use of the functional approach to assessing mental capacity for the purpose of obtaining informed consent. Future research into informed consent in people with learning disabilities is needed using real life situations rather than hypothetical vignettes.

Aim: The aim of this research was to identify the needs and coping strategies of individuals with Huntington disease and their family members/carers and to ascertain the extent to which they were supported by the type of specialised service provided in this unit., Background: The duration of the illness may be up to 30 years and there are far reaching implications for the affected person, family members and carers. Services for families need to provide expert psychological and practical support, whilst remaining planned and flexible. The aim of this research was to identify needs and coping strategies of individuals with Huntington disease and their carers and ascertain the extent to which they were supported by a specialised community service., Methods: Five focus groups and three individual interviews were used to gather data from affected individuals, family, carers and staff of the unit (n = 33). A semi-structured discussion guide was used in every case. Data were analysed using an inductive coding technique., Results: Three main themes emerged; (i) Transitions and the journey, (ii) Challenges in finding and providing support and (iii) The role of the unit in providing supportive care. While the service was seen as supportive, the need for flexibility was emphasised to facilitate the transition from unaffected to affected status. Affected individuals felt it was important to be known as the person they had been, despite the changes due to the disease., Conclusions: Provision of service in a dedicated unit is an appropriate way to support affected patients and their carers. Enhancing understanding of the disease and allowing the individual to make choices can assist coping with this challenging disease., Relevance to Clinical Practice: It is helpful to allow patients control over timing and frequency of contact with professionals. Improving understanding of the condition in the public and health professionals may enable patients to access a greater range of social activities.

Aim: This paper is a report of a project to introduce and evaluate methods for using information and communication technologies to involve academic staff, students, and patients in a common synchronous e-learning environment., Background: Although there is no strong evidence for this, there may be benefits in 'efficiency' and for patients and students from shared e-learning. Asynchronous e-learning methods in nursing education are well-established, but synchronous methods have received less attention. However, if feasible, because they are more akin to face-to-face contact, they may be more suitable for patients and may provide a quicker development path for e-learning., Method: We evaluated three synchronous technologies: (1) non-commercial satellite interactive television (TV); (2) Internet videoconferencing; and (3) webcasting, through feasibility studies of 'TV-style' panel discussions on health topics and seminars with interaction with viewers by e-mail, inter-site research meetings with face-to-face interaction, user surveys and literature reviews., Results: Interactive satellite TV required the booking of rooms with specialized receiving equipment. This limited accessibility contributed to the high cost per participant. Videoconferencing proved acceptable for cross-site research meetings and is proposed for joint meetings for doctoral students with overseas centres but has the same access issues as interactive satellite TV. Webcasting is accessible to most users with Internet access and provides a feasible means of delivery of synchronous interactive material. Reported live webcasts have had audiences of thousands. Presentation formats: panel discussions with mixed patient-professional membership and mixed patient-professional audiences were acceptable to participants but engaging academic staff and students was problematic. This may be overcome with webcasting but there may still be barriers such as timetabling and students' concerns about learning in the same 'live' environment as patients., Conclusions: Limitations in accessibility have been demonstrated for both satellite broadcasts and videoconferencing. Webcasting proved the most acceptable way of supporting a common synchronous environment. Having identified a feasible synchronous method we can now investigate hypothesized benefits for staff, students, and patients of combined e-health e-learning.

Aim: This paper presents a study investigating the need for closure in users of a genetic health service., Background: Genetic healthcare services are used by people who are concerned about a genetic condition in the family. Many clients expect information about the condition, risk assessment and discussion of options available to minimize the impact of the condition on the family. Some use the information to try to obtain certainty or cognitive closure. The psychological theory termed 'need for cognitive closure' explains individual differences in motivation to seek information. The tendency to seek closure can be measured by the Need for Closure Scale, which has five sub-scales: preference for order, preference for predictability, discomfort with ambiguity, decisiveness and closed-mindedness., Methods: Clients who were referred to our genetic service in 1998 were approached before personal contact with staff of the genetic service. Fifty-two people completed the need for closure scale questionnaire. Six months after the genetic consultation, participants were asked to complete the questionnaire again (n = 45). The data were statistically analysed using Cronbach's alpha, paired t-tests and independent t-tests., Results: There were no statistically significant differences in Need for Closure Scale scores in this cohort before and after the genetic consultation. Participants scored highly on the preference for order and discomfort with ambiguity sub-scales, but scores for closed-mindedness were low. Intolerance of ambiguity was statistically significantly higher in participants whose main concerns centred on their children., Conclusions: This psychological theory can help healthcare professionals to understand the motivation of clients who seek information from genetic services, and enhance understanding of those who avoid using the service. It cannot be assumed that additional knowledge is helpful to all clients, nor that knowledge of bad news is necessarily an adverse event if prior uncertainty has existed.

Aim: The aim of this study was to assess understanding of genetics and attitudes towards genetic testing for clinical and research purposes in a group of older adults in the UK., Background: Increasingly, genomics will have an impact on the diagnosis, prevention and treatment of common diseases and the prescription of drugs. The chance of being affected by a medical condition increases with age and therefore the use of genetic testing as part of general health-care practice has an impact on the older population., Methods: Older adults were recruited to two focus groups (n=7 and n=10 respectively). Focus group discussions were guided by a series of questions and were audiotaped. The transcribed data were coded for significant statements, which were organized under thematic headings., Results: The mean age of participants was 76 years. The main themes to emerge were: understanding, approach to genetic testing and conditions for testing. In this cohort, the older adults were largely unsure about the underlying scientific basis of genetics but were keen to learn more. While enhanced medical knowledge could enable preventive measures to be taken and so reduce suffering, it was acknowledged that for some people knowing the future could potentially cause anxiety and harm. Participants were wary about research being used to benefit private companies and voiced ethical concerns about potential coercion to be tested and the misuse of science. However, all participants had an altruistic approach that influenced their willingness to be tested to benefit others in their family or the wider community. Conditions for testing included provision of information about the purpose of testing and feedback on the results., Conclusions: Older adults are positive about the opportunities presented by genetic testing for clinical reasons and research, but need accurate information about the reasons for and implications of such testing., Relevance to Clinical Practice: The results of this study confirm the need for nurses to be proactive in developing the genetic competencies required to detect potential familial disease, make appropriate referrals to genetic services and ensure informed consent is obtained for genetic testing.