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1.
Long QT syndrome (LQTS) is a congenital disorder associated with increased risk of sudden cardiac death; LQTS patients and
their families are offered diagnostic or predictive genetic testing. The purpose of this qualitative study was to investigate
the psychosocial aspects of living with LQTS, to identify LQTS patients’ daily life challenges and coping strategies, and
to describe their experiences with healthcare services. In-depth interviews were conducted with seven individuals who had
been tested for long QT genetic mutation. Four of these participants had an implantable cardiac defibrillator (ICD). The participants
reported that early and gradually acquired knowledge of the syndrome was an advantage. They also reported experiencing worries
and limitations in daily life, but their main concern was for their children or grandchildren. Healthcare providers’ minimal
knowledge of LQTS resulted in uncertainty, misinformation, and even wrong advice regarding treatment. The results suggest
that regional centers, with the appropriate expertise, should investigate and counsel LQTS patients and their families. 相似文献
2.
Andrew Smart 《Journal of genetic counseling》2010,19(6):630-639
This paper reports data from a qualitative study of patient experiences of DNA testing and cascade screening for hypertrophic
cardiomyopathy and long QT syndrome, cardiac conditions that place sufferers at risk of sudden death. The paper particularly
focuses on potential impediments to testing and screening. Semi-structured interviews were undertaken with a purposive sample
of 27 people in the UK who had undergone testing. In the context of the uncertainties that can characterize experiences of
these disorders, the majority of participants in this sample embraced testing and screening as a way of providing health information
for themselves or their relatives (particularly children). There was nevertheless evidence of ambivalence about the value
and impact of the DNA test information which could influence participants’ dispositions toward testing, and play into dilemmas
about family communication. Other concerns arose in relation to communicating about these disorders, decisions to involve
elderly relatives and pressures relating to family responsibility. The evidence of ambivalence provides insight into why some
people may be resistant to testing, screening and sharing information. The findings about communication processes indicate
potential areas of concern for the cascading process. 相似文献
3.
Genetic services for deafness are being increasingly sought due to the introduction of early hearing detection and intervention
programs, as well as the rapid progress in the identification of deafness genes. This study aimed to assess the motivations
of consumers for pursuing genetic testing as well as their preferences for provision of these services. We conducted 5 focus
groups consisting of hearing parents of deaf children, deaf parents, and unmarried deaf adults. Motivations for pursuing genetic
testing included determining the etiology, helping to alleviate the guilt associated with the diagnosis of hearing loss in
a child, and acquiring information to help them and other family members prepare for the future. Most participants thought
that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. For culturally
Deaf individuals, the communication method was seen as more important than the type of professional. Parents preferred that
genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing
loss. 相似文献
4.
相雪梅 《医学与哲学(人文社会医学版)》2009,(6):62-64
临盘床中某些心律失常的发生具有性别差异。女性同男性相比,其平均静息心率快,QT间期长,QRS波群时间短,QRS电压低。女性有更高的病态窦房结综合征、不适当性窦性心动过速、房室结折返性心动过速、右室特发性室速和长QT间期综合征引起的心律失常事件的发生率。而男性房室传导阻滞、颈动脉窦综合征、房颤、旁路导致的室上性心动过速、预激综合征、室颤、猝死、Brugada综合征和触发型室速的发生率高。这些差异有的与心律失常伴发的器质性心脏病男女发生率不同有关,另外性激素对离子通道的功能、表达的影响以及自主神经张力的差异在这些差异的产生中也具有重要作用。了解这些差异对女性心律失常处理具有重要的指导作用。 相似文献
5.
Jonathan A. Smith Caroline Dancyger Melissa Wallace Chris Jacobs Susan Michie 《Journal of genetic counseling》2011,20(1):23-34
It is important to study communication processes in families where members are undergoing testing for genetic conditions because
the information received from such testing is crucial not just to the individual concerned but also to other members of the
biological family. This topic has received little research attention, in part because of the complexities of methodology required.
In this paper we present the development of a method specifically designed for the examination of the content and process
of communication of genetic information in families. The method aims to maximize ecological validity as far as is possible.
We describe how participants and other family members are recruited and how data were collected. We outline three main data
analytic strategies: a graphic to show how genetic information changes as it flows from clinic and through the family, an
intensive qualitative analysis of the meaning and impact of the genetic information to different family members, and an informative
genogram which plots key family dynamics. This method will be illustrated in relation to a study of ten family-groups where
one individual has been found to carry a genetic mutation predisposing them to hereditary breast and ovarian cancer. 相似文献
6.
Kelly Hitch Galen Joseph Jenna Guiltinan Jessica Kianmahd Janey Youngblom Amie Blanco 《Journal of genetic counseling》2014,23(4):539-551
Whole exome sequencing (WES) uses next generation sequencing technology to provide information on nearly all functional, protein-coding regions in an individual’s genome. Due to the vast amount of information and incidental findings that can be generated from this technology, patient preferences must be investigated to help clinicians consent and return results to patients. Patients (n?=?19) who were previously clinically diagnosed with Lynch syndrome, but received uninformative negative Lynch syndrome genetic results through traditional molecular testing methods participated in semi-structured interviews after WES testing but before return of results to explore their views of WES and preferences for return of results. Analyses of interview results found that nearly all participants believed that the benefits of receiving all possible results generated from WES outweighed the undesirable effects. The majority of participants conveyed that relative to coping with a cancer diagnosis, information generated from WES would be manageable. Importantly, participants’ experience with Lynch syndrome influenced their notions of genetic determinism, tolerance for uncertain results, and family communication plans. Participants would prefer to receive WES results in person from a genetic counselor or medical geneticist so that an expert could help explain the meaning and implications of the potentially large quantity and range of complicated results. These results underscore the need to study various populations with regard to the clinical use of WES in order to effectively and empathetically communicate the possible implications of this new technology and return results. 相似文献
7.
8.
Since Long QT syndrome and Hypertrophic cardiomyopathy are inherited cardiac disorders that may cause syncope, palpitations,
serious arrhythmias, and sudden cardiac death, at-risk individuals may experience heart-focused anxiety. In a prospective
multi-site study, 126 Norwegian patients attending genetic counseling were followed 1 year with multiple administration of
questionnaires, including the Cardiac Anxiety Questionnaire, measuring three distinct symptoms of heart-focused anxiety- avoidance, attention, and fear—in mixed linear analyses. Overall, at 1-year follow-up, patients with clinical diagnosis as compared to patients at genetic
risk had significantly higher scores of avoidance (p < .002), attention (p < .005), and fear (p < .007). Sudden cardiac death in close relatives, uncertainty whether other relatives previously had undergone genetic testing,
patients’ perceived general health, self-efficacy expectations and procedural satisfaction with genetic counseling were influential
in predicting the different symptoms of heart-focused anxiety over time. 相似文献
9.
K. M. Stuttgen J. M. Bollinger R. L. Dvoskin A. McCague B. Shpritz J. Brandt Debra J. H. Mathews 《Journal of genetic counseling》2018,27(6):1428-1437
This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington’s disease (HD) 20–30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct-to-consumer (DTC) genetic testing for HD is acceptable, and whether incidental/secondary findings should be returned in the context of whole exome/genome sequencing. Most—but not all—participants were in favor of an individual’s right to decide whether and when to pursue HD testing, use of a formal HD testing protocol, and returning medically actionable secondary findings. However, the majority of participants were opposed not only to physician ordering and DTC HD testing in the absence of a formal protocol but also to returning a secondary finding of an expanded HD allele. This study presents the opinions of a unique and extremely well-informed cohort on issues that need to be taken into careful consideration by genetic counselors and other medical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, and making decisions about whether and how to return incidental findings. 相似文献
10.
Benjamin M. Helm Samantha L. Freeze Katherine G. Spoonamore Stephanie M. Ware Mark D. Ayers Adam C. Kean 《Journal of genetic counseling》2018,27(3):558-564
There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic. The most expected and common indications for genetic counselor involvement were related to suspicion for primary heritable arrhythmia conditions, though patients seen in this clinic display a wide range of cardiac problems and many additional indications for genetic evaluation were identified. Roughly 75% (211/276) of encounters were for personal history of confirmed/suspected heritable disease, including cardiac channelopathies, cardiomyopathies, ventricular arrhythmias, and congenital heart defects, and 25% (65/276) were for family history of disease, including long QT syndrome and sudden unexplained death. Overall, this study shows that about 1 in 7 patients seen in a pediatric arrhythmia clinic have indications that likely benefit from genetic counselor involvement and care. Similar service delivery models embedding genetic counselors in pediatric arrhythmia clinics should be encouraged, and this model could be emulated to increase patient access to genetic counseling services. 相似文献
11.
12.
Sarah Wright Mary Porteous Diane Stirling Julia Lawton Oliver Young Charlie Gourley Nina Hallowell 《Journal of genetic counseling》2018,27(6):1459-1472
This paper explores patients’ views and experiences of undergoing treatment-focused BRCA1 and BRCA2 genetic testing (TFGT), either offered following triaging to clinical genetics (breast cancer) or as part of a mainstreamed care pathway in oncology (ovarian cancer). Drawing on 26 in-depth interviews with patients with breast or ovarian cancer who had undergone TFGT, this retrospective study examines patients’ views of genetic testing at this point in their care pathway, focusing on issues, such as initial response to the offer of testing, motivations for undergoing testing, and views on care pathways. Patients were amenable to the incorporation of TFGT at an early stage in their cancer care irrespective of (any) prior anticipation of having a genetic test or family history. While patients were glad to have been offered TFGT as part of their care, some questioned the logic of the test’s timing in relation to their cancer treatment. Crucially, patients appeared unable to disentangle the treatment role of TFGT from its preventative function for self and other family members, suggesting that some may undergo TFGT to obtain information for others rather than for self. 相似文献
13.
Genetic counseling of teenagers is challenging and complex. The ability to think abstractly, a sense of self and independence from family all develop during adolescence. Predictive genetic testing counseling protocols presuppose that these qualities exist, requiring the at-risk individual to consider the short and long term consequences of testing as well as their motivations. Eighteen year olds are in transition from adolescence to adulthood; eligible for predictive genetic testing, they may not yet be independent of their family or able to articulate their feelings. This paper presents case studies from the authors' clinical practice to illustrate some of the difficulties faced by genetic counselors when 18 year olds request predictive testing for Hereditary Non-Polyposis Colorectal Cancer. By reflecting upon their experiences with these young adults and their families, the authors' intention is to generate discussion about genetic counseling strategies, particularly for predictive genetic testing, that are both age-appropriate and family-sensitive. 相似文献
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15.
Heart disease is the leading cause of death in the United States. Given that cardiovascular rehabilitation (CR) participation is the best secondary prevention of cardiac mortality, it is important to understand the challenges and motivations people experience while taking part in rehabilitation. The present qualitative study explored the treatment experiences of 20 women and 20 men at urban and rural rehabilitation clinics in Minnesota. Participants were equally divided based on the number of CR session completed (less than or equal to 18 vs. more than 18). The study’s primary aim was to articulate similarities and differences in the CR treatment experiences by gender. Data were gathered from individual interviews and analyzed using an inductive content analysis. Findings revealed that both women and men view CR as a means to move forward from their cardiac incident and achieve good health. Women were more likely than were men to be motivated by a perceived obligation to CR staff and improved quality of life. Men, in comparison, identified their commitment to CR as a need to complete a task. The study findings can help inform the design of rehabilitation programs and strengthen patient-centered interventions to enhance participation in treatment. 相似文献
16.
M. H. Huang Jacob Ebey Stewart Wolf 《Integrative psychological & behavioral science》1989,24(3):102-108
Abnormal prolongation of the QT interval of the ECG has been reported to indicate a hazard of sudden arrhythmic death. Therefore, with the aid of biofeedback from a newly devised instrument capable of measuring and recording the QT interval of the ECG in real time, ten healthy subjects, aided by biofeedback, attempted to shorten and also to lengthen QT. Although the changes achieved were relatively small, the ten subjects as a group were successful in both shortening and lenthening QT at the 0.01 level of significance. The degree of success varied, however, from person to person and from time to time in the same individual. If the findings reported here can be applied more generally to patients at risk for sudden death, and if biofeedback effects can be made to persist without reinforcement, it or other cognitive techniques may prove clinically useful for shortening QT. 相似文献
17.
Melissa A. Holman John Quillin Timothy P. York Claudia M. Testa Ami R. Rosen Virginia W. Norris 《Journal of genetic counseling》2018,27(5):1157-1166
Huntington disease (HD) is a progressive neurodegenerative disorder. Presymptomatic genetic testing allows at-risk individuals to clarify their risk status. Understanding the characteristics and motivations of individuals seeking HD presymptomatic genetic testing better equips genetic counselors and other healthcare professionals to provide comprehensive and personalized care. The aims of this study were to (1) determine whether the average age when individuals seek presymptomatic HD genetic testing has decreased over time, (2) assess motivations for seeking testing, (3) explore whether there is a relationship between age and motivations, and (4) explore genetic counselors’ perceptions of the shift in age. Data from the US HD testing centers (N?=?4) were analyzed. A small but statistically significant decrease in age of individuals seeking presymptomatic testing was observed (p?=?0.045). HD community members (N?=?77) were surveyed regarding presymptomatic testing motivations. Younger individuals were more likely than older individuals to cite “To learn whether or not you would develop HD” and “To make choices about further education or a career” compared to older individuals (p?<?0.05). Conversely, older individuals more frequently cited “To give children a better idea of their risk” (p?<?0.002). Sixteen percent of genetic counselors surveyed (6/37) perceived a change in age of testing. All of these respondents had provided HD testing for ten or more years and anecdotally believed the age at testing has decreased over time. Study results help providers personalize counseling based on patient’s age and serve as a starting point for more research into the relationship between age at testing and motivations for testing. 相似文献
18.
Caroline Dancyger Mel Wiseman Chris Jacobs Jonathan A. Smith Melissa Wallace Susan Michie 《Psychology & health》2013,28(8):1018-1035
Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants’ and recipients’ perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients’ and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals’ responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered. 相似文献
19.
Heather A. Douglas Rebekah J. Hamilton Robin E. Grubs 《Journal of genetic counseling》2009,18(5):418-435
Discovery of mutations in the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 can have emotional consequences for both the tested individual and his or her relatives. This secondary analysis study investigated
how BRCA testing impacts family dynamics and relationships. For the original study, a grounded theory inquiry, participants were recruited
from a hereditary breast/ovarian cancer syndrome support website and open-ended interviews were performed asking about individual
and family experiences after BRCA testing. All 12 participants whose interviews were included in the secondary analysis had a BRCA mutation. For the secondary analysis, thematic analysis was conducted and revealed three main themes characterizing the effect
of BRCA testing on family relationships: 1. That the first in the family to have testing or seek genetic counseling takes on a special
family role that can be difficult for them; 2. That discussions in the family often change; and 3. That individuals may feel
more or less connected to certain family members. These changes seemed to relate to family cancer history, relationships,
coping strategies, communication patterns, and mutation status. Genetic counselors might find it useful to explore these issues
in order to prepare clients before BRCA testing and to support them through shifts in family dynamics after disclosure of results. 相似文献
20.
Rowan Forbes Shepherd Tamara Kayali Browne Linda Warwick 《Journal of genetic counseling》2017,26(2):283-299
Ethical issues arise for genetic counselors when a client fails to disclose a genetic diagnosis of hereditary disease to family: they must consider the rights of the individual client to privacy and confidentiality as well as the rights of the family to know their genetic risk. Although considerable work has addressed issues of non-disclosure from the client’s perspective, there is a lack of qualitative research into how genetic counselors address this issue in practice. In this study, a qualitative approach was taken to investigate whether genetic counselors in Australia use a relational approach to encourage the disclosure of genetic information from hereditary breast and ovarian cancer (HBOC) clients among family members; and if so, how they use it. Semi-structured qualitative interviews were conducted with 16 genetic counselors from selected states across Australia. Data collection and analysis were guided by a basic iterative approach incorporating a hybrid methodology to thematic analysis. The findings provide indicative evidence of genetic counselors employing a relational approach in three escalating stages––covert, overt and authoritative––to encourage the disclosure of genetic information. The findings lend credence to the notion that genetic counselors envision a form of relational autonomy for their clients in the context of sharing genetic information, and they depart from individualistic conceptions of care/solely client-centered counseling when addressing the needs of other family members to know their genetic status. 相似文献