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431.
We explored how individuals at-risk for HD who have or have not been tested make reproductive decisions and what factors are
involved. We interviewed 21 individuals (8 with and 4 without the mutation, and 9 un-tested) in-depth for 2 hours each. At-risk
individuals faced a difficult series of dilemmas of whether to: get pregnant and deliver, have fetal testing, have pre-implantation
genetic diagnosis, adopt, or have no children. These individuals weighed competing desires and concerns: their own desires
vs. those of spouses vs. broader moral concerns (e.g., to end the disease; and/or follow dictates against abortion) vs. perceptions
of the interests of current or future offspring. Quandaries arose of how much and to whom to feel responsible. Some changed
their perspectives over time (e.g., first “gambling,” then being more cautious). These data have critical implications for
genetic counselors and other health care workers and future research, particularly as more genetic tests become available. 相似文献
432.
This Editorial provides background information to inform the report from the United Kingdom (UK) and Eire Association of Genetic
Nurses and Counsellors (AGNC) Supervision Working Group on Genetic Counselling Supervision. We begin by introducing the context
of practice as a genetic counselor in the UK and then follow with an overview of events that have happened in our profession
that led to the need and creation of the report. Genetic counseling supervision has become instrumental to our practice, training
and registration as genetic counselors in the UK. 相似文献
433.
Disclosure of Genetics Research Results after the Death of the Patient Participant: A Qualitative Study of the Impact on Relatives 总被引:1,自引:0,他引:1
Ormondroyd E Moynihan C Watson M Foster C Davolls S Ardern-Jones A Eeles R 《Journal of genetic counseling》2007,16(4):527-538
When a gene mutation is identified in a research study following the death of the study participant, it is not clear whether
such information should be made available to relatives. We report here an evaluation of the impact on relatives of being informed
of study results that detected pathogenic BRCA2 mutations in a male relative, now deceased, who had early onset (under the age of 55) prostate cancer. The breast and ovarian
cancer risk was unknown to the living relatives. Qualitative analysis of interviews with thirteen relatives indicated that
those who had a higher risk perception, resulting from an awareness of cancer family history or experiential knowledge of
cancer in their family, tended to adjust more easily to the results. All participants believed that genetics research results
of clinical significance should be fed back to relatives. Those who were fully aware of the BRCA2 results and implications for themselves felt they had benefited from the information, irrespective of whether or not they
had elected for genetic testing, because of the consequent availability of surveillance programs. Initial anxiety upon learning
about the BRCA2 result was alleviated by genetic counselling. Factors influencing those who have not engaged with the information included
scepticism related to the relative who attempted to inform them, young age and fear of cancer. Those who had not sought genetic
counselling did not attempt further dissemination, and some were not undergoing regular screening. Implications for informed
consent in genetics research programs, and the requirement for genetic counselling when research results are disclosed, are
discussed.
Names have been changed to protect the privacy of study participants. 相似文献
434.
McAllister M Payne K Nicholls S MacLeod R Donnai D Davies LM 《Journal of genetic counseling》2007,16(1):71-83
Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service
providers or adapted from measures used in other areas of healthcare. Many of the ‘patients’ in clinical genetics are healthy
but at risk of developing or transmitting a condition. Usually no pharmacological or surgical treatment is offered, although
information-giving is an objective of most consultations. We argue that services should be evaluated on the basis of how well
they alleviate the effects of disease, from a patient perspective. This paper describes a qualitative study using seven focus
groups with health professionals, patients and patient representatives. Social and emotional effects of genetics diseases
were identified. Some differences emerged between the effects identified by health professionals and those identified by patients.
These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for
clinical genetics services. 相似文献
435.
Increasingly, the genetic counseling profession is recognizing the need for greater ethnic and gender diversity. Recruitment
and retention efforts may be enhanced by better understanding of the experience of individuals considered to be underrepresented
in the profession. In this qualitative study, 8 genetic counseling students and 7 practicing genetic counselors who were ethnic
minority and/or male participated in semi-structured telephone interviews regarding how they were introduced to the field,
perceived career supports and barriers, their experiences within training programs and the field, and suggestions for increasing
diversity. Introduction to the field tended to be late and accidental. There were several career supports (e.g., field combines science and helping others) and barriers (e.g., lack of information
about the field). Participant experiences, although primarily positive, included instances of passive, unintentional discrimination;
and there were internal and external pressures to be diversity experts and positive representatives of their group. Participants reported positively impacting colleagues’ cultural competency and offering a different presence within clinical settings. Suggestions for increasing diversity and research recommendations are given. 相似文献
436.
Heather Skirton 《Journal of genetic counseling》2001,10(4):311-329
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. 相似文献
437.
Tiffani A. DeMarco Beth N. Peshkin Barbara M. Brogan 《Journal of genetic counseling》2001,10(5):379-395
We present three vignettes based on participants counseled as part of a clinical research program. These include a young unaffected woman at risk for a familial mutation, a newly diagnosed breast cancer patient, and a woman with recurrent ovarian cancer. Through the use of detailed vignettes, multifaceted issues that arise in cancer genetic counseling are highlighted. 相似文献
438.
“人类所有的疾病都是基因病”吗 总被引:1,自引:1,他引:0
樊嘉禄 《医学与哲学(人文社会医学版)》2001,22(5):24-26
人类基因组图谱(HGP)研究大大加深了人们对疾病的理解。然而,作为人体这个复杂系统的一种非常态特征,疾病的发生不仅受遗传因素的影响,还受到身体内部其他因素以及自然环境、社会环境等外部因素的影响。所以,并不能简单地将所有的疾病都归结为基因病。 相似文献
439.
This study uses a multitrait, multimethod (MTMM) approach to investigate the genetic and environmental etiologies of childhood deviant peer affiliation (DPA) and problem behavior (PROB). The variability of genetic and environmental estimates by agent and method is also examined. A total of 77 monozygotic and 72 dizygotic twin pairs and each twin's close friend were assessed. The informants included parents, teachers, and twins, and the methods involved questionnaire reports and coder ratings of videotaped dyadic interactions between each twin and their close friend. Twin intraclass correlations and univariate models attributed DPA and PROB to genetic, and shared and nonshared environmental effects. Parameter estimates differed by rater and method, however. Results accentuate the imperative to attend to method effects inherent in MTMM behavioral geneticresearch. 相似文献
440.
In the state of Victoria, Australia, a government funded genetic counseling service exists to meet the needs of families. An audit showed that many families do not use this service after the birth of a child with a genetic problem. To investigate this we surveyed families of children born with Down syndrome over 2 years in Victoria. Questionnaires were completed by 74 mothers, of whom only 18 had received genetic counseling between the birth and the time of the study (mean 3.5 years). Of those not receiving genetic counseling, 71% said they were not offered or had not heard of it. Mothers who had genetic counseling were younger than those who had not, and were more likely to have attended University. Those who had genetic counseling indicated less satisfaction with care at the diagnosis and were more likely to perceive their child as unwell at birth than those who were aware of genetic counseling but did not have it. Of those who did not have genetic counseling, over half were unclear about what it is, although 74% agreed with the statement genetic counseling is most useful when planning to have another child. Of those who had heard of genetic counseling, 73% said they were not sure how it could help. Many families with children with Down syndrome are not aware of the existence or functions of genetic counseling. With greater awareness, some may still choose not to have genetic counseling, but others enunciated needs that could be met by this service if it were offered to them. 相似文献