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151.
Jane Karp Karen L. Brown Margaret D. Sullivan Mary Jane Massie 《Journal of genetic counseling》1999,8(3):163-173
The goal of this pilot study was to test the usefulness of a six session psychoeducational support group for women at high genetic risk for breast cancer who were considering prophylactic mastectomy. The themes of the group sessions included overestimation of and anxiety about risk; desire for hard data; the emotional impact of watching a mother die of breast cancer; concerns about spouse reactions; self- and body image; the decision-making process; and confusion over whom to trust in decision making. Both the participants and the multidisciplinary leaders concluded that as a supplement to individual counseling, a support group is a beneficial and cost-effective treatment modality. Recommendations for the optimal format for such a group are described. 相似文献
152.
Neilson J 《Journal of genetic counseling》1999,8(1):37-46
The availability of genetic testing for Alzheimer's disease is anticipated to be widespread in the future. As an individual at risk with a family history of Alzheimer's disease, I discuss why I sought predictive tests and how I would use the information from such tests. I relay what I learned in my genetic counseling session, my response to the counseling process, and steps I have since taken. I discuss life planning, psychological and fear of discrimination issues from a patient's perspective. 相似文献
153.
Cystic fibrosis (CF) is one of the most commonly inherited recessive disorders in U.S. Caucasians, with a carrier frequency of approximately 1 in 29. Genetic counseling and CF mutation analysis has traditionally been offered to the affected patient and his/her extended family, in keeping with policy statements from professional organizations (ASHG, NSGC, ACOG). The target population for CF testing and counseling may be evolving after the release of the 1997 National Institutes of Health Consensus Statement, Genetic Testing for Cystic Fibrosis, which recommends that CF screening be offered to all preconceptional and pregnant couples. Genetic counseling for CF is complicated by reports of polymorphisms in the CF gene that are associated with symptoms that do not meet the diagnostic criteria for CF, such as bilateral congenital absence of the vas deferens, bronchiectasis, and idiopathic pancreatitis. To aid genetic counselors with these issues, this review explores the symptoms of CF, patient management, gene function, genetics, genotype/phenotype correlation, and genetic counseling issues. 相似文献
154.
Ilana Mittman William R. Crombleholme James R. Green Mitchell S. Golbus 《Journal of genetic counseling》1998,7(1):49-70
Latin and Asian-Pacific immigrants are the fastest growing new-comer groups in the U.S. contributing to 85% of immigration totals. New immigrants experience multiple barriers to accessing genetic counseling resulting from cultural, linguistic, financial, and educational factors as well as having unique perceptions on health, illness, reproduction, and life as a whole. In addition, new immigrants lack familiarity with Western medical practices as well as genetic risk and available interventions. We provided perinatal genetic services to 2430 clients, mostly new immigrants of Latin and Asian-Pacific descent over a period of 6 years. Counseling aides sharing the clients' cultural backgrounds were employed. A study assessing the efficacy of cross-cultural education regarding advanced maternal age risk and amniocentesis was implemented and linked to a database containing demographic and clinical information. Practical observations relating to cultural beliefs in the two groups relevant to perinatal genetic counseling were made. 相似文献
155.
In 1995, we formally established a multifaceted cancer genetics program of clinical services, research, and education at a general academic medical center. In the first year, 58 families, mostly physician referred, received cancer risk assessment and genetic counseling for a family and/or medical history of cancer. The primary reasons for seeking consultation were to determine their risk or their offspring's risk for developing certain cancers and to inquire about the availability of DNA testing for predisposition to breast, ovarian, or colon cancers. To assess the level of satisfaction with program services, 51 consultands (22% with a personal history of cancer) were interviewed independently by telephone 3–12 months after the session. One goal of the survey was to improve program service. Ninety percent of respondents reported that the consultation was worth their time and money. Forty-two percent stated that their anxiety related to their cancer risk had decreased following counseling and 56% indicated no change. Recall of exact numerical risk was poor and one-third could not remember hearing any risk estimate. More respondents would recommend the service to friends (90%) than to family members (75%). Overall, the service was positively received by the majority of patients. 相似文献
156.
Kathi Marymee Cynthia R. Dolan Roberta A. Pagon Robin L. Bennett Sandra Coe Nancy L. Fisher 《Journal of genetic counseling》1998,7(2):133-165
We present a method for the development of consensus documents describing the components of genetic evaluation and genetic counseling for various diagnoses. These documents were developed to encourage consistency among genetic professionals in Washington State. Other possible uses of these documents are to provide information regarding genetic evaluations for health care practitioners and payers, and to assist in quality assurance and genetic training programs. A working group of six genetic professionals developed two templates for the critical elements of genetic evaluation and genetic counseling, for clinical (nonprenatal) and prenatal patients. The working group then completed prototype templates for several specific genetic disorders. The templates and prototypes were sent to interested genetic professionals and perinatologists who submitted a total of 76 draft critical elements (CE's) to the working group. At two statewide meetings, participating practitioners modified and unanimously approved the CE templates, then unanimously approved the 21 draft CEs that had been finalized in small group discussions. Approved CE's were distributed to genetic professionals and perinatologists within the state. 相似文献
157.
Genetic discrimination is becoming an increasingly important problem in the United States. Information acquired from genetic
tests has been used by insurance companies to reject applications for insurance policies and to refuse payment for the treatment
of illnesses. Numerous states and the United States Congress have passed or are considering passage of laws that would forbid
such use of genetic information by health insurance companies. Here we argue that much of this legislation is severely flawed
because of the difficulty in distinguishing genetic from nongenetic tests. In addition, barring the use by insurance companies
of a genetic test but not a nongenetic test (conceivably for the same multifactorial disease) raises issues of fairness in
health insurance. These arguments suggest that ultimately the problems arising from genetic discrimination cannot be solved
by narrowly focused legislation but only by a modification of the entire health care system. 相似文献
158.
Ellen T. Matloff 《Journal of genetic counseling》1994,3(3):215-231
This study demonstrated that the content of prenatal genetic counseling sessions varied from counselor to counselor and from center to center. The study was designed to examine which specific issues were included by genetic counselors in prenatal genetic counseling sessions, and to determine which factors led genetic counselors to include or exclude this information from such sessions. Data were collected by randomly surveying 200 full, master degree members of the National Society of Genetic Counselors (NSGC). Respondents provided information by deciding which of 45 specific issues they would include in a standard prenatal genetic counseling session, and which one factor from a bank of 11 factors most accurately described the reason for this decision. The results indicated that the issues included/excluded from sessions varied widely among genetic counselors. The results also indicated that Patient Education/Informed Decision Making (34.5%) played the largest role in decision making overall, with Standard at Center/Departmental Policy (17.6%), Personal Experience/Preference (12.4%), and Applicability (10.9%) serving as the next three most important reasons for including or excluding issues from prenatal genetic counseling sessions. 相似文献
159.
Genetic counseling for Gaucher disease is complicated by the vast degree of clinical heterogeneity encountered in the disorder. Recent advances in our understanding of the molecular genetics of Gaucher disease are particularly relevant to genetic counseling. Although the identification of mutations in the glucocerebrosidase gene has enabled genotypic screening of Gaucher patients, the ability to reliably predict patient outcome on the basis of DNA studies is often limited. An appreciation of both the spectrum of clinical manifestations in Gaucher patients and the limitations of the available genotypic information is necessary when counseling patients, families and at-risk individuals. 相似文献
160.
Knut Borch-Johnsen Jørgen H. Olsen Thorkild I. A. Sørensen 《Theoretical medicine and bioethics》1994,15(4):377-386
Familial clustering of a disease is defined as the occurrence of the disease within some families in excess of what would be expected from the occurrence in the population. It has been demonstrated for several cancer types, ranging from rare cancers as the adenomatosis-coli-associated colon cancer or the Li-Fraumeni syndrome to more common cancers as breast cancer and colon cancer. Familial clustering, however, is merely an epidemiological pattern, and it does not tell whether genetic or environmental causes or both in combination are responsible for the familial clustering. Familial clustering may be due to genetic predisposition to the disease, but exposure to environmental factors — shared by members of some families, but not by members of other families — may also cause familial clustering and hence mimic genetic inheritance in the study of nuclear families. Based on assumptions regarding the individual steps in the biological process starting with exposure to carcinogens and ending with death from disseminated cancer we suggest that genetic and environmental factors may both be involved in most of these steps. The present paper focuses on research methodologies necessary to discriminate between the effect of genes and family environment in the development of cancer. 相似文献