共查询到20条相似文献,搜索用时 15 毫秒
1.
Amanda?M.?Willis Sian?K.?Smith Bettina?Meiser Mandy?L.?Ballinger David?M.?Thomas Martin?Tattersall the International Sarcoma Kindred Study the Kathleen Cuningham National Consortium for Research into Familial Breast Cancer Mary-Anne?Young 《Journal of genetic counseling》2018,27(5):1055-1066
Germline genomic testing is increasingly used in research to identify genetic causes of disease, including cancer. However, there is evidence that individuals who are notified of clinically actionable research findings have difficulty making informed decisions regarding uptake of genetic counseling for these findings. This study aimed to produce and pilot test a decision aid to assist participants in genomic research studies who are notified of clinically actionable research findings to make informed choices regarding uptake of genetic counseling. Development was guided by published literature, the International Patient Decision Aid Standards, and the expertise of a steering committee of clinicians, researchers, and consumers. Decision aid acceptability was assessed by self-report questionnaire. All 19 participants stated that the decision aid was easy to read, clearly presented, increased their understanding of the implications of taking up research findings, and would be helpful in decision-making. While low to moderate levels of distress/worry were reported after reading the booklet, a majority of participants also reported feeling reassured. All participants would recommend the booklet to others considering uptake of clinically actionable research findings. Results indicate the decision aid is acceptable to the target audience, with potential as a useful decision support tool for genomic research participants. 相似文献
2.
Suzanne Mellon Jacqueline Gauthier Michelle Cichon Adnan Hammad Michael S. Simon 《Journal of genetic counseling》2013,22(2):268-276
The increasing incidence of breast cancer in the Arab world, coupled with a relatively early age of onset, raises concern for the presence of hereditary risk factors in this population. However, due to potential structural and cultural barriers, Arab Americans make up the smallest percentage of individuals tested for Hereditary Breast and Ovarian Cancer Syndrome in the United States. The objectives of this qualitative pilot focus group of 13 Arab-American women were to explore attitudes, knowledge and beliefs regarding hereditary breast cancer in the Arab-American community in metropolitan Detroit, identify barriers that would prevent women from seeking hereditary cancer screening/testing and determine who women would talk to about inherited cancer. Results indicated that cultural beliefs and personal experiences with cancer influenced the women’s perspectives on hereditary cancer risk. A high level of secrecy about cancer within Arab-American families was present, which may prevent accurate risk assessment and referral for genetic services. Other identified barriers that may influence hereditary risk assessment included stigma, fears and misconceptions of cancer. While these barriers were present, participants also expressed a strong need for education and tailored cancer risk information for their community. 相似文献
3.
Mariño TC Armiñán RR Cedeño HJ Mesa JM Zaldivar YG Rodríguez RA Santos MV Mederos LE Herrera MP Pérez LV 《Journal of genetic counseling》2011,20(3):241-248
Predictive testing protocols are intended to help patients affected with hereditary conditions understand their condition
and make informed reproductive choices. However, predictive protocols may expose clinicians and patients to ethical dilemmas
that interfere with genetic counseling and the decision making process. This paper describes ethical dilemmas in a series
of five cases involving predictive testing for hereditary ataxias in Cuba. The examples herein present evidence of the deeply
controversial situations faced by both individuals at risk and professionals in charge of these predictive studies, suggesting
a need for expanded guidelines to address such complexities. 相似文献
4.
This study aimed to identify factors predictive of intentions to participate in genetic testing for hereditary cancer. Measures of the psychosocial influences on intention were based on the theories of reasoned action (TRA) and planned behaviour (TPB) and a new measure of Attitude toward Uncertainty. The participants (the breast cancer sample, n = 124; the colon cancer sample, n = 168) were recruited via a general practitioner's patient database and asked to complete postal questionnaires. The overall response rate was 57.4% (54.7% in the colon cancer sample, 61.4% in the breast cancer sample). In the colon cancer sample, 72% of respondents stated that they would choose to participate in genetic testing for colon cancer susceptibility. In the breast cancer sample, 77% of respondents stated that they would choose to participate in genetic testing for breast cancer susceptibility. The TRA components (attitudes and subjective norms) and Attitude toward Uncertainty emerged as the strongest predictors of intention. The Attitude toward Uncertainty appears to moderate intention in that participants with more negative attitudes toward uncertainty are more likely to undergo the test than those seeking more certainty. 相似文献
5.
John M. Quillin 《Journal of genetic counseling》2016,25(5):957-964
Hereditary cancer genetic counseling often focuses on medically intensive risk-reduction strategies, like imaging and risk-reducing surgeries. Lifestyle factors also influence cancer risk, but health behavior counseling is not common in genetic counseling. Information about typical lifestyle risk factors among patients seeking hereditary cancer risk is sparse. The current study describes cancer risk-relevant lifestyle factors for people who have had cancer genetic testing. Data came from the Health Information National Trends Survey (HINTS 4) collected in 2013. Analytic variables represented American Cancer Society nutrition and physical activity guidelines. Lifestyle factors were assessed for people who had undergone testing for BRCA1, BRCA2, or Lynch Syndrome genes. Among 3016 HINTS respondents, 135 had cancer genetic testing. Of these, 58 % were overweight or obese. Eighteen percent reported no moderate-intensity physical activity. Average sedentary screen-time was 3.4 h (SE = 0.472) daily. Sixty-three percent drank non-diet soda, and 23 % of these people drank soda every day. Between 18 and 36 % consumed less than 2 ½ cups fruits/vegetables daily. Twenty-four percent were current smokers. Lifestyle risk factors were not different between people who had genetic testing and those who had not. In conclusion, most people who had genetic testing for cancer susceptibility have at least one modifiable risk factor. Genetic counselors have opportunities to impact a counselee’s cancer risk not only through risk-tailored medical procedures, but also through lifestyle modification recommendations. Results of the current study may foster a broader discussion of genetic counselors’ roles in healthy lifestyle education. 相似文献
6.
Elizabeth M. Kaufman Beth N. Peshkin William F. Lawrence Rebecca Shelby Claudine Isaacs Karen Brown Jessica Rispoli Suzanne O'Neill Karen Hurley Tiffani DeMarco Barbara Brogan Sherry Grumet Lina Jandorf Kristine McKenna Heiddis Valdimarsdottir Marc D. Schwartz 《Journal of genetic counseling》2003,12(2):109-129
Shared decision making between patients and providers is becoming increasingly common, particularly when there is no clear preferred course of action. As a result, decision aids are being adopted with growing frequency and have been applied to many medical decision-making issues. One such issue where there is uncertainty is breast cancer risk management among BRCA1/BRCA2 carriers. We present the development of a CD-ROM decision aid to facilitate risk management decision making in this population. Our decision aid was developed with the intention of providing it through a randomized clinical trial. The CD-ROM is a multimedia, interactive intervention which provides information about breast cancer, risks associated with BRCA1 and BRCA2 mutations, risk management options for hereditary breast cancer, and a breast cancer risk management decision aid. The goal of this CD-ROM, offered as an adjunctive intervention, is to reduce decisional conflict and psychological distress and improve comprehension of risk information, decisional satisfaction, medical adherence, and quality of life for this population of women at increased risk for breast cancer. 相似文献
7.
Patricia Birch S. Adam N. Bansback R. R. Coe J. Hicklin A. Lehman K. C. Li J. M. Friedman 《Journal of genetic counseling》2016,25(6):1298-1308
We describe the rationale, development, and usability testing for an integrated e-learning tool and decision aid for parents facing decisions about genome-wide sequencing (GWS) for their children with a suspected genetic condition. The online tool, DECIDE, is designed to provide decision-support and to promote high quality decisions about undergoing GWS with or without return of optional incidental finding results. DECIDE works by integrating educational material with decision aids. Users may tailor their learning by controlling both the amount of information and its format – text and diagrams and/or short videos. The decision aid guides users to weigh the importance of various relevant factors in their own lives and circumstances. After considering the pros and cons of GWS and return of incidental findings, DECIDE summarizes the user’s responses and apparent preferred choices. In a usability study of 16 parents who had already chosen GWS after conventional genetic counselling, all participants found DECIDE to be helpful. Many would have been satisfied to use it alone to guide their GWS decisions, but most would prefer to have the option of consulting a health care professional as well to aid their decision. Further testing is necessary to establish the effectiveness of using DECIDE as an adjunct to or instead of conventional pre-test genetic counselling for clinical genome-wide sequencing. 相似文献
8.
Jennifer M. Matro Karen J. Ruth Yu-Ning Wong Katen C. McCully Christina M. Rybak Neal J. Meropol Michael J. Hall 《Journal of genetic counseling》2014,23(6):1002-1011
Increasing use of predictive genetic testing to gauge hereditary cancer risk has been paralleled by rising cost-sharing practices. Little is known about how demographic and psychosocial factors may influence individuals’ willingness-to-pay for genetic testing. The Gastrointestinal Tumor Risk Assessment Program Registry includes individuals presenting for genetic risk assessment based on personal/family cancer history. Participants complete a baseline survey assessing cancer history and psychosocial items. Willingness-to-pay items include intention for: genetic testing only if paid by insurance; testing with self-pay; and amount willing-to-pay ($25–$2,000). Multivariable models examined predictors of willingness-to-pay out-of-pocket (versus only if paid by insurance) and willingness-to-pay a smaller versus larger sum (≤$200 vs. ≥$500). All statistical tests are two-sided (α?=?0.05). Of 385 evaluable participants, a minority (42 %) had a personal cancer history, while 56 % had ≥1 first-degree relative with colorectal cancer. Overall, 21.3 % were willing to have testing only if paid by insurance, and 78.7 % were willing-to-pay. Predictors of willingness-to-pay were: 1) concern for positive result; 2) confidence to control cancer risk; 3) fewer perceived barriers to colorectal cancer screening; 4) benefit of testing to guide screening (all p?0.05). Subjects willing-to-pay a higher amount were male, more educated, had greater cancer worry, fewer relatives with colorectal cancer, and more positive attitudes toward genetic testing (all p?0.05). Individuals seeking risk assessment are willing-to-pay out-of-pocket for genetic testing, and anticipate benefits to reducing cancer risk. Identifying factors associated with willingness-to-pay for genetic services is increasingly important as testing is integrated into routine cancer care. 相似文献
9.
Susan T. Vadaparampil Jessica McIntyre Gwendolyn P. Quinn 《Journal of genetic counseling》2010,19(6):618-629
This study explored awareness of risk factors for hereditary breast and ovarian cancer (HBOC), awareness, knowledge and concerns
about genetic testing, and preference for how to have genetic testing recommended by a care provider among at-risk Hispanic
women. Differences in these factors among Mexican, Cuban, and Puerto Rican women were also examined. Women with a personal
or family history of breast or ovarian cancer from the Tampa Bay Area participated in a qualitative interview (N = 53). Data were analyzed using a combination of open and axial coding with a grounded theory approach. Study participants
in all groups reported: being aware that family history was a breast cancer risk factor, limited knowledge of genetic testing,
fear of test results, concerns about children’s risks, and no physician referral for genetic testing. Noteworthy sub-ethnic
differences included preferences for physician recommendation and information about genetic testing. This study provides important
preliminary information about areas related to HBOC that require additional education in the Hispanic community as a whole
and by sub-ethnicity. 相似文献
10.
The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 individuals with hereditary nonpolyposis colorectal cancer (HNPCC) in a semistructured telephone interview. Respondents informed their immediate family about the availability of genetic testing, however many more-distant relatives were not directly informed. Respondents were mostly satisfied with the way they told family members about testing and had mixed views about the usefulness of genetic counseling. Gender differences were observed, with most men expressing a need for guidance or support in communicating to relatives. Letters and booklets were thought to enhance the quality of information but the provision of further aids is unlikely to increase the number of relatives made aware of predictive testing by the proband. 相似文献
11.
There is a significant excess of colorectal cancer in the Australian Ashkenazi Jewish community. This excess can partially
be attributed to inherited factors that are over represented in this population, such as the APC variant I1307K, which is
associated with a modest increase in colorectal cancer risk. There is currently only sporadic clinical genetic testing offered
for this variant, as neither the exact increase in cancer risk and therefore the appropriate screening strategies for I1307K
carriers, nor the acceptability of such testing in Jewish communities have been determined. This study reports a high acceptability
of such genetic testing within a community sample of 300 Australian Jewish individuals—94% of participants would have a test
for predisposition to colorectal cancer and a majority would make this decision based on the desire for information for their
families and to decrease their own cancer risk. Some concerns were noted about genetic testing for cancer predisposition,
including insurance discrimination, test accuracy and confidentiality. 相似文献
12.
Riley BD Culver JO Skrzynia C Senter LA Peters JA Costalas JW Callif-Daley F Grumet SC Hunt KS Nagy RS McKinnon WC Petrucelli NM Bennett RL Trepanier AM 《Journal of genetic counseling》2012,21(2):151-161
Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of counseling at-risk individuals through genetic cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Familial Cancer Risk Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Essential components include the intake, cancer risk assessment, genetic testing for an inherited cancer syndrome, informed consent, disclosure of genetic test results, and psychosocial assessment. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a client. 相似文献
13.
Fallon R. Levine James E. Coxworth David A. Stevenson Thérèse Tuohy Randall W. Burt Anita Y. Kinney 《Journal of genetic counseling》2010,19(3):269-279
Familial adenomatous polyposis (FAP) is the second most common hereditary colorectal cancer syndrome and confers a nearly
100% lifetime risk of developing colorectal cancer. Understanding factors that facilitate and inhibit genetic testing and
cancer surveillance in children who are members of families affected by FAP will better equip clinicians to clarify misunderstandings
and facilitate appropriate care. The aims of this study were to examine parental attitudes and beliefs regarding endoscopic
surveillance and genetic testing in minors at risk for developing FAP. This cross-sectional study includes analyses of qualitative
and quantitative interview data collected from parents of children with or at risk for FAP. This report includes data from
28 parents with a total of 51 biological children between 10–17 years of age. The parents had a clinical and/or genetic diagnosis
of FAP. Most commonly reported facilitators included provider recommendation (surveillance) and personalized medical management
(genetic testing). Most commonly reported barriers included lack of provider recommendation (surveillance) and cost (genetic
testing). 相似文献
14.
Bonnie Jeanne Baty Vickie L. Venne Jamie McDonald Robert T. Croyle Corinne Halls Jean E. Nash Jeffrey R. Botkin 《Journal of genetic counseling》1997,6(2):223-244
This article discusses the genetic counseling protocols which were developed and counseling issues that have arisen in the first 2 years of evaluating a large kindred with a BRCA1 mutation. The rationale for the development of the genetic counseling protocols and specific genetic counseling visual aids are presented and discussed. The protocols and counseling aids can serve as models for other programs offering cancer susceptibility testing. The observations of study counselors about study subject concerns and responses to genetic testing at the time of the pretest and posttest counseling sessions are presented. 相似文献
15.
Andrea Farkas Patenaude 《Behavioral sciences & the law》1996,14(4):393-410
Genetic testing for cancer susceptibility raises many ethical, legal, and social concerns, particularly when testing children is considered. The complexity of defining medical and psychosocial risks and benefits of genetic predisposition testing for multifactorial disorders, like cancer, is discussed. Presumed incompetence of children and adolescents and questionable ability of many adults to understand complex genetic information raise informed consent questions. Guidelines can aid professionals but there must also be a means of evaluating individual cases. Further research is needed to determine optimal methods of educating children and adults about genetic issues and to discriminate factors which contribute to satisfaction with decision-making about genetic testing. Legal issues and practical considerations are examined involving a duty to warn family members about genetic susceptibility and to re-contact previously-tested individuals as knowledge advances. Recommendations are offered concerning roles for social scientists and legal scholars in ethical integration of genetic testing into our medical and social framework. 相似文献
16.
Palmero EI Ashton-Prolla P da Rocha JC Vargas FR Kalakun L Blom MB Azevedo SJ Caleffi M Giugliani R Schüler-Faccini L 《Journal of genetic counseling》2007,16(3):363-371
Hereditary breast cancer (HBC) accounts for 5–10% of breast cancer cases and it significantly increases the lifetime risk
of cancer. Our objective was to evaluate the sociodemographic variables, family history of cancer, breast cancer (BC) screening
practices and the risk profile of cancer affected or asymptomatic at-risk women that undergo genetic counseling for hereditary
breast cancer in public Brazilian cancer genetics services. Estimated lifetime risk of BC was calculated for asymptomatic
women using the Gail and Claus models. The majority of women showed a moderate lifetime risk of developing BC, with an average
risk of 19.7% and 19.9% by the Gail and Claus models, respectively. The average prior probability of carrying a BRCA1/2 gene mutation was 16.7% and overall only 32% fulfilled criteria for a hereditary breast cancer syndrome as assessed by family
history. We conclude that a significant number of individuals at high-risk for HBC syndromes may not have access to the benefits
of cancer genetic counseling in these centers. Contributing factors may include insufficient training of healthcare professionals,
disinformation of cancer patients; difficult access to genetic testing and/or resistance in seeking such services. The identification
and understanding of these barriers is essential to develop specific strategies to effectively achieve cancer risk reduction
in this and other countries were clinical cancer genetics is not yet fully established. 相似文献
17.
Weissman SM Bellcross C Bittner CC Freivogel ME Haidle JL Kaurah P Leininger A Palaniappan S Steenblock K Vu TM Daniels MS 《Journal of genetic counseling》2011,20(1):5-19
Lynch syndrome is the most common hereditary colorectal cancer syndrome and the most common cause of hereditary endometrial cancer. Identifying and evaluating families for Lynch syndrome is increasing in complexity due to the recognition that: family history-based clinical criteria lack sensitivity and specificity; genetic testing for Lynch syndrome continues to evolve as understanding of the molecular mechanisms underlying it evolves; and the Lynch syndrome phenotype encompasses multiple organ systems and demonstrates overlap with other hereditary cancer syndromes. This document is a summary of considerations when evaluating individuals and families for Lynch syndrome, including information on cancer risks, diagnostic criteria, tumor and genetic testing strategies, and the management of individuals with this condition. 相似文献
18.
Family Environments of Women Seeking BRCA1/BRCA2 Genetic Mutation Testing: An Exploratory Analysis 总被引:1,自引:0,他引:1
Keenan LA Lesniak KT Guarnaccia CA Althaus B Ethington G Blum JL 《Journal of genetic counseling》2004,13(2):157-176
Although there is some understanding of the shared characteristics and predictors of psychological distress of women participating in hereditary breast and ovarian cancer registries, these same characteristics are only beginning to be identified in research on community women seeking genetic testing for BRCA1/BRCA2 gene mutations. This study provides an initial exploration of characteristics associated with family environments for 51 community women waiting to receive such genetic testing results. Thirty-four of the 36 women classified on family environment type of the Family Environment Scale (FES) were from Personal Growth-Oriented families. Comparisons of women with and without personal cancer histories resulted in a trend for women with personal cancer histories to be classified as from Independence-Oriented families. Reported distress appears to vary for different family emphases based on family and personal cancer history. A moral-religious family emphasis consistently appeared to be associated with decreased psychological distress. Preliminary analyses comparing these community women (who were not part of a hereditary registry but were self- or physician-referred) seeking genetic testing with normal and distressed family means found that increased cohesion and expressiveness may be related to decreased conflict, indicative of potentially supportive family environments for these women. When compared with normative data, a subset consisting of the Ashkenazi Jewish women showed a trend of less cohesion than normal families, but similar cohesion levels as distressed families. 相似文献
19.
Hereditary non-polyposis colorectal cancer (HNPCC) is one of our most common cancer syndromes and an increasing number of
individuals live in families with verified hereditary cancer. We conducted an interview study to explore experiences from
and perceived impact on life after genetic testing for HNPCC. Three major themes emerged: reactions and emotions, family relations
and implications for life. Among the reactions described were suspecting heredity, feelings of guilt, the importance of experiential
knowledge, and coping strategies. The impact on family relations was related to perceived responsibility for conveying information,
encountering different reactions among family members, and difficulties in communication and relations. The implications described
included uncertainty, adaptation, new choices and changes in life, family planning issues, and experiences of surveillance
programs. We suggest that the themes and sub-themes identified should be taken into account during genetic counselling in
order to facilitate the spread of information and to prepare family members for the impact on life that knowledge about hereditary
cancer may have. 相似文献
20.
Kelly Reumkens A. J. G. van Oudheusden J. J. G. Gietel-Habets M. H. E. Tummers C. E. M. de Die-Smulders L. A. D. M. van Osch 《Journal of genetic counseling》2018,27(4):920-926
For couples at high risk of transmitting a cancer predisposition to offspring, reproductive decision-making can be challenging. As the choice between available reproductive options is preference-sensitive, the use of a decision aid can support these couples in their decisional process. The present study aims to investigate preferences and needs of involved stakeholders regarding the development and implementation of a patient decision aid. Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk for hereditary cancer and among eight clinical geneticists involved in oncogenetic counseling. Many similarities were found between the expressed preferences and needs of both stakeholder groups concerning the content, barriers and facilitating factors regarding the use of the decision aid, and its implementation. Emphasis was placed on the use of simple non-medical language, an extensive explanation of the procedures and techniques used in prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD), and the role of health care providers to refer couples to the decision aid. Both stakeholder groups were in favor of incorporating narrative stories in the decision aid. Integrating the present findings with knowledge on reproductive decisional motives and considerations is essential in guiding the development of a decision aid that corresponds to the preferences and needs of end-users. Trial registration: NTR5467 相似文献