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1.
Robert Pilarski 《Journal of genetic counseling》2009,18(4):303-312
This paper is a summation of selected history and literature on risk perception as it pertains to genetic counseling and testing,
with a focus on hereditary breast and ovarian cancer, the area which has seen the greatest focus of research. Risk perception
is a complex and incompletely understood concept which seeks to capture the myriad meanings that an individual attaches to
the experience of being at increased risk. It is now evident that “risk”, as perceived by the patient, is different from the
objective, quantifiable risk estimate often provided to them during genetic counseling. What is also clear is that the complicated
set of factors influencing risk perception are not yet well understood, nor are the mechanisms the lead from perceived risk
to behavioral change in the patient. In situations where specific behavioral changes such as increased cancer screening are
an inherent goal of the genetic risk assessment and counseling process, gaining a better understanding of the specific factors
motivating change will be essential. 相似文献
2.
Peters JA Kenen R Hoskins LM Koehly LM Graubard B Loud JT Greene MH 《Journal of genetic counseling》2011,20(5):450-464
Family communication is essential for accurate cancer risk assessment and counseling; family blockers play a role in this
communication process. This qualitative analysis of social exchanges is an extension of earlier work characterizing those
who are perceived by study participants as health information gatherers, disseminators, and blockers within families with
Hereditary Breast and Ovarian Cancer (HBOC) susceptibility. Eighty-nine women, ages 23–56 years, enrolled in a Breast Imaging
Study (BIS) and participated in a sub-study utilizing a social assessment tool known as the Colored Ecological Genetic Relational
Map (CEGRM). Purposive sampling ensured that participants varied according to numbers of participating family members e.g., ranging from 1 to 6. Eighty-nine women from 42 families (1–8 relatives/family) participated. They collectively designated
65 blockers, both male and female. Situational factors, beliefs, attitudes and cultural traditions, privacy and protectiveness
comprised perceived reasons for blocking intra-family health communications. Longitudinal data collected over 4 years showed
families where blocking behavior was universally recognized and stable over time, as well as other families where blocking
was less consistent. Self-blocking was observed among a significant minority of participating women. Blocking of health communications
among family members with HBOC was variable, complex, and multifaceted. The reasons for blocking were heterogeneous; duration
of the blocking appeared to depend on the reasons for blocking. Blocking often seemed to involve bi-directional feedback loops,
in keeping with Lepore’s Social Constraints and Modulation Theory. Privacy and protectiveness predominated as explanations
for long-term blocking. 相似文献
3.
4.
Debra Morgan Heather Sylvester F. Lee Lucas Susan Miesfeldt 《Journal of genetic counseling》2010,19(1):44-54
Data are limited regarding barriers to care among women, with or at risk for hereditary breast and ovarian cancer (HBOC),
following genetic counseling in the community setting. Using a telephone survey, we retrospectively addressed perceptions
of post-genetic counseling medical care and barriers to care among 69 at-risk women from the non-academic setting. Of these,
all agreed that following cancer screening recommendations was better than not following them; none felt recommendations were
too difficult to follow; all believed screening would help keep them healthy; 57% believed screening would prevent cancer.
Twenty-five percent noted discomfort with breast imaging; 29% found ovarian cancer screening uncomfortable. Close to a quarter
of participants reported difficulty deciding whether or not to undergo risk-reducing mastectomy while 10% noted difficulty
deciding for or against bilateral salpingo-oophorectomy. There were no perceived major barriers to care, although 38% felt
that screening reminders would be helpful, and 10% needed more help in following through with care. Overall, participants
believed that they were benefiting from their post-genetic counseling medical care. This work identified HBOC-related support
needs to include: informational resources that promote improved understanding of cancer risk and high-risk management; screening
reminder systems; and decision support tools. 相似文献
5.
Lim J Macluran M Price M Bennett B Butow P;kConFab Psychosocial Group 《Journal of genetic counseling》2004,13(2):115-133
Forty-seven unaffected women from high-risk breast cancer families who had received results for hereditary breast/ovarian predisposition genes between 1 month and 5 years ago were interviewed regarding their experiences. Women responded to open-ended questions. The initial emotional turmoil reported by most was generally short lived. However, the impact of genetic testing went beyond the individual to the extended family and social context, particularly in the short-term. A common theme was the difficulty associated with divulging a result to family members, who were also adjusting to their own result. The majority of carriers reported advantages that were both physical (options for surveillance programs and prophylactic surgery) and emotional (reduced uncertainty, increased awareness of options and knowledge about risk, preparation time). Most carriers reported no change in lifestyle although some reported discovering their mutation status as a positive life-changing experience. Implications for genetic counseling and further research are discussed. 相似文献
6.
G Cicero R De Luca P Dorangricchia G Lo Coco C Guarnaccia D Fanale V Calò A Russo 《Journal of genetic counseling》2017,26(5):999-1007
Oncological Genetic Counselling (CGO) allows the identification of a genetic component that increases the risk of developing a cancer. Individuals’ psychological reactions are influenced by both the content of the received information and the subjective perception of their own risk of becoming ill or being a carrier of a genetic mutation. This study included 120 participants who underwent genetic counselling for breast and/or ovarian cancer. The aim of the study was to examine the relation between their cancer risk perception and the genetic risk during CGO before receiving genetic test results, considering the influence of some psychological variables, in particular distress, anxiety and depression. Participants completed the following tools during a psychological interview: a socio-demographic form, Cancer Risk Perception (CRP) and Genetic Risk Perception (GRP), Hospital Anxiety and Depression Scale (HADS) and Distress Thermometer (DT). The data seem to confirm our hypothesis. Positive and significant correlations were found between the observed variables. Moreover, genetic risk perception determined an increase in depressive symptomatology and cancer risk perception led to an increase in anxious symptomatology, specifically in participants during cancer treatment. The present results suggest the importance of assessing genetic and cancer risk perception in individuals who undergo CGO, to identify those who are at risk of a decrease in psychological well-being and of developing greater psychological distress. 相似文献
7.
Yolanda Ridge Karen Panabaker Mary McCullum Cheryl Portigal-Todd Jenna Scott Barbara McGillivray 《Journal of genetic counseling》2009,18(1):87-100
As demand for genetic counseling regarding hereditary cancer continues to grow, more efficient methods of providing this service
must be explored. In this pilot study, group genetic counseling was offered to two different cohorts of women seeking genetic
counseling for Hereditary Breast and Ovarian Cancer. Seven group sessions, designed to cover all aspects of an individual
genetic counseling appointment, were conducted. Although patients were receptive to group genetic counseling, a significant
proportion chose individual counseling when given the option. Advantages of group genetic counseling include shared experience
and increased efficiency. Disadvantages include increased frustration at not being eligible for genetic testing, group influence
on decision-making, privacy concerns, increased need for follow-up, and difficulty booking group appointments. Overall, the
level of patient satisfaction with group genetic counseling was similar to that of individual counseling. The results of this
pilot study suggest that further research is needed to determine whether group genetic counseling is an acceptable alternative
to individual counseling. 相似文献
8.
Berliner JL Fay AM;Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group 《Journal of genetic counseling》2007,16(3):241-260
These cancer genetic counseling recommendations describe the medical, psychosocial and ethical implications of identifying
at-risk individuals for hereditary breast and ovarian cancer (HBOC) through cancer risk assessment, with or without genetic
susceptibility 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 as well as the professional expertise of
genetic counselors with significant experience in education and counseling regarding hereditary breast and ovarian cancer.
Critical components of the process include the ascertainment of medical and family histories, determination and communication
of cancer risk, assessment of risk perception, education regarding the genetics of HBOC, discussion of molecular testing for
HBOC if appropriate (including benefits, risks and limitations) and any necessary follow-up. These recommendations do not
dictate an exclusive course of management or guarantee a specific outcome. Moreover, they do not replace the professional
judgment of a health care provider based on the clinical situation of a client. 相似文献
9.
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
10.
Heidi S. Lumish Hallie Steinfeld Carrie Koval Donna Russo Elana Levinson Julia Wynn James Duong Wendy K. Chung 《Journal of genetic counseling》2017,26(5):1116-1129
Recent advances in next generation sequencing have enabled panel gene testing, or simultaneous testing for mutations in multiple genes for a clinical condition. With more extensive and widespread genetic testing, there will be increased detection of genes with moderate penetrance without established clinical guidelines and of variants of uncertain significance (VUS), or genetic variants unknown to either be disease-causing or benign. This study surveyed 232 patients who underwent genetic counseling for hereditary breast and ovarian cancer to examine the impact of panel gene testing on psychological outcomes, patient understanding, and utilization of genetic information. The survey used standardized instruments including the Impact of Event Scale (IES), Multidimensional Impact of Cancer Risk Assessment (MICRA), Satisfaction with Decision Instrument (SWD), Ambiguity Tolerance Scale (AT-20), genetics knowledge, and utilization of genetic test results. Study results suggested that unaffected individuals with a family history of breast or ovarian cancer who received positive results were most significantly impacted by intrusive thoughts, avoidance, and distress. However, scores were also modestly elevated among unaffected patients with a family history of breast and ovarian cancer who received VUS, highlighting the impact of ambiguous results that are frequent among patients undergoing genetic testing with large panels of genes. Potential risk factors for increased genetic testing-specific distress in this study included younger age, black or African American race, Hispanic origin, lower education level, and lower genetic knowledge and highlight the need for developing strategies to provide effective counseling and education to these communities, particularly when genetic testing utilizes gene panels that more commonly return VUS. More detailed pre-test education and counseling may help patients appreciate the probability of various types of test results and how results would be used clinically, and allow them to make more informed decisions about the type of genetic testing to select. 相似文献
11.
Nichole A. Morman Lindsey Byrne Christy Collins Kelly Reynolds Jeffrey G. Bell 《Journal of genetic counseling》2017,26(4):776-784
The purpose of this study was to evaluate the utility of a breast cancer risk assessment (BCRA) at the time of screening mammogram. Women whose BCRA indicated a high risk for cancer received a letter with instructions for breast health care and genetic counseling if appropriate. After 6 months this group received surveys to evaluate their risk perception and their recall of, and compliance with, recommendations. We also explored the impact of other variables such as a recommendation for genetic counseling and physician communication with the women. After the BCRA, the majority of high risk women reported no change in their perceived risk of cancer. A woman’s perceived risk of cancer after a BCRA was significantly associated with her recall of recommendations for breast health care, but not with compliance. A recommendation for genetic counseling was not significantly related to women’s perceived risk of cancer after the BCRA. Ten percent of women who should have obtained genetic counseling actually completed an appointment. Women who discussed their BCRA results with their physicians were more compliant with a six month breast exam with a doctor (53% vs 17%, p = 0.018). Overall, women felt that the BCRA was helpful and did not cause undue stress or anxiety. Although the cohort’s compliance with recommendations was suboptimal, physicians’ interactions with their patients may have a positive influence on their compliance. 相似文献
12.
d'Agincourt-Canning L 《Journal of genetic counseling》2005,14(1):55-69
The purpose of this study was to explore the connection between experiential knowledge of hereditary breast/ovarian cancer and understandings of personal cancer risk. Using a qualitative research design, the investigator conducted in-depth interviews with 53 individuals (45 female, 8 male) from families at high-risk for hereditary breast/ovarian cancer. Study results showed that two forms of experiential knowledge, empathetic and embodied knowledge, were integral to participants constructions of their cancer risk. They also illustrated that knowledge derived from experience often took precedence over objective clinical estimates of risk. The paper discusses the clinical implications of these findings and suggests that counseling strategies, which expand upon patients lived experience and knowledge of the disease, may enhance communication of genetic risk. Assessment of experiential knowledge promises to suggest new ways to frame genetic information that will enable people to better understand their objective risk or to modify exaggerated and/or inaccurate risk perceptions. 相似文献
13.
The goals of this research were to describe the process of identifying and recruiting individuals registered with a cancer center's cancer registry who were eligible to participate in cancer genetic research. This study specifically focused on younger women with personal and family cancer histories strongly suggestive of hereditary breast cancer syndromes, as determined by genetic counselor review. Of special interest was to determine the proportion of women from minority backgrounds who were (a) identifiable in this manner and (b) interested in genetic testing for hereditary breast cancer through a family cancer clinical research program. An initial query of the 292 cases of women newly affected with breast cancer and contained within the registry indicated that 124 met demographic eligibility criteria. The personal and family cancer histories of each of these women were then reviewed by a genetic counselor and the remaining, eligible patients (n = 31) were subsequently contacted by mail and telephone: approximately three-fifths (18/31) of these patients were White and two-fifths (13/31) were Black or of another racial background. Of the women who were sent one or more study-related mailings, 10% (3/31) were unreachable by telephone due to incorrect contact information, 32% (10/31) were reachable by telephone but unresponsive to messages left, 26% (8/31) had already participated in the family cancer program (i.e., were positive controls), 6% (2/31) were interested in participating in the program, 23% (7/31) were uninterested in participating in the program, and 3% (1/31) were later determined to be ineligible. Comparing the racial backgrounds of women who were either positive controls or interested in participating (i.e., “tester” category) to women who were either unreachable, nonresponsive, uninterested, or ineligible (i.e., “nontester” category), there was a nonsignificant trend for more non-White women to fall into the nontester than tester category, Fisher's Exact Test = .09. This work underscores practical steps in planning and carrying-out cancer genetic testing research among women newly affected with breast cancer and members of special populations. It also underscores the role that genetic counseling professionals play in this process. 相似文献
14.
Michelle Proulx Marie-Dominique Beaulieu Christine Loignon Marie-Hélène Mayrand Christine Maugard Nathalie Bellavance Diane Provencher 《Journal of genetic counseling》2009,18(2):160-172
Although the discovery of mutations on BRCA1 and BRCA2 genes associated with high breast cancer risk has given rise to screening
and surveillance initiatives, there is little documentation on why high-risk women choose to enter screening programs. The
objective of this qualitative study was to develop a detailed understanding of the experiences and decisions that motivate
women with increased risk of hereditary breast cancer to participate in the multicentered Quebec experimental breast screening
program. Our study involved 21 participants who were either BRCA carriers or at risk and untested. These women were interviewed
while participating in the screening program. Our study demonstrates that intensive screening programs may provide valuable
reassurance for women with increased familial risk of hereditary breast cancer, who count on early detection and rapid response
from professionals if and when a problem arises. Health professionals must take these and others concerns into account to
ensure their interventions are most consistent with women’s needs. 相似文献
15.
Josephine Green Martin Richards Frances Murton Helen Statham Nina Hallowell 《Journal of genetic counseling》1997,6(1):45-60
In familial breast/ovarian cancer, the information that the proband is able to supply about other family members is of critical importance for genetic counseling. This frequently requires family communication. Forty-six women attending a cancer genetics clinic were interviewed as part of a longitudinal study. Nearly all reported affected maternal, rather than paternal relatives, which may indicate lack of awareness by women with paternal histories. There was also much more communication among female relatives. Mothers, where they were still alive, were key figures in supplying family information. Although the majority of the sample contacted at least one relative regarding counseling, most named a relative with whom they did not feel able to communicate on this subject. Probands balanced the perceived obligation of passing on information with that of not causing alarm. Communication, both obtaining and giving information, was impeded by adoption, divorce and remarriage, family rifts, and large age gaps between siblings. 相似文献
16.
Peters JA Hoskins L Prindiville S Kenen R Greene MH 《Journal of genetic counseling》2006,15(6):477-489
The CEGRM was initially conceived as a simple, concise, visual representation of the social interaction domains of information, tangible services and emotional exchanges (Kenen, R., & Peters, J. (2001). J Genet Counsel, 10, 289–309). A blend of the genetic pedigree, genogram, and ecomap, the CEGRM was developed to facilitate contemporary genetic counseling goals. An exploratory pilot study of 20 subjects showed that it was feasible, comfortable and efficiently accomplished, and that the process was useful both for assessment and as an intervention with study participants (Peters, J. A., Kenen, R., Giusti, R., Loud, J., Weissman, N., & Greene, M. H. (2004). Am J Med Genet Part A, 130A, 258–264). Subsequently, we have extended the CEGRM to 150 women from hereditary breast/ovarian cancer (HBOC) families; three different investigators have successfully administered this tool. The preliminary findings from the exploratory study were confirmed in the larger sample. Engaging in the interactive, insight-promoting CEGRM process provides a novel tool for assessing the social context of genetic testing, and helping high-risk women better understand and integrate genetic information into their personal and family identities, health beliefs, and decisions. 相似文献
17.
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
18.
Claes E Evers-Kiebooms G Denayer L Decruyenaere M Boogaerts A Philippe K Legius E 《Journal of genetic counseling》2005,14(5):349-363
This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34
noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer
than noncarriers. Carriers who did not have prophylactic oophorectomy had the highest risk perception of ovarian cancer. No
differences were found between carriers and noncarriers regarding perceived seriousness and perceived control of breast and
ovarian cancer. Mean levels of distress were within normal ranges. Only few women showed an overall pattern of clinically
elevated distress. Cancer-specific distress and state-anxiety significantly decreased in noncarriers from pre- to posttest
while general distress remained about the same. There were no significant changes in distress in the group of carriers except
for ovarian cancer distress which significantly decreased from pre- to posttest. Our study did not reveal adverse effects
of predictive testing when offered in the context of a multidisciplinary approach. 相似文献
19.
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
20.
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