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1.
Katarina M. Sussner Lina Jandorf Hayley S. Thompson Heiddis B. Valdimarsdottir 《Journal of genetic counseling》2010,19(3):255-268
Background: Latinas are less likely to use genetic services (counseling and testing) for hereditary breast and/or ovarian cancer risk
compared to other ethnic groups. Meanwhile, little is known about barriers to genetic counseling among Latinas at increased
risk of inherited breast cancer. Methods: A two-phase pilot study was conducted to examine interest, barriers and beliefs about BRCA genetic counseling among at-risk
Latinas in New York City and explore the potential for developing a culturally-tailored narrative educational tool for use
in future studies. Phase 1 included quantitative telephone interviews (N = 15) with bilingual participants with a personal diagnosis at a young age and/or family history of breast and/or ovarian
cancer. Quantitative results informed development of a narrative prototype educational presentation viewed by a subset of
participants (N = 10) in Phase 2 focus groups. Results: Despite barriers, including lack of awareness/knowledge, concerns related to learning cancer risks of family members, and
concerns about cost/health insurance, participants reported positive attitudes, beliefs and interest in learning about BRCA
genetic counseling. Further, significant increases in knowledge were demonstrated from pre-post presentation (p = 0.04). Conclusion: There is an unmet need to educate at-risk Latinas about BRCA genetic counseling. Culturally-tailored educational materials
including narratives may increase knowledge about BRCA genetic counseling among this underserved group. The effectiveness
of these approaches should be tested in future research with larger samples. 相似文献
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McCuaig JM Greenwood CM Shuman C Chitayat D Murphy KJ Rosen B Armel SR 《Journal of genetic counseling》2011,20(5):442-449
Five to 10% of all cases of breast and ovarian cancer are attributed to a heritable genetic predisposition. Transmission of
BRCA1 and BRCA2 mutations is equally likely through maternal or paternal lineage; however, fewer referrals to cancer genetics clinics appear
to be made for a paternal, than maternal, family history of breast and/or ovarian cancer. To examine this potential bias,
a retrospective review of 315 patient and family charts was conducted by one familial cancer clinic in Toronto, Canada. Referral
letters, risk estimates, and family histories were analyzed to identify significant differences between patients referred
with maternal and paternal family histories. It was determined that patients are approximately five times more likely to be
referred with a maternal family history of breast and/or ovarian cancer as compared to those with a paternal family history
(p = <.0001). Individuals with a paternal family history were found to have a different, and higher, pattern of risk estimates
(p = .00064). No significant difference was seen between the type of referrals sent by general practitioners, oncologists, and
gynecologists. Recommendations to increase the awareness of paternal family history in assessing cancer risk are provided. 相似文献
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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
6.
Vanessa B. Sheppard Kristi D. Graves Juleen Christopher Alejandra Hurtado-de-Mendoza Costellia Talley Karen Patricia Williams 《Journal of genetic counseling》2014,23(3):311-322
Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n?=?13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n?=?8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community. 相似文献
7.
Alyssa Kne Heather Zierhut Shari Baldinger Karen K. Swenson Pamela Mink Patricia McCarthy Veach Michaela L. Tsai 《Journal of genetic counseling》2017,26(4):697-715
Family history information comprises an important tool in identifying and referring patients at risk for hereditary breast and ovarian cancer (HBOC) to cancer genetic counseling. Despite recommendations and support provided by numerous professional organizations, cancer genetic counseling services are underutilized by atrisk patients. This study aimed to: (1) determine the rate of genetic counseling utilization following a referral letter, (2) characterize factors (barriers and supports) which influenced uptake of services, and (3) identify potential strategies for increasing utilization. This study evaluated the uptake of cancer genetic counseling among 603 screening mammography patients identified as having an increased risk for HBOC based on National Comprehensive Cancer Network (NCCN) guidelines. At risk individuals and their primary care providers were mailed a referral letter recommending genetic counseling. Three focus groups (N = 24) were conducted to identify responses to receiving a letter recommending genetic counseling, barriers to seeking genetic counseling, and facilitating factors to utilizing these services. Participant responses were qualitatively analyzed using thematic and cross case analysis. Within one year, 50/603 (8 %) of the identified at-risk women completed a genetic counseling appointment. Participant-perceived barriers which influenced their decision not to seek genetic counseling included lack of relevance and utility, limited knowledge about genetic counseling, concerns about the genetic counseling process, and concerns about cost and insurance coverage. Participant-perceived facilitating factors which would support a decision to seek genetic counseling included greater awareness and education about genetic counseling services when receiving a referral, and improved follow up and guidance from their provider. Findings from this study support the need for patient and primary care provider education, and improved provider-patient communication to increase uptake of genetic counseling services. 相似文献
8.
Julie Culver Wylie Burke Yutaka Yasui Sharon Durfy Nancy Press 《Journal of genetic counseling》2001,10(3):215-231
Genetic counseling has been suggested as a means of providing information and support to women with a family history of breast cancer. Yet women who undergo cancer genetic counseling in the United States generally consist of only a subset of those at risk, namely well-educated, upper-middle class, European American and Jewish women. We report outcomes from a study that provided a unique opportunity to determine whether women of African American, European American, Native American, or Ashkenazi Jewish ancestry have varying interest in having cancer genetic counseling. The study offered a genetic counseling session to 97 women with a family history of breast cancer who were participating in a larger interview study designed to assess attitudes toward genetic testing for breast cancer. The study offered genetic counseling free of charge to all study participants with a family history of breast cancer, removing the potential barriers of cost, the need for a physician referral, and lack of awareness of genetic counseling. Fifty women out of the 97 women offered genetic counseling (52%) accepted the offer by completing a session. Those who accepted genetic counseling had a higher educational level, a higher perceived risk of breast cancer, and were more likely to expect a positive BRCA1 or BRCA2 genetic test if they were to undergo genetic testing. When controlling for education level, there was no correlation between the participants' ethnic background and acceptance of a genetic counseling session. Outreach efforts to minority populations may increase awareness of the availability of genetic counseling and may facilitate participation by such populations. 相似文献
9.
Sussner KM Thompson HS Valdimarsdottir HB Redd WH Jandorf L 《Journal of genetic counseling》2009,18(1):60-71
Recent research underscores the need for increasing use of genetic testing for cancer risk in Latinos. This study examined
the influence of acculturation on attitudes, beliefs about and familiarity with genetic testing for cancer risk in a community-based
sample of Latinas in East Harlem, New York City (N = 103). Multivariate linear regression models analyzed the relationship of acculturation to: (1) familiarity (2) perceived
benefits (3) perceived barriers and (4) concerns about abuses of genetic testing for cancer risk. Controlling for sociodemographic
factors, results revealed that with increasing acculturation Latinas were more familiar with genetic testing (β = 1.62, SE = 0.72, p = 0.03), more likely to cite perceived benefits (β = 1.67, SE = 0.79, p = 0.04), and less likely to report perceived barriers related to genetic testing (β = −2.76, SE = 1.64, p = 0.10). Study results may help inform the development of culturally-appropriate health education outreach materials and
programs targeted to increase awareness, knowledge and understanding about genetic testing for cancer risk within Latinas. 相似文献
10.
Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy. 相似文献
11.
The study assessed perceptions of breast cancer genetic counseling. Focus groups were conducted with twenty women (ages < = 50 years)
in a Midwestern, urban health system identified as at above average risk of developing hereditary breast cancer and referred
for breast cancer genetic counseling following mammography. All participants associated the words “breast cancer” with fear.
African American women who received breast cancer genetic counseling may have channeled their fear into increased vigilance
related to breast health. African American women who did not receive breast cancer genetic counseling were most knowledgeable
about it. In contrast, Caucasian women who did not receive it reported uncertainty about the role of genetic counseling and
testing in assessing breast cancer risk, mistrust in medical professionals, and lack of trust in the accuracy of genetic tests.
The results could be used to help develop interventions to improve informed decision-making regarding breast cancer genetic
counseling. 相似文献
12.
Tamara J. Somers Julie C. Michael William M. P. Klein Andrew Baum 《Journal of genetic counseling》2009,18(4):339-349
Women with a limited family history of breast cancer may be interested in cancer genetics information although their objective
risk of breast cancer may not indicate routine referral to cancer genetics services. This study examined factors related to
interest and use of cancer genetics services in a community sample of women with a limited family history of breast cancer
(N = 187) who had no previous contact with cancer genetics services. Participants provided demographic information and ratings of perceived risk,
cancer distress, attitudes, and intentions to initiate cancer genetics services. Participants were given information about
a cancer genetics clinic that served women having concerns about their breast cancer risk. Women were contacted within 6 weeks
and 8 months following their study appointment. Six weeks following their study appointment, 25% of women had initiated cancer
genetics services. Eight months following their study appointment, 18% of women reported having completed a cancer genetics
service appointment. Baseline intentions independently predicted both initiation at 6 weeks and appointment at 8 months. Cancer
distress was positively associated with cancer genetics service initiation and appointment. Results suggest that some women
with a limited family history of breast cancer are interested in seeking out cancer genetics information. Women with a limited
family history of breast cancer may benefit from the availability of cancer genetics information provided through primary
healthcare settings. 相似文献
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14.
Galen Joseph Mary S. Beattie Robin Lee Dejana Braithwaite Carolina Wilcox Maya Metrikin Kate Lamvik Judith Luce 《Journal of genetic counseling》2010,19(5):447-462
The Cancer Risk Education Intervention Tool (CREdIT) is a computer-based (non-interactive) slide presentation designed to educate low-literacy, and ethnically and racially diverse
public hospital patients at risk of Hereditary Breast and Ovarian Cancer (HBOC) about genetics. To qualitatively evaluate
participants’ experience with and perceptions of a genetic education program as an adjunct to genetic counseling, we conducted
direct observations of the intervention, semi-structured in person interviews with 11 women who viewed CREdIT, and post-counseling
questionnaires with the two participating genetic counselors. Five themes emerged from the analysis of interviews: (1) genetic
counseling and testing for breast/ovarian cancer was a new concept; (2) CREdIT’s story format was particularly appealing;
(3) changes in participants’ perceived risk for breast cancer varied; (4) some misunderstandings about individual risk and
heredity persisted after CREdIT and counseling; (5) the context for viewing CREdIT shaped responses to the presentation. Observations
demonstrated ways to make the information provided in CREdIT and by genetic counselors more consistent. In a post-session
counselor questionnaire, counselors’ rating of the patient’s preparedness before the session was significantly higher for
patients who viewed CREdIT prior to their appointments than for other patients. This novel educational tool fills a gap in
HBOC education by tailoring information to women of lower literacy and diverse ethnic/racial backgrounds. The tool was well
received by interview participants and counselors alike. Further study is needed to examine the varied effects of CREdIT on
risk perception. In addition, the implementation of CREdIT in diverse clinical settings and the cultural adaptation of CREdIT
to specific populations reflect important areas for future work. 相似文献
15.
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
16.
This qualitative study identified four life trajectories that influenced the decision in young women to have genetic testing
for mutations in BRCA1/2 and subsequent risk reduction decisions after receiving a positive mutation result. Fifty nine women between the ages of
18–39 years were interviewed in this grounded theory study, 44 of those tested were found to have a mutation in either BRCA1 or BRCA2. Of those with a mutation, 23 had no history of cancer and 21 had a breast cancer diagnosis. Analysis of the 44 participants
tested found that risk reducing decisions were related to the life trajectories that preceded genetic testing. These life
trajectories included: 1) Long-standing awareness of breast cancer in the family, 2) Loss of one’s mother to breast cancer
at a young age, 3) Expression of concern by a health care provider, and 4) Personal diagnosis of breast cancer. Understanding
possible influences behind decision making for genetic testing and risk reduction in young women may assist health care providers
in offering age appropriate guidance and support. 相似文献
17.
Shelly Clark Leslie G. Bluman Nancy Borstelmann Katherine Regan Eric P. Winer Barbara K. Rimer Celette Sugg Skinner 《Journal of genetic counseling》2000,9(3):219-235
Women with a strong family history of breast and/or ovarian cancer can now have genetic testing, that may identify mutations associated with increased cancer predisposition. Within the context of a clinical trial evaluating printed educational materials, we examined motivation, satisfaction, coping, and perceptions of genetic counseling and testing among 159 women who underwent pretest counseling and made a testing decision. Ninety-six percent of the participants elected to have BRCA1/2 testing. When making a decision about genetic testing, study participants were concerned less about the potential negative effects that could result from testing than the potential benefits. After counseling, participants said that they felt better able to make decisions that were right for them and that their questions and concerns were adequately addressed during the session. Ninety-five percent of the women were satisfied with their test decision. Participants used a range of strategies to cope with thoughts and feelings about cancer and/or genetic testing immediately following test decision. Results suggest that the genetic counseling session helped women make decisions about testing for BRCA1 and BRCA2, even in the setting of a trial in which all women also received detailed educational materials. Further, the results indicate that future research focusing on perceptions of risks and benefits of testing and of coping strategies immediately following test decision may be warranted. 相似文献
18.
Women at greatest risk for hereditary breast and ovarian cancer may consider prophylactic removal of breasts or ovaries as
a risk-reduction measure. This report describes uptake of risk-reduction mastectomy (RRM), risk-reduction oophorectomy (RRO),
and related factors in 62 high-risk women who received genetic counseling. Seven (11%) participants underwent RRM and 13 (21%)
underwent RRO. Of these women, 37% did not have BRCA testing, suggesting other factors influence decisions to undergo surgery.
Women who had indicated (pre-genetic counseling) their intent not to have surgery chose not to have surgery. Information received
during genetic counseling that women perceived as being most important for influencing risk-reduction surgery decisions was BRCA test result (positive or negative), followed by discussion
of family cancer history. Reasons for indecision about risk-reduction surgery included genetic testing results, concerns about
surgery, timing in life, and early menopause. The findings enhance our understanding of information that is helpful to women
considering this surgery. 相似文献
19.
Deborah J. MacDonald Linda Sarna Jeffrey N. Weitzel Betty Ferrell 《Journal of genetic counseling》2010,19(2):148-160
Women with a personal or family history of breast or ovarian cancer are increasingly presenting for genetic cancer risk assessment (GCRA). To explore the personal and family impact of GCRA, four focus groups were conducted of women seen for risk assessment. Participants were 22 primarily non-Latina White women with a personal or family history of breast or ovarian cancer. Analysis of the data identified new themes related to balancing time to assimilate risk information with the need to make timely healthcare decisions, physicians’ lack of sufficient genetic knowledge, and concern for daughters regardless of the daughters’ age. Other themes related to protecting others, knowledge as empowerment, reassessing personal attribution of cancer risk, managing uncertainty, reappraising body image, and experiencing divergent family responses to communication of cancer risk and healthcare decisions. Understanding the personal and family impact of GCRA may enable genetics professionals to tailor their counseling efforts to better meet the needs of these women. Additional research is needed to extend these findings and identify interventions to support positive outcomes of GCRA. 相似文献
20.
Armel SR Hitchman K Millar K Zahavich L Demsky R Murphy J Rosen B 《Journal of genetic counseling》2011,20(4):355-364
The use of mailed family history questionnaires (FHQs) has previously been established to be an effective method for obtaining
family history information for the triage of patients for genetic counseling and genetic testing of hereditary breast and
ovarian cancer syndrome; yet only 53% of patients complete their FHQ within 6 months from the date of mailing (Armel et al.
Journal of Genetic Counseling, 18(4):366–378, 2009). Although literature exists evaluating why women may not attend genetic counseling, no data are currently available examining
genetic risk or genetic testing eligibility in the population of patients not returning their FHQ (non-responders). Concern
exists that if non-responders are not followed-up for the purpose of triage for genetic counseling, individuals at high-risk
for a hereditary cancer syndrome may be missed. This article explores the demographics of the non-responder population to
assess genetic risk estimates for mutations in the BRCA1 and BRCA2 genes and genetic testing eligibility as compared to a responder population of patients who completed a mailed FHQ. A total
of 430 pedigrees were obtained, 215 from non-responders and 215 from responders. Results of this study indicate that 69% of
non-responders were either unreachable by telephone (42%), declined an appointment (19%), or were previously seen in another
center for a genetic counseling visit (8%). Additionally, results indicate that non-responders are less likely to be eligible
for genetic testing (40%) as compared to responders (57%) (p = 0.0004). Together these data shed light on a population of patients for which limited information exists and suggest that
we question how and to what extent clinics should pursue non-responders, particularly in light of global reductions in health
care funding. 相似文献