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1.
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
2.
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
3.
Gammon AD Rothwell E Simmons R Lowery JT Ballinger L Hill DA Boucher KM Kinney AY 《Journal of genetic counseling》2011,20(6):625-638
This study was an investigation of awareness, cognitions, and psychosocial and educational needs related to genetic counseling
and testing among Latinas and non-Latina whites at increased risk for having a BRCA1/2 mutation. Sixty-three Latina and eighty-four non-Latina white women completed telephone surveys employing a mixture of quantitative
and qualitative questions assessing awareness, benefits, risks, barriers, and genetic counseling communication preferences
regarding BRCA1/2 testing. Among participants who had not previously had genetic counseling/testing, 56.9% of Latinas (29/51) and 34.8% of
non-Latina white participants (24/69) were unaware of the availability of BRCA1/2 testing. In multivariate logistic regression analysis, Latina ethnicity was the only statistically significant independent
factor associated with lack of awareness (OR = 0.42; 95% CI = 0.19–0.35). No appreciable differences were noted between ethnic
groups regarding perceived benefits of BRCA1/2 testing or desired genetic counseling topics. These findings underscore the importance of increasing awareness of cancer
genetic counseling and genetic testing among both Latina and non-Latina white populations. 相似文献
4.
5.
In North America, genetic counseling is an allied health profession where entry level practitioners currently must hold a
master’s degree earned from a graduate program accredited by the American Board of Genetic Counseling. This is one of many
health care professions that could transition to an entry level clinical doctorate degree. This study explored the attitudes
of genetic counseling training program directors toward such a transition. Thirty-one North American program directors were
invited to complete an online survey and a follow-up telephone interview. Twenty-one program directors completed the survey
and ten directors also completed a follow up phone interview. There was disagreement among the respondents on the issue of
transitioning to a clinical doctorate degree (nine in favor, six against and six undecided). Respondents disagreed about whether
the transition would lead to higher salaries (six yes, eight no, and seven unsure) or increased professional recognition (eight
yes, eight no, and four unsure). Approximately half (n = 10) of directors were not sure if the transition to a clinical doctorate would help or hurt minority recruitment; six thought
it would help and four thought it would hurt. However, the majority (n = 13) thought a clinical doctorate would help genetic counselors to obtain faculty positions. If the field transitions to
a clinical doctorate, 11 of the directors thought their program would convert, seven were unsure and one thought their program
would shut down. Themes identified in interview data included 1) implications for the profession 2) institution-specific considerations
and 3) perception of the unknown. Opinions are quite varied at this time regarding the possible transition to the clinical
doctorate among genetic counseling training program directors. 相似文献
6.
Bedard AC Huether CA Shooner K Buncher CR Warren NS 《Journal of genetic counseling》2007,16(5):645-653
Research is important to validate clinical services, provide information on the effectiveness of practice techniques, and
develop the knowledge base of a clinical profession. Genetic counseling students from American Board of Genetic Counseling
(ABGC) accredited training programs were surveyed to determine their career research interests and interest in pursuing a
hypothetical doctoral degree in genetic counseling. Genetic counseling program directors were surveyed to assess the emphasis
on research training within their programs. A substantial number (46%, n = 92) of genetic counseling students are interested in performing research in their careers and many (40%, n = 80) would pursue a doctoral degree in genetic counseling if it was available. Students and directors from programs with
a thesis requirement reported a significantly higher emphasis on career research preparation than those from programs without
a thesis requirement. The results of this study indicate that future genetic counselors are interested in contributing to
the research base that will advance the field. This study suggests a need to strengthen research training within ABGC accredited
graduate programs and explore the development of a doctoral degree option in genetic counseling. 相似文献
7.
Karen Potter Powell Lianne Hasegawa Kirsty McWalter 《Journal of genetic counseling》2010,19(6):593-605
According to the 2008 National Society of Genetic Counselors (NSGC) Professional Status Survey (PSS), 31 genetic counselor
respondents reported spending at least 50% of their time in the area of public health. The NSGC Public Health Special Interest
Group (PHSIG) had 49 dues-paying members in 2009. The purpose of this study was to identify the work settings and public health
activities in which genetic counselors participate. A novel online survey was disseminated over the NSGC PHSIG Listserv. Forty-one
percent (n = 13) of public health genetic counselor respondents worked in a university medical system, while 53% (n = 17) were grant-funded and held a non-clinical appointment. The most common public health activities included educating
healthcare professionals (82%) and community members (61%), research (55%), grant writing (55%) and grant administration (36%).
Most respondents (82%) reported learning certain public health skills outside of their genetic counseling training programs.
Differences in work settings were found, with a significantly greater percentage of public health genetic counselors working
in government agencies. Genetic counselors have opportunities to become involved in public health activities as the scope
of public health genetics grows. Furthermore, genetic counseling competencies are compatible with the Institute of Medicine’s
“10 Essential Public Health Services.” The NSGC and genetic counseling training programs are encouraged to offer more public
health learning opportunities for genetic counselors and genetic counseling students interested in this specialty area. 相似文献
8.
Background. As familial cancer genetic services moves into community practice increased numbers of trained health professionals are
needed to counsel individuals seeking cancer risk information. Nurses have been targeted to provide cancer risk assessment
and counseling. To help prepare nurses for this role, a 5-day training in familial cancer risk assessment and counseling followed
by a long-distance mentorship to support continued skill development in the work environment was conducted by Fox Chase Cancer
Center, Philadelphia, PA. Methods. Four cohorts (N = 41) have completed the training and were randomized to either an immediate or delayed mentorship. A formative evaluation
assessed the nurse’s ability to consult with other genetic health professionals and build self-efficacy in counseling skills
via responses to questionnaire. A post-mentorship interview evaluated the usefulness, timing and length of the mentorship.
Results. For both groups, there was a statistically significant improvement in self-efficacy for all skills from baseline to 6 months
and an increased number of nurses consulting with genetic health professionals. All the nurses reported the value of the mentorship
and those with less cancer risk counseling experience prior to the training needed support and resources for further skill
and program development. Lessons learned from this formative evaluation are provided. 相似文献
9.
Karen P. Powell Whitney A. Cogswell Carol A. Christianson Gaurav Dave Amit Verma Sonja Eubanks Vincent C. Henrich 《Journal of genetic counseling》2012,21(1):113-126
The purpose of this study was to assess primary care physicians’ awareness, experience, opinions and preparedness to answer
patients’ questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and
internal medicine providers in North Carolina. Of the 382 respondents, 38.7% (n = 148) were aware of and 15% (n = 59) felt prepared to answer questions about DTC genetic tests. Respondents aged 50 or older were more likely to be aware
of DTC genetic testing than those less than 40 years old (OR = 2.42). Male providers were more likely to feel prepared to answer questions than female providers (OR = 2.65). Among respondents who reportedly were aware, family practitioners were more likely than internists (OR = 3.30) to think DTC testing was clinically useful, and 18.9% had patients ask questions or bring in test results. The small
percent of physicians who were aware of DTC genetic testing or felt prepared to answer questions about it suggests that education
of providers will be necessary if testing becomes more widespread. 相似文献
10.
Perceived risk is a complex concept that influences the genetic counseling process and can affect client coping and behavior.
Although the association between family history and risk perception is well recognized in the literature, no studies have
explored this relationship specifically in those seeking genetic susceptibility testing for a common chronic condition. REVEAL
is a randomized trial assessing the impact of APOE disclosure and genetic risk assessment for Alzheimer’s disease (AD). Using
baseline REVEAL data, we hypothesized that there would be a significant association between the degree of AD family history
and risk perception of AD, and that this relationship would be stronger in those who believed that genetics is a very important
AD risk factor. In our sample of 293 participants, we found that a higher self-perceived risk of AD was associated with strength
of family history of AD (p < 0.001), belief in genetics as an important AD risk factor (p < 0.001), being female (p < 0.001) and being Caucasian (p = 0.02). These results are the first to demonstrate the association between family history and risk perception in persons
volunteering for genetic susceptibility testing for a common complex disease. 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.
Powell KP Christianson CA Cogswell WA Dave G Verma A Eubanks S Henrich VC 《Journal of genetic counseling》2012,21(3):469-478
To assess the educational needs of North Carolina primary care physicians (PCPs) about direct-to-consumer (DTC) genetic testing,
surveys were mailed to 2,402 family and internal medicine providers in North Carolina. Out of 382 respondents, 323 (85%) felt
unprepared to answer patient questions and 282 (74%) reported wanting to learn about DTC genetic testing. A total of 148 (39%)
were aware of DTC genetic testing. Among these, 63 (43%) thought DTC genetic testing was clinically useful. PCPs who felt
either unprepared to answer patient questions (OR = 0.354, p = 0.01) or that DTC genetic testing was clinically useful (OR = 5.783, p = 0.00) were more likely to want to learn about DTC genetic testing. PCPs are interested in learning about DTC genetic testing,
but are mostly unaware of DTC testing and feel unprepared to help patients with DTC testing results. Familiar and trusted
channels that provide the information and tools PCPs need to help answer patient’s questions and manage their care should
be used when creating educational programs. 相似文献
13.
L. Brent Hafen Rebecca S. Hulinsky Sara Ellis Simonsen Stephanie Wilder Nancy C. Rose 《Journal of genetic counseling》2009,18(4):395-400
In order to evaluate the utility of genetic counseling at the time of first trimester screening in patients with no previously
identified genetic concerns, we reviewed family history data for 700 women seen for genetic counseling in Utah during 2005-2006.
The mean maternal age was 35 years (Range: 16–47 years). The majority of patients seen were non-Jewish Caucasians (90.8%,
634/700). A three-generation pedigree was obtained from each woman by one of two certified genetic counselors and subsequently
classified as “negative” (no birth defects/genetic disorders); “positive” (birth defect or genetic condition with a minimal/low
risk of recurrence; additional evaluation/genetic testing during pregnancy not indicated); or “significant” (birth defect
or genetic condition with an increased risk of recurrence; additional evaluation/genetic testing during the pregnancy indicated).
About 72% (501/700) of the histories were negative, 19% (134/700) were positive, and about 9% (65/700) were significant. Among
patients with significant family histories, 66% (n = 43) were women less than 35 years of age. We conclude that assessing a patient’s family history at the time of first trimester
serum screening is a valuable resource for pregnancy management. 相似文献
14.
Kausmeyer DT Lengerich EJ Kluhsman BC Morrone D Harper GR Baker MJ 《Journal of genetic counseling》2006,15(6):409-431
In order to promote ongoing quality improvement of not only the Penn State Cancer Genetics Program, but also other cancer risk assessment programs throughout the country, we developed, piloted and conducted a survey to explore patient expectations, experiences, and satisfaction with the cancer genetic counseling process. The comprehensive survey was mailed to 340 eligible patients, 156 (45.9%) of whom returned the completed survey within the allotted time. Responses to closed-ended questions were tallied and open-ended questions were content analyzed. Major findings show that: (1) Patients were seeking cancer-related information and support throughout the cancer risk assessment process and were interested in participating in available research studies; (2) The setting in which patients are seen for cancer risk assessment may pose potential emotional ramifications; (3) Misperceptions regarding insurance discrimination and lack of insurance coverage persist; (4) Patients view the genetic counselor as responsible for updating them about new discoveries. Specific recommendations for cancer genetics programs are included. 相似文献
15.
Akke Albada Sandra van Dulmen Roel Otten Jozien M. Bensing Margreet G. E. M. Ausems 《Journal of genetic counseling》2009,18(4):326-338
This article describes the stepwise development of the website ‘E-info geneca’. The website provides counselees in breast cancer genetic counseling with computer-tailored information and a question prompt
prior to their first consultation. Counselees generally do not know what to expect from genetic counseling and they tend to
have a passive role, receiving large amounts of relatively standard information. Using the “intervention mapping approach,”
we developed E-info geneca aiming to enhance counselees’ realistic expectations and participation during genetic counseling. The information on this
website is tailored to counselees’ individual situation (e.g., the counselee’s age and cancer history). The website covers
the topics of the genetic counseling process, breast cancer risk, meaning of being a carrier of a cancer gene mutation, emotional
consequences and hereditary breast cancer. Finally, a question prompt encourages counselees to prepare questions for their
genetic counseling visit. 相似文献
16.
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
17.
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
18.
Graves KD Christopher J Harrison TM Peshkin BN Isaacs C Sheppard VB 《Journal of genetic counseling》2011,20(6):674-689
We examined healthcare providers’ perceptions of genetic counseling and testing in African American women at moderate to high-risk
of carrying a BRCA1/2 mutation. We conducted 20 in-depth interviews with genetic counselors (n = 5), medical oncologists (n = 8), obstetrician/gynecologists (n = 2) and surgeons (n = 5). Interviews were audiotaped, transcribed and independently coded by two individuals using a content analysis approach.
Seven themes emerged relevant to providers’ perceptions of African American women’s use of BRCA1/2 genetic services: access factors, cultural beliefs and preferences, effects of testing, patient motivators for genetic counseling
and testing, patient-provider communication, reasons for provider referral, and reasons for patient refusal. Providers identified
individual- and system-level barriers to African American women’s use of genetic services, including lack of follow-up after
referrals to genetic specialists and challenges to obtaining financial coverage for under- and uninsured high-risk women.
Results have implications for physician and patient education regarding appropriate referrals to and uptake of genetic services
in at-risk African American women. 相似文献
19.
Adolescents comprise a portion of women who present to genetic counselors prenatally. In this study, prenatal genetic counselors
(N = 128) were surveyed regarding their perceptions of genetic counseling sessions for adolescent (ages 13–19) and adult (ages
20–34) patients. Counselors perceived differences in methods used to communicate risk information for adolescent versus adult
populations. Respondents reported that it is more difficult for adolescents to understand prognostic information than adults.
They also noted differences between adult and adolescent populations with respect to the people who typically accompany the
patient to the session. Respondents stated that adolescents were accompanied by a parent, friend, or sibling, which differed
from adults who reportedly were accompanied by a significant other, father of the pregnancy, or by no one. These findings
suggest it is important to recognize that adolescent patients are in a unique stage of their development which may influence
a prenatal genetic counseling session. 相似文献
20.
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