Factors Influencing Perceptions of Breast Cancer Genetic Counseling among Women in an Urban Health Care System

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.     

Midwives’ Approach to Genetic Diseases and Genetic Counseling in Denizli, Turkey

The purpose of this study was to evaluate Denizli midwives’ self-reported knowledge of genetic diseases and genetic counseling. Data was collected on forms that obtained information about midwives approaches to basic genetics, genetic disorders, and genetic counseling (response rate = 70.1%). The highest response rate of midwives describing themselves as “knowledgeable” about basic genetic information was for mitosis and meiosis with 4.8%, about genetic disorders was for phenylketonuria with 61.1%, and about genetic counseling was for recommending ultrasonography during pregnancy with 98.1%. The source for basic genetics information for 56.4% of participants was in their school level classes. None of the midwives felt that they had sufficient knowledge about genetic counseling or screening and 76.4% would like to attend an educational course. Even though the midwives have recognized their knowledge deficit they occasionally give genetic counseling. As a result of this study a genetics course is planned for midwives so they can actively participate in the prevention and early diagnosis of genetic diseases.     

Predictors of Parent-Reported Attention-Deficit/Hyperactivity Disorder in Children Aged 6–7 years: A National Longitudinal Study

This study examined the prenatal, postnatal and demographic predictors of parent-reported attention-deficit/hyperactivity disorder (ADHD) in an Australian population-based sample. Participants were families participating in the Longitudinal Study of Australian Children. There were approximately even numbers of males (51%) and females (49%) in the sample. Predictors of parent-reported ADHD status at Wave 2 (children aged 6–7 years) which were measured at Wave 1 (children aged 4–5 years) included cigarette smoking and alcohol use during pregnancy (prenatal factors); maternal postnatal depression, intensive care at birth, birth weight, and gestation (postnatal factors); and child gender, primary caregiver education, income, family composition, and maternal age at childbirth (socio-demographic factors). We found that male gender, cigarette smoking during pregnancy, and maternal postnatal depression were the only significant predictors (at the 5% level) of ADHD in the adjusted analysis (N = 3,474). Our results are consistent with previous findings that male gender and cigarette smoking during pregnancy are risk factors for ADHD. In addition, we found that postnatal depression was predictive of parent-reported ADHD.     

Expanding Roles: A Survey of Public Health Genetic Counselors

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.     

At-Risk Marriages after Compulsory Premarital Testing and Counseling for β-Thalassemia and Sickle Cell Disease in Saudi Arabia, 2005–2006

Results from a screening program for sickle cell disease and β-thalassemia suggest about 90% of couples in Saudi Arabia at risk of having affected children still decide to marry. This study determined the rate of at-risk marriages and identified several factors that may prevent at risk couples from marrying. The marriage status of 934 at-risk couples was determined from original screening program records in the Ministry of Health. Of 934 couples, 824 married (88.2%) and 110 (11.8%) did not. A case–controlled study was conducted on 104 couples who did not marry (cases) and 478 couples who did marry (controls) in order to assess relationships between various cultural and social factors and marriage decisions. In the case-controled study, 28.8% of couples (30/104) who did not marry (cases) knew their disease or carrier status before screening compared to 18% (86/478) of those who married (controls). Reasons couples gave for proceeding with marriage included: wedding plans could not be canceled, and fear of social stigma. Couples who did not marry reported being influenced by prior knowledge of their disease or carrier status and whether they or family members were affected. Approximately half of the cases and controls (n = 270, 46.4%) thought it best to undergo screening before proceeding with the engagement and wedding plans. Most couples received no advice to participate in genetic counseling services. Marriage decisions for the small number who received genetic counseling (n = 168, 27.6%) did not differ significantly from those that received no counseling. Recommendations are made for improving the effectiveness of this screening program.     

On Using a Cancer Center Cancer Registry to Identify Newly Affected Women Eligible for Hereditary Breast Cancer Syndrome Testing: Practical Considerations

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.     

Interest and Beliefs About BRCA Genetic Counseling Among At-Risk Latinas in New York City

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.     

The Milwaukee Inventory for Subtypes of Trichotillomania-Adult Version (MIST-A): Development of an Instrument for the Assessment of “Focused” and “Automatic” Hair Pulling

This article describes the development of the Milwaukee Inventory for Subtypes of Trichotillomania-Adult Version (MIST-A), which was designed to assess “automatic” and “focused” pulling subtypes of trichotillomania (TTM). Participants reporting symptoms of TTM (n = 1,697) completed an internet survey; participants were later randomly assigned to either Exploratory (n = 848) or Confirmatory (n = 849) Analyses. Exploratory Analyses examined the development and psychometric properties of the MIST-A. Results of an exploratory factor analysis revealed a two-factor solution. Factor 1 (“focused” pulling scale) and 2 (“automatic” pulling scale) consisted of ten and five items respectively, with both scales demonstrating adequate internal consistency and good construct and discriminant validity. Subsequent confirmatory factor analysis demonstrated support for the scale’s underlying factor structure. The MIST-A provides researchers with a reliable and valid assessment of “automatic” and “focused” pulling, although replication using a clinically ascertained sample is necessary.

Women with <Emphasis Type="Italic">BRCA1</Emphasis> or <Emphasis Type="Italic">BRCA2</Emphasis> Mutations Renegotiating a Post-Prophylactic Mastectomy Identity: Self-Image and Self-Disclosure.

The Facing Our Risk of Cancer Empowered (FORCE) website is devoted to women at risk for hereditary breast and ovarian cancers. One of the most frequently discussed topics on the archived messaged board has been prophylactic mastectomy (PM) for women with a BRCA1/2 mutation. We reviewed the messages, over a 4 year period, of 21 high risk women and their “conversational” partners who originally posted on a thread about genetic testing, genetic counseling and family history. We used a qualitative research inductive process involving close reading, coding and identification of recurrent patterns, relationships and processes in the data. The women sought emotional support, specific experiential knowledge and information from each other. They frequently found revealing their post PM status problematic because of possible negative reactions and adopted self-protective strategies of evasion and concealment outside of their web-based community. The FORCE message board was considered to be a safe place in which the women could be truthful about their choices and feelings. Results are discussed in terms of Goffman’s concepts “stigma” and “disclosure” and Charmaz’s concepts “interruptions,” “intrusions” and a “dreaded future.”     

Reading Between the Lines: A Comparison of Responders and Non-responders to a Family History Questionnaire and Implications for Cancer Genetic Counselling

Family history questionnaires (FHQ) are useful tools for cancer genetic counseling, providing an informational basis for pedigree construction and individualized cancer risk assessment. Reported return rates of mailed FHQs amongst familial cancer clinics that utilize them are lower than desired however, and it is unknown whether patients perceive required completion of a FHQ as a barrier to access of cancer genetics services. This study critically evaluated the use of a mailed FHQ for all routine new patient referrals to a single hereditary cancer clinic in Quebec, Canada. Reasons for response/non-response to a FHQ and the effect of administration of a questionnaire on patients’ self-reported level of motivation to pursue genetic counseling, were examined. Of 112 eligible individuals referred during the study period, 86 completed a semi-structured telephone survey; of these, 45% had returned the mailed FHQ prior to the telephone survey (Responders) and 55% had not (Non-responders). Overall, the majority of participants indicated a FHQ is an acceptable and understandable method of collecting family history information. Most prevalent reasons for not returning the FHQ were (bad) timing (56%), and difficulty accessing family history information (46%). Non-response was significantly associated with difficulty in asking relatives for the requested information (p = 0.011), and Non-responders cited fewer overall perceived benefits of cancer genetic counseling as compared with Responders (p < 0.0001). One quarter of Non-responders returned the mailed FHQ following administration of the telephone survey, suggesting implementation of a follow-up prompt is a cost-effective way to increase response.     

Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing

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.     

Explaining Mendelian Inheritance in Genetic Consultations: An IPR Study of Counselor and Counselee Experiences

The explanation of Mendelian inheritance is a key component of most genetic counselling consultations, yet no evidence base exists for this area of practice. This qualitative study used Interpersonal Process Recall (IPR) to explore how information about X-linked inheritance is provided and received in genetic counseling. Twelve consultations involving two senior genetic counselors and 21 counselees were videotaped. Section(s) of videotape featuring the explanation were subsequently played back separately to both counselees and counselors and their responses and reflections recorded. All interviews were fully transcribed and analysed using the constant comparison method. A personalised diagram, drawn “live” by the counselor during the consultation was recalled by counselees as being central to their understanding of the “bottom line”. This helped bridge the gap between scientific information and their family experience and did not appear to require a baseline understanding of genetic concepts such as genes or chromosomes. Counselors reflected on the diagram’s positive impact on the way they sequenced, paced and tailored the explanation. A positive counselor-counselee relationship was vital even during this educative exchange: for counselees to feel at ease discussing complex genetic information and to help gauge counselee understanding.     

A Model of Professional Development for Practicing Genetic Counselors: Adaptation of Communication Skills Training in Oncology

Ongoing professional development for practicing genetic counselors is critical in maintaining best practice. Communication skills training (CST) workshops for doctors in oncology, utilizing trained actors in role plays, have been implemented for many years to improve patient-centred communication. This model was adapted to provide professional development in counseling skills for practicing genetic counselors, already highly trained in counseling skills. Detailed evidence based scenarios were developed. Evaluation of participants’ experience and perceived outcomes on practice included surveys immediately post workshops (2002, 2004, 2005, 2008 (×2); n = 88/97), 2–5 years later (2007; n = 21/38) and a focus group (2007; n = 7). All rated workshops as effective training. Aspects highly valued included facilitator feedback, actors rather than role-playing with peers and being able to stop and try doing things differently. Perceived outcomes included the opportunity to reflect on practice; bring focus to communication; motivation and confidence. The high level of satisfaction is a strong endorsement for ongoing communication skills training in this format as part of professional development.     

What Predicts the Use of Genetic Counseling Services After the Birth of a Child with Down Syndrome?

In the state of Victoria, Australia, a government funded genetic counseling service exists to meet the needs of families. An audit showed that many families do not use this service after the birth of a child with a genetic problem. To investigate this we surveyed families of children born with Down syndrome over 2 years in Victoria. Questionnaires were completed by 74 mothers, of whom only 18 had received genetic counseling between the birth and the time of the study (mean 3.5 years). Of those not receiving genetic counseling, 71% said they were not offered or had not heard of it. Mothers who had genetic counseling were younger than those who had not, and were more likely to have attended University. Those who had genetic counseling indicated less satisfaction with care at the diagnosis and were more likely to perceive their child as unwell at birth than those who were aware of genetic counseling but did not have it. Of those who did not have genetic counseling, over half were unclear about what it is, although 74% agreed with the statement genetic counseling is most useful when planning to have another child. Of those who had heard of genetic counseling, 73% said they were not sure how it could help. Many families with children with Down syndrome are not aware of the existence or functions of genetic counseling. With greater awareness, some may still choose not to have genetic counseling, but others enunciated needs that could be met by this service if it were offered to them.     

“I Wouldn’t Classify Myself as a Patient”: The Importance of a “Well-being” Environment for Individuals Receiving Counseling about Familial Cancer Risk

Many individuals receiving genetic counseling are healthy with no need for clinical cancer services. We have recently relocated our cancer genetic clinic to a small house on the outskirts of a hospital site which incorporates many elements proven to be important in creating a “well-being” environment. This study explored participants’ perceptions of such an environment. Eleven semi-structured telephone interviews were conducted with women who had attended the new cancer genetic clinic. All were at high risk of familial cancer, five were gene carriers and three had a personal diagnosis of cancer. The new clinic was perceived to be less medical and more relaxing than other clinics, encouraged other family members to attend in support of the attendee and did not appear to impede information comprehension. The importance of not being made to feel like an ill patient was apparent. A desire for a quiet area allowing time for reflection whilst waiting for, and following, counseling was identified. A poorly designed counseling area could reduce the quality of the interaction between patient and counselor. Consideration of specific environmental design features may promote individuals’ well-being and make those attending genetic counseling feel less like “patients.” Larger studies should seek to explore further the potential associations between factors such as environmental design, psychological well-being and comprehension of risk information.     

Awareness and Preferences Regarding <Emphasis Type="Italic">BRCA1/2</Emphasis> Genetic Counseling and Testing Among Latinas and Non-Latina White Women at Increased Risk for Hereditary Breast and Ovarian Cancer

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.     

Re-conceptualizing Risk in Genetic Counseling: Implications for Clinical Practice

Risk communication is an important component of genetic counseling. However, many authors have noted that after genetic counseling, subjective risk frequently does not match the objective risk provided by the counselor. This inevitably leads to the conclusion that the risk communication process was not “effective”. There has been much discussion about how this problem can be better addressed, such that our clients recall numeric risks more accurately after genetic counseling. This article draws on the risk and probability literature from other fields (including psychology, economics, philosophy and climate change) to deconstruct the concepts of “risk” and risk perception to attempt to expand upon and develop thought and discussion about and investigation of the risk communication process in genetic counseling.     

The Use of Family History Questionnaires: An Examination of Genetic Risk Estimates and Genetic Testing Eligibility in the Non-responder Population

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.