Communication of Genetic Risk Information to Daughters in Families with Fragile X Syndrome: The Parent’s Perspective

Parental approaches to communicating information about genetic disorders to their children may be an important determinant in how the children manage stress as well as their adjustment and adaptation to that information. We explored communication patterns through structured interviews with 46 parents of daughters who learned about their genetic risk status as minors. Three different levels of knowledge about fragile X syndrome were explored: 1) informing that it has been diagnosed in the family and is an inherited disorder, 2) informing about the possibility of a daughter being a carrier, and 3) if testing had been done, informing the daughter of her actual carrier status. Additionally, parental perceptions of their daughter’s understanding of the information were explored along with frequency of discussions. We found that communication about genetic risk was initiated by the parents. Five disclosure patterns were identified with variations in style, content, and frequency of communication related to the information that was being disclosed. Aspects of resilient communication were present for all levels of disclosure; however, as the information became more personally relevant for the daughter such as disclosure about the possibility of “being a carrier” for fragile X syndrome and there was uncertainty regarding potential outcomes, the conversations included fewer resilient characteristics. Uncertainty about what and how to present information may negatively affect a parent’s ability to include elements of resilient communication when disclosing genetic risk information.     

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.     

Emotional Reaction to Fragile X Premutation Carrier Tests Among Infertile Women

Female fragile X premutation carriers are at ∼10-fold increased risk of premature ovarian failure (follicle stimulating hormone >40 mIU/mL, amenorrhea, age <40). A milder degree of premature ovarian aging (diminished ovarian reserve, where follicle stimulating hormone levels are typically 10–20 mIU/mL) results in infertility. Approximately 10% of fertility clinic patients have this diagnosis. A cohort of 20 women diagnosed with diminished ovarian reserve provided a blood specimen (confidential results), and completed structured questionnaires that assessed emotional reactions to potentially being a premutation carrier (pretest questionnaire, n = 20) and the posttest known carrier status (3 month follow-up questionnaire, n = 18 non-carriers). Responses were measured using 9-point scales, and analyzed with Fisher exact and Wilcoxon exact tests. While most participants did not view fragile X premutations as a serious medical condition, perceptions of seriousness were positively correlated with anger and regret about not knowing sooner of the potential association of these premutations with infertility. Overall, when women (pretest) imagined themselves as carriers, their self-esteem and Health Orientation Scale responses were unchanged with the exception of feeling more afraid (p = 0.004). Despite strongly wishing for negative test results, they were glad to know there might be a medical explanation for their infertility. Financial Support: This work was financially supported by a University of Virginia School of Medicine Research & Development Award.     

Influence of Genetic Risk Information on Parental Role Identity in Adolescent Girls and Young Women from Families with Fragile X Syndrome

Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS). Parental role salience included the participants’ desire “to be a mother” and the importance they placed on this role. Enactment focused on the participants’ views regarding ways to become a mother (reproductive options), parenting a child affected by FXS, and the development of partner relationships (marriage). Participants completed the FXS Adolescent Interview and the FX-Visual Analog Scale. Participants’ knowledge of their genetic risk status appears to have influenced both salience and enactment of the parental role, and the effect varied based on carrier status. For many, knowledge of genetic risk appears to have led to reappraisal, redefinition, and re-engagement with the goal of becoming a parent. This process was prominent in those who were carriers and less so in those who were at-risk, and it did not typically occur in those who were non-carriers. Findings offer valuable insight into the impact of genetic risk information on developing perceptions of the parental role and offer new directions for genetic counseling with adolescents and young women with a family history of FXS.     

Providers’ Perceptions and Practices Regarding <Emphasis Type="BoldItalic">BRCA1/2</Emphasis> Genetic Counseling and Testing in African American Women

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.     

Awareness,Perceptions, and Provider Recommendation Related to Genetic Testing for Hereditary Breast Cancer Risk among At-Risk Hispanic Women: Similarities and Variations by Sub-Ethnicity

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.     

Genetic Testing Likelihood: The Impact of Abortion Views and Quality of Life Information on Women’s Decisions

Little is known about factors predicting the likelihood of choosing genetic testing in college aged women versus older women, including knowledge of quality of life (QOL) associated with a disorder. Using vignettes with female college students (Experiment 1: n = 257, mean age = 19.70 yrs) and female faculty/staff/alumni (Experiment 2: n _nulliparous = 83, mean age = 30.20 yrs; n _mothers = 53, mean age = 33.77 yrs), we examined the contribution of multiple factors to predicting genetic testing likelihood for cystic fibrosis. We investigated malleable situational factors (style of genetic risk presentation and providing QOL information including physical and social aspects) and stable dispositional factors (abortion views). Parity (i.e., prior births) was more influential in women’s genetic testing likelihood than was age. Greater acceptability of abortion for oneself and self-assessed knowledge following QOL information were predictors of higher testing likelihood for college students. Greater acceptability of abortion for another person was a predictor for nulliparous women. Abortion views moderated the effect of predictors for nulliparous women and mothers. Findings encourage genetic counselors to utilize QOL information to promote informed decision making through genetic testing.     

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.     

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.     

Acculturation and Familiarity With, Attitudes Towards and Beliefs about Genetic Testing for Cancer Risk Within Latinas in East Harlem, New York City

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.     

Living at Risk: The Sibling’s Perspective of Early-Onset Alzheimer’s Disease

Early-onset Alzheimer’s disease (EOAD) is an increasingly diagnosed condition and is associated with genetic risk factors. This is one of the first studies exploring the lived experience of siblings of individuals with EOAD. We used structured questionnaires and semi-structured interviews to assess a broad range of siblings’ experiences with and beliefs about EOAD, including knowledge, perceptions of personal risk, level of worry, and effects on life decisions. Participants (n = 24) were predominantly female (62.5%) and middle-aged (mean = 56.8 years; range 37–83). When asked about risk factors, genetics was cited most frequently (62.5%). Several potential means of reducing AD risk were endorsed, with 54% reporting engagement in behaviors for this purpose (e.g., keeping mentally active). Participants ranged widely in their perceived personal risk of AD (range: 0–100; mean = 35.6%), with higher perceived risk associated with worry about AD (p < 0.01). Understanding siblings’ experiences with EOAD can inform how genetic counselors and healthcare professionals work with this population to facilitate risk communication and decision-making about testing and healthcare.     

Positive Illusions of Social Competence in Girls with and Without ADHD

We compared social self-competence ratings in 9–12 year old girls with (n = 42) versus without (n = 40) ADHD, relative to ratings of the girls’ social competence made by mothers, teachers, and blind raters during a social laboratory task. Relative to scores from mothers, teachers, and the lab-task, girls with ADHD over-estimated their competence significantly more than control girls. Over-estimates were greater for girls with ADHD who also had heightened oppositional-defiant symptoms, or lower depressive symptoms. Over-estimates were positively related to a socially desirable reporting bias for girls with ADHD, but not for control girls, suggesting that girls with ADHD attempt to present themselves in an unduly positive, self-protective light. For girls with ADHD, over-estimates also were positively related to maladjustment and negatively related to adjustment. However, for girls without ADHD, over-estimates were positively related to adjustment. Overall, over-estimates of competence function differently in girls with and without ADHD.     

Friendship as Protection from Peer Victimization for Girls with and without ADHD

The goal of this study was to examine the ability of friendship to moderate the association between behavioral risk and peer victimization for girls with attention-deficit/hyperactivity disorder (ADHD; n = 140) and comparison girls (n = 88) in a 5-week naturalistic summer camp setting. Participants were an ethnically and socioeconomically diverse group of girls ages 6–12. Parents and teachers reported on pre-summer internalizing behavior, externalizing behavior, and social competence. Participants reported on friendships and peer victimization through a peer report measure at the summer camps; friendship was scored via mutual nominations. Pre-summer externalizing behavior, internalizing behavior, and low social competence predicted peer victimization at the summer camps. Friendship moderated the association between behavioral risk and victimization for the entire sample, such that the presence of at least one friend reduced the risk of victimization. Additional analyses suggested that girls with ADHD were no more or less protected by the presence of a friendship than were comparison girls. Finally, preliminary analyses suggested that girls having only friends with ADHD were not significantly less protected than girls with at least one comparison friend. Future directions and implications for intervention are discussed.     

An Ecological Risk Model for Early Childhood Anxiety: The Importance of Early Child Symptoms and Temperament

Childhood anxiety is impairing and associated with later emotional disorders. Studying risk factors for child anxiety may allow earlier identification of at-risk children for prevention efforts. This study applied an ecological risk model to address how early childhood anxiety symptoms, child temperament, maternal anxiety and depression symptoms, violence exposure, and sociodemographic risk factors predict school-aged anxiety symptoms. This longitudinal, prospective study was conducted in a representative birth cohort (n = 1109). Structural equation modeling was used to examine hypothesized associations between risk factors measured in toddlerhood/preschool (age = 3.0 years) and anxiety symptoms measured in kindergarten (age = 6.0 years) and second grade (age = 8.0 years). Early child risk factors (anxiety symptoms and temperament) emerged as the most robust predictor for both parent-and child-reported anxiety outcomes and mediated the effects of maternal and family risk factors. Implications for early intervention and prevention studies are discussed.     

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.     

Attitudes Toward Fragile X Mutation Carrier Testing from Women Identified in a General Population Survey

Fragile X syndrome is primarily due to a CGG repeat expansion found in the FMR1 X-linked gene. In a previous study, we conducted focus groups with women to assess their attitudes towards fragile X carrier screening. In this follow-up study, we conducted in-depth interviews of general population reproductive-age women who were identified as carriers. We explored their attitudes toward testing for carrier status of the fragile X mutation. These women underwent screening primarily to participate in a research project rather than in search of a diagnosis for specific symptoms. As such, these women were wholly unprepared for positive carrier results. Their responses about their results and carrier screening, in many cases, were being worked out over the course of the interview itself. The most salient finding of this work is the apparent lack of relevance of carrier status to these women. Many expressed that although the information could be relevant in the future, it is not relevant at this stage of their lives in terms of family planning (either with respect to having unaffected offspring or to premature ovarian failure) and personal relationships. Although issues of abortion seemed prominent in the focus groups, we found that carrier status did not have an apparent effect on women’s attitudes about termination. We hypothesize this may be related to the fact that women had not processed their new carrier status and had not related it to previously-formed personal opinions. The findings of this work have significant implications for genetic counseling and population screening. Genetic counselors should be mindful that general population women may not recognize the immediate importance of their carrier status even when literature is provided and discussed prior to providing a sample. As part of comprehensive genetic counseling, counselors should identify the reproductive life stage of the woman receiving the new information and help her identify when this information would be more meaningful in her life. Counselors can assist in setting up a personalized road map with specific types of services that will be more applicable to the woman as her carrier status becomes more relevant.     

Educational Needs of Primary Care Physicians Regarding Direct-to-Consumer Genetic Testing

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.     

Does Childhood Executive Function Predict Adolescent Functional Outcomes in Girls with ADHD?

We prospectively followed an ethnically and socioeconomically diverse sample of preadolescent girls with ADHD (n = 140) and matched comparison girls (n = 88) over a period of 5 years, from middle childhood through early/mid-adolescence. Our aim was to examine the ability of measures of childhood executive function (EF) to predict functional outcomes in adolescence. Measures of neuropsychological functioning comprised the childhood predictors, with academic, social, and global functioning serving as adolescent criterion measures. Results indicated that childhood EF predicted (a) academic achievement and social functioning across our entire sample (independent of diagnostic group status) and (b) global functioning only in girls with ADHD (independent of IQ). These results highlight the non-specificity of EF deficits and suggest the importance of assessing and developing interventions that target EF impairments, particularly in those at high-risk for negative outcomes, in order to prevent long-term difficulties across a range of important functional domains.     

Socioeconomic Status and Psychological Function in Children with Chromosome 22q11.2 Deletion Syndrome: Implications for Genetic Counseling

The purpose of this study is to examine the association between parental socio-economic status (SES) and childhood neurocognition and behavior in children with chromosome 22q11.2 deletion syndrome (22q11DS). Although undoubtedly, the deletion of genes in the 22q11.2 interval is primarily responsible for the psychological manifestations, little is known about the role of the environment in either mitigating or contributing to these problems. We examined the association of parental socio-economic status (SES) with cognition and behavior in children with 22q11DS (n = 65) and matched healthy control subjects (n = 52), since SES is a component of family resources. We found that in children with 22q11DS, higher SES correlated with better overall functioning (p < .01) and social skills (p < .01), and less frequent oppositional defiant behavior (p < .001). These findings were in contrast to the control subjects in whom SES correlated with cognition and achievement, but not behavior. Our results indicate that environmental factors influence the behavioral phenotype in children with 22q11DS, providing a framework for developing appropriate interventions. As such, genetic counseling for families with 22q11DS may include consideration of family resources and inclusion of other health professionals, such as social workers, to explore with the family available social supports and resources.