Four student theses were completed. Each is described below. They will all be presented at the Annual Conference for the National Society of Genetic Counselors in Boston, MA in October, 2012. Leila Jamal: Participation in Whole-Genome Research: Insights from Participants across the Health Spectrum Objective: As consensus practices for collecting, storing, and analyzing genomic sequence data remain lacking, informed consent for research involving whole-genome and whole-exome sequencing (WGS/WES) is being conducted under uncertainty arising from the use of large data sets that favor hypothesis-generating methods of inference. For this reason, informed consent protocols for research involving WGS/WES are experimenting with different models, drawing on scarce evidence for best practices. Objective: to describe themes expressed by research participants enrolled in one of two NIH protocols involving WGS/WES. The purpose of distilling relevant constructs from these interviews was to generate subject matter for an expanded research agenda about the optimal design of informed consent protocols for WGS/WES research. This description of participants experiences is also intended to inform genetic counselors who aim to adapt their practice to the demands of the whole-genome era. Methods: Twenty seven participants in either the ClinSeqTM or Whole Genome Medical Sequencing for Gene Discovery (WGMS) protocols were interviewed 2-8 weeks after their initial enrollment visit to the NIH. A qualitative descriptive analysis was carried out, focusing on a subset of themes that were most commonly referenced. Results: Major topics that emerged included motivations for participation, expectations regarding research results that would be returned, informational privacy and confidentiality. Conclusions: These data suggest that participants in whole-genome research value the informed consent process as an opportunity to establish some control over the terms of their research participation. Individuals value privacy and confidentiality for their ability to protect against discrimination and to preserve control over the perceptions others have of them. Most participants expect to be re-contacted by the study even if their genome sequence data yields no results of interest. Tamandra Morgan: Comprehension and Family Communication of Hereditary Cancer Risk Among African Americans Background: The ways in which family members communicate about hereditary cancer risk may have a significant impact on screening use and choices about predictive genetic testing. There have been many studies examining aspects of family communication about hereditary cancer risk but few have included African American families, creating a hindrance to developing targeted communication strategies. Objective: to better understand how African American patients communicate information from a hereditary breast and ovarian cancer genetic counseling session to their family members. Methods: The study design was a mixed methods approach to assess communication of hereditary breast and ovarian cancer risk in African American families using data from two sources: 1) data obtained from analogue clients who have watched a videotaped simulated cancer genetic counseling session and 2) data obtained through interviews with individuals who have undergone genetic testing. Analogue clients were asked to imagine that they were the client in the video and report what information they would share with their family members. Semi-structured interviews were conducted with eight women on communication of their genetic test results to family members. Results: The first data source identified statistically significant differences between African American and Caucasian analogue clients in several categories of key information. Qualitative interview findings suggest that African American genetic counseling clients are aware of the familial cancer risk implications provided in genetic counseling and they would seek to inform relatives of their risk. Conclusion: Further work involving a larger sample of African American women who have received genetic counseling for hereditary breast and ovarian cancer, is needed to better understand the process of communication in these families. Belen Pappa: The Role of Family Functioning in promoting adaptation among siblings of individuals with Duchenne Muscular Dystrophy Duchenne muscular dystrophy (DMD) is a progressive X-linked recessive condition that affects all muscles. Studies of unaffected siblings of individuals with DMD suggest a wide range of outcomes as they adapt to having a sibling with a life-limiting illness. Few studies have explored the role of DMD-specific family communication (DMD-COMM). Objective: to explore the relationship between family functioning variables, including DMD-COMM, and psychosocial adaptation in 13-18 year-old unaffected siblings of individuals with DMD. Twenty-nine parent-sibling dyads completed self-administered quantitative surveys informed by the Process Model of Family Functioning, and the Resiliency Model for Family Stress. Parents completed measures of family functioning (FAM III), extent of DMD-COMM (developed for this study), and child behavioral problems (Child Behavior Checklist). Siblings completed measures of family functioning (Revised Family APGAR), self-concept (Childrens Piers-Harris Self-Concept Scale), behavioral outcomes (SDQ), and psychosocial adaptation (unpublished validated measure). Both parent- and sibling-reported family functioning were positively related to sibling adaptation in bivariate analyses (r= .452, p=.014;r= .594, p<.001). Talking more about shortened life-expectancy (an item in DMD-COMM) was also associated with higher levels of sibling adaptation (r=.410, p=.03). Multiple linear regression analysis, controlling for socio-demographics, showed that both sibling-reported family functioning (p<.01) and the extent of DMD-COMM (p<.01) were significantly associated with the siblings level of adaptation. Genetic counselors may find family-centered interventions that foster open communication particularly beneficial to adaptation among adolescent siblings of individuals with DMD. Parental Disclosure of G6PD and Its Relationship to Child Health in a Chinese Population Background: Glucose-6-phosphate deficiency (G6PD) is an X-linked enzyme deficiency commonly manifests as food-induced or drug-induced acute hemolytic anemia. To prepare children with G6PD to independently manage their condition, genetic counselors encourage parents to disclose age-appropriate illness information to their affected child. Objective: This study was designed to explore associated factors and patterns of parental disclosure of G6PD to an affected child and its relationship to the child's health. Methods: A cross-sectional study of 94 parents of children with G6PD from Taiwan, Hong Kong and the mainland of China was conducted using paper or web-based surveys written in Chinese. Family history, exposure to G6PD consultation and attitudes regarding G6PD were assessed along with the child's age at disclosure and the extent of disclosure for each of nine key topics. Child health was assessed using the Chinese version of the Child Health Questionnaire-Parent Form (CHQ-PF28) and a 13-item G6PD symptom list. Results: 44.7% of study children had experienced at least one clinically significant symptom of acute hemolytic anemia. Children with an anemia symptom history scored significantly lower on measures of physical and psychosocial health. More extensive parental disclosure regarding G6PD was associated with better child health in both physical and psychosocial domains. Parental disclosure was positively associated with sense of control of G6PD and positive emotions related to G6PD.

Project Start
Project End
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Budget End
Support Year
5
Fiscal Year
2012
Total Cost
$1,159,765
Indirect Cost
Name
National Human Genome Research Institute
Department
Type
DUNS #
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Lamb, Amanda E; Biesecker, Barbara B; Umstead, Kendall L et al. (2016) Family functioning mediates adaptation in caregivers of individuals with Rett syndrome. Patient Educ Couns 99:1873-1879
Turriff, Amy; Levy, Howard P; Biesecker, Barbara (2015) Factors associated with adaptation to Klinefelter syndrome: the experience of adolescents and adults. Patient Educ Couns 98:90-5
Schaa, Kendra L; Roter, Debra L; Biesecker, Barbara B et al. (2015) Genetic counselors' implicit racial attitudes and their relationship to communication. Health Psychol 34:111-9
Jamal, Leila; Sapp, Julie C; Lewis, Katie et al. (2014) Research participants' attitudes towards the confidentiality of genomic sequence information. Eur J Hum Genet 22:964-8
Hooker, Gillian W; Peay, Holly; Erby, Lori et al. (2014) Genetic literacy and patient perceptions of IBD testing utility and disease control: a randomized vignette study of genetic testing. Inflamm Bowel Dis 20:901-8
Biesecker, Barbara B; Erby, Lori H; Woolford, Samuel et al. (2013) Development and validation of the Psychological Adaptation Scale (PAS): use in six studies of adaptation to a health condition or risk. Patient Educ Couns 93:248-54
Truitt, Megan; Biesecker, Barbara; Capone, George et al. (2012) The role of hope in adaptation to uncertainty: the experience of caregivers of children with Down syndrome. Patient Educ Couns 87:233-8
Turriff, Amy; Levy, Howard P; Biesecker, Barbara (2011) Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome. Genet Med 13:966-72
White, V Brook; Leib, Jennifer R; Farmer, Jennifer M et al. (2010) Exploration of transitional life events in individuals with Friedreich ataxia: implications for genetic counseling. Behav Brain Funct 6:65
Sapp, Julie Chevalier; Hull, Sara Chandros; Duffer, Shelby et al. (2010) Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins. Prenat Diagn 30:77-82

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