Under the Genetics Services Research Unit of the SBRB, research is conducted into genetic counseling interventions that may improve practice or the achievement of desirable counseling outcomes. One avenue of this research is devoted to questions in prenatal genetic counseling. One study seeks to estimate the prevalence of ambivalence about undergoing diagnostic testing among women referred for prenatal genetic counseling, and the predictors and decisional consequences of such ambivalence. Women seen at six different U.S. prenatal clinics for genetic counseling at increased risk for carrying a fetus with trisomy 21 are being asked to complete a questionnaire on three occasions: prior to counseling; immediately after counseling, and later by telephone. These data will be used to describe the extent to which a sample of U.S. women referred for prenatal counseling based upon maternal age or results of a screening test are ambivalent about prenatal testing and might benefit from interventions aimed at improving the quality of decision-making.? While the overall goal of this study is to determine the extent to which women attending a prenatal genetics clinic appointment for genetic counseling are ambivalent toward undergoing prenatal diagnostic testing (amniocentesis or chorionic villus sampling), the specific study aims are:? 1. To describe women?s attitudes toward prenatal testing, including the extent to which they hold ambivalent thoughts or feelings toward undergoing testing. ? 2. To examine predictors of ambivalence.? 3. To determine the relationship between ambivalence, attitudes, ? intentions to undergo prenatal testing, test choice, and quality of the decision. ? A second pilot study is being conducted in conjunction with Positive Exposure, a non-profit organization, assessing the potential value of a photography and videographic intervention on self-image, self-concept and hopefulness among young adults with craniofacial conditions. If the intervention has durable positive outcomes for participants, concepts from the intervention will be considered for translation to other settings. ? A third study is being conducted by a genetic counseling graduate student looking at ambivalence towards undergoing prenatal diagnostic testing following infertility.? Another graduate student study involves interviewing individuals with visitble differences who were seen in a genetics clinic in the past five years. The intention of this study is to explore participation in efforts to education others about their condition and ultimately to inform how genetic counseling sessions are conducted.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG200317-03
Application #
7316056
Study Section
(SBRB)
Project Start
Project End
Budget Start
Budget End
Support Year
3
Fiscal Year
2006
Total Cost
Indirect Cost
Name
Human Genome Research
Department
Type
DUNS #
City
State
Country
United States
Zip Code
Sapp, Julie C; Johnston, Jennifer J; Driscoll, Kate et al. (2018) Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot. Am J Hum Genet 103:358-366
Lewis, Katie L; Umstead, Kendall L; Johnston, Jennifer J et al. (2018) Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial. Am J Hum Genet 102:540-546
Biesecker, B B; Woolford, S W; Klein, W M P et al. (2017) PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing. Clin Genet 92:172-179
Biesecker, B B; Erby, L (2008) Adaptation to living with a genetic condition or risk: a mini-review. Clin Genet 74:401-7
Loewenstein, Johanna; Sutton, Erica; Guidotti, Rick et al. (2008) The art of coping with a craniofacial difference: helping others through ""Positive Exposure"". Am J Med Genet A 146A:1547-57
Biesecker, Barbara Bowles (2008) Commentary on ""My Story: A Genetic Counselor's Journey from Provider to Patient"" J Genet Couns 17:419-423
Turner, Joyce; Biesecker, Barbara; Leib, Jennifer et al. (2007) Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma. Am J Med Genet A 143A:2089-97
Sutton, Erica J; McInerney-Leo, Aideen; Bondy, Carolyn A et al. (2005) Turner syndrome: four challenges across the lifespan. Am J Med Genet A 139A:57-66
McInerney-Leo, Aideen; Biesecker, Barbara Bowles; Hadley, Donald W et al. (2005) BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships. Am J Med Genet A 133:165-9
Gollust, Sarah E; Apse, Kira; Fuller, Barbara P et al. (2005) Community involvement in developing policies for genetic testing: assessing the interests and experiences of individuals affected by genetic conditions. Am J Public Health 95:35-41

Showing the most recent 10 out of 14 publications