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Barbara B. Biesecker, M.S. Associate Investigator Social and Behavioral Research Branch Head Genetic Services Research Unit Director JHU/NHGRI Genetic Counseling Training Program B.A. St. Olaf College, 1979 M.S. University of Michigan, 1981 (301) 496-3979 (301) 480-3108 barbarab@mail.nih.gov Building 31, Room B1B36 31 Center Dr, MSC 2073 Bethesda, MD 20892-2073 Selected Publications The Johns Hopkins University/National Human Genome Research Institute Genetic Counseling Graduate Program

Ms. Biesecker's research and teaching activities focus on making genetic counseling as effective as possible, a growing challenge as new genetic technologies bring about an avalanche of data and questions about what testing of our genes can reveal. This tremendous amount of genetic information has highlighted the fact that behavioral researchers do not yet know enough empirically about the best ways to help people decide how to use their own genetic information in making health and reproductive decisions. Since genetic counseling has a relatively sparse amount of research to guide its professionals, Ms. Biesecker and her colleagues are on the cutting edge of genetic counseling research.

The major focus of Ms. Biesecker's investigations is determining how genetic counseling can improve people's decision-making and coping abilities. To this end, she is focusing on three major areas: (1) how a person's decision to undergo genetic testing affects his or her psychological well-being and family relationships; (2) how living with a genetic condition affects a person's quality of life; and (3) the overall effectiveness of genetic counseling. Some of her past research has included studies of illness perception and of the quality of life of people who live with genetic conditions, such as achondroplasia and Marfan syndrome. She has also used qualitative methods to explore concerns and appraisals of girls and women with Turner syndrome - in which a female has only one X chromosome - and how they adapt to related social and medical problems. In one of her Turner syndrome studies, infertility was the most prevalent "challenge" among the 97 girls, adolescents and adult women affected by this condition. Furthermore, about a third of participants said their parents and physicians hid from them the fact that infertility is a component of Turner syndrome, thus diminishing their trust in their relatives and health care providers. This study recommended that family members and health care providers be truthful and open with patients about the symptoms and consequences of Turner syndrome and to offer those affected by the condition social guidance and support to help them deal with these problems.

Currently, Ms. Biesecker is conducting a pilot study in anticipation of a larger, randomized control trial investigating women's ambivalence toward prenatal testing and how a genetic counseling intervention might benefit them. Genetic prenatal testing has been available for many years, primarily to determine if parents-to-be are carriers of genetic abnormalities such as Tay-Sachs disease, sickle cell anemia, cystic fibrosis and other genetic disorders. It also is used to test the fetus via the amniotic fluid for disorders such as Down syndrome and neural tube defects. However, no one has assessed the frequency of women's ambivalence towards such tests and how genetic counseling might help them before they potentially face decisions about whether to continue a pregnancy.

Because a vast majority of genetic counselors are trained as clinicians and not as researchers, research training is an important aspect of Ms. Biesecker's activities. In the early 1990s, she and her colleagues established The Johns Hopkins University/NHGRI Genetic Counseling Training Program, which she continues to direct. This graduate program brings together valuable resources from both institutions and from numerous clinical training sites throughout the region. Its goal is to produce genetic counselors skilled in therapeutic counseling and in genetic counseling research methods.

Overall, Ms. Biesecker hopes her work will help establish more effective clinical interventions to allow practitioners to improve the genetic counseling they offer patients. Teaching decision-making skills is an important component of genetic counseling in pediatric and adult genetics as well, and research aimed at improving the outcomes of genetic counseling has important implications for clinical care. New models for service delivery can be developed based on empirical evidence and tested in further studies.

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Last Updated: July 17, 2008