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Barbara Bowles Biesecker, Ph.D., M.S.

Associate Investigator, Social and Behavioral Research Branch
Head, Genetics Services Unit
Director, JHU/NHGRI Genetic Counseling Training Program

Scientific Summary

Dr. Biesecker's research and teaching efforts target the effectiveness of genetic counseling practice. The rapid integration of genome sequencing into clinical care highlights the importance of these efforts. This new technology raises novel questions about the role of uncertainty in moderating interest and use of genomic information. These questions expand upon Dr. Biesecker's ongoing research into predictors of decisions to undergo genetic testing and adapting to a genetic condition or risk.

The major theme of Dr. Biesecker's research is determining how genetic counseling can improve decision-making and coping strategies. Her work is centered on three major areas:

  1. the role of uncertainty in adapting to the lack of a diagnosis for a rare condition, and in using genome sequence information;
  2. distinguishing predictors of decision-making to enhance informed choice; and
  3. assessing models of informed consent for undergoing genome sequencing.

Dr. Biesecker is one of a small group of clinical researchers who have explored psychological adaptation to a variety of rare genetic disorders. Her past work has included assessment of factors that influence adaptation to living with Klinefelter syndrome, neurofibromatosis, and Huntington Disease risk, and to parenting a child with Down syndrome, pervasive developmental disorder, an undiagnosed condition, Rett syndrome, or at risk for bipolar disease. In each of these cases, adaptation was measured as an outcome of coping with the condition or risk. Dr. Biesecker, in collaboration with Lori Erby, of The Johns Hopkins University, and collaborators from the Patient-Reported Outcomes Measurement Information System (PROMIS) Road Map Initiative, developed the Psychological Adaptation Scale (PAS). The scale includes four sub-domains: self-esteem, spiritual well-being, coping efficacy and social integration. Confirmatory factor analysis suggests that the PAS reliably assesses each of the four domains and overall adaptation across different populations. Each of the studies identified constructs that are highly correlated with adaptation, such as quality of life, but predicted by different independent variables. Future studies are planned to explore interventions to enhance coping effectiveness and thus adaptation.

More recently, Dr. Biesecker has initiated studies of genome sequencing in collaboration with a group of health and social psychologists and clinicians. Central to these efforts is an effort to assess how NHGRI ClinSeq® participants perceive the uncertainties that pervade in exome sequencing information. The team conducted focus groups to explore these perceptions and developed an uncertainty scale drawn from three domains: practical uncertainty, affective uncertainty and trustworthiness. Confirmatory factor analysis of baseline data on over 500 participants suggests that the scale assesses these factors as designed. Dr. Biesecker plans future studies of the role of uncertainties in predicting decisions to learn and use sequence information, including an ongoing intervention study to return carrier results.

Dr. Biesecker has initiated an NIH-wide umbrella protocol for a randomized controlled trial (RCT) of two models of consent to undergo genomic sequencing. One model is a standard consent discussion and form, while the other is a streamlined, evidence-based model focusing on central distinctions of genome information with minimal elaboration. Dr. Biesecker and Lawrence Nelson, M.D., investigator at the Eunice Kennedy Shriver National Institute of Child Health and Human Development, have begun a randomized controlled trial of a large cohort of women consenting to undergo exome sequencing to explore genetic origins of premature ovarian insufficiency.

In 1995, Dr. Biesecker and her colleagues established The Johns Hopkins University/National Human Genome Research Institute 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, cutting-edge genomics and in social science research methods.

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Posted: January 5, 2014