Dr. Biesecker's research and teaching efforts target the effectiveness of genetic counseling practice. The rapid integration of genomic 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 in determining how genetic counseling can improve people's 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 genomic sequence information; 2. Distinguishing predictors of decision-making to enhance informed choice; and 3. Assessing models of informed consent to undergo exome sequencing.
Dr. Biesecker has a considerable track record as one of a small group of clinical researchers who have explored psychological adaptation to a variety of rare genetic disorders. Her past work included assessment of factors influencing 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 and 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 Dr. Erby at the Johns Hopkins Bloomberg School of Public Health, 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, coing 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 genomic sequencing in collaboration with a group of health and social psychologists and clinicians. Central to these efforts is an initiative to assess how NHGRI ClinSeq© participants perceive the uncertainty that pervades exome sequencing information. To this end, focus groups were held to explore these perceptions and an uncertainty scale was developed. The items for the scale came from three domains of uncertainty, practical uncertainty, affective uncertainty and trust in the information. Confirmatory factor analysis of baseline data on 473 participants suggests that the scale assesses three factors as planned. Future studies of the role of uncertainty in predicting decisions to learn and use sequence information are planned, including an intervention study to return carrier results.
Finally, Dr. Biesecker has initiated an NIH-wide umbrella protocol for a RCT of two models of consent to undergo genomic sequencing. One model is a "standard" consent discussion and form contrasted with a streamlined "evidence-based" model that focused on central distinctions of genome information with minimal elaboration. Her first NIH RCT has begun in conjunction with Dr. Lawrence Nelson at NICHD 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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Last Updated: September 8, 2013