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How will patients, families and doctors handle the coming flood of personalized genetic data?
Date:12/6/2011

ill be clinically useful, and we will work with families to understand what information they desire, and how clinicians should present it."

Project 2, Sequencing, Analysis and Interpretation of Sequencing Data, is led by Peter White, Ph.D., director of the Center for Biomedical Informatics at Children's Hospital. "This project," said White, "aims to build a framework for systematically assessing the gene sequence data we collect, to integrate the data with medical care. We envision Children's Hospital as a working lab to combine genomic analysis with our clinicians' observations and diagnostic expertise to support physicians and families in their decision-making." Members of this project will develop tools and processes for delivering information directly into a patient's electronic health record in ways that are most informative for clinicians and families acting on this information.

Ethical and Psychological Implications of Genome Sequencing is the title of Project 3, led by principal investigator Barbara Bernhardt, M.S. C.G.C., a genetic counselor and Clinical Professor of Medicine at the Perelman School of Medicine of the University of Pennsylvania. She and her co-investigators will conduct focus groups, interviews and surveys with parents, adolescents and healthcare providers to understand the impact and outcomes of genetic testing in children. The researchers will address questions such as what people prefer to receive in genetic sequencing results, what are barriers to informed consent when many findings have uncertain implications, and how parents, patients and clinicians understand and use genomic results. Ultimately, the project scientists will make recommendations on the best ways to introduce genomic sequencing into pediatric practice.

"By the end of this decade, we anticipate that genomic sequencing will be ready to be offered for the diagnosis of pediatric disorders," said Krantz. He added, "Parents may elect to have sequenc
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Contact: John Ascenzi
Ascenzi@email.chop.edu
267-426-6055
Children's Hospital of Philadelphia
Source:Eurekalert

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