33901 - Integrating Genomics into Clinical Practice Jan...

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Integrating Genomics into Clinical  Practice Jan Dorman, PhD University of Pittsburgh School of Nursing jsd@pitt.edu 
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Applications of Genomics to Clinical  Practice Molecular diagnosis $1000 for human genome sequence Prediction of a healthy person’s risk of disease Including cancer, cardiovascular disease, diabetes, etc. Evaluation of responses to drugs and environmental agents  Pharmacogenomics
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Where do clinicians begin? Begin with assessment of family history “Even when an individual’s genome can be displayed on a  personal microchip, interpreting that information will depend  in large part, on the biological and environmental contexts in  which the genome is expressed, and the family milieu is as good  a guide as any.”    Pyeritz RE.  JAMA 278:235. 1997
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Family Health History  Is an important risk factor for chronic diseases that  reflects  Inherited genetic susceptibility Shared environment risk factors (diet) Cultural factors (religious practices) Common behaviors (smoking, physical activity) Prior to offering any genetic susceptibility testing, a  clinician needs to assess the family history of disease Who should be tested? What genes should be tested?
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Family History of Diabetes T2D is an independent risk factor for the disease 88-95% have affected 1 st  degree relatives 70-77% have affected 2 nd  degree relative Individuals with a positive family history are about 2-6 times more  likely to develop T2D than those with a negative family history Risk ~40% if 1 T2D parent; ~80% if 2 T2D parents
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Family History of Diabetes FH identifies a group of high risk individuals Using a simple and inexpensive approach Who may benefit from early detection To develop personal and family-based risk factor modification strategies In the future, may benefit from genetic testing Has been difficult to find genes for T2D Late age at onset Polygenic inheritance Multiple genes with small effects Multifactorial inheritance
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33901 - Integrating Genomics into Clinical Practice Jan...

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