The Prevalence of Genetic Counseling and Testing Among Children with Autism Spectrum Disorder in a Medical Home Clinic • URLEND Mentors: Paul Carbone, M.D. Terisa Gabrielsen, Ph.D. Deborah Bilder, M.D. • Team Members: Kristina Cottle, B.A. Shelley Woeste, DPT • April 10, 2015
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The Prevalence of Genetic Counseling and Testing Among Children with Autism Spectrum Disorder in a Medical Home Clinic URLEND Mentors: Paul Carbone, M.D.
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The Prevalence of Genetic Counseling and Testing Among Children with Autism Spectrum Disorder in a
• Team Members: Kristina Cottle, B.A. Shelley Woeste, DPT
• April 10, 2015
Leadership Project Purpose
To evaluate the role of genetic counseling and testing in a population of individuals enrolled in a medical home program that specializes in the care of children with developmental disorders.
Research Questions
1. Was genetic counseling discussed with the individual and family?
2. Was genetic testing completed with the individual?
3. What results were determined by the genetic testing?
4. Did the results affect future medical management of the individual?
Current Genetic Recommendations
(Feero & Guttmacher, 2012)
Genetic Tests used with Autism Spectrum Disorders
Genetic Tests & Recommendations for Autism Spectrum Disorders
Current Practice Recommendation: Chromosomal microarray (CMA) is a first-tier clinical diagnostic test for individuals with autism spectrum disorders.
Leadership Project Procedure and Methods
Project Planning and Team Charter September and October
CITI Training and Literature Search November
Determination of Data Variables November & December
Epic Training, Medical Chart Review and Data Collection January, February, & March