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AUCD - Pre-Conference Workshop 7:
Essential Clinical Genetics for LEND and UCEDD Programs

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Sunday, December 2, 2012 12:30 PM - 3:00 PM

Location: Columbia 2

Session Description

Workshop Overview

Our knowledge of the genetic basis for disease has expanded exponentially in the last few decades, and in the future these discoveries will guide the evaluation and treatment of patients and their families. Therefore, competency in basic clinical genetics is essential for all healthcare professionals and should be integrated into LEND and UCEDD educational experiences. In this workshop a team-based learning format will be used to provide the knowledge, skills, and attitudes that will help participants integrate genetics into the care that they provide to individuals with neurodevelopmental disabilities.

To enhance the learning experience, participants will be sent materials to study prior to the workshop. At the beginning of the workshop learners will individually complete a short multiple-choice questionnaire to determine their baseline understanding of clinical genetics based on the preparation materials. They will then work in interprofessional teams to answer the questions again. This phase of the workshop will conclude as genetics experts lead a large group discussion of the questionnaire.

During the second portion of the workshop the interprofessional teams will learn genetics in the context of a series of clinical scenarios, including newborn screening, Noonan syndrome, and genetic testing for autism and other developmental concerns. In addition to small group activities, throughout the workshop genetics experts will intersperse brief presentations and facilitate large group discussions in order to reinforce the learning objectives and to address participant questions.

Through the use of active learning strategies and contextualized learning through case-based discussions, participants will learn the genetic concepts and principles that will help them provide better care to individuals with neurodevelopmental disabilities and their families. Participants will also have an opportunity to discuss how content from the workshop could be incorporated into their local LEND or UCEDD program.

Targeted Learners

This workshop is intended for all health care professionals or students who provide care to individuals with neurodevelopmental disabilities, including physicians, nurses, nurse practitioners, therapists, audiologists, dentists, dieticians, social workers, and educators.

Learning Objectives

At the completion of this workshop, participants will be able to

  1. Apply basic human genetic and genomic concepts and principles to clinical scenarios.
  2. Discuss the interaction of genetic, environmental, and behavioral factors in predisposition and onset of developmental disabilities, response to treatment, and maintenance of health.
  3. Identify the features of the medical and family history, physical examination, and laboratory results that should prompt consideration for referral to a genetics professional, including a geneticist, genetic counselor, or metabolic dietician.
  4. Become familiar with online resources that LEND and UCEDD faculty and trainees should be aware of as they provide care to individuals with genetic conditions, including GeneReviews, OMIM, MedEdPortal and the NCHPEG website.
  5. Use a family-centered approach to discuss the benefits, potential risks, and limitations of genetic testing for individuals and their family members
  6. Discuss the ethical, legal, social, and public policy issues related to genetic testing and recording of genetic information, such as confidentiality, privacy, and the potential for genetic discrimination in health insurance and employment.
  7. Discuss the various factors that influence the client's ability to use genetic information and services, including ethnicity, culture, related health beliefs, ability to pay, health literacy, and other aspects of life course.
  8. Discuss ways that the workshop content could be incorporated into their local LEND and UCEDD programs

Pre-Workshop Materials

All workshop attendees are asked to review the following materials before the pre-conference workshop:

View these Webinars or Review these Slides:


1. Myths of Primary Care Providers and Patients/Families Regarding Genetics-Setting the Record Straight (Time Out for Genetics Webinar Series - American Academy of Pediatrics

2. Top 10 Genetics Resources for Pediatric Primary Care Providers (Time Out for Genetics Webinar Series - American Academy of Pediatrics)

3. Southeast Regional Consortium and AUCD Presents! Genetic Factors Contributing to Disability (AUCD Webinar Library)

Review these Documents:

Featured Presenter(s)


  • Tyler Reimschisel, MD; Vanderbilt LEND, Nashville, TN
  • Robert W. Marion, MD; Rose F. Kennedy Center, Bronx, NY
  • Karen Edwards, MD, MPH; University of Cincinnati and Cincinnati Children's Hospital Medical Center, Cincinnati, OH
  • John Moeschler, MD; New Hampshire LEND, Lebanon, NH
  • Joann Bodurtha, MD; McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD