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SOVIE APP: Medical Genetics and Genetic Counseling

Date of Release

Period of Validity

Educational Need

This presentation is an overview of basic concepts of medical genetics and genetic counseling in children.  This includes evaluating a patient to determine if a genetics consult is necessary and what the potential benefits to the family are.  The presentation also reviews standard pedigree symbols, evaluating a family history/pedigree and determining the most appropriate testing option.

Learning Objectives
After viewing this module participants should be able to:

1.  Evaluate a pedigree for a mendelian pattern of inheritance

2.  Identify a child who would benefit from genetic testing and/or a genetic evaluation

A Guide to Genetic Counseling.  Wendy Uhlmann, Jane Schuette, Beverly Yashar 2009 Wiley-Blackwell
Standardized human pedigree nomenclature: update and assessment recommendations of the National Society of Genetic Counselors.  Journal of Genetic Counseling 2008 Oct;17(5):424-33

The University of Rochester School of Medicine & Dentistry is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education (CME) for physicians.

The University of Rochester School of Medicine and Dentistry designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

SCS Disclosure Statement
ACCME Standards of Commercial Support (SCS) of CME require that presentations be free of commercial bias and that any information regarding commercial products/services be based on scientific methods generally accepted by the medical community.  When discussing therapeutic options, faculty are requested to use only generic names.  If they use a trade name, then those of several companies should be used.  If a presentation includes discussion of any unlabeled or investigational use of a commercial product, faculty are required to disclose this to the participants.

Planning Committee and Author/Speaker Declarations
The ACCME Standards of Commercial Support require that presentations be free of commercial bias and that any information regarding commercial products/services be based on scientific methods generally accepted by the medical community. All of the planning committee members (listed here) have declared that they have no financial interests or relationships to disclose:

Carolyn Dickinson, RN, MS, CPNP-BC
Melissa Smith, MS, RN, PNP-BC
Timothy Stevens, MD
Cyndi tenHoopen, RN, MS, CPNP-BC

The following speaker has disclosed financial interests/arrangements or affiliations with organizations that could be perceived as real or apparent conflict of interest in the context of the subject of their presentation.  Only the current arrangements/interests are included:

Kelly Minks, MS has no financial interests or relationships to disclose.

No commercial funds have been received to support this educational activity.

Contact Information
For questions regarding certification or credit reports:
University of Rochester Medical Center
Center for Experiential Learning
Phone: (585) 275-7666

Click Here to Register!

Criteria for successful completion of this activity include:

  • Review the course materials
  • Completion of  the self-assessment / program evaluation*

*The self-assessment / program evaluation must be completed in one sitting.


  • Will be available for download immediately following completion of the program evaluation.
  • Participants must download and save or print certificates before exiting the course.
  • Please remember to send a copy of your certificate to your credentialing office and to keep a copy for your records.

Course Materials

After viewing the PowerPoint in Course Materials:

  1. Click on the Self-Assessment – Program Evaluation link and sign in.
  2. Registration Complete - You have already paid and registered for this event. To continue with your Online Activity, please click the "Continue" button below.
  3. Thank you – Click Here to Begin the Activity and a new window opens to the activity home page.
  4. Use the tab at the top to go back to the Thank You page and the Continue to the Post Test button appears.
  5. Complete the Post Test and Evaluation.

Self Assessment - Program Evaluation