Genetic Risk for Recessively Inherited Disease (Duchenne Muscular Dystrophy and Congenital Hearing Loss)

Publication ID Published Volume
9211 August 13, 2012 8


This resource is a Team-based Learning (TBL) module on genetic risk intended for first year medical students. Principles of medical genetics and approaches to risk assessment are applied to two case-based Application Exercises (autosomal recessive and X-linked recessive). Students are required to construct pedigrees, to make Mendelian risk estimates, and to incorporate relevant principles of medical genetics in a decision-making process. The exercise also addresses issues related to medical ethics and genetic counseling.

Team Based Learning is rapidly growing as a teaching methodology in health science education. An advantage of the TBL approach is that it is well aligned with recent trends in medical education, including use of active learning experiences that promote competency development (Parmelee and Hudes 2012). Furthermore, dissemination of TBL has been advanced by a collaborative community of TBL experts and users (, the availability of training resources (Michaelsen et al. 2008), and generous sharing of classroom-validated materials.

This TBL resource was developed for use in the inaugural semester of our revised undergraduate medical curriculum, where it was used to provide first year medical students with an active learning experience to reinforce basic concepts of medical genetics. It was first piloted with a small group of student volunteers in 2010 and then delivered as a required activity for the entire first year class in 2011.

Its effectiveness lies in the group experience of applying basic science knowledge to case-based scenarios. Additionally, the application exercises touch on biomedical ethics and genetic counseling, topics that are difficult to teach in a traditional classroom setting. Excellent student engagement was observed throughout the exercise. Mean scores on the Readiness Assessment Test were 72.1% (standard deviation 18.5) on the individual RAT and 98.7% (standard deviation 2.2) on the team RAT. By the conclusion of the module, students improved their problem-solving skills in assessing genetic risk for X-linked recessive and autosomal recessive diseases. They gained experience in applying principles of medical genetics, including mutation-selection balance and allelic heterogeneity, to specific pedigrees. They had an opportunity to explore issues relevant to genetic counseling for future disease risk in a family.

Michaelsen, L. K., D. X. Parmelee, K. K. McMahon & R. E. Levine. 2008. Team-Based learning for Health Professions Education: A Guide to Using Small Groups for Improving Learning. Sterling, VA: Stylus.

Parmelee, D. X. & P. Hudes, 2012. Team-based learning: A relevant strategy in health professionals' education. Med Teach, 34, 411-3.


Park V, Brescia W, Nishimoto S, et al. Genetic risk for recessively inherited disease (Duchenne muscular dystrophy and congenital hearing loss). MedEdPORTAL Publications. 2012;8:9211.

Contains time-sensitive information that will likely be inaccurate, obsolete, or irrelevant by May 09, 2015

Educational Objectives

  1. Given a written family history, be able to construct the pedigree and to apply principles of Mendelian genetics (autosomal recessive and X-linked) to assess carrier risk.
  2. Interpret current, evidence-based information about disease-causing genetic mutations and apply the information to risk assessment in a family.
  3. Apply principles of medical genetics, including mutation-selection balance, locus heterogeneity, and allelic heterogeneity, to assess disease risk for a given clinical scenario.
  4. Use principles of nondirective genetic counseling to evaluate ethical, legal, and family issues in order to formulate a clinical judgment that is evidence-based and ethically sound.


  • X-Linked Recessive, Muscular Dystrophy, Duchenne, Autosomal Recessive, Congenital Hearing Loss, DFNB1 Locus, Connexins, Recurrence Risk, TBL, Team-Based Learning

Prior Scholarly Dissemination

An excerpt from the module was used as an example within reports describing our implementation of TBL.


  • Brescia WF, Park VM, Nishimoto SK, Chesney RW, Ward JC, Pivnick EK, 2012. TBL implementation in undergraduate medical education: genetic risk as an example application. 11th Annual Team Based Learning Collaborative Meeting. St Petersburg, FL, March 1, 2012. Accessed March 26, 2012 at:
  • Park VM, Brescia WF, Nishimoto SK, Ward JC, Pivnick EK, Chesney RC, 2012 Team Based Learning: active, inquiry-based learning in a revised curriculum. Best Practices in Medical Education, Regional Conference of the Southern Group on Educational Affairs (SGEA). Lexington, KY, April 19-21, 2012.

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