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Medical Genetics Ethics Cases




Shoumita Dasgupta



As our understanding of the genetic basis of human disease has grown, genetic testing applications for these conditions have grown in parallel. Discussion of the nuances of these testing strategies in the context of direct-to-consumer genetic testing, identification of incidental findings in genomic strategies, and other ethically complex scenarios is imperative for trainees to fully consider responsible use of genomic technologies.


The case collection was developed for use in a first year Genomic Medicine course for medical students at the Boston University School of Medicine. Although this was initially piloted with medical students, it would be appropriate to use with advanced undergraduate students as well as graduate students with an interest in the clinical applications of the science they are studying.


Genetics Concept(s) Addressed:

How do different types of mutations affect genes and the corresponding mRNAs and proteins?


Core Competencies Addressed:

Students should be able to effectively explain genetics concepts to different audiences.


Intermediate, undergraduate major


Activity Type:

In-Class/Lecture Exercise

Activity Length:

2 hours, but can be split over multiple sessions




genomic medicine, ethics, medical genetics, whole genome sequencing, whole exome sequencing, direct-to-consumer genetic testing, stem cells, regenerative medicine, pharmacogenetics, GINA, precision medicine, incidental finding



Dasgupta, S. (2018). Medical Genetics Ethics Cases. Genetics Society of America Peer-Reviewed Education Portal (GSA PREP); 2018. 001; doi: 10.1534/gsaprep.2018.001




Dasgupta 2017 Facilitators Guide


Dasgupta 2017 Student Handout


Dasgupta 2017 Facilitator Notes


Dasgupta 2017 Resource Justification