Journal Club 4 - Ethical Considerations

Overview

Our final journal club covers ethical considerations of personal genomics. We'll read the following papers:

• Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing Download Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing
• ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Download ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

The first paper provides a historical overview of how "Direct to consumer" (DTC) testing has evolved, including its interaction with the FDA, over the last decade or so.  In our discussion of this paper, we'll also talk about some case studies of how either false positive results from DTC, or over-interpretation of results, can sometimes go wrong.

The second paper discusses ACMG recommendations for actionable findings from genome sequencing studies. This is in a way looking at the opposite of the issue above: things we maybe should be reporting back to patients or research participants, even if it wasn't what we set out to look for, since they could inform medical decisions. We'll discuss whether reporting "incidental" findings is or is not a good idea. 

For this journal club assignment, since we also have PS4 due this week, please just type below three questions you would like to discuss about the readings.