Return of Participants’ Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community
, Marcia O’Leary 2, Rae O’Leary 2, Wendy Lawrence 2 and Dara G. Torgerson 3
Round 1
Reviewer 1 Report
The authors describe a logistically and ethically challenging topic. This is presented quite effectively by means of a detailed case example. I commend them for their thoughtful discussion of the topic. If permissible, it would be nice to include links to any information materials used as outreach as supplemental materials.
Author Response
Please see the attachment.
Author Response File: 
Author Response.pdf
Reviewer 2 Report
The whole MS only described the results, which is not attracted to readers. This review recommends the authors present some figures for the results.
Author Response
Please see the attachment.
Author Response File: Author Response.pdf
Reviewer 3 Report
This manuscript presented a case study of Asthma in an American Indian community, which overcome the challenges in participants’ return of results, and was able to notify the 2 participants heterozygous for the one clinically actionable variant identified. This investigation is helpful for community-based clinical study, which is usually limited to return of clinically relevant genetic information to research participants.
Author Response
Please see the attachment.
Author Response File: Author Response.pdf
Reviewer 4 Report
Gist/sumamry: The authors come up with a gist of clinically actionable items on return of participants' incidental findings. They stress the need for terminologies, incidental/primary or secondary findings that are derived from the analyses beyond the scope.
They further setup a study based on CLIA guidelines and find the SNPs using a MEGA-EX microarray with a built-up of 2.3 M variants. It is assumed that the authors could find "incidental" findings from their work.
The work is a need of the hour and they have shown this on Indian registries associated with Asthma.
A pictorial methodology coalescing results will be very nice
What the author smsised was finding and explaining an extremely rare variant: https://www.ncbi.nlm.nih.gov/snp/?term=rs36211715 which they could have detailed whilst calling it as "incidental/pathogenic/extremely rare/pathogenic variants" etc
A line about ethics statement MJST also be mentioned in materials and methods
Scores on a scale of 0-5 with 5 being the best
Language: 4
Novelty: 4
Brevity: 3.5
Scope and relevance: 4
Minor but essential
counter balance could be used as one word
Results ARE pertinent
Author Response
See attached
Author Response File: Author Response.pdf
Round 2
Reviewer 2 Report
No comments.
