Genetic Test Results: Putting Parents and Doctors on the Same Page
Parents of children with rare genetic disorders, and their doctors, need genetic information to guide care decisions. This narrative highlights researchers' efforts to redesign a report for providing information to families and clinicians with the goal to improve communication and shared decision making.
Peer review of PCORI-funded research helps make sure the report presents complete, balanced, and useful information about the research. It also assesses how the project addressed PCORI’s Methodology Standards. During peer review, experts read a draft report of the research and provide comments about the report. These experts may include a scientist focused on the research topic, a specialist in research methods, a patient or caregiver, and a healthcare professional. These reviewers cannot have conflicts of interest with the study.
The peer reviewers point out where the draft report may need revision. For example, they may suggest ways to improve descriptions of the conduct of the study or to clarify the connection between results and conclusions. Sometimes, awardees revise their draft reports twice or more to address all of the reviewers’ comments.
Peer reviewers commented, and the researchers made changes or provided responses. Those comments and responses included the following:
- The reviewers asked for the researchers’ thoughts about potential heterogeneity of treatment effects for the different disability subgroups in the study. The researchers replied that clinical conditions with a common genetic cause are often heterogeneous. Therefore, they chose to treat them as a continuum rather than as discrete subgroups.
- The reviewers commented that the draft final research report did not present enough information about the outcome measures and the quantitative data. The researchers added material on the outcome measures and noted that they focused more on results with qualitative outcomes because the sample size was too low to draw any quantitative conclusions.
- The reviewers noted that the report initially overstated the strength of the study results and suggested revisions. In response, the researchers indicated that the sample size of the study was too small to have sufficient power to determine whether there were any quantifiable differences between groups. Instead, the researchers reported on qualitative data and provided descriptive statistics.
Conflict of Interest Disclosures
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