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The Pediatric Forum |

Is Public Health Ready for Genetics? An Unanswered Question—Reply

Michael H. Farrell, MD; Philip M. Farrell, MD, PhD
Arch Pediatr Adolesc Med. 2001;155(10):1175-1176. doi:10.1001/archpedi.155.10.1175.
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We appreciate Dr Cunningham's comments on item 14g in our survey of newborn screening programs1 and are surprised that public discussion has focused on this one question and obscured our central results. To paraphrase from the abstract, we found that counseling services vary greatly, no best practices are currently evident, and quality assurance for counseling is rare.

The purpose of this study was not to describe what counseling occurs or assume that counseling is even implemented by the programs. At the time of the survey, there had been no investigation of procedures used across the country in counseling families. We asked the follow-up coordinators what their perceptions were of the goals of counseling, reasoning "the opinions of our respondents could affect future policies." When pilot-tested, the "unsuitability" question generated similar responses to Dr Cunningham's, eg, that it was both strongly unimportant and an entirely inappropriate goal. We left the item in the instrument because we felt it was useful to have a standard item that would likely elicit a uniformly negative response for comparison. Although we could have omitted the responses to the unsuitability question, we reported these results to provide complete disclosure and allow public commentary on a finding about which we were surprised. Of course we cannot draw conclusions based on a single item, but we still believe that the presence of this response among even a few officials responsible for overseeing follow-up (if not counseling) is grounds for further study.


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