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To the Editor.—Dr Botkin and colleagues¹ highlight potential issues of confidentiality in the publication of pedigrees. Unfortunately, in their survey of journal and investigator practices concerning identifying pedigrees, they do not define what constitutes an identifying pedigree. Any pedigree that does not use masking or alteration is potentially identifiable, but the likelihood of such occurrence may vary greatly depending on the presented information. Although they reviewed the pedigrees published by 226 authors, they did not assess whether any of these pedigrees were indeed identifiable using reasonable search effort. It would have been interesting to know what fraction of these pedigrees could be traced to an individual.

The discussion by Botkin et al¹ does not distinguish between patients and nonpatients. Any person in a pedigree who is interviewed, examined, tested, or otherwise engaged with the investigators would in some respect become their patient. This person, in addition to the proband, . . . [Full Text of this Article]

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ABSTRACT | FULL TEXT