Pedigree parables

Pedigrees are a foundation of genetic counseling and human genetic research . To protect patient/subject and family privacy and confidentiality it is n ot unusual to find published pedigrees that have been masked (i.e. a pedigr ee that has been changed in ways that are obvious to the reader such as dia monds to mask gender) or altered (i.e. changing pedigree information in way s that are not obvious to the reader such as changing gender and birth orde r or deleting unaffected siblings from the pedigree). failure to report ped igree data (e.g. omitting ages, ethnicity, etc.) is another measure used to protect subject and family confidentiality. At what point do such practice s hinder the recognition of genetic processes? Is there evidence that harm has occurred to subjects who have appeared in published pedigrees? How does the researcher or clinician determine which information is essential to re cord on the pedigree? The author uses a historical perspective and case exa mples to illustrate the issues of balancing protection of the genetic subje ct's privacy with the reporting of unaltered family data. The author presen ts several critical questions for peer reviewers and investigators to consi der when a pedigree is included in a manuscript, or for researchers involve d in family studies.