Context.— Pedigree diagrams efficiently communicate family information to genetics
investigators; however, the publication of pedigrees poses a risk to the privacy
and confidentiality of individuals depicted in the diagrams. Two sets of authoritative
guidelines have been published to protect the privacy and confidentiality
of subjects, but the influence of these guidelines on publication practices
for pedigrees is unknown.
Objective.— To determine the attitudes, practices, and experiences of investigators
and journals with respect to privacy and confidentiality concerns in the publication
Design.— Investigators who have published pedigrees and editors of 26 biomedical
journals were surveyed. Journals were reviewed for content in their "information
for authors" sections and for documentation of informed consent in articles
Outcome Measures.— Practices regarding confidentiality and privacy reported by investigators
Results.— Of 226 surveys sent to investigators, 177 were returned (78% response
rate). Sixty-one investigators (36%) stated that family members were not informed
that their pedigree would be published; 131 (78%) do not obtain informed consent
specifically for pedigree publication and only 12 (28%) of the 43 who obtained
consent obtained consent from all family members depicted. Thirty-two individuals
(19%) reported having altered published pedigrees and 14 (45%) of 31 who had
altered pedigrees stated that alterations were not disclosed to journals.
Of the 14 journals that responded (54% response rate), only 3 reported written
policies for managing potentially identifying information. Two journals reported
having asked authors to alter pedigrees and 3 stated they had permitted alterations.
A review of 5 genetics journals over a 2-year period revealed no documentation
of consent for pedigree publication.
Conclusions.— Current practices in the publication of pedigrees do not conform with
established recommendations and risk the privacy and confidentiality of subjects,
often without informed consent. Attempts to address this problem through the
alteration of data are being used, although this practice impairs the integrity
of scientific communication.