Ethical and methodological issues in pedigree stroke research

Background - Stroke is a complex genetic disorder with a variable phenotype , Investigations of heritable factors in complex genetic disorders use pedi gree and genetic techniques, which pose different ethical and methodologica l challenges than those routinely encountered in therapeutic research. Buil ding consensus on acceptable research practices in this field is vital to t he success of multicentered collaborations. Summary of Review - We review important ethical and methodological concerns related to the collection, storage, and release of pedigree research infor mation. The human studies aspects of pedigree research are complicated meth odologically because individuals can be active or passive participants and pedigrees can be proband derived, partially validated, or fully validated. Current research ethics frameworks do not work well outside of a dyadic res earcher-subject relationship. Privacy and confidentiality for family member s must be considered in pedigree research, Investigators should anticipate potential conflicts of interest among family members when designing a pedig ree research protocol. Conclusions - We propose a "proband-initiated contact" methodology in which the proband or the proband's designate allows identification of potential families without breaching the privacy of individuals in the family. In sit uations in which family history data are collected without direct contact b etween researchers and individuals in the proband's family, an Institutiona l Review Board may waive consent by family members after appropriate review of the protocol and application of rules for granting waivers of consent. Certificates of Confidentiality should be considered.