Worrall B B, Chen D T, Meschia J F
Departments of Neurology and Health Evaluation Sciences, University of Virginia, Charlottesville, USA.
Stroke. 2001 Jun;32(6):1242-9. doi: 10.1161/01.str.32.6.1242.
Stroke is a complex genetic disorder with a variable phenotype. Investigations of heritable factors in complex genetic disorders use pedigree and genetic techniques, which pose different ethical and methodological challenges than those routinely encountered in therapeutic research. Building consensus on acceptable research practices in this field is vital to the success of multicentered collaborations.
We review important ethical and methodological concerns related to the collection, storage, and release of pedigree research information. The human studies aspects of pedigree research are complicated methodologically 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 researcher-subject relationship. Privacy and confidentiality for family members must be considered in pedigree research. Investigators should anticipate potential conflicts of interest among family members when designing a pedigree research protocol.
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 situations in which family history data are collected without direct contact between researchers and individuals in the proband's family, an Institutional 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.
中风是一种具有可变表型的复杂遗传疾病。对复杂遗传疾病中遗传因素的研究使用系谱和遗传技术，这些技术带来了与治疗研究中常规遇到的不同的伦理和方法学挑战。就该领域可接受的研究实践达成共识对于多中心合作的成功至关重要。
我们回顾了与系谱研究信息的收集、存储和发布相关的重要伦理和方法学问题。系谱研究的人体研究方面在方法上很复杂，因为个体可以是主动或被动参与者，并且系谱可以是先证者衍生的、部分验证的或完全验证的。当前的研究伦理框架在二元研究者 - 受试者关系之外效果不佳。在系谱研究中必须考虑家庭成员的隐私和保密问题。研究人员在设计系谱研究方案时应预见到家庭成员之间潜在的利益冲突。
我们提出一种“先证者发起接触”的方法，其中先证者或先证者指定的人允许识别潜在家庭，而不会侵犯家庭中个人的隐私。在未在研究人员与先证者家庭中的个人之间进行直接接触的情况下收集家族史数据的情形中，机构审查委员会在对方案进行适当审查并应用给予同意豁免的规则后，可豁免家庭成员的同意。应考虑保密证书。
