Toward a biopsychosocial model for 21st-century genetics
Toward a biopsychosocial model for 21st-century genetics
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DOI：
10.1111/j.1545-5300.2005.00039.x
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发表时间：
2005-03-01
期刊：
影响因子：
3.9
通讯作者：
Williams, JK
中科院分区：
文献类型：
--
作者：
Rolland, JS;Williams, JK
基因组研究的进展正在越来越多地确定主要健康和精神健康疾病的遗传成分。本文提出了一个家庭系统遗传疾病模型，以解决患者及其家属的基因组疾病的心理社会挑战，并帮助组织临床实践和研究这一复杂的生物心理社会景观。该模型基于关键特征对基因组疾病进行聚类，这些特征定义了随着时间的推移具有类似心理需求模式的疾病类型。关键疾病变量包括基于特定基因突变发展疾病的可能性、总体临床严重程度、生命周期中临床发作的时间以及是否存在有效的治疗干预措施来改变疾病发作和/或进展。对于携带者、预测性或症状前测试可用的疾病，描述了测试前和测试后具有显著发育挑战的核心无症状时间阶段，包括长期适应阶段。FSGI模型建立在Rolland的家庭系统疾病模型的基础上，该模型确定了临床发病后慢性疾病的心理社会类型和阶段。FSGI模型被设计为灵活的，并对基因组研究中的未来发现做出响应。它的效用进行了讨论的研究，预防性筛查，家庭评估，治疗计划，并提供服务，在广泛的医疗环境。
Advances in genomic research are increasingly identifying genetic components in major health and mental health disorders. This article presents a Family System Genetic Illness model to address the psychosocial challenges of genomic conditions for patients and their families, and to help organize this complex biopsychosocial landscape for clinical practice and research. This model clusters genomic disorders based on key characteristics that define types of disorders with similar patterns of psychosocial demands over time. Key disease variables include the likelihood of developing a disorder based on specific genetic mutations, overall clinical severity, timing of clinical onset in the life cycle, and whether effective treatment interventions exist to alter disease onset and/or progression. For disorders in which carrier, predictive, or presymptomatic testing is available, core nonsymptomatic time phases with salient developmental challenges are described pre- and post-testing, including a long-term adaptation phase. The FSGI model builds on Rolland's Family System Illness model, which identifies psychosocial types and phases of chronic disorders after clinical onset. The FSGI model is designed to be flexible and responsive to future discoveries in genomic research. Its utility is discussed for research, preventive screening, family assessment, treatment planning, and service delivery in a wide range of healthcare settings.