Division of Psychiatry, University College London, London, UK.
Department of Statistical Science, University College London, London, UK.
Nature. 2024 Oct;634(8035):795-803. doi: 10.1038/s41586-024-07721-5. Epub 2024 Oct 23.
Biobanks aim to improve our understanding of health and disease by collecting and analysing diverse biological and phenotypic information in large samples. So far, biobanks have largely pursued a population-based sampling strategy, where the individual is the unit of sampling, and familial relatedness occurs sporadically and by chance. This strategy has been remarkably efficient and successful, leading to thousands of scientific discoveries across multiple research domains, and plans for the next wave of biobanks are underway. In this Perspective, we discuss the strengths and limitations of a complementary sampling strategy for future biobanks based on oversampling of close genetic relatives. Such family-based samples facilitate research that clarifies causal relationships between putative risk factors and outcomes, particularly in estimates of genetic effects, because they enable analyses that reduce or eliminate confounding due to familial and demographic factors. Family-based biobank samples would also shed new light on fundamental questions across multiple fields that are often difficult to explore in population-based samples. Despite the potential for higher costs and greater analytical complexity, the many advantages of family-based samples should often outweigh their potential challenges.
生物银行旨在通过收集和分析大量样本中的各种生物和表型信息，来增进我们对健康和疾病的理解。到目前为止，生物银行主要采用基于人群的抽样策略，即个体是抽样的单位，家族相关性是偶然发生的。这种策略非常有效和成功，在多个研究领域促成了数千项科学发现，并且正在计划下一波生物银行。在本观点中，我们讨论了基于近亲过度抽样的未来生物银行的补充抽样策略的优势和局限性。这种基于家族的样本有助于澄清假定风险因素与结果之间的因果关系的研究，特别是在遗传效应的估计中，因为它们能够进行分析，减少或消除由于家族和人口统计学因素引起的混杂。基于家族的生物银行样本也将为多个领域的基本问题提供新的线索，这些问题通常很难在基于人群的样本中进行探索。尽管存在成本更高和分析更复杂的潜在风险，但基于家族的样本的许多优势通常应该超过其潜在挑战。
