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Proprietary Algorithms for Polygenic Risk: Protecting Scientific Innovation or Hiding the Lack of It?

机译:多基因风险的专有算法:保护科学创新还是隐藏它?

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摘要

Direct-to-consumer genetic testing companies aim to predict the risks of complex diseases using proprietary algorithms. Companies keep algorithms as trade secrets for competitive advantage, but a market that thrives on the premise that customers can make their own decisions about genetic testing should respect customer autonomy and informed decision making and maximize opportunities for transparency. The algorithm itself is only one piece of the information that is deemed essential for understanding how prediction algorithms are developed and evaluated. Companies should be encouraged to disclose everything else, including the expected risk distribution of the algorithm when applied in the population, using a benchmark DNA dataset. A standardized presentation of information and risk distributions allows customers to compare test offers and scientists to verify whether the undisclosed algorithms could be valid. A new model of oversight in which stakeholders collaboratively keep a check on the commercial market is needed.
机译:直接面向消费者的基因检测公司旨在使用专有算法来预测复杂疾病的风险。公司将算法作为获取竞争优势的商业秘密,但在以客户可以自行决定基因测试的前提下蓬勃发展的市场应尊重客户的自主权和明智的决策,并最大程度地提高透明度。该算法本身只是被认为对于理解如何开发和评估预测算法必不可少的信息。应鼓励公司使用基准DNA数据集披露其他所有信息,包括算法在人群中应用时的预期风险分布。信息和风险分布的标准化表示使客户可以比较测试报价,科学家可以验证未公开的算法是否有效。需要一种新的监督模型,在这种模型中,利益相关者可以共同检查商业市场。

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