创新背景

区块链是一种利用块链式数据结构验证与存储数据的数字技术，允许安全和分散的交易记录，广泛运用于从加密货币到艺术品的所有事情。耶鲁大学的研究人员根据区块链的特点和作用，结合生物医学、信息学，发现了区块链的新用途。

创新过程

许多寻求遗传血缘或有关医疗风险的信息的人将自己的遗传信息提供给私营商业公司，在不知不觉中，这些信息的使用或商业利用已经不由信息主人控制。耶鲁大学的研究人员根据遗传信息的泄露问题，结合区块链技术，开发出一种名为SAMchain的新技术，让个人可以控制自己的基因组，相关研究成果于6月29日发表在《基因组生物学》杂志上。

不同个体的基因组中有99.9%的基因是相同的，剩下0.1%的差异决定了每个人的与众不同，这些数据对我们个人来说是至关重要的。SAMchain将基因组数据的所有权交还给个人，确保个体基因组信息的安全，让个人能够控制自己的基因组信息。由于区块链不可更改的属性，信息一旦存储在其中就无法更改。存储在云上的许多基因组信息转移到计算机网络上，新技术可以防止存储在云上的DNA数据偶尔损坏，保证数据完整性。
区块链存储基因组有助于个性化医疗发展。比如，患者可以将自己基因组信息通过直接访问给予医生，医生使用这些信息进行详细的诊断治疗，完善个性化医疗。并且可以允许医学研究人员使用自己的基因组信息作为调查资料，助力相关研究进行。

但目前区块链技术用于医疗目的存在一个障碍，即DNA中涵盖的巨大数据量。在金融交易中使用区块链只需要使用存储有限数据的比特币来进行交易，但来自人体的染色体测序相关数据可能包含数百万个DNA短片段。研究比较个体DNA和标准参考基因组，只存储区块链链接块中的差异，然后反过来用特殊方式索引这些链接块，允许快速查询到差异。
个体基因差异可能与具有已知遗传风险因素的疾病有关，新方法让患者快速知晓自己的患病风险，并有助于指导现有疾病的治疗。基因组数据现在已经成为了解人类健康和疾病不可或缺的一部分，新技术在满足信息存储和分析需求时，充分考虑安全性和完整性问题，将帮助未来的患者护理和研究完整性。

研究人员表示，研究将进一步扩展SAMchain技术存储基因表达谱信息的能力，作为开源提供在个人允许的情况下将基因组数据免费提供给相关研究团队。

创新关键点

结合区块链技术和基因组数据，将区块链有效利用在遗传信息存储使用上，保护遗传信息的个人所有权和安全完整性。

Using blockchain technology to store protected genomic information

Many people seeking information about genetic ancestry or medical risks provide their genetic information to private commercial companies, unknowingly, the use or commercial exploitation of this information is no longer under the control of the information owner. Based on the leakage of genetic information, researchers at Yale University have developed a new technology called SAMchain, which allows individuals to control their own genomes in combination with blockchain technology. The related research results were published in Genome Biology on June 29. Science" magazine.

99.9% of the genes in the genomes of different individuals are the same, and the remaining 0.1% of the difference determines each person's uniqueness. These data are crucial to us as individuals. SAMchain returns the ownership of genomic data to individuals, ensures the security of individual genomic information, and enables individuals to control their own genomic information. Due to the immutable nature of the blockchain, information once stored in it cannot be changed. Much of the genomic information stored on the cloud is transferred to computer networks, and new technologies can prevent accidental corruption of DNA data stored on the cloud and ensure data integrity.

Storing genomes on the blockchain can help in the development of personalized medicine. For example, patients can provide their own genomic information to doctors through direct access, and doctors can use this information to conduct detailed diagnosis and treatment and improve personalized medicine. And it can allow medical researchers to use their own genomic information as survey data to facilitate related research.

But there is currently one obstacle to the use of blockchain technology for medical purposes, namely the huge amount of data contained in DNA. The use of blockchain in financial transactions only requires the use of bitcoins, which store a limited amount of data, for transactions, but data related to chromosomal sequencing from humans may contain millions of short fragments of DNA. The study compares individual DNA to a standard reference genome, stores only the differences in linked blocks of the blockchain, and in turn indexes those linked blocks in a special way, allowing differences to be queried quickly.

Individual genetic differences may be associated with diseases with known genetic risk factors, and the new method allows patients to quickly understand their risk and can help guide treatment for existing diseases. Genomic data has now become an integral part of understanding human health and disease, and new technologies that address information storage and analysis needs with full consideration of security and integrity issues will aid future patient care and research integrity. The researchers say the study will further expand the ability of SAMchain technology to store gene expression profiling information, making genomic data freely available to relevant research teams with the permission of individuals as open source.