Department of Forensic Medicine, University of Helsinki, Helsinki, Finland.
Radford University Forensic Science Institute, Radford University, Radford, VA, USA.
Int J Legal Med. 2023 Sep;137(5):1595-1614. doi: 10.1007/s00414-023-03029-7. Epub 2023 Jun 21.
Next-generation sequencing (NGS), also known as massively sequencing, enables large dense SNP panel analyses which generate the genetic component of forensic investigative genetic genealogy (FIGG). While the costs of implementing large SNP panel analyses into the laboratory system may seem high and daunting, the benefits of the technology may more than justify the investment. To determine if an infrastructural investment in public laboratories and using large SNP panel analyses would reap substantial benefits to society, a cost-benefit analysis (CBA) was performed. This CBA applied the logic that an increase of DNA profile uploads to a DNA database due to a sheer increase in number of markers and a greater sensitivity of detection afforded with NGS and a higher hit/association rate due to large SNP/kinship resolution and genealogy will increase investigative leads, will be more effective for identifying recidivists which in turn reduces future victims of crime, and will bring greater safety and security to communities. Analyses were performed for worst case/best case scenarios as well as by simulation sampling the range spaces with multiple input values simultaneously to generate best estimate summary statistics. This study shows that the benefits, both tangible and intangible, over the lifetime of an advanced database system would be huge and can be projected to be for less than $1 billion per year (over a 10-year period) investment can reap on average > $4.8 billion in tangible and intangible cost-benefits per year. More importantly, on average > 50,000 individuals need not become victims if FIGG were employed, assuming investigative associations generated were acted upon. The benefit to society is immense making the laboratory investment a nominal cost. The benefits likely are underestimated herein. There is latitude in the estimated costs, and even if they were doubled or tripled, there would still be substantial benefits gained with a FIGG-based approach. While the data used in this CBA are US centric (primarily because data were readily accessible), the model is generalizable and could be used by other jurisdictions to perform relevant and representative CBAs.
下一代测序(NGS),也称为大规模测序,能够进行大型密集 SNP 面板分析,从而产生法医调查遗传谱系学(FIGG)的遗传成分。虽然将大型 SNP 面板分析引入实验室系统的成本似乎很高且令人生畏,但该技术的好处可能超过投资。为了确定在公共实验室进行基础设施投资并使用大型 SNP 面板分析是否会给社会带来实质性收益,进行了成本效益分析(CBA)。该 CBA 应用了以下逻辑:由于标记数量的增加以及 NGS 提供的更高检测灵敏度和由于大型 SNP/亲属关系分辨率和谱系学而导致的更高命中/关联率,DNA 数据库中 DNA 图谱的上传量会增加,这将增加调查线索,对于识别惯犯将更加有效,从而减少犯罪的未来受害者,并为社区带来更大的安全保障。分析了最坏情况/最好情况的情况,以及通过模拟同时对多个输入值的范围空间进行采样,以生成最佳估计汇总统计信息。本研究表明,在先进的数据库系统的生命周期中,有形和无形的收益将是巨大的,预计每年投资不到 10 亿美元(10 年内),每年可获得有形和无形的成本效益超过 48 亿美元。更重要的是,如果采用 FIGG,平均每年有超过 50000 人不需要成为受害者,假设调查关联得到了处理。对社会的好处是巨大的,使实验室投资成为微不足道的成本。这里的收益很可能被低估了。估计成本有一定的余地,即使成本增加一倍或三倍,采用基于 FIGG 的方法仍会获得可观的收益。虽然 CBA 中使用的数据是美国为中心的(主要是因为数据易于获取),但该模型具有通用性,可以由其他司法管辖区用于执行相关和有代表性的 CBA。