Big Data Minimizing False Positives in Consumer DNA Testing

Rehan Ijaz Rehan Ijaz
September 18, 2019 Big Data, Cloud & DevOps

DNA testing is one of the biggest breakthroughs in science over the past century. Both scientists and laymen alike view DNA as an infallible process. However, false positives are a real issue in both forensic and consumer DNA testing. The good news is that big data might help put an end to it.

Breaking the denial over the limits of DNA accuracy

DNA testing has an undeserved reputation for flawlessness. False positives are not unheard within the parameters of the criminal justice system. In one case, a DNA sample from a crime scene matched a child that was too young to have been the perpetrator. Additional evidence and a confession subsequently proved that the child’s uncle was the real offender.

Forensic DNA has gotten the most attention since so many people walk shows like CSI and Forensic Files. However, consumer DNA has become more important in recent years. Consumer DNA testing is performed by companies like 23 and Me. It is used to identify health prognoses without consulting a doctor or identify genealogical information about consumers. 

While DNA has its limitations in the scope of forensics, it is even less perfect with consumer DNA testing. The technology that goes into consumer DNA tests is less sophisticated than that available to law enforcement, which has resulted in a lot of false positives.

How accurate is consumer DNA testing? One study found that 40% of consumer DNA tests included false positives. This is a clear indication that better methodologies are needed.

Fortunately, the best DNA test, big data, and advances in analytics technology are helping improve the accuracy of DNA testing.

Big data is driving significant changes with DNA testing technology

DNA testing is evolving at an incredible pace. Scientists are using big data to develop clearer insights into the human genome and subsequently improve the quality of DNA testing.

Even over the past year, people depending on consumer DNA testing have noticed changes in the reports from 23 and Me and other DNA testing companies. Many customers noticed that these companies change the ethnic composition in their DNA reports. This was because the developers behind the algorithms developed better methodologies for mapping certain genes. They also used more refined DNA analytics algorithms to better identify those genes.

Big Think published an insightful article on the relevance of big data in DNA mapping. They reported that big data is helping isolate genes and identify correlations between millions of individual characteristics. This arena of DNA testing tends to receive the most discussion.

However, another equally important factor is also affected by big data. Hadoop Technology is facilitating the process of collecting data on genetic material. New analytics tools can make observations with far higher levels of precision. These analytics tools do more than merely identify relationships between genes and personal characteristics. They also significantly improve the accuracy of gene identification. As a result, DNA testing will become far more accurate.

Minimizing false positives becomes more essential as the volume of DNA data expands

Big data is playing an important role in reducing false positives in DNA testing. It is also making the reduction of false positives more necessary.

Society is becoming more dependent on DNA data on multiple fronts. Forensic investigators have relied heavily on DNA testing for the past 20 years. However, they are utilizing it even more, since it is easily available in DNA data bases. The case of the Golden State Killer had been cold for nearly 40 years until DNA technology helped identify the alleged offender. One investigator claims to have identified 27 violent criminals in the span of eight months with new troves of DNA data.

The consequences of false positives in these cases would be severe. Investigators have a responsibility of accurately profiling suspects when using such DNA dragnets to avoid the risk of convicting innocent people.

Preventing false positives with consumer DNA testing is also crucial. Millions of people are depending on DNA testing for identifying health risks and potentially identifying heirs to property. The problems associated with false positives in these instances could be just as problematic.

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