Methods and apparatus for sample tracking

Abstract

A method and apparatus are provided for identifying a biological sample obtained during either paternity screening, genetic screening, prenatal diagnosis, presymptomatic diagnosis, diagnosis to detect the presence of a target microorganism carrier detection analysis, forensic chemical analysis, or diagnosis of a subject to determine whether a subject is afflicted with a particular disease or disorder, or is at risk of developing a particular disorder, wherein the result obtained from the analysis is associated with the unique DNA fingerprint biological barcode of the genotype of the subject being analyzed. The methods and apparatus of the invention have application in the fields of diagnostic medicine, disease diagnosis in animals and plants, identification of genetically inherited diseases in humans, family relationship analysis, forensic analysis, and microbial typing.

Description

1. INTRODUCTION[0001] The present invention relates generally to the emerging field of human, animal or plant DNA fingerprinting. The methods and apparatus of the invention have application in the fields of diagnostic medicine, disease diagnosis in animals and plants, identification of genetically inherited diseases in humans, family relationship analysis, forensic analysis, and microbial typing. In a preferred embodiment, the invention relates to methods and apparatus for the simultaneous analysis and tracking of biological samples.2. BACKGROUND OF THE INVENTION[0002] It is known that there are simple nucleotide sequences in the human genome that can occur in different numbers of repeats in different individuals, giving rise to a range of different alleles or variants of different length that can be used as genetic markers to typify the DNA of an individual. It is these genetic markers that DNA diagnostic laboratories use in molecular diagnostics procedures for the identification a...

AI Technical Summary

Benefits of technology

[0012] The present invention relates to methods and an apparatus for providing identification of biological samples used in diagnostic laboratories. In particular, the invention relates to methods and an apparatus for analyzing a biological sample to detect the presence of an infectious agent or disease condition and / or disease predisposition and determining the unique molecular barcode of the sample so as to uniquely identify the biological sample, thereby greatly reducing the chance of errors associated with misidentification of the biological sample or a patient record associated with the molecular barcode. In a preferred embodiment, the unique molecular barcode of the sample is determined simultaneously with the detection of the presence of an infectious agent or disease condition and / or disease predisposition. It is the particular unique combination of genetic markers associated with each individual that provides the biological sample with its unique identification and is termed its molecular barcode. The combination of amplified markers (and hence the molecular barcode) is preferably unique to the extent that the chance of another mammal exhibiting an indistinguishable combination of amplified markers is less than 1 in 10,000, for example, less than 1 in 100,000, for example, less than 1 in 1,000,000. The chance that a given population of mammals will include at least two individuals having an indistinguishable combination of amplified markers may be determined using the Hardy-Weinberg principle.

Problems solved by technology

It is often very difficult to extract such large amounts of DNA from many forensic samples such as blood and semen stains.

Thus, while molecular diagnostics procedures, which rely on the use of such markers as, inter alia, STRs and VNTRs, are particularly well-suited to the application of prenatal diagnosis, presymptomatic diagnosis, carrier detection, and genetic screening, there still remain major bottlenecks in molecular diagnostic laboratories including front-end tasks such as sample purification and reaction setup.

However, the large numbers of samples involved often presents significant problems with sample tracking and data exchange between different laboratory instruments and information management systems.

While the use of computer-based barcodes can provide a high level of sample tracking, such barcode labels still suffer from some significant drawbacks.

For example, they are susceptible to manipulation, they typically involve an additional step, they can be lost, and barcodes are not unique to the individual, etc.

In addition, the time and technical constraints associated with most sample preparation protocols have heretofore impeded the rapid, cost-effective, reproducible, systematic and unequivocal identification of biological samples.

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