Portable genetic detection and analysis system and method

Patent metadata

Field	Value
Publication number	US-11634746-B2
Application number	US-201916540769-A
Country	US
Kind code	B2
Filing date	Aug 14, 2019
Priority date	Apr 11, 2012
Publication date	Apr 25, 2023
Grant date	Apr 25, 2023

Abstract

A portable detector is disclosed for detecting certain analytes of interest, such as genetic material (e.g., nucleic acids). The detector includes a reading component for the detection of the analytes, and control circuitry for controlling operation of the reading component. Processing circuitry may be included to perform both primary analysis of acquired data, and where desired, secondary analysis. Where desired, some or all of the computationally intensive tasks may be off-loaded to enhance the portability and speed of the device. The device may incorporate various types of interface, technologies for reading and analysis, positioning system interfaces, and so forth. A number of exemplary use cases and methods are also disclosed.

First claim

The invention claimed is:

1. A portable genetic detector system comprising:
a plurality of portable detectors, wherein each respective portable detector of the plurality of portable detectors comprises:
a housing;
an interface disposed on or in the housing and configured to receive input from an operator to control operation of the respective portable detector;
a sample receiving component configured to receive a biological sample;
a reader configured to detect nucleic acids of interest in the biological sample to generate sample data;
a control system programmed to control the operation of the respective portable detector;
a transceiver configured to output the sample data generated by the reader, wherein the sample data comprises data identifying nucleotides present in the biological sample; and
a display configured to display information related to the operation of the respective portable detector; and

a remote processing system in communication with each of the plurality of portable detectors via a wireless connection and separate from the plurality of portable detectors, wherein the remote processing system comprises:
communications circuitry configured to receive the sample data of the biological sample of each of the plurality of portable detectors, wherein the biological sample of each of the plurality of portable detectors corresponds to a different candidate sample of a plurality of candidate samples; and
a processor programmed to analyze the sample data of a first candidate sample of the plurality of samples from a first portable detector to generate at least one analysis output comprising sequencing assembly data based on the identified nucleotides of the first portable detector of the plurality of portable detectors and cause the communications circuitry to provide one or more instructions, based on the at least one analysis output, wherein the one or more instructions comprise an instruction to change the operation of the control system of a second portable detector that is associated with a second candidate sample of the plurality of portable detectors, and wherein the second portable detector is distinct from the first portable detector.

2. The portable genetic detector system of claim 1 , wherein the at least one analysis output comprises an assembly of the sample data identifying the nucleotides present in the biological sample.

3. The portable genetic detector system of claim 2 , wherein the at least one analysis output comprises an indication that the assembly represents a predetermined sequence coverage for a region of a genome of interest for the first portable detector of the plurality of portable detectors.

4. The portable genetic detector system of claim 3 , wherein the one or more instructions comprise an additional instruction to stop operation of the reader of the biological sample for the first portable detector when the assembly represents the predetermined sequence coverage.

5. The portable genetic detector system of claim 3 , wherein the one or more instructions comprise an additional instruction to stop operation of the reader of each of the portable detectors when the assembly represents the predetermined sequence coverage.

6. The portable genetic detector system of claim 2 , wherein the processor is configured to analyze the sample data from each of the portable detectors to determine that the biological sample of one or more of the plurality of portable detectors matches a signature from a group of predefined signatures.

7. The portable genetic detector system of claim 6 , wherein the one or more instructions comprise a halt instruction that causes the control system to stop operation of the reader of each of the portable detectors when the biological sample of one or more of the portable detectors matches the signature from the group.

8. The portable genetic detector system of claim 2 , wherein the at least one analysis output comprises an indication of data quality for the sample data collected by the reader for each of the portable detectors.

9. The portable genetic detector system of claim 8 , wherein the one or more instructions comprise an additional instruction to stop operation of the reader of the second portable detector when a predetermined data quality score is achieved.

10. The portable genetic detector system of claim 1 , wherein the sequencing assembly data comprises assembly of the identified nucleotides from individual nucleotide sequence segments to generate one or more longer nucleotide sequence segments.

11. The portable genetic detector system of claim 1 , wherein the housing of the respective portable genetic detector is configured to receive a removable interface distinct from the interface or processing device.

12. The portable genetic detector system of claim 1 , wherein the processor analyzing the sample data comprises the processor assembling a sequence of nucleotides based on the identified nucleotides, and wherein the sequencing assembly data is the sequence of nucleotides.

13. The portable genetic detector system of claim 1 , wherein the processor is programmed to determine location data associated with the biological sample corresponding to the first candidate sample and cause the communications circuitry to provide the instructions to change the operation of the control system of the second portable detector based on the location data.

Assignees

• Illumina Inc

Inventors

• Kain Robert C
• Shen Min-Jui Richard
• Moon John A
• Eltoukhy Helmy A

Classifications

• G01N2035/00881

  network configurations · CPC title

• G01N33/48792

  Data management, e.g. communication with processing unit (for in vivo diagnostics A61B5/0002; transmission systems for measured values G08C) · CPC title

• B01L2300/0636

  Integrated biosensor, microarrays · CPC title

• B01L2300/024

  Storing results with means integrated into the container · CPC title

• G01N33/48721

  Investigating individual macromolecules, e.g. by translocation through nanopores (Coulter counters in general G01N15/12; fabrication methods for nanoscale apertures B81B1/00; sequencing of nucleic acids C12Q1/68) · CPC title