IP Library › Granted Patent US 12,354,708
Granted Patent B2
US 12,354,708 · App. 16/906,475 · Granted Jul 8, 2025

Analysis method of analyzing a nucleic acid sequence, and a system that analyzes a nucleic acid sequence

Inventors: Kenichiro Suzuki (Kobe, JP); Reiko Watanabe (Kobe, JP); Mizuho Kawate (Kobe, JP); Kosuke Kai (Kobe, JP); Hiroko Onoe (Kobe, JP)
Assignee: SYSMEX CORPORATION
G16B20/20C12Q1/6869C12Q1/6883C12Q1/6886G06F40/174G16B30/00G16H15/00C12Q2600/118C12Q2600/156
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Quick Facts
Patent No.
US 12,354,708
App. No.
16/906,475
Granted
Jul 8, 2025
Kind
B2
Abstract

An analysis method of analyzing a nucleic acid sequence derived from a patient sample with a computer, may include: obtaining analysis data relating to a mutation determined based on nucleic acid sequence data derived from the patient sample; and generating a first report providing information relating to the determined mutation in a first form which is different from a second form of a second report, wherein the second report provides information relating to a germline mutation among the determined mutation in the second form.

Claims (39)

1. An analysis method of analyzing a nucleic acid sequence derived from a patient sample with a computer, the computer configured with instructions to perform operations comprising:

obtaining from a storage device or a sequencer coupled to the computer, nucleic acid sequence data related to the nucleic acid sequence derived from the patient sample and reference sequence data;

determining a presence of a mutation by:

comparing the obtained nucleic acid sequence data with the reference sequence data;

identifying whether a rate of coincidence between the nucleic acid sequence data and the reference sequence data satisfies a predetermined criteria; and

generating an analysis result based on the comparison;

receiving a selection from among candidate forms each for the same patient associated with the patient sample, the candidate forms comprising a first form and a second form different from the first form, for providing a report of information of the patient and the analysis result based on the determination of the presence of the mutation; and

generating, based on the received selection being the first form, a first report of the analysis result providing information relating to the determined mutation in the first form which is different from the second form, and generating based on the received selection being the second form, a second report of the analysis result providing information relating to the determined mutation in the second form which is different from the first form, wherein

the second report includes the information of the patient and provides information relating to a germline mutation among the determined mutation in the second form, and

the first report includes the information of the patient and does not provide at least part of the information relating to the germline mutation.

2. The analysis method according to claim 1 , wherein the first report provides information relating to the determined mutation in the first form without explicit indication that the determined mutation includes the germline mutation.

3. The analysis method according to claim 1 , wherein the first report provides a mutation position of the determined mutation.

4. The analysis method according to claim 1 , wherein the first report provides a mutation position of the determined mutation without explicit indication that the determined mutation includes the germline mutation.

5. The analysis method according to claim 1 , further comprising receiving account information of a reader of the analysis result of the nucleic acid sequence derived from the patient, wherein

the first report does not provide at least part of the information relating to the germline mutation when the account information indicates that an incidental finding regarding the determined mutation is to be treated as confidential, the incidental finding comprising a nucleic acid sequence mutation other than the determined mutation, which presents in a tumor cell.

6. The analysis method according to claim 1 , wherein the first report further provides information on the patient.

7. The analysis method according to claim 6 , wherein the second report further provides information on the mutation and a gene in which the mutation is detected.

8. The analysis method according to claim 1 , further comprising

generating the second report.

9. The analysis method according to claim 1 , wherein

the receiving the selection comprises receiving prescribed information that indicates a presentation form of the information relating to the germline mutation.

10. A system that analyzes a nucleic acid sequence derived from a patient sample, comprising:

a memory storing instructions; and

a processor in communication with the memory, the processor configured with the instructions to cause the system to perform operations comprising:

obtaining from a storage device or a sequencer coupled to the system, nucleic acid sequence data related to the nucleic acid sequence derived from the patient sample and reference sequence data;

determining a presence of a mutation by comparing the obtained nucleic acid sequence data with the reference sequence data and identifying whether a rate of coincidence between the nucleic acid sequence data and the reference sequence data satisfies a predetermined criteria, and generating an analysis result;

receiving a selection from among candidate forms for the same patient associated with the patient sample, the candidate forms comprising a first form and a second form different from the first form, for providing a report of information of the patient and the analysis result based on the determination of the presence of the mutation; and

generating, based on the received selection being the first form, a first report of the analysis result providing information relating to the determined mutation in the first form which is different from the second form, and generating based on the received selection being the second form, a second report of the analysis result providing information relating to the determined mutation in the second form which is different from the first form, wherein

the second report includes the information of the patient and provides information relating to a germline mutation among the determined mutation in the second form and

the first report includes the information of the patient and does not provide at least part of the information relating to the germline mutation.

11. The system according to claim 10 , wherein the first report provides information relating to the determined mutation in the first form without explicit indication that the determined mutation includes the germline mutation.

12. The system according to claim 10 , wherein the first report provides a mutation position of the determined mutation.

13. The system according to claim 10 , wherein the first report provides a mutation position of the determined mutation without explicit indication that the determined mutation includes the germline mutation.

14. The system according to claim 10 , wherein the processor is configured with the instructions to cause the system to perform operations further comprising receiving account information of a reader of the analysis result of the nucleic acid sequence derived from the patient,

wherein the first report does not provide at least part of the information relating to the germline mutation when the account information indicates that an incidental finding regarding the determined mutation is to be treated as confidential, the incidental finding comprising a nucleic acid sequence mutation other than the determined mutation, which presents in a tumor cell.

15. The system according to claim 10 , wherein the first report further provides information on the patient, and

the second report further provides information on the mutation and a gene in which the mutation is detected.

16. The system according to claim 10 , wherein the processor is configured to cause the system to perform operations further comprising generating the second report.

17. The system according to claim 10 , wherein the receiving the selection comprises receiving prescribed information that indicates a presentation form of the information relating to the germline mutation.

Assignments (1)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Dec 13, 2020
From: SUZUKI, KENICHIRO; WATANABE, REIKO; KAWATE, MIZUHO; KAI, KOSUKE; ONOE, HIROKO
To: SYSMEX CORPORATION
Reel/Frame 054717/0092 →
Priority Claims (1)
JP 2019-114139 · Jun 19, 2019 · national
Continuity (1)
Related Publication 20200402612A1 · Dec 24, 2020
References Cited (47)
US 10902952B2 · Lucas et al. · 2021 [cited by applicant]
US 11527323B2 · Michuda et al. · 2022 [cited by applicant]
US 20030113756A1 · Mertz · 2003 [cited by applicant]
US 20090307181A1 · Colby et al. · 2009 [cited by applicant]
US 20190050530A1 · De La Vega · 2019 [cited by examiner]
US 20210330189A1 · Rose et al. · 2021 [cited by applicant]
CN 107491666A · 2017 [cited by applicant]
JP 2003067506A · 2003 [cited by applicant]
JP 2014044685A · 2014 [cited by applicant]
JP 201589364A · 2015 [cited by applicant]
JP 201837093A · 2018 [cited by applicant]
JP 201838417A · 2018 [cited by applicant]
JP 2018536914A · 2018 [cited by applicant]
WO 2018060485A1 · 2018 [cited by applicant]
WO 2019083024A1 · 2019 [cited by applicant]
An extended European search report (EESR) issued on Nov. 10, 2020 in a counterpart European patent application. [cited by applicant]
An Office Action issued on Dec. 28, 2022 in a related U.S. Appl. No. 16/906,269. [cited by applicant]
Scollon, Sarah et al. “Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.”, Genome medicine 2014, 6:69; Cited in the related USOA issued on Dec. 28,… [cited by applicant]
Robert C. Green et al., “ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing”, Genetics in Medicine, Jun. 20, 2013, pp. 565-574, vol. 15, No. 7, American College of Medical … [cited by applicant]
Jessica N. Everett et al., “Traditional Roles in a Non-Traditional Setting: Genetic Counseling in Precision Oncology”, Journal of Genetic Counseling, Mar. 1, 2014, pp. 655-660, vol. 23, No. 4, Springer, Boston, US, [ret… [cited by applicant]
Mark E. Robson et al., “American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility”, Journal of Clinical Oncology, Aug. 31, 2015, pp. 3660-3667, vol. 33, No. 31,… [cited by applicant]
Lacey A. Smith et al., “Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling”, Journal of Genetic Counseling, Nov.… [cited by applicant]
An extended European search report (EESR) issued on Oct. 28, 2020 in a counterpart European patent application. [cited by applicant]
An Office Action (JPOA) issued on Sep. 29, 2020 in a counterpart Japanese patent application. [cited by applicant]
Kristian Cibulskis et al., “Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples”, Nature Biotechnology, Mar. 2013, pp. 213-219, vol. 31 No. 3, Nature America, Inc.; Cited in the Spe… [cited by applicant]
An Office Action issued on Mar. 30, 2021 in a counterpart Japanese patent application. [cited by applicant]
An extended European search report (EESR) issued on Oct. 28, 2020 in a counterpart European patent application No. 20180717.9. [cited by applicant]
An Office Action (JPOA) issued on Sep. 29, 2020 in a counterpart Japanese patent application No. 2020-104354. [cited by applicant]
An extended European search report (EESR) issued on Nov. 10, 2020 in a counterpart European patent application No. 20180718.7. [cited by applicant]
An Office Action issued on Mar. 30, 2021 in a counterpart Japanese patent application No. 2020-104354. [cited by applicant]
A Chinese Office Action issued on Oct. 21, 2023 in a counterpart Chinese patent application No. 202010559682.5. [cited by applicant]
A Chinese Office Action issued on Oct. 27, 2023 in a counterpart Chinese patent application No. 202010559595.X. [cited by applicant]
An European Office Action issued on Nov. 13, 2023 in a counterpart European patent application No. 20180717.9. [cited by applicant]
An European Office Action issued on Nov. 23, 2023 in a counterpart European patent application No. 20180718.7. [cited by applicant]
A Notice of Panel Decision from Pre-Appeal Brief Review issued on Nov. 20, 2023 in a related U.S. Appl. No. 16/906,269. [cited by applicant]
An Office Action issued on Mar. 14, 2024 in a related U.S. Appl. No. 16/906,269. [cited by applicant]
A Chinese Office Action issued on Oct. 21, 2023 in a counterpart Chinese patent application. [cited by applicant]
An Office Action issued on Jul. 19, 2023 in a related U.S. Appl. No. 16/906,269. [cited by applicant]
Anonymous et al: “ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing”, Genetics in Medicine, vol. 17, No. 1, Jan. 1, 2015 (Jan. 1, 2… [cited by applicant]
Appelbaum Paul S. et al: “Models of Consent to Return of Incidental Findings in Genomic Research”, Hastings Center Report, vol. 44, No. 4, Jun. 11, 2014 (Jun. 11, 2014), pp. 22-32, XP093098253, ISSN: 0093-0334, DOI: 10.… [cited by applicant]
Anonymous: “National Pathology Accreditation Advisory Council Requirements For Human Medical Genome Testing Utilising Massively Parallel Sequencing Technologies”, Apr. 2, 2017 (Apr. 2, 2017), XP093098244, Retrieved from… [cited by applicant]
A Chinese Office Action issued on Oct. 27, 2023 in a counterpart Chinese patent application. [cited by applicant]
An European Office Action issued on Nov. 13, 2023 in a counterpart European patent application. [cited by applicant]
An European Office Action issued on Nov. 23, 2023 in a counterpart European patent application. [cited by applicant]
The Office Action (JPOA) issued on Apr. 23, 2024 in a counterpart Japanese patent application No. 2020-120158, with English translation. [cited by applicant]
The Office Action (CNOA) issued on Sep. 30, 2024 in a counterpart Chinese patent application No. 202010559682.5. [cited by applicant]
The Office Action (CNOA) issued on Oct. 1, 2024 in a counterpart Chinese patent application No. 202010559595.X. [cited by applicant]