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US 2026/0308684 A1Published application
Methods and systems for detecting a primary disease
AssigneeInivata Ltd.
InventorsTim Forshew, Giovanni Marsico
Life of this patent
Estimating the term…
Abstract
Methods and systems disclosed herein relate to detecting a presence or an absence of a second primary disease in a subject. The methods may comprise performing a workflow comprising a minimal residual disease (MRD) assay on a biological sample and using a result of the workflow to detect a presence or absence of a second primary disease in the subject.
Claims33
A method, comprising:
- (a) obtaining nucleic acids from a biological sample obtained from a subject, wherein the subject was determined to have a first cancer prior to obtaining the biological sample, wherein the subject was administered a first cancer treatment comprising a targeted cancer therapy;
- (b) performing a genetic assay and an epigenetic assay on at least a portion of the nucleic acids or a derivative thereof,
- wherein the genetic assay comprises deoxyribonucleic acid (DNA) sequencing or ribonucleic acid (RNA) sequencing that generates genetic assay data, and
- wherein the epigenetic assay comprises a methylation assay, a histone modification assay, or a chromatin accessibility assay that generates epigenetic assay data;
- (c) analyzing (i) the genetic assay data to determine a presence of the first cancer in the subject, and (ii) the epigenetic assay data to determine whether a second cancer is present in the subject, wherein the second cancer is different from the first cancer;
- and
- (d) administering to the subject a second cancer treatment capable of treating the first cancer,
- wherein the second cancer treatment comprises chemotherapy, radiation therapy, surgical resection, or immunotherapy, and wherein the second cancer treatment is different from the first cancer treatment.
5 more elements
-26. (canceled)
A method for determining a cancer profile of a subject, comprising:
- (a) obtaining a biological sample from the subject, wherein the subject was determined to have a first cancer prior to obtaining the biological sample;
- (b) analyzing nucleic acid molecules extracted or derived from the biological sample using (i) a personalized assay to generate a first assay result and (ii) a non-personalized assay to generate a second assay result,
- wherein the personalized assay was developed prior to obtaining the biological sample from the subject,
- wherein a personalized signal detected by the personalized assay and associated with the first cancer was stored in a database prior to obtaining the biological sample;
- and
- (c) determining the cancer profile of the subject comprising a presence or an absence of the first cancer and a second cancer in the subject, based at least in part on:
- (i) determining a presence of the first cancer in the subject and a presence of the second cancer in the subject, when the personalized signal is detected in the first assay result, and a non-personalized signal is detected in the second assay result, wherein the non-personalized signal is associated with the first cancer and the second cancer,
- (ii) determining an absence of the first cancer in the subject and an absence of the second cancer in the subject, when no signal is detected in the first assay result and the second assay result,
- (iii) determining an absence of the first cancer in the subject and a presence of the second cancer in the subject, when the personalized signal is not detected in the first assay result, and a non-personalized signal is detected in the second assay result, wherein the non-personalized signal is associated with the second cancer but not the first cancer,
- (iv) determining a presence of the first cancer in the subject and an absence of the second cancer in the subject, when the personalized signal is detected in the first assay result and the non-personalized signal detected in the second assay result, wherein the non-personalized signal is associated with the first cancer but not the second cancer,
- (v) determining a presence of the first cancer in the subject and a presence of the second cancer in the subject, when the personalized signal is not detected in the first assay result, and a non-personalized signal is detected in the second assay result, wherein the non-personalized signal is associated with the first cancer and the second cancer, or
- (vi) determining a presence of the first cancer in the subject and an absence of the second cancer in the subject, when the personalized signal is not detected in the first assay result and the non-personalized signal detected in the second assay result, wherein the non-personalized signal is associated with the first cancer but not the second cancer.
9 more elements
-30. (canceled)
A method, comprising:
- (a) obtaining nucleic acids from a biological sample obtained from a subject, wherein the subject was determined to have a first cancer prior to obtaining the biological sample, wherein the subject was administered a first cancer treatment comprising a targeted cancer therapy;
- (b) performing a genetic assay and an epigenetic assay on at least a portion of the nucleic acids or a derivative thereof,
- wherein the genetic assay comprises deoxyribonucleic acid (DNA) sequencing or ribonucleic acid (RNA) sequencing that generates genetic assay data, and
- wherein the epigenetic assay comprises a methylation assay, a histone modification assay, or a chromatin accessibility assay that generates epigenetic assay data;
- (c) analyzing (i) the genetic assay data to determine whether the first cancer is present in the subject, and (ii) the epigenetic assay data to determine a presence of a second cancer in the subject, wherein the second cancer is different from the first cancer;
- and
- (d) administering to the subject a second cancer treatment capable of treating the second cancer,
- wherein the second cancer treatment comprises chemotherapy, radiation therapy, surgical resection, or immunotherapy, wherein the second cancer treatment is different from the first cancer treatment.
5 more elements
Dependencies are inferred from the claim text.