Methods for disease screening

• US 20040259101A1
• Filed: 06/20/2003
• Published: 12/23/2004
• Est. Priority Date: 06/20/2003
• Status: Abandoned Application

• Current Assignee: Exact Sciences Corporation
• Original Assignee: Exact Sciences Corporation
• Inventors: Shuber, Anthony P.
• Application Number:
  US10/601,132
• Publication Number:
  US 20040259101A1
• Time in Patent Office: Days
• US Class Current: 435/6
• CPC Class Codes: C12Q 1/6886 for cancer immunoassay for cancer G01N33/574
• CPC Class Codes: C12Q 2600/156 Polymorphic or mutational markers

Abstract

Methods of the invention generally include measuring a quantitative amount of nucleic acid in a patient sample, and optionally, performing additional disease testing on the patient. Methods of the invention are useful in screening disease in a patient, such as cancer.

Claims

1. A method for screening a patient for the presence of disease, comprising the steps of:

measuring a quantitative amount of nucleic acid in a patient sample comprising shed cells or cellular debris; and

identifying the patient as a candidate for additional disease testing if the amount of nucleic acid is above a predetermined threshold amount.

2. The method of claim 1, wherein the nucleic acid is genomic DNA.

3. The method of claim 1, wherein the measuring comprises determining a number of genome equivalents.

4. The method of claim 1, further comprising the step of performing an assay on a sample from the patient if the patient is identified as a candidate for additional disease testing.

5. The method of claim 4, wherein the assay is selected from the group consisting of a DNA integrity assay, mutation detection, enumerated LOH, expression assays, and FISH.

6. The method of claim 4, wherein the assay detects mutations at a genetic locus selected from the group consisting of p53, ras, APC, DCC, and BAT-26.

7. The method of claim 1, further comprising the step of performing a diagnostic examination on the patient if the patient is identified as a candidate for additional disease testing.

8. The method of claim 7, wherein the step of performing a diagnostic examination is selected from a group consisting of a colonoscopy, a sigmoidoscopy, a fecal occult blood testing and an upper gastrointestinal evaluation.

9. The method of claim 1, wherein the patient sample is stool.

10. The method of claim 1, wherein the patient sample is selected from the group consisting of sputum, pancreatic fluid, bile, lymph, blood, urine, cerebrospinal fluid, seminal fluid, saliva, breast nipple aspirate, and pus.

11. The method of claim 1, wherein the disease is cancer or pre-cancer.

12. The method of claim 11, wherein the cancer is colorectal cancer.

13. The method of claim 11, wherein the cancer is selected from the group consisting of lung cancer, esophageal cancer, prostrate cancer, stomach cancer, pancreatic cancer, liver cancer, and lymphoma.

14. A method for screening a patient for the presence of abnormal proliferating cells, comprising the steps of:

measuring a quantitative amount of nucleic acid in a patient sample comprising shed cells or cellular debris; and

identifying a positive screen as a sample in which the amount of nucleic acid is above a predetermined threshold amount.

15. The method of claim 14, wherein the nucleic acid is genomic DNA.

16. The method of claim 14, wherein the measuring comprises determining a number of genome equivalents.

17. The method of claim 14, further comprising the step of performing an assay on a sample from the patient if a positive screen is identified in the identifying step.

18. The method of claim 17, wherein the assay is selected from the group consisting of a DNA integrity assay, mutation detection, enumerated LOH, expression assays, and FISH.

19. The method of claim 17, wherein the assay detects mutations at a genetic locus selected from the group consisting of p53, ras, APC, DCC, and BAT-26.

20. The method of claim 14, further comprising the step of performing a diagnostic examination on the patient if a positive screen is identified in the identifying step.

21. The method of claim 20, wherein the step of performing a diagnostic examination is selected from a group consisting of a colonoscopy, a sigmoidoscopy, a fecal occult blood testing and an upper gastrointestinal evaluation.

22. The method of claim 14, wherein the patient sample is stool.

23. The method of claim 14, wherein the patient sample is selected from the group consisting of sputum, pancreatic fluid, bile, lymph, blood, urine, cerebrospinal fluid, seminal fluid, saliva, breast nipple aspirate, and pus.

24. A method for diagnosing the state of health of a patient, comprising the steps of:

measuring a quantitative amount of nucleic acid in a patient sample comprising shed cells or cellular debris; and

performing an assay on a sample from the patient if the amount of nucleic acid is above a predetermined threshold amount, wherein the state of health of a patient is determined.

25. The method of claim 24, wherein the nucleic acid is genomic DNA.

26. The method of claim 24, wherein the measuring comprises determining a number of genome equivalents.

27. The method of claim 24, wherein the assay is selected from the group consisting of a DNA integrity assay, mutation detection, enumerated LOH, expression assays, and FISH.

28. The method of claim 24, wherein the assay detects mutations at a genetic locus selected from the group consisting of p53, ras, APC, DCC, and BAT-26.

29. The method of claim 24, wherein the method further comprises performing a diagnostic examination on the patient.

30. The method of claim 29, wherein the diagnostic examination is selected from a group consisting of a colonoscopy, a sigmoidoscopy, a fecal occult blood testing and an upper gastrointestinal evaluation.

31. The method of claim 24, wherein the patient sample is stool.

32. The method of claim 24, wherein the patient sample is selected from the group consisting of sputum, pancreatic fluid, bile, lymph, blood, urine, cerebrospinal fluid, seminal fluid, saliva, breast nipple aspirate, and pus.