Method for providing current assessments of genetic risk

• US 20030040002A1
• Filed: 07/23/2002
• Published: 02/27/2003
• Est. Priority Date: 08/08/2001
• Status: Abandoned Application

• Current Assignee: National Medical Research Council (Government of Singapore), National Biomedical Research Foundation
• Original Assignee: National Biomedical Research Foundation
• Inventors: Ledley, Fred David
• Application Number:
  US10/200,978
• Publication Number:
  US 20030040002A1
• Time in Patent Office: Days
• US Class Current: 435/6
• CPC Class Codes: G16B 40/00 ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
• CPC Class Codes: G16H 10/40 for data related to laboratory analysis, e.g. patient specimen analysis
• CPC Class Codes: G16H 10/60 for patient-specific data, e.g. for electronic patient records
• CPC Class Codes: G16H 50/30 for calculating health indices; for individual health risk assessment

Abstract

This invention concerns an integrated method for providing individuals with current assessments of genetic risk based on genetic tests and genomic research. While existing genetic tests can provide an estimate of genetic risk for many common diseases, genomic research is expected to provide a large number of new genetic tests that will enable more definitive assessments of an individuals risk of disease. The invention provides an integrated method and systems for providing individuals with current assessments of their genetic risk based on such advances. This method has utility in enabling individuals and healthcare professions to use genetic tests in important healthcare and lifestyle decisions.

Claims

1. A method for performing an assessment of genetic risk for an individual concerned about a specific clinical outcome comprising:

obtaining patient consent for genetic testing and assessment of genetic risk for said outcome;

obtaining a DNA sample for DNA testing from said patient;

testing said sample for genes and variations known to be involved in said genetic risk for said outcome;

counseling said patient on test results and assessment of genetic risk;

recording said patient'"'"'s identity, consent record, contact information, clinical concerns, and genetic test results in a secure and private matter.

2. The method according to claim 1, further comprising:

monitoring genomic research for genes and variations that contribute to said clinical outcome; and

notifying said patient concerning newly discovered genes and variations that contribute to said genetic risk.

3. The method according to claim 2, further comprising:

re-testing said DNA sample for newly discovered genes and variations that contribute to genetic risk; and

re-counseling said patient on said test results and current assessment of genetic risk.

4. The method according to claim 1 wherein said method is performed using a system of networked computers comprising software for organization of database information, secure transactions, web browser readable documents and forms, software for searching online documentation regarding genetic research.

5. The method according to claim 2 wherein said method is performed using a system of networked computers comprising software for organization of database information, secure transactions, web browser readable documents and forms, software for searching online documentation regarding genetic research.

6. The method according to claim 3 wherein said method is performed using a system of networked computers comprising software for organization of database information, secure transactions, web browser readable documents and forms, software for searching online documentation regarding genetic research.

7. The method according to claim 4 wherein said steps are performed in an integrated manner.

8. The method, according to claim 5 wherein said steps are performed in an integrated manner.

9. The method according to claim 6 wherein said steps are performed in an integrated manner.

10. The method according to claim 5 wherein said monitoring is performed in a periodic manner.

11. The method according to claim 5 wherein said monitoring is performed in a continuous manner.

12. A method for performing an assessment of genetic risk for an individual concerned about a specific clinical outcome comprising at least two of the steps of:

obtaining patient consent for genetic testing and assessment of genetic risk for said outcome;

obtaining a DNA sample for DNA testing from said patient;

testing said sample for genes and variations known to be involved in said genetic risk for said outcome;

counseling said patient on test results and assessment of genetic risk;

recording said patient'"'"'s identity, consent record, contact information, clinical concerns, and genetic test results in a secure and private matter;

monitoring genomic research for genes and variations that contribute to said clinical outcome;

notifying said patient concerning newly discovered genes and variations that contribute to said genetic risk;

re-testing said DNA sample for newly discovered genes and variations that contribute to genetic risk; and

re-counseling said patient on said test results and current assessment of genetic risk.

13. A method for performing an assessment of genetic risk for an individual concerned about a specific clinical outcome comprising the steps of:

obtaining patient consent for genetic testing and assessment of genetic risk for said outcome;

obtaining a DNA sample for DNA testing from said patient;

testing said sample for genes and variations known to be involved in said genetic risk for said outcome;

counseling said patient on test results and assessment of genetic risk;

recording said patient'"'"'s identity, consent record, contact information, clinical concerns, and genetic test results in a secure and private matter;

monitoring genomic research for genes and variations that contribute to said clinical outcome;

notifying said patient concerning newly discovered genes and variations that contribute to said genetic risk;

re-testing said DNA sample for newly discovered genes and variations that contribute to genetic risk; and

re-counseling said patient on said test results and current assessment of genetic risk, whereby said individual'"'"'s informed consent is obtained.

14. The method according to claim 13 wherein said steps are performed in an integrated manner.

15. The method according to claim 13 wherein said monitoring is performed in a periodic manner.

16. The method according to claim 13 wherein said recording results in a record comprising said patient'"'"'s identity, consent record, contact information, clinical concerns and genetic test results that is maintined in a separate environment or medium.

17. The method according to claim 16 wherein said separate environment or medium comprises a secure web site.

18. A system for providing a current assessment of risk for an individual concerned about a specific clinical outcome comprising:

a record including a patient'"'"'s identity, consent record, contact information, clinical concerns and genetic test results;

a subsystem for monitoring genomic research for genes and variations that contribute to said clinical outcome;

and a subsystem for notifying said patient when the monitoring subsystem identifies new genetic test that may be used for updating said genetic test results.

19. The system according to claim 18 wherein said system comprises a secure web site.