Method for analyzing and displaying genetic information between family members

• US 10,790,041 B2
• Filed: 02/09/2017
• Issued: 09/29/2020
• Est. Priority Date: 08/17/2011
• Status: Active Grant

• Current Assignee: 23andme Incorporated (23andMe Holding Co.)
• Original Assignee: 23andme Incorporated (23andMe Holding Co.)
• Inventors: Macpherson, John Michael, Sim, Joanna, Naughton, Brian Thomas, Polcari, Michael
• Primary Examiner(s): Cobanoglu, Dilek B
• Application Number:
  US15/428,968
• Publication Number:
  US 20170329924A1
• Time in Patent Office: 1,328 Days
• Field of Search: 705 2, 707803
• CPC Class Codes: G16B 20/00 ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
• CPC Class Codes: G16B 20/20 Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
• 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: G16B 45/00 ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
• CPC Class Codes: G16B 50/30 Data warehousing; Computing architectures
• CPC Class Codes: G16H 50/30 for calculating health indices; for individual health risk assessment
• CPC Class Codes: G16H 50/70 for mining of medical data, e.g. analysing previous cases of other patients

Abstract

A technique of using collaborative family medical history (CFMH) to estimate disease risk includes establishing CFMH information of a user and a plurality of relatives of the user, the CFMH information including genetic information of at least some of the family members, genetic information of the user, or both. It further includes analyzing the CFMH information, including the genetic information. It further includes determining a potential risk condition of the user and a potential risk condition of at least a family member based on the CFMH information. It also includes outputting the potential risk condition of the user and the potential risk condition of the at least one family member.

Claims

1. A computer-implemented method for determining and graphically displaying a potential risk condition of a user using a user interface for a system comprising a computer and one or more databases comprising phenotype data and/or genetic information, the method comprising:

displaying the user interface on a display device, the user interface comprising;

a list of potential risk conditions; and

a family tree template comprising nodes for a plurality of blood relatives of the user and configured for receiving and displaying collaborative family medical history (CFMH) information of the user and at least one of the plurality of blood relatives of the user, each blood relative being a relative who shares at least one common ancestor with the user, wherein the CFMH information includes phenotype data and/or genetic information of the user and at least one of the plurality of blood relatives of the user;

receiving, from the user via input into a node of the family tree template of the user interface, at least phenotype data for the at least one of the plurality of blood relatives of the user;

receiving, from the user via input into a position of the user interface, an address for electronic invitation to a first blood relative of the plurality of blood relatives of the user to collaborate on the CFMH information;

sending an electronic invitation to the first blood relative to invite the first blood relative to collaborate with the user on the CFMH information;

receiving, from the user via input into a node of the family tree template of the user interface, confirmation or verification that an overlapping node of the family tree template of the user interface and a secondary family tree template of the first blood relative does not have conflicting data;

based upon CFMH information received from the user and/or the first blood relative, annotating, by a processor of the computer, the family tree template to display the CFMH information for the at least one of the plurality of blood relatives of the user;

developing, based at least in part on the CFMH information, a machine learning model trained on information comprising phenotype data and genetic information for determining a potential risk condition of the user and/or the at least one relative of the plurality of relatives of the user;

using the CFMH information, determining the potential risk condition by inputting the CFMH information into the machine learning model trained on information comprising phenotype data and genetic information; and

displaying on the user interface the potential risk condition of the user and/or the potential risk condition of the at least one of the plurality of blood relatives of the user.

2. A computer-implemented method for determining and graphically displaying a potential risk condition of a user using a user interface, the method comprising:

displaying the user interface on a display device, the user interface comprising;

a list of potential risk conditions; and

a family tree template comprising nodes for a plurality of relatives of the user and configured for receiving and displaying collaborative family medical history (CFMH) information of the user and at least one relative of the plurality of relatives of the user, wherein the CFMH information includes phenotype data and/or genetic information of the user and at least one of the plurality of relatives of the user;

receiving, from the user, CFMH information for at least one relative of the plurality of relatives of the user;

receiving from the user an address for electronic invitation to a relative to collaborate on the CFMH information;

based upon CFMH information received from the user and/or the at least one relative of the plurality of relatives, annotating, by a processor of the computer, the family tree template to display the CFMH information for the at least one relative of the plurality of relatives of the user;

developing, based at least in part on the CFMH information, a machine learning model trained on information comprising phenotype data and genetic information for determining a potential risk condition of the user and/or the at least one relative of the plurality of relatives of the user;

using the CFMH, determining the potential risk condition by inputting the CFMH information into the machine learning model trained on information comprising phenotype data and genetic information; and

displaying on the user interface the potential risk condition of the user and/or the potential risk condition of the at least one of the plurality of relatives of the user.

3. The method of claim 2, wherein the CFMH information is stored in one or more databases.

4. The method of claim 2, wherein the CFMH information includes a disease condition of at least one of the plurality of relatives.

5. The method of claim 2, wherein the CFMH information includes genetic information of at least one of the plurality of relatives.

6. The method of claim 2, wherein the CFMH information includes information associated with drug side-effects.

7. The method of claim 2, wherein the genetic information includes genotype information.

8. The method of claim 2, wherein the genetic information includes genetic sequence information and inference based on the genetic sequence information and Identical by Descent (IBD) regions shared by the user and at least one of the plurality of relatives.

9. The method of claim 2, wherein the CFMH information includes one or more environmental factors.

10. The method of claim 2, further comprising sending a notification in the event that the potential risk condition meets criteria.

11. The method of claim 10, wherein the criteria comprise the potential risk exceeds a threshold.

12. The method of claim 2, further comprising determining that the user, at least one of the plurality of relatives of the user, or both, meet criteria for a study.

13. The method of claim 2, further comprising comparing the CFMH information of the user with the CFMH information of another family, and determining a condition that is familial but non-genetic.

14. The method of claim 2, wherein presenting to the user the potential risk condition of the user and/or the potential risk condition of the at least one of the plurality of relatives of the user includes annotating or editing the list of potential risk conditions.

15. The method of claim 2, further comprising displaying on the user interface an editable field, dropdown menu, or search box for querying a database.

16. The method of claim 2, further comprising sending a notification of changes made to the CFMH information.

17. The method of claim 2, further comprising displaying on the user interface a reason for the potential risk condition.

18. The method of claim 2, wherein each relative shares at least one common ancestor with the user.

19. The method of claim 2, further comprising receiving, from the user via prompts displayed on the user interface, CFMH information of the user.