Claims for Patent: 8,417,459

Summary for Patent: 8,417,459

Title:	Methods of selection, reporting and analysis of genetic markers using broad-based genetic profiling applications
Abstract:	Disclosed are a method for determining whether an individual has an enhanced, diminished, or average probability of exhibiting one or more phenotypic attributes and related methods of selecting a set of genetic markers; for providing relevant genetic information to an individual; of evaluating the probability that progeny of two individuals of the opposite sex will exhibit one or more phenotypic attributes; and for determining the genomic ethnicity of an individual.
Inventor(s):	Reese; Martin G. (Oakland, CA), White; Charles (Oakland, CA)
Assignee:	Omicia, Inc. (Emeryville, CA)
Application Number:	10/552,665
Patent Claims:	1. A method for determining an individual's probability of exhibiting one or more phenotypic attributes, comprising: a) evaluating genomic markers from the individual for zygosity at each member of a preselected set of markers; wherein each preselected marker has a degree of linkage with one or more of the one or more phenotypic attributes, wherein zygosity is heterozygosity or homozygosity for each selected marker from the preselected set; b) comparing the zygosity of the preselected markers to a multivariate scoring matrix to obtain a marker score, wherein the multivariate scoring matrix correlates patterns of marker zygosity with probabilities of exhibiting the one or more phenotypic attributes, using suitable computer software for use on a computer; wherein the scoring matrix prioritizes markers with respect to one or more criteria selected from the group consisting of synteny with respect to other marker sequences, ontological relevance, quality of supporting research, and degree of phenotypic significance; and c) determining whether the marker score indicates an enhanced, diminished, or average probability of exhibiting one or more phenotypic attributes. 2. The method according to claim 1, wherein the preselected set of markers comprises a plurality of exon/intron junction sequences. 3. The method according to claim 2, wherein at least about 20% of the markers in the preselected set are exon/intron junction sequences. 4. The method according to claim 1, wherein the preselected set of markers comprises a plurality of promoter sequences. 5. The method according to claim 4, wherein at least about 20% of the markers in the preselected set are promoter sequences. 6. The method according to claim 1, wherein one or more of the markers within the preselected set of markers is selected by prioritizing with respect to one or more criteria selected from the group consisting of nucleotide sequence homology, synteny with respect to other marker sequences, ontological relevance, genomic relevance, quality of supporting research, and degree of phenotypic significance. 7. The method according to claim 1, wherein the preselected set of markers comprises markers that map to at least about 1,000 discrete loci. 8. The method according to claim 1, wherein the scoring matrix prioritizes markers with respect to homology to another marker sequence of interest, synteny with respect to other marker sequences, ontological relevance, genomic relevance, quality of supporting research, and degree of phenotypic significance. 9. The method according to claim 1, wherein the method further comprises determining a genetic profile characteristic of a human population or subpopulation, 10. The method according to claim 9, wherein the method further comprises using the genetic profile characteristic of the human population or subpopulation in a pharmacogenomic analysis. 11. A method for providing genetic information to an individual, comprising: a) identifying genotypic characteristics of the individual that correlate with a relative probability of exhibiting one or more phenotypic attributes; b) determining for each of the one or more phenotypic attributes the probability of exhibiting the one or more phenotypic attributes by: (i) evaluating genomic markers from an individual for zygosity at each member of a preselected set of markers, wherein each preselected marker has a degree of linkage with one or more of the one or more phenotypic attributes, wherein zygosity is heterozygosity or homozygosity for each selected marker from the preselected set; (ii) comparing the zygosity of the preselected markers to a multivariate scoring matrix to obtain a marker score, wherein the multivariate scoring matrix correlates patterns of marker zygosity with probabilities of exhibiting the one or more phenotypic attributes, using suitable computer software for use on a computer; wherein the scoring matrix prioritizes markers with respect to one or more criteria selected from the group consisting of synteny with respect to other marker sequences, ontological relevance, quality of supporting research, and degree of phenotypic significance; and (iii) determining whether the marker score indicates an enhanced, diminished, or average probability of exhibiting the one or more phenotypic attributes; c) applying one or more selection criteria for each of the one or more phenotypic attributes to the resulting determinations of probability, wherein each selection criterion imposes total, partial, or no limitation on the information communicated to the individual; d) identifying information that is relevant to the individual's probabilities of exhibiting the one or more phenotypic attributes and consistent with the limitations imposed by the selection criteria; and e) communicating the information to the individual. 12. The method according to claim 11, further comprising: applying the same or different selection criteria one or more additional times to the determined probabilities of exhibiting each of the phenotypic attributes; identifying information that is relevant to the individual's probabilities of exhibiting the one or more phenotypic attributes and consistent with the limitations imposed by the selection criteria; and communicating the information to the individual. 13. The method according to claim 11, wherein the scoring matrix comprises a combination of one or more scoring matrix vectors selected from the group consisting of a descriptor of family history, a descriptor of general medical physiological values, a descriptor of mRNA expression levels, a descriptor of methylation profiles, a descriptor of protein expression levels, a descriptor of enzyme activity, and a descriptor of antibody load. 14. The method according to claim 11, wherein at least one of the one or more selection criteria is specified in advance by the individual. 15. The method according to claim 14, wherein at least one of the one or more selection criteria is a function of the availability of treatments effective to modify the phenotypic characteristic. 16. The method according to claim 11, wherein at least one of the one or more selection criteria is a function of the scope and quality of known research relating to the phenotypic characteristic. 17. The method according to claim 11, wherein at least one of the one or more selection criteria is a function of the probability determination(s) for one or more other phenotypic attributes. 18. The method according to claim 11, further comprising, prior to communicating the information to the individual: formatting the information relating to the relevant phenotypic attributes according to an organizational matrix, wherein the organizational matrix determines the grouping, and presentation of information to the individual. 19. The method according to claim 18, wherein the organizational matrix groups phenotypic characteristics for which the individual has an enhanced probability together. 20. The method according to claim 18, wherein the organizational matrix groups phenotypic attributes related to similar physiological systems together. 21. The method according to claim 18, wherein the organization matrix ranks the phenotypic attributes as a function of the potential impact on the individual's lifestyle or quality of life. 22. The method according to claim 18, wherein the organization matrix ranks the phenotypic characteristics as a function of the genomic ethnicity of the individual. 23. The method according to claim 11, wherein prior to communicating the information to the individual, the identity of the individual is not associated with data corresponding to the genotypic characteristics, the relative probabilities of exhibiting the phenotypic attributes, or the identified relevant information. 24. The method according to claim 1 or claim 11, wherein the method comprises prioritizing markers with respect to synteny with respect to other marker sequences. 25. The method according to claim 1 or claim 11, wherein the method further comprises prioritizing markers with respect to ontological relevance. 26. The method according to claim 1 or claim 11, wherein the method comprises prioritizing markers with respect to genomic relevance. 27. The method according to claim 1 or claim 11, wherein the method comprises prioritizing markers with respect to quality of supporting research. 28. The method according to claim 1 or claim 11, wherein the method comprises prioritizing markers with respect to degree of phenotypic significance.

Details for Patent 8,417,459

Applicant	Tradename	Biologic Ingredient	Dosage Form	BLA	Approval Date	Patent No.	Expiredate
Merck Sharp & Dohme Corp.	INTRON A	interferon alfa-2b	For Injection	103132	06/04/1986		2023-04-09
Merck Sharp & Dohme Corp.	INTRON A	interferon alfa-2b	For Injection	103132			2023-04-09
Merck Sharp & Dohme Corp.	INTRON A	interferon alfa-2b	Injection	103132			2023-04-09