DETAILED ACTION
Notice of Pre-AIA or AIA Status
The present application, filed on or after March 16, 2013, is being examined under the first inventor to file provisions of the AIA .
Claim Status
Claims 1-30 are pending.
Claims 6, 7, and 20-30 are withdrawn.
Claims 1-5 and 8-19 are examined.
Claims 1 and 16 are independent.
Claims 6-7 and 15 are objected to.
No claims are canceled or new.
Office Action Outline
Rejections applied
Abbreviations
x
112/b Indefiniteness
PHOSITA
"a Person Having Ordinary Skill In The Art before the effective filing date of the claimed invention"
112/b "Means for"
BRI
Broadest Reasonable Interpretation
112/a Enablement,
Written description
CRM
"Computer-Readable Media" and equivalent language
112 Other
IDS
Information Disclosure Statement
X
102, 103
JE
Judicial Exception
X
101 JE(s)
112/a
35 USC 112(a) and similarly for 112/b, etc.
101 Other
N:N
page:line
Double Patenting
MM/DD/YYYY
date format
Priority
As detailed in the 06/16/2022 filing receipt, this application is a 371 of PCT/US2020/041725 filed 07/10/2020, which claims priority to provisional application 62/873,802, filed 07/12/2019.
Election/Restrictions
Applicant’s election without traverse of the following Group and Species in the reply filed on 12/22/2025 is acknowledged:
• Group I: Claims 1-19
• Species A-1: Claim 5
Claims 6, 7, and 20-30 are withdrawn from further consideration pursuant to 37 CFR 1.142(b) as being drawn to a nonelected invention group (claims 20-30) and to nonelected species (claims 6 and 7). Election was made without traverse in the reply filed on 12/22/2025.
Claim Objections
Withdrawn claims 6 and 7 are objected to because they were not elected in the Species Election requirement, as Applicant elected Species A-1 (claim 5). However, claims 6 and 7 recite the incorrect claim status identifier "(Original);" this should be corrected to "(Withdrawn)."
Claim 15 is objected to as reciting "...the hereditary diseases or traits comprises one of..." in which the subject-verb agreement is incorrect.
Appropriate correction is required.
Claim Rejections - 35 USC § 112(b)
The following is a quotation of 35 USC § 112(b):
(b) CONCLUSION. The specification shall conclude with one or more claims particularly pointing out and distinctly claiming the subject matter which the inventor or a joint inventor regards as the invention.
Claims 1-5 and 8-19 are rejected under 35 USC § 112(b), as indefinite for failing to particularly point out and distinctly claim the subject matter which applicant regards as the invention. Claims depending from rejected claims are rejected similarly, unless otherwise noted, and any amendments in response to the following rejections should be applied throughout the claims, as appropriate.
Claim 1 recites past-tense process steps not clearly comprised or required by the instantly recited "method." It is unclear whether a product-by-process (PbP) interpretation applies, and it is unclear to what extent the claim is limited by the recitations. In the second "receiving" step, the claim recites "...wherein an analytical model identified the risk feature when the analytical model was being trained using..." It is unclear whether (a) the recited "identified" and "was being trained" are required steps of the instantly claimed "method," possibly steps preceding the recited "receiving...," etc. steps, or (b) the recited "analytical model identified the risk feature" and "the analytical model was being trained using..." are PbP elements, i.e. the product of "the analytical model" having been "trained using..." and the product of "the risk feature" having been "identified" by "an analytical model."
If (a), then this rejection might be overcome by amending to recite all steps in the present tense with clarification as to the required order of the steps.
If (b), then this rejection might be overcome by acknowledging the PbP relationships on the record and then amending to more clearly recite the PbP relationships. If (b), then the recited process in the PbP recitation is not itself claimed and is limiting only to the extent that the structure of the product is clearly required to be limited by that process. Regarding PbP limitations within a claim, MPEP 2113 pertains, as well as, for example, Biogen MA, Inc. v. EMD Serono, Inc. (Fed. Cir. 9-28-2020, precedential).
The above rejections do not apply to claim 2 or its dependent claims, since claim 2 recites "...to train the analytical model and to identify the risk feature."
In claim 16, the recited "...model is trained..." similarly renders that claim indefinite, it similarly being unclear whether "is trained" should be interpreted as a step comprised by the instructions comprised by the "system" or whether "...model is trained" should be interpreted as PbP. This rejection of claim 16 might be overcome by amending to positively recite the training, similarly to how "receive," "apply," etc. are recited.
In claim 1, in the 2nd "receiving" step, the relationship is unclear between the recited "...the training set and the validation set are portions..." and rest of the claim, at least for lack of a grammatical conjunction defining the relationship of this phrase to the rest of the claim, e.g. "receiving..., wherein...[[,]] and the training set and the validation set art portions..." Alternatively, the conjunction could be "or," or there could be some other relationship. The claim is unclear.
In claim 1, at the end of the 2nd "receiving" step, the recited "the hereditary disease or traits" requires but lacks clear antecedent at least because the most similar preceding recitation was "diseases" plural.
In claim 1, in the "diagnosing" step, the recited "the hereditary disease or traits of the patient" requires but lacks clear antecedent at least because (i) previous recitations of "diseases" were plural and (ii) previous recitations were not recited as "of the patient." In the same step, the following similarly renders the claim indefinite: "the presence of the hereditary diseases or traits of the patient."
In claims 2 and 16, the recited "rare" and "relevant" are terms of relative or vague degree or form of association, neither defined in the specification ([6, 53, 83, 91, 118, 132-133]) nor having a well-known and sufficiently particular definition in the art and in the instant context. (MPEP 2173.05(b) pertains.). Although claims are interpreted in light of the specification, examples from the specification are not imported into the claims as limitations absent a clearly limiting definition in the specification. (MPEP 2145.VI pertains.)
In claim 8, the relationship is unclear between this instance of "a disease in the patient" and similar instances previously recited. This rejection may be overcome by amending to identify the instances as clearly the same or clearly different. A similar issue regarding "disease presence" renders claim 9 indefinite. A similar issue regarding "hereditary diseases" renders claims 11 and 12 indefinite.
In claim 9, the recited "such as" renders the claim indefinite for lack of clear optionality. It is unclear whether the subsequent recitation is required.
In claim 12, the recited "the gene associated with a component of the reduced vector" requires but lacks clear antecedent.
In claim 14, the recited "the risk feature associated with the reduced vector" requires but lacks clear antecedent.
In claim 16, the relationship is unclear between the "diseases or traits" (preamble) and the "disease or trait" ("apply" step).
In claim 16, in the "form" step, the recited "each variant for each gene" twice requires and twice lacks clear antecedent, i.e. for "variant" and for "gene."
In claim 16, in the "transform" step, the relationship is unclear between the recited ", or on a higher variance gene subset meeting a threshold" and the rest of the claim.
In claim 16, in the "input" step, the recited "one or risk" renders the claim indefinite as not interpretable.
In claim 17, the recited "...processors execute" renders the claim indefinite at least because a claim to a machine or manufacture, here a "system," cannot directly recite a process step such as "execute." This rejection may be overcome, for example, by reciting the "instructions" as being configured to perform the recited process step. This same issue renders claims 18-19 indefinite. Relatedly, in claim 16, it the "instructions," not the "processors," which should be "configured to cause the system to:..." PHOSITA generally would understand configuration of the "processors" to be transient, typically involving only portions of the "instructions" at a time. Instead, it is the "instructions" which non-transiently embody the limitations of all of the recited process steps, i.e. "receive...," "apply...," etc. It is the structure of the stored "instructions" which cause the claimed "system" to be limited according to the recited steps.
Claim 19 is uninterpretable at least due to a grammatical error at "...wherein diagnose...," which possibly should read "...wherein to diagnose..."
Claim Interpretation
Consistent with interpretation (a) in the above 112(b) rejections and with compact examination in mind, the claims will be examined as if active, present tense steps for identifying the risk feature and training the analytical models are recited.
Claim Rejections - 35 USC § 101
35 U.S.C. 101 reads as follows:
Whoever invents or discovers any new and useful process, machine, manufacture, or composition of matter, or any new and useful improvement thereof, may obtain a patent therefor, subject to the conditions and requirements of this title.
Claims 1-5 and 8-19 are rejected under 35 U.S.C. 101 because the claimed invention is directed to one or more judicial exceptions without significantly more.
MPEP 2106 details the following framework to analyze Subject Matter Eligibility:
Step 1: Are the claims directed to a category of statutory subject matter (a process, machine, manufacture, or composition of matter)? (see MPEP § 2106.03);
Step 2A, Prong One: Do the claims recite a judicially recognized exception, i.e. an abstract idea, a law of nature, or a natural phenomenon? (see MPEP § 2106.04(a)). Note, the MPEP at 2106.04(a)(2) & 2106.04(b) further explains that abstract ideas and laws of nature are defined as:
mathematical concepts, (mathematical formulas or equations, mathematical relationships and mathematical calculations);
certain methods of organizing human activity (fundamental economic practices or principles, managing personal behavior or relationships or interactions between people); and/or
mental processes (procedures for observing, evaluating, analyzing/ judging and organizing information).
laws of nature and natural phenomena are naturally occurring principles/ relations that are naturally occurring or that do not have markedly different characteristics compared to what occurs in nature.
Step 2A, Prong Two: If the claims recite a judicial exception under Prong One, then is the judicial exception integrated into a practical application? (see MPEP § 2106.04(d)); and
Step 2B: If the claims do not integrate the judicial exception, do the claims provide an inventive concept? (see MPEP § 2106.05).
Step 1 Analysis:
Claims 1-5 and 8-15 are directed to a 101 process, here a method. Claims 16-19 are directed to a 101 machine or manufacture, here a system. As such, claims 1-5 and 8-19 are directed to a related system and method, which fall under categories of statutory subject matter. (See MPEP § 2106.03). (Step 1: Yes.)
Step 2A, Prong One Analysis:
The claims recite judicial exceptions (JEs) of mathematical concepts, mental processes, and a law of nature as follows:
Independent claim 1 recites abstract ideas (mathematical concepts and mental processes) as follows: identify risk feature; training using cross-validation; diagnosing the hereditary disease or traits based on the risk feature.
Dependent claim 2 recites abstract ideas (mathematical concepts) of: applying a variant filter; forming a vector in a multidimensional space; transforming the vector using a dimensionality reduction technique; inputting the vector as vectorized genomic characterizations into an analytical model to train; and to identify (mental process). Dependent claim 3 recites abstract ideas (mathematical concepts and mental processes) of: using a principal component analysis technique or a t-distributed, stochastic neighbor embedded technique. Dependent claim 4 recites abstract ideas (mathematical concepts and mental processes) of applying a raw filter. Dependent claim 5 recites abstract ideas (mathematical concepts and mental processes) of: identifying the risk feature in the reduced vector. Dependent claim 8 recites abstract ideas (mathematical concepts and mental processes) of: determining a presence of a disease, and a confidence level. Dependent claim 9 recites abstract ideas (mathematical concepts and mental processes) of: determining a discrete value. Dependent claims 10-14 recites abstract ideas (mathematical concepts and mental processes) in performing identifying steps associated with the reduced vector respectively for: identifying driver factors; identifying a subtype of hereditary diseases/traits using a clustering algorithm; identifying an organ associated with hereditary diseases/traits; identifying a treatment for the hereditary diseases in the patient; and identifying at least one neuroanatomical region. Dependent claim 15 further limits the disease and the diagnosing of claim 1 to autism, a neuropsychiatric disorder, or a neurotypical control.
Independent claim 16 recites similar abstract ideas (mathematical concepts and mental processes) as recited in claims 1 and 2.
Dependent claim 17 recites abstract ideas (mathematical concepts and mental processes) to: apply a variant filter, and score a variant. Dependent claim 18 recites abstract ideas (mathematical concepts and mental processes) to: determine a confidence level for the presence of the hereditary diseases or traits. Dependent claim 19 recites abstract ideas (mathematical concepts and mental processes) to: determine a continuous value; and to identify a range of the continuous value.
Additionally, claims 1-5 and 8-19 recite a law of nature which correlates the naturally occurring genotype in a genomic characterization for a patient, with the phenotype of presence or absence of the hereditary disease or traits in that patient.
Step 2A Prong One summary: The claims recite JEs, characterized as mental processes, mathematical concepts, and a law of nature. Considering the broadest reasonable interpretation (BRI) of the claims, the mental processes recited in the claims (e.g., "identifying the risk feature," "diagnosing… based on the risk feature,” determining presence of disease," "determining a confidence level," using principal components analysis," etc.) are claimed in a way which does not prevent performance in the human mind or with pen and paper. Additionally, the limitations for cross-validation, training, dimensionality reduction, principal component analysis, t-distributed, stochastic neighbor embedded technique, etc. inherently recite mathematical concepts such as those disclosed in Specification [0056,0058, 0060-0064, 0071, 0077-0078]. Such analysis performed mentally, or with paper and pencil, may take considerable time and effort, and although a general-purpose computer can perform these calculations at a rate and accuracy that can far exceed the mental performance of a skilled artisan, the nature of the activity is essentially the same, and therefore constitutes an abstract idea. Finally, the law of nature correlates naturally occurring genomic characterization of a patient with the phenotypic presence or absence of hereditary disease or traits in the patient.
Therefore, the claims recite elements that constitute judicial exceptions in the form of abstract ideas and law of nature. (Step 2A, Prong One: Yes.)
Step 2A, Prong Two Analysis:
In Step 2A, Prong One above, claim steps and/or elements were identified as part of one or more judicial exceptions (JEs). Here at Step 2A, Prong Two, any remaining steps and/or elements not identified as JEs are therefore in addition to the identified JE(s), and are considered additional elements. Because the claims have been interpreted as being directed to judicial exceptions (abstract ideas in this instance) then Step 2A, Prong Two provides that the claims be examined further to determine whether the judicial exception is integrated into a practical application [see MPEP § 2106.04(d)]. A claim can be said to integrate a judicial exception into a practical application when it applies, relies on, or uses the judicial exception in a manner that imposes a meaningful limit on the judicial exception.
MPEP § 2106.04(d)(I) lists the following five example considerations for evaluating whether a judicial exception is integrated into a practical application:
(1) An improvement in the functioning of a computer or an improvement to other technology or another technical field, as discussed in MPEP §§ 2106.04(d)(1) and 2106.05(a).
(2) Applying or using a judicial exception to effect a particular treatment or prophylaxis for a disease or medical condition, as discussed in MPEP § 2106.04(d)(2).
(3) Implementing a judicial exception with, or using a judicial exception in conjunction with, a particular machine or manufacture that is integral to the claim, as discussed in MPEP § 2106.05(b).
(4) Effecting a transformation or reduction of a particular article to a different state or thing, as discussed in MPEP § 2106.05(c).
(5) Applying or using the judicial exception in some other meaningful way beyond generally linking the use of the judicial exception to a particular technological environment, such that the claim as a whole is more than a drafting effort designed to monopolize the exception, as discussed in MPEP § 2106.05(e).
The claims recite additional elements as follows:
Additional elements of data gathering steps: Claims 1, 2, and 16 recite the additional element of: receiving data (genomic characterizations); claim 1 also recites the additional element of receiving a risk feature. These steps represent data gathering steps, which are additional elements for performing functions of inputting, collecting, and outputting the data needed to carry out the abstract idea. These steps are considered insignificant extra-solution activity, and are not sufficient to integrate an abstract idea into a practical application as they do not impose any meaningful limitation on the abstract idea or how it is performed, nor do they provide an improvement to technology [see MPEP § 2106.04(d)(I)].
Additional elements of computer components: Claims 1-5 and 8-15 recite an additional element of a computer; claim 16-19 recite a system with memory and processor. The claims require only generic computer components, which do not improve computer technology, and do not integrate the recited judicial exception into a practical application (see MPEP § 2106.04(d)(1) and MPEP § 2106.05(f)).
Step 2A Prong Two summary: Claim 1-3, 5-8, and 10-12 have been further analyzed with respect to Step 2A, Prong Two, and no additional elements have been found, alone or in combination, that would integrate the judicial exception into a practical application. (Step 2A, Prong Two: No.)
Step 2B analysis:
Because the additional claim elements do not integrate the abstract idea or law of nature into a practical application, the claims are further examined under Step 2B, which evaluates whether the additional elements, individually and in combination, amount to significantly more than the judicial exception itself by providing an inventive concept. An inventive concept is furnished by an element or combination of elements that is recited in the claim in addition to the judicial exception, and is sufficient to ensure that the claim, as a whole, amounts to significantly more than the judicial exception itself (see MPEP § 2106.05).
The claims do not include additional elements that are sufficient to amount to significantly more than the judicial exception because the claims recite additional elements that are well-understood, routine, and conventional. Those additional elements are as follows:
Additional elements of data gathering/ outputting steps: The additional elements of receiving data in claims 1, 2, and 16 do not cause the claims to rise to the level of significantly more than the judicial exception. The courts have recognized receiving or transmitting data over a network; storing and retrieving information in memory; determining the level of a biomarker in blood by any means; using polymerase chain reaction to amplify and detect DNA; detecting DNA or enzymes in a sample; analyzing DNA to provide sequence information or detect allelic variants; and amplifying and sequencing nucleic acid sequences, [see MPEP§2106.05(d)(II)], as well-understood, routine, conventional activity when they are claimed in a merely generic manner (e.g., at a high level of generality) or as extra-solution activity. As such, the additional elements of data gathering are shown to be routine, well-understood, and conventional in the art, and do not provide an inventive concept needed to amount to significantly more than the judicial exception.
Additional elements of computer components: The additional elements of a computer in claim 1-5 and 8-15, and a system with memory and processor of claim 16-19 recite, do not cause the claims to rise to the level of significantly more than the judicial exception; these are conventional computer components, which do not provide an inventive concept.
Further regarding the conventionality of additional elements, the MPEP at 2106.05(b) and 2106.05(d) presents several points relevant to conventional computers and data gathering steps in regard to Step 2A Prong 2 and Step 2B, including:
• A general purpose computer that applies a judicial exception, such as an abstract idea, by use of conventional computer functions, does not qualify as a particular machine (see 2106.05(b)(I)), as in the case of claims 1-5 and 8-19, which are interpreted to recite conventional computer components.
• Integral use of a machine to achieve performance of a method may integrate the recited judicial exception into a practical application or provide significantly more, in contrast to where the machine is merely an object on which the method operates, which does not integrate the exception into a practical application or provide significantly more (see 2106.05(b)(II). In the instant claims, the recited computer, processor, and memory are used in applying variant filters, forming vectors, etc.; as such, the computer, processor, and memory act only as a tool to perform the steps of data analysis, and do not integrate the exception into a practical application or provide significantly more.
• Use of a machine that contributes only nominally or insignificantly to the execution of the claimed method (e.g., in a data gathering step or in a field-of-use limitation) would not integrate a judicial exception or provide significantly more (see 2106.05(b)(III). The processor and memory of claim 16-19 used in performing data analysis does not impose meaningful limitations on the claims.
• The courts have recognized “receiving or transmitting data over a network”, “performing repetitive calculations”, and “storing and retrieving information in memory”, as well-understood, routine, and conventional functions when they are claimed in a merely generic manner (e.g., at a high level of generality) or as insignificant extra-solution activity (see MPEP 2106.05(d)(II)). The receiving of data in claim 1, 2, and 16 is recited in a generic manner.
Step 2B Summary: All limitations of claims 1-5 and 8-19 have been analyzed with respect to Step 2B, and none provides a specific inventive concept, as they all fail to rise to the level of significantly more than the identified judicial exception, and thus do not transform the judicial exception into a patent eligible application of the exceptions. (Step2B: No.)
Therefore, claims 1-5 and 8-19, when the limitations are considered individually and as a whole, are rejected under 35 U.S.C. § 101 as being directed to non patent-eligible subject matter.
Claim Rejections - 35 USC § 103
In the event the determination of the status of the application as subject to AIA 35 U.S.C. 102 and 103 (or as subject to pre-AIA 35 U.S.C. 102 and 103) is incorrect, any correction of the statutory basis (i.e., changing from AIA to pre-AIA ) for the rejection will not be considered a new ground of rejection if the prior art relied upon, and the rationale supporting the rejection, would be the same under either status.
The following is a quotation of 35 U.S.C. 103 which forms the basis for all obviousness rejections set forth in this Office action:
A patent for a claimed invention may not be obtained, notwithstanding that the claimed invention is not identically disclosed as set forth in section 102, if the differences between the claimed invention and the prior art are such that the claimed invention as a whole would have been obvious before the effective filing date of the claimed invention to a person having ordinary skill in the art to which the claimed invention pertains. Patentability shall not be negated by the manner in which the invention was made.
This application currently names joint inventors. In considering patentability of the claims the examiner presumes that the subject matter of the various claims was commonly owned as of the effective filing date of the claimed invention(s) absent any evidence to the contrary. Applicant is advised of the obligation under 37 CFR 1.56 to point out the inventor and effective filing dates of each claim that was not commonly owned as of the effective filing date of the later invention in order for the examiner to consider the applicability of 35 U.S.C. 102(b)(2)(C) for any potential 35 U.S.C. 102(a)(2) prior art against the later invention.
Claims 1-5 and 8-19 are rejected under 35 U.S.C. 103 as being unpatentable over Maier, (Nature communications, vol. 9(1):989, pp.1-17 (2018); cited on the attached form PTO-892) in view of Hu, (Autism research, vol. 2(2), pp.78-97 (2009); cited on the attached form PTO-892).
Regarding receiving a genomic characterization and a risk feature of claims 1 and 16, Maier shows developing a framework that combines publicly available GWAS (i.e., genomic characterization) summary statistics across multiple studies of different traits together in a weighted index to generate approximate "multi-trait summary statistic best linear unbiased predictor" (wMT-SBLUP) (p. 2, col. 1, para. 4). Maier shows using a multi-trait framework (MT-SBLUP) they found a computational limitation associated with the inversion of a SNP-by-SNP(i.e., risk feature)-by-trait matrix (p. 2, col. 2, para. 1).
Regarding the model being trained using cross-validation of a training set and a validation set, the set being vectorized genomic characterizations with a known presence or absence of the hereditary disease or traits; diagnosing the hereditary disease or traits of claim 1; and where the hereditary disease is a neuropsychiatric disease of claim 15: Maier shows vectors used in estimation BLUP SNP effects for a single trait (p. 7, col. 1, para. 1), and vectors throughout p. 7-8. Maier shows application of a cross-validation approach; in each iteration of the cross-validation, a different cohort acts as the test set and a different set of cohorts comprises the training set (p. 10, col. 2, paragraphs 3 and 5), Maier teaches application of their BLUB SNP predictor (i.e., diagnosing) approach to schizophrenia (SCZ) and bipolar disorder (BIP) samples (p. 10, col. 1, para. 8).
Regarding applying a variant filter, and forming a vector, transforming the vector, and inputting the reduced vector to train the model of claims 2 and 16; and the principal component analysis of claim 3; applying a raw filter based on a frequency of a variant being lower than a pre-selected value of claim 4; identifying a risk feature of claim 5; score a variant of claim 17; and determining presence of a disease in a patient of claims 8 and 18: Maier teaches vectors of random SNP effects for traits and transforming matrices (throughout p. 8). Maier teaches conducting a simulation study based on real genotypes from the Kaiser Permanente study (Genetic Epidemiology Research on Adult Health and Aging: GERA cohort) and simulated phenotypes (p. 9, col.2, para. 9). Maier shows best-guess genotypes at common SNPs included in the HapMap 3 European sample were then extracted and filtered for imputation info score >0.5, missing data rate of <0.01, minor allele frequency >0.01, per-person missing data rate <0.01 and Hardy–Weinberg disequilibrium p-value < 1 × 10−6; principal component analysis was performed and individuals removed with principal eigenvector values that were >7 SD from the mean of the European cluster; pairs of individuals were identified with genetic relatedness matrix >0.05 and one individual was removed from each of these pairs. (bridging p.9-10).
Regarding determining a discrete value such as a disease presence of claim 9; identifying driver factors of claim 10; and continuous values of claim 19: Maier shows creating approximate SBLUP effects using the OLS SNP effects from Eq. (5) and the ARIC data as an LD reference using Eq. (11) and set the shrinkage parameter, λ, to 1,300,000 for schizophrenia and to 2,000,000 for bipolar disorder, corresponding to observed scale SNP heritability estimates of 0.43 and 0.33 for schizophrenia and bipolar disorder, respectively; the PLINK “score” was then used function to turn SNP effects into individual predictors (p. 10, end of col.2).
Maier does not show identifying a subtype of hereditary disease of claim 11, identifying an organ associated with hereditary disease or traits based on gene expression of claim 12, identifying a treatment of claim 13, and identifying a neuroanatomical region of claim 14.
Regarding receiving a risk feature that correlates with a presence of the hereditary diseases or traits of claim 1 and 16, and identifying a subtype of hereditary disease of claim 11, Hu bolsters Maier in presenting a study on differentiating autism phenotypes using gene expression profiling (entire document). Hu shows that the gene expression profiles associated with each of three ASD phenotypes show both quantitative and qualitative differences. Hu shows specific differentially expressed circadian rhythm genes (i.e., risk feature) in the severe autism spectrum disorder (ASD) phenotype affect multiple processes commonly associated with ASD pathology (p. 12, fig. 7).
Regarding identifying an organ associated with hereditary disease or traits based on gene expression of claim 12, identifying a treatment of claim 13, and identifying a neuroanatomical region of claim 14, Hu shows (at p. 11, Table V, Neurological Functions and Disorders Associated With Differentially Expressed Genes From the Language, Mild and Savant Subgroups) shows significantly differentially expressed genes in organ types and neuroanatomical regions (e.g., damage of striatum, brain volume) (p. 11, Table V). Hu teaches anticonvulsant medications, often prescribed for epilepsy associated with DPYD deficiency, are also efficacious in improving behaviors in a subgroup of ASD individuals, and it is therefore suggested that evaluation of DPYD status, b-alanine levels, or circadian rhythm function in ASD individuals might be helpful in identifying those patients that would most benefit from this type of medication.
It would have been obvious to one of ordinary skill in the art before the effective filing date of the claimed invention to combine the method of genetic prediction by analyzing correlations between diseases and traits of Maier and the method for analyzing correlations between gene expression profiles and phenotype in autism subtypes of Hu, to come to a method for genetic prediction and diagnosis using gene expression profiling by analyzing correlations between hereditary diseases and traits. Maier adds motivation to combine by disclosing: genomic prediction of complex common disease will continually improve, especially when predictors of multiple phenotypes are integrated across studies (Maier, p. 5, para. 2), while Hu demonstrates discrimination of autistic from nonautistic individuals based upon gene expression profiles, and further showing both qualitative and quantitative differences in gene expression between autism subgroups (Hu, p. 2, col. 2, para. 2). One would have had a reasonable expectation of success in combining, because Maier and Hu are generally drawn to related teaching of analyzing genotype-phenotype correlations in disease, and one of ordinary skill in the art would have understood how to and would have been motivated to apply the teaching of Hu to the related teachings of Maier, and as such, the combination would have been obvious.
Conclusion
No claims are allowed. This is a Non-Final Office action. A shortened statutory period for reply is set to expire THREE MONTHS from the mailing date of this action.
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/M.A.V./Examiner, Art Unit 1687
/G. STEVEN VANNI/Primary patents examiner, Art Unit 1686