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 .
DETAILED ACTION
This action is in reference to the communication filed on 26 SEPT 2025.
Amendments to claims 1, 4, entered and considered, as is the cancellation of claims 5-7.
Claims 1-5, 8-10 pending and examined.
Claim Interpretation
Claim 1 objected to because of the following informalities: Claim 1 recites wherein the “unit preprocesses and normlise[] the data…” Examiner assumes the intention was to have the term normalise[s]. Appropriate correction is required.
Claim Interpretation
The following is a quotation of 35 U.S.C. 112(f):
(f) Element in Claim for a Combination. – An element in a claim for a combination may be expressed as a means or step for performing a specified function without the recital of structure, material, or acts in support thereof, and such claim shall be construed to cover the corresponding structure, material, or acts described in the specification and equivalents thereof.
The following is a quotation of pre-AIA 35 U.S.C. 112, sixth paragraph:
An element in a claim for a combination may be expressed as a means or step for performing a specified function without the recital of structure, material, or acts in support thereof, and such claim shall be construed to cover the corresponding structure, material, or acts described in the specification and equivalents thereof.
The claims in this application are given their broadest reasonable interpretation using the plain meaning of the claim language in light of the specification as it would be understood by one of ordinary skill in the art. The broadest reasonable interpretation of a claim element (also commonly referred to as a claim limitation) is limited by the description in the specification when 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph, is invoked.
As explained in MPEP § 2181, subsection I, claim limitations that meet the following three-prong test will be interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph:
(A) the claim limitation uses the term “means” or “step” or a term used as a substitute for “means” that is a generic placeholder (also called a nonce term or a non-structural term having no specific structural meaning) for performing the claimed function;
(B) the term “means” or “step” or the generic placeholder is modified by functional language, typically, but not always linked by the transition word “for” (e.g., “means for”) or another linking word or phrase, such as “configured to” or “so that”; and
(C) the term “means” or “step” or the generic placeholder is not modified by sufficient structure, material, or acts for performing the claimed function.
Use of the word “means” (or “step”) in a claim with functional language creates a rebuttable presumption that the claim limitation is to be treated in accordance with 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph. The presumption that the claim limitation is interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph, is rebutted when the claim limitation recites sufficient structure, material, or acts to entirely perform the recited function.
Absence of the word “means” (or “step”) in a claim creates a rebuttable presumption that the claim limitation is not to be treated in accordance with 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph. The presumption that the claim limitation is not interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph, is rebutted when the claim limitation recites function without reciting sufficient structure, material or acts to entirely perform the recited function.
Claim limitations in this application that use the word “means” (or “step”) are being interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph, except as otherwise indicated in an Office action. Conversely, claim limitations in this application that do not use the word “means” (or “step”) are not being interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph, except as otherwise indicated in an Office action.
This application includes one or more claim limitations that do not use the word “means,” but are nonetheless being interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph, because the claim limitation(s) uses a generic placeholder that is coupled with functional language without reciting sufficient structure to perform the recited function and the generic placeholder is not preceded by a structural modifier. Such claim limitation(s) is/are: “unit” in claims 1, 4, 8-10.
Because this/these claim limitation(s) is/are being interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph, it/they is/are being interpreted to cover the corresponding structure described in the specification as performing the claimed function, and equivalents thereof.
If applicant does not intend to have this/these limitation(s) interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph, applicant may: (1) amend the claim limitation(s) to avoid it/them being interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph (e.g., by reciting sufficient structure to perform the claimed function); or (2) present a sufficient showing that the claim limitation(s) recite(s) sufficient structure to perform the claimed function so as to avoid it/them being interpreted under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph.
Claim Rejections - 35 USC § 112
The following is a quotation of 35 U.S.C. 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.
The following is a quotation of 35 U.S.C. 112 (pre-AIA ), second paragraph:
The specification shall conclude with one or more claims particularly pointing out and distinctly claiming the subject matter which the applicant regards as his invention.
Claim limitation “collection and extraction unit," “genetic analysis unit” a “genomics analysis unit” a “comparative analysis unit” a “database unit” a “smart diagnostic unit” and a “network unit” in claims 1-4, 8-10 invokes 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph. However, the written description fails to disclose the corresponding structure, material, or acts for performing the entire claimed function and to clearly link the structure, material, or acts to the function. Examiner does not find the specification identifies the structure(s) nor the link between these elements to perform the claimed functions. Therefore, the claim is indefinite and is rejected under 35 U.S.C. 112(b) or pre-AIA 35 U.S.C. 112, second paragraph.
Applicant may:
(a) Amend the claim so that the claim limitation will no longer be interpreted as a limitation under 35 U.S.C. 112(f) or pre-AIA 35 U.S.C. 112, sixth paragraph;
(b) Amend the written description of the specification such that it expressly recites what structure, material, or acts perform the entire claimed function, without introducing any new matter (35 U.S.C. 132(a)); or
(c) Amend the written description of the specification such that it clearly links the structure, material, or acts disclosed therein to the function recited in the claim, without introducing any new matter (35 U.S.C. 132(a)).
If applicant is of the opinion that the written description of the specification already implicitly or inherently discloses the corresponding structure, material, or acts and clearly links them to the function so that one of ordinary skill in the art would recognize what structure, material, or acts perform the claimed function, applicant should clarify the record by either:
(a) Amending the written description of the specification such that it expressly recites the corresponding structure, material, or acts for performing the claimed function and clearly links or associates the structure, material, or acts to the claimed function, without introducing any new matter (35 U.S.C. 132(a)); or
(b) Stating on the record what the corresponding structure, material, or acts, which are implicitly or inherently set forth in the written description of the specification, perform the claimed function. For more information, see 37 CFR 1.75(d) and MPEP §§ 608.01(o) and 2181.
Per MPEP 2181 IV:
“When a claim containing a computer-implemented 35 U.S.C. 112(f) claim limitation is found to be indefinite under 35 U.S.C. 112(b) for failure to disclose sufficient corresponding structure (e.g., the computer and the algorithm) in the specification that performs the entire claimed function, it will also lack written description under section 112(a).”
The following is a quotation of the first paragraph of 35 U.S.C. 112(a):
(a) IN GENERAL.—The specification shall contain a written description of the invention, and of the manner and process of making and using it, in such full, clear, concise, and exact terms as to enable any person skilled in the art to which it pertains, or with which it is most nearly connected, to make and use the same, and shall set forth the best mode contemplated by the inventor or joint inventor of carrying out the invention.
The following is a quotation of the first paragraph of pre-AIA 35 U.S.C. 112:
The specification shall contain a written description of the invention, and of the manner and process of making and using it, in such full, clear, concise, and exact terms as to enable any person skilled in the art to which it pertains, or with which it is most nearly connected, to make and use the same, and shall set forth the best mode contemplated by the inventor of carrying out his invention.
As described above, the disclosure does not provide adequate structure to perform the claimed functions of “collection and extraction unit," “genetic analysis unit” a “genomics analysis unit” a comparative analysis unit” a “database unit” a “smart diagnostic unit” and a “network unit” as identified above in claims 1-4, 8-10.
The specification does not demonstrate that applicant has made an invention that achieves the claimed function because the invention is not described with sufficient detail such that one of ordinary skill in the art can reasonably conclude that the inventor had possession of the claimed invention. Figure 2 and related text provides discussion generally about the functioning of each of the units, however, no actual structure nor link between a function and a structure is found in the specification. Fig 2 only recites a “computer implemented method” rather than providing any sort of disclosure as to the presence of a computer itself. As such, one of ordinary skill in the art would be able to conclude the inventor had possession of the claimed invention in that the structure to execute the claimed invention is not present.
The following is a quotation of 35 U.S.C. 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.
The following is a quotation of 35 U.S.C. 112 (pre-AIA ), second paragraph:
The specification shall conclude with one or more claims particularly pointing out and distinctly claiming the subject matter which the applicant regards as his invention.
Claims 1, 4, and by extension, claims 2-3, 8-10 rejected under 35 U.S.C. 112(b) or 35 U.S.C. 112 (pre-AIA ), second paragraph, as being indefinite for failing to particularly point out and distinctly claim the subject matter which the inventor or a joint inventor (or for applications subject to pre-AIA 35 U.S.C. 112, the applicant), regards as the invention.
The term “Storing properly” and “easy storage” in claims 1, 4, is a relative term which renders the claim indefinite. The term “properly” and/or “easy” is not defined by the claim, the specification does not provide a standard for ascertaining the requisite degree, and one of ordinary skill in the art would not be reasonably apprised of the scope of the invention. It is unclear what constitutes “proper” storage, or “easy” retrieval, in view of the database elements of claims 1, 4, as it would appear that the physical sample or DNA itself is not being stored or retrieved, rather, the intention of the claim is to store data pertaining to the sample.
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 1-4, 8-10 rejected under 35 U.S.C. 101 because the claimed invention is directed to non-statutory subject matter. As explained below, the claim(s) are directed to an abstract idea without significantly more.
Step One: Is the Claim directed to a process, machine, manufacture or composition of matter? YES
With respect to claim(s) 1-4, 8-10 the independent claim(s) 1, 4 recite(s) a statutory category of invention.
Step 2A – Prong One: Is the claim directed to a law of nature, a natural phenomenon (product of nature) or an abstract idea? YES
With respect to claim(s) 1-10 the independent claim(s) (claims 1, 4) is/are directed, in part, to
A method for identifying and diagnosing genetic disorders, the method comprising:
obtaining a sample from a subject;
storing properly the extracted deoxyribonucleic acid (DNA) from the collected sample;
analyzing for the presence of a genetic mutation or a genetic profile associated with the disorder;
comparing the identified mutation or profile with a database of known mutations or profiles associated with various genetic disorders; and
providing probable diagnosis of the disorder based on the comparative results obtained.
4
a
a functional genomics analysis unit; and a comparative analysis unit;
a
easy retrieval of information from previous research studies or clinical trials;
a smart diagnostic unit linked to the
The claims are further directed to a mental process, in that the claims ensconce concepts performed in the human mind including observation, evaluation, judgment, and opinion functions. The identified elements including analyzing and drawing conclusions, all of which fall into the mental tasks outlined. If a claim limitation, under its broadest reasonable interpretation, covers a concept performed in the human mind, then it/they falls/ fall into the “mental processes” category.
If a claim limitation, under its broadest reasonable interpretation, covers commercial and legal interactions, then it falls within the “mental process” grouping of abstract ideas. Accordingly, the claim recites an abstract idea.
Step 2A – Prong Two: Does the claim recite additional elements that integrate the judicial exception into a practical application? NO.
This judicial exception is not integrated into a practical application. Claims 1 and 4 also recite extraction of the DNA. Claim 1 does not recite any additional elements for consideration at this step; Examiner makes reference to the claim interpretation and subsequent analysis as noted above. Claim 4 nominally (s) recite(s) additional element – a “computer,” a “database” and “networking” to perform the claim steps. The computer, database, and networking in claim 4 are recited at a high level of generality and as such amount to no more than adding the words “apply it” to the judicial exception, or mere instructions to implement the abstract idea on a computer, or merely uses the computer as a tool to perform the abstract idea (see MPEP 2106.05f), or generally links the use of the judicial exception to a particular technological field of use/computing environment (see MPEP 2106.05h). Examiner finds the database and the networking to be examples of adding insignificant extra solution activity to the judicial exception(s) identified (see MPEP 2106.05g), i.e. sending/storing data. There is no improvement to the functioning of the computer or any other technology or technical field in identified elements claimed (see MPEP 2106.05a), nor any other application or use of the judicial exception in some meaningful way beyond a general like between the use of the judicial exception to a particular technological environment (see MPEP 2106.05e).
Similarly, Examiner finds that the DNA extraction is merely used as a tool to execute the probable diagnosis process – i.e. the process itself (the technical process) is not at all improved by the claimed limitations, nor is a particular machine contemplated or claimed, nor anything beyond a general link between DNA extraction and the abstract idea(s) identified.
Accordingly, this/these additional element(s) do(es) not integrate the abstract idea into a practical application because it does not impose any meaningful limits on practicing the abstract idea. The claim is directed to an abstract idea.
Step 2B: Does the claim recite additional elements that amount to significantly more than the judicial exception? NO.
Claims 1, 4 recites DNA extraction. Claim 1 does not recite any additional elements for consideration at this step. Claim 4 nominally (s) recite(s) additional element – a “computer,” a “database” and “networking” to perform the claim steps. When considered individually, the above identified claim elements only contribute generic recitations of technical elements to the claims. It is readily apparent, for example, that the claim is not directed to any specific improvements of these elements. Examiner looks to Applicant’s specification:
Examiner finds no mention of the computer beyond language similar to the claim itself:
[0025] Embodiments of the present invention relate to a computer implemented system of identifying and diagnosing genetic disorders.
As per the DNA extraction:
[0054] In an embodiment of the present disclosure, the extraction of deoxyribonucleic acid (DNA) from the collected sample may involves breaking open cells to release the deoxyribonucleic acid (DNA), removing proteins and other contaminants, and isolating the deoxyribonucleic acid (DNA) using techniques such as, but not limited to, phenol-chloroform extraction, silica membrane-based purification, and/or magnetic bead-based purification. (i.e. the means of extraction is not purported to be part of the novelty of the invention, any means providing the desired end result is suitable, including the identified well known techniques)
In the interest of compact prosecution, Examiner considers processing assembly:
[0066] The processing and analytics assembly 204 may be linked to the collection and extraction unit 202 and the processing and analytics assembly 204 may further comprise a comprehensive genetic analysis unit 212, a functional genomics analysis unit 214, and a comparative analysis unit 216.
However, this is again recited only in functional terms.
[0074] In some embodiments, the network unit 210 may provide high-speed internet connectivity and may include a wireless communication network, a 3G communication network, a 4G communication network, a 5G communication network, or any combination thereof any transceiver, or any combination thereof. Embodiments of the present disclosure are intended to cover any communication network technology, including known, prior art or later developed technologies. In some embodiments, the network unit 210 may be a local area communication network (LAN), wide area communication network (WAN), private networks, and such or a combination thereof.
Finally, as per the database,
[0060] In some embodiments, computational prediction tools are used to evaluate the clinical significance of the genetic variants and their relevance to the associated genetic disorders. In some embodiments, the databases may be curated databases of disease-causing mutations, genotype-phenotype associations, or clinical guidelines.
[0061] In an alternate embodiment, for comparison of genetic data various bioinformatics tools and databases may be used, such as, Variant Annotation and Interpretation Tools including, Variant Effect Predictor, and SnpEff, Variant Calling and Comparison Tools including, Genome Analysis Toolkit and Samtools, Variant Frequency Databases including, gnomAD and Exome Aggregation Consortium, Clinical Variant Interpretation Tools, including, ClinVar and InterVar, Genotype-Phenotype Association Tools including, Phenolyzer and Disease Variant Store, Population Genetics Tools including, PLINK and ADMIXTURE, and Phylogenetic Analysis Tools including RAxML and Bayesian Evolutionary Analysis Sampling Trees.
(I.e. the database itself is categorically stated to be existing databases storing pre-existing information as collected.)
These passages, as well as others, makes it clear that the invention is not directed to a technical improvement. When the claims are considered individually and as a whole, the additional elements noted above, appear to merely apply the abstract concept to a technical environment in a very general sense – i.e. a generic computer receives information from another generic computer, processes the information and then sends information back. The most significant elements of the claims, that is the elements that really outline the inventive elements of the claims, are set forth in the elements identified as an abstract idea. The fact that the generic computing devices are facilitating the abstract concept is not enough to confer statutory subject matter eligibility.
As per dependent claims 2, 3, 5-10:
Dependent claims 2, 3, 8-10 are not directed any additional abstract ideas and are also not directed to any additional non-abstract claim elements. Rather, these claims offer further descriptive limitations of elements found in the independent claims and addressed above – such as the steps or types of data considered in the mental process itself, as well as the sources and the conclusions made in the diagnosis process. While these descriptive elements may provide further helpful context for the claimed invention these elements do not serve to confer subject matter eligibility to the invention since their individual and combined significance is still not heavier than the abstract concepts at the core of the claimed invention.
Claim Rejections - 35 USC § 102
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 the appropriate paragraphs of 35 U.S.C. 102 that form the basis for the rejections under this section made in this Office action:
A person shall be entitled to a patent unless –
(a)(1) the claimed invention was patented, described in a printed publication, or in public use, on sale, or otherwise available to the public before the effective filing date of the claimed invention.
Claim(s) 1-4, 8-10 is/are rejected under 35 U.S.C. 102a1 as being anticipated by Lapidus et al (US 20130178389 A1, hereinafter Lapidus).
In reference to claim 1:
Lapidus teaches: A method for identifying and diagnosing genetic disorders, the method comprising:
obtaining a sample from a subject (at least [016-017] “Methods of the invention involve obtaining a sample, e.g., cell, tissue, blood, bone, or body fluid. Samples may include blood, a blood fraction, saliva, sputum, urine, semen, transvaginal fluid, cerebrospinal fluid, or stool…The sample may be obtained by methods known in the art, such as a cheek swab, phlebotomy, fine needle aspiration, core needle biopsy, vacuum assisted biopsy, direct and frontal lobe biopsy, shave biopsy, punch biopsy, excisional biopsy, or cutterage biopsy.”);
extracting deoxyribonucleic acid (DNA) from the sample collected via a collection and extraction unit (at least [018] “Once the sample is obtained, nucleic acids are extracted to assess nucleic acid expression profile, nucleic acid sequence, and nucleic acid copy number. Certain aspects of the invention provide for drawing a blood sample and dividing the blood sample into two tubes, one for DNA analysis and the other for RNA analysis.”);
storing properly the extracted deoxyribonucleic acid (DNA) from the collected sample via a database unit (at least [018] “Certain aspects of the invention provide for drawing a blood sample and dividing the blood sample into two tubes, one for DNA analysis and the other for RNA analysis. Preferably enough blood is drawn to fill both tubes.” see also claim 14, and [022-024] sequencing requires storage of the data);
analyzing for the presence of a genetic mutation or a genetic profile associated with the disorder via a comprehensive genetic analysis unit wherein the comprehensive genetic analysis unit preprocesses and normalize the data before analyzation (at least [062-065] “Methods of the invention provide for assessing a patient nucleic acid sequence for known nucleic acid variants associated with autism or other developmental disorders by comparing the patient's nucleic acid sequence to a control reference sequence…The mutations may include a missense mutation, a nonsense mutation, an insertion, a deletion, a duplication, a frameshift mutation, a repeated expansion, or any combination thereof.” See also [066-068] for discussion of mutation identification in the sequence itself; at [046-047] pre processing including normalization);
comparing the identified mutation or profile with a database of known mutations or profiles associated with various genetic disorders via a comparative analysis unit (at least [062-3] “Methods of the invention provide for assessing a patient nucleic acid sequence for known nucleic acid variants associated with autism or other developmental disorders by comparing the patient's nucleic acid sequence to a control reference sequence. The control reference may include a healthy reference sequence, a reference sequence from a patient positively diagnosed with a developmental disorder, or a reference sequence having known variants linked to autism or other developmental disorders…In one embodiment, a patient's sequence is compared directly to a control sequence of a person positively diagnosed with a developmental disorder or a sequences containing mutations known to autism or other developmental disorders. In such embodiment, similarities between the patient's sequence and the control sequence are indicative of a positive diagnosis.”); and
providing probable diagnosis of the disorder based on the comparative results obtained via a smart
diagnostic unit (at least [062-3, 065]“In such embodiment, similarities between the patient's sequence and the control sequence are indicative of a positive diagnosis…Whereas in other embodiments, the patient's sequence is compared to a normal healthy reference sequence in order to determine abnormal variations in the patient's sequence. The changes between the patient's sequence and normal healthy sequence are then assessed to determine a developmental disorder diagnosis”).
In reference to claim 2:
Lapidus further teaches; wherein the analysis is performed using various techniques, including
deoxyribonucleic acid (DNA) sequencing (at least [025-032] various sequencing techniques), polymerase chain reaction (PCR) (at least [040-042]), and/or fluorescence in situ hybridization (FISH) (at least [039]).
In reference to claim 3:
Lapidus further teaches: wherein the database is created using information from previous research studies or clinical trials (at least [060] “Genetic research has linked autism and other developmental disorders to known variations in nucleic acids including genomic variations at specific chromosomal locations and/or specific genes based on specific nucleic acid sequence mutations, abnormal nucleic acid expression profiles, and copy number variations…Known genetic disorders causally linked to specific genes include but are not limited to an autism spectrum disorder, Aspergers syndrome, Pervasive Developmental Disorder not otherwise specified (atypical autism), Angelman Syndrome, cerebral palsy, Cohen syndrome, Down Syndrome, Fragile X syndrome, IsoDicentric 15, Jacobsen syndrome, Prader-Willi Syndrome, Retts Syndrom, Coffin-Lowry Syndrome, Williams Syndrome, and Cornelia de Lange Syndrome.”).
In reference to claim 4:
Lapidus teaches: A computer implemented system of identifying and diagnosing genetic disorders, the system comprising:
a collection and extraction unit configured to obtain a sample from a subject (at least [016-017] “Methods of the invention involve obtaining a sample, e.g., cell, tissue, blood, bone, or body fluid. Samples may include blood, a blood fraction, saliva, sputum, urine, semen, transvaginal fluid, cerebrospinal fluid, or stool…The sample may be obtained by methods known in the art, such as a cheek swab, phlebotomy, fine needle aspiration, core needle biopsy, vacuum assisted biopsy, direct and frontal lobe biopsy, shave biopsy, punch biopsy, excisional biopsy, or cutterage biopsy.”); and
extract and store deoxyribonucleic acid (DNA) from the sample collected (at least [018] “Once the sample is obtained, nucleic acids are extracted to assess nucleic acid expression profile, nucleic acid sequence, and nucleic acid copy number. Certain aspects of the invention provide for drawing a blood sample and dividing the blood sample into two tubes, one for DNA analysis and the other for RNA analysis. Preferably enough blood is drawn to fill both tubes.”);
a processing and analytics assembly linked to the collection and extraction unit, the processing and analytics assembly further comprises:
a comprehensive genetic analysis unit (at least [062-065] “Methods of the invention provide for assessing a patient nucleic acid sequence for known nucleic acid variants associated with autism or other developmental disorders by comparing the patient's nucleic acid sequence to a control reference sequence…The mutations may include a missense mutation, a nonsense mutation, an insertion, a deletion, a duplication, a frameshift mutation, a repeated expansion, or any combination thereof.” See also [066-068] for discussion of mutation identification in the sequence itself) wherein the comprehensive genetic analysis unit [is] configured to provide a comprehensive analysis of genetic mutations associated with various disorders (at least [044, claims 14, 22] computer embodiment, at least [059-062] “Genetic research has linked autism and other developmental disorders to known variations in nucleic acids including genomic variations at specific chromosomal locations and/or specific genes based on specific nucleic acid sequence mutations, abnormal nucleic acid expression profiles, and copy number variations. The variations at specific chromosomal locations and/or specific genes linked to autism and other developmental disorders are positive indicators for the disorder. Therefore, if a patient's genetic characteristics have the same variations, the patient is diagnosed with disorders corresponding to the variation. Known genetic disorders causally linked to specific genes include but are not limited to an autism spectrum disorder, Aspergers syndrome, Pervasive Developmental Disorder not otherwise specified (atypical autism), Angelman Syndrome, cerebral palsy, Cohen syndrome, Down Syndrome, Fragile X syndrome, IsoDicentric 15, Jacobsen syndrome, Prader-Willi Syndrome, Retts Syndrom, Coffin-Lowry Syndrome, Williams Syndrome, and Cornelia de Lange Syndrome.”);
a functional genomics analysis unit (at least [010] “With respect to nucleic acids, the invention contemplates a combination of genomic analysis (e.g., mutations, single nucleotide polymorphisms and the like) and expression analysis. The invention also contemplates combining nucleic acid and protein markers, such as genotyping, expression analysis, amount of protein and the like.”) wherein the functional genomics analysis unit assess the functional consequences of genetic mutations identified by the comprehensive genetic analysis unit on a plurality of factors, including gene expression ( at least [040-041, 048-050, 064] “Methods of the invention provide for assessing for autism based on the patient's nucleic acid expression. Variances in gene expression include differently expressed genes and differential gene expression. A differently expressed gene or differential gene expression refer to a gene whose expression is activated to a higher or lower level in a subject suffering from a disorder, such as an autism spectrum disorder, relative to its expression in a normal or control subject…”), protein function (at least [056, 014, 024] “The targeted exome is usually the portion of the DNA that translate into proteins, however regions of the exome that do not translate into proteins may also be included within the sequence. Also, the targeted exome may be chosen because genes within the exome are known to causally relate to autism or other developmental disorders”), and/or cellular pathways (at least [068] “Where the gene is not a known regulator, or the regulatory influences are not known in detail, or are too complex to predict, one would look for derangements of expression in the pathway(s) containing the mutated gene. The combination of cis, trans, and pathway evidence integration helps identify mutations with functional effect on a personalized basis. No single pathway signature that is expected to be common to all individuals with the disorder, instead of variety of risk-gene-associated pathways and subnetworks define independent signatures, any of which can be indicative of disease.” See also [044, claims 14, 22] computer embodiment); and
a comparative analysis unit, wherein the comparative analysis unit compares the identified mutation or profile with the known mutations or profiles associated with various genetic disorders retrieved form the database unit (at least [062-3] “Methods of the invention provide for assessing a patient nucleic acid sequence for known nucleic acid variants associated with autism or other developmental disorders by comparing the patient's nucleic acid sequence to a control reference sequence. The control reference may include a healthy reference sequence, a reference sequence from a patient positively diagnosed with a developmental disorder, or a reference sequence having known variants linked to autism or other developmental disorders…In one embodiment, a patient's sequence is compared directly to a control sequence of a person positively diagnosed with a developmental disorder or a sequences containing mutations known to autism or other developmental disorders. In such embodiment, similarities between the patient's sequence and the control sequence are indicative of a positive diagnosis.” See also [044, claims 14, 22] computer embodiment);
a database unit linked to the processing and analytics assembly, the database unit configured for:
easy storage of information from previous research studies or clinical trials (at least [060] “Genetic research has linked autism and other developmental disorders to known variations in nucleic acids including genomic variations at specific chromosomal locations and/or specific genes based on specific nucleic acid sequence mutations, abnormal nucleic acid expression profiles, and copy number variations…Known genetic disorders causally linked to specific genes include but are not limited to an autism spectrum disorder, Aspergers syndrome, Pervasive Developmental Disorder not otherwise specified (atypical autism), Angelman Syndrome, cerebral palsy, Cohen syndrome, Down Syndrome, Fragile X syndrome, IsoDicentric 15, Jacobsen syndrome, Prader-Willi Syndrome, Retts Syndrom, Coffin-Lowry Syndrome, Williams Syndrome, and Cornelia de Lange Syndrome.”); and
easy retrieval of information from previous research studies or clinical trials (at least [060 as discussed above]). ;
a smart diagnostic unit linked to the processing and analytics assembly, the smart diagnostic unit configured to generate probable diagnosis based on the results obtained from the comparative analysis unit (at least [062-3,065]“In such embodiment, similarities between the patient's sequence and the control sequence are indicative of a positive diagnosis…Whereas in other embodiments, the patient's sequence is compared to a normal healthy reference sequence in order to determine abnormal variations in the patient's sequence. The changes between the patient's sequence and normal healthy sequence are then assessed to determine a developmental disorder diagnosis”); and
a network unit linking the collection and extraction unit to the processing and analytics assembly, the network unit capable of connecting to external computing resources (at least [044, claims 14, 22] computer embodiment).
In reference to claim 8:
Lapidus further teaches wherein the comparative analysis unit identifies, records, and reports matches or similarities between the identified mutation or profile with the known mutations and profiles associated with various genetic disorders retrieved form the database unit (at least [059-063] similarity matching associated with the genetic disorders, and at [029, 031-2] recording the sequencing for future use).
In reference to claim 9:
Lapidus further teaches wherein the smart diagnostic unit scores, ranks and interprets the matched data obtained from the processing and analytics assembly (at least [063-064] interpretation of matched data for diagnosis, and at [059] threshold requirement of mutations for diagnosis)..
In reference to claim 10:
Lapidus further teaches wherein the system also includes a user interface linked or integrated with the smart diagnostic unit and the user interface configured to serve as an interactive graphical user interface (at least [044, claims 14, 22] computer embodiment, PC).
Relevant Prior Art
The following prior art not relied upon is believed to be relevant:
US 20110021366 A1 to Chinitz discloses sequencing genetics to determine a diagnosis of a disorder.
US 20190325988 AI to Kingsmore discloses different means for testing/validating test results.
Response to Arguments
Applicant’s 51 pages of remarks as filed on 26 SEPT 2025 have been considered.
Applicant begins on page 5 with a discussion of 112f, including portions of the rejection. As per Applicant’s arguments that “unit” does not invoke 112f, Examiner make reference to MPEP 2181(I)A:
The following is a list of non-structural generic placeholders that may invoke 35 U.S.C. 112(f): "mechanism for," "module for," "device for," "unit for," "component for," "element for," "member for," "apparatus for," "machine for," or "system for." Welker Bearing Co., v. PHD, Inc., 550 F.3d 1090, 1096, 89 USPQ2d 1289, 1293-94 (Fed. Cir. 2008); Mass. Inst. of Tech. v. Abacus Software, 462 F.3d 1344, 1354, 80 USPQ2d 1225, 1228 (Fed. Cir. 2006); Personalized Media, 161 F.3d at 704, 48 USPQ2d at 1886–87; Mas-Hamilton Group v. LaGard, Inc., 156 F.3d 1206, 1214-1215, 48 USPQ2d 1010, 1017 (Fed. Cir. 1998). Note that there is no fixed list of generic placeholders that always result in 35 U.S.C. 112(f) interpretation, and likewise there is no fixed list of words that always avoid 35 U.S.C. 112(f) interpretation. Every case will turn on its own unique set of facts.
As noted above, “unit” clearly is a term found to possibly invoke 112f. Examiner further notes that Applicant’s remarks on pages 8-10 appear to recite what the units themselves do rather than the actual structural makeup, as required in MPEP 2181. Applicant’s remarks identifying the function of the units essentially reiterate Examiner’s position that the claims do not recite sufficient structure, nor is sufficient structure linked to the function found in the specification.
On page 10 of the remarks, Applicant begins a discussion regarding the rejection of the claims under 35 USC 112b, including a reproduction of the entire rejection. Examiner notes the amendments, and respectfully disagrees that the structure is defined/linked as required in MPEP 2181. Examiner again reiterates that there is no structure found in the claims nor the specification.
Applicant appears to switch to a discussion of the rejection under 35 USC 112a on page 13, however, again, a “computer implemented method” is not sufficient structure. Examiner suggests that Applicant amend the claims to recite the units as a part of a computer, rather than a system that may be computer implemented, to the extent supported by the specification (Examiner notes that the specification appears to only recite a computer implemented system rather than a computer/processor). Applicant continues to discuss the functional aspects of the units, and asserts structure, but does not identify what the structure is believed to be. Applicant’s recitation of the various algorithms is noted, but per MPEP 2181 II B, structure is still required to implement the algorithm itself. Examiner respectfully notes that the rejections themselves do not have bearing on the interpretation of the claims under 35 USC 112f. Applicant’s remaining remarks on pages 13-15 are again found to describe what each of the units is “doing” rather than disclosing the structure therein. As such Examiner maintains the interpretation and the associated rejections.
On page 15 Applicant begins a discussion of the rejection regarding 36 USC 101. In view of the amendments and Applicant’s remarks, Examiner has analyzed the step of extracting DNA into the additional elements analysis above. However, Examiner maintains the classification of the claims as directed to a mental process and has also added the category of certain methods of organizing human activity as noted above.
Applicant turns to a discussion of a practical application on page 17/18, again including the rejection. Examiner respectfully disagrees that claims 1 or 4 recite anything beyond, at best, a generic computer sending and receiving information. The functioning of the “computer” is not improved in any way, nor is there anything beyond a general link between the computing element(s) and the abstract idea(s) as identified. Nothing in the claims nor the specification indicates that any specialized networking or other computing elements, nor does Applicant identify any portions of the specification to refer to. On page 20-21, Applicant’s functional only discussion of the purported “special” computing environment essentially proves Examiner’s position. Essentially any computing environment can execute the claimed functions of the limitations.
Examiner respectfully disagrees with Applicant’s assertion that the claims provide for a solution to a technical challenge on page 22. The functioning of the “units” themselves is not improved, nor is there any improvement to a technical environment. The “extraction” of the DNA is not improved in any way, and the analysis process to obtain a diagnosis is admirable, but not technical for purposes of the analysis. The claims are not found to be integrated into a practical application.
Applicant turns to step 2B on page 22, again with a reproduction of the rejection into page 25. Examiner notes the remarks regarding the computer on page 25, however, is not persuaded. Examiner finds no evidence that the “computer” in claim 4 is any sort of special purpose computer, nor that the arrangement of the computer itself is anything but conventional. Applicant again refers to the “computer” in terms of capabilities/functionality only, rather than offering specific details or evidence to arrive at a finding of “significantly more.” Examiner again notes that the system is “computer implemented” in claim 4, rather than positively reciting a computer or similar hardware. A network being used to process data is not indicative of significantly more per the analysis. Examiner finds similarly with regard to Applicant’s remarks regarding the dependent claims on page 26 – Applicant is just reproducing what the computing element(s) do, rather than providing evidence of significantly more.
Applicant turns to the prior art rejection on page 27, with a synopsis of the invention on pages 27-32. Examiner believes the majority of this information to be contained within the specification, but reminds Applicant that the claims are interpreted in view of the specification. Applicant generally discusses Lapidus on pages 32, 33, and includes the rejection of claim on pages 33-35.
As per Applicants remarks on page 35/36 regarding the collection of material from “humans but also from animals and other living or dead organisms or life forms…”, Examiner respectfully submits such a limitation is not present in the claim(s) as presented. The claims do not include any language that contemplates such a distinction, nor does Lapidus explicitly limit the collection TO live humans. Examiner is unclear to what extent such a distinction would affect patentability. Similarly, Applicant’s claim does not provide for any specific means of DNA extraction contrary to the remarks on page 36. The extraction in the claim is in no way limited, and such, even if the extraction in Lapidus occurs in a different manner, it would still read on the limitation. None of the description provided on page 36 into page 37 is reflected in the claim(s).
Applicant’s remarks regarding the PCR or FISH techniques, Examiner respectfully submits that Lapidus specifically teaches these methods as being known in the art and used in the invention. Again, Examiner respectfully submits that none of the language on pages 37/38 is present in the claims and is therefore unpersuasive.
Applicant’s remarks on page 38 regarding the predictions are found unpersuasive, at least because no ranking or any other limitation language regarding the probable diagnosis is found in the claim language, and as such Lapidus is found to read on said claim limitations.
Applicant’s remarks on page 39 regarding claim 2 are found unpersuasive at least in view of the rejection of claim 1, and Examiner also notes that Applicant acquiesces claim 2 is taught by Lapidus.
Applicant’s remarks on page 40 regarding claim 3 are noted, including the rejection itself. Examiner respectfully disagrees with Applicant’s characterization of the claim and the reference; the cited portions of Lapidus disclose that this information is stored from previous research. Applicant’s remarks regarding claim 1 are found moot/unpersuasive as discussed above with regard to claim 2.
Applicant’s remarks on page 41 regarding claim 4 are noted, including the rejection itself on pages 41-44. Examiner respectfully disagrees with Applicant’s remarks regarding claim 4 for reasons largely similar to that of claim 1. Again, the description presented on claims 44, 45 is not found to be limiting in the claims themselves. For example, SNV and CNV do not appear in the claims, and it’s unclear what exactly NSG is as it would appear that it’s perhaps a typo in reference to next-generation sequencing technologies. Again, the invention as claimed is not limited in the genetic analysis as argued by Applicant. Applicant is encouraged to amend such limitations into the claims, to the extent permitted by the specification, to include such limitations contemplated by the descriptions on pages 45-47.
Applicant’s remarks regarding claim 5 are noted, however, claim 5 is canceled and as such the remarks are unpersuasive/moot. Examiner is unclear if Applicant is referencing elements of claim 5 that have been incorporated into independent claim 4, or if Applicant is arguing the merits of a canceled claim. Either way, Examiner does not find these remarks persuasive.
Similarly, Applicant’s remarks regarding canceled claim 6 on page 48 are found unpersuasive, at the very least as the clans as filed on 26 SEPT 2025 indicate claim 6 is canceled. Applicant does not provide specific remarks regarding the applicability of Lapidus to the elements of claim 6 that have been incorporated into claim 4, however Examiner again reiterates that the claim(s) are not limited to the extent Applicant argues features from the specification. Applicant does not even amend to incorporate the features of claim 6 that Examiner did not specifically indicate were taught by Lapidus into independent claim 4 (i.e. the protein function and/or cellular pathways). Examiner notes these are not features that would render the claim allowable, merely that claim 6 was written to consider these factors in the alternative, and claim 6 was incorporated into claim 4 also in the alternative.
Applicant’s remarks regarding canceled claim 7 beginning on page 49 are also found unpersuasive, at least in view of the cancellation of the claim. Examiner notes Applicant’s remarks appear to support Examiner’s position that the reference does disclose a means of diagnosing a probable disorder.
Applicant’s remarks regarding claim 8 on page 50 are noted, but found unpersuasive as Applicant appears to rely solely on dependence on claim 4. Examiner finds similarly with regard to the remarks regarding claims 9, 10, on pages 51, 52. Applicant appears to rely on the novelty or non-obviousness alleged to be in claim 4, however, in view of the above rejection Examiner respectfully disagrees. Applicant provides additional descriptive matter for both claims 9, 10 that is not present in the claim limitations themselves as presented.
Applicant’s remarks regarding the additionally cited prior art on page 53-55 are noted; Examiner notes that these references were provided as a convenience to Applicant rather than relied upon in a prior art rejection.
Conclusion
THIS ACTION IS MADE FINAL. Applicant is reminded of the extension of time policy as set forth in 37 CFR 1.136(a).
A shortened statutory period for reply to this final action is set to expire THREE MONTHS from the mailing date of this action. In the event a first reply is filed within TWO MONTHS of the mailing date of this final action and the advisory action is not mailed until after the end of the THREE-MONTH shortened statutory period, then the shortened statutory period will expire on the date the advisory action is mailed, and any nonprovisional extension fee (37 CFR 1.17(a)) pursuant to 37 CFR 1.136(a) will be calculated from the mailing date of the advisory action. In no event, however, will the statutory period for reply expire later than SIX MONTHS from the mailing date of this final action.
Any inquiry concerning this communication or earlier communications from the examiner should be directed to KATHERINE KOLOSOWSKI-GAGER whose telephone number is (571)270-5920. The examiner can normally be reached Monday - Friday.
Examiner interviews are available via telephone, in-person, and video conferencing using a USPTO supplied web-based collaboration tool. To schedule an interview, applicant is encouraged to use the USPTO Automated Interview Request (AIR) at http://www.uspto.gov/interviewpractice.
If attempts to reach the examiner by telephone are unsuccessful, the examiner’s supervisor, Mamon Obeid can be reached at 571-270-1813. The fax phone number for the organization where this application or proceeding is assigned is 571-273-8300.
Information regarding the status of published or unpublished applications may be obtained from Patent Center. Unpublished application information in Patent Center is available to registered users. To file and manage patent submissions in Patent Center, visit: https://patentcenter.uspto.gov. Visit https://www.uspto.gov/patents/apply/patent-center for more information about Patent Center and https://www.uspto.gov/patents/docx for information about filing in DOCX format. For additional questions, contact the Electronic Business Center (EBC) at 866-217-9197 (toll-free). If you would like assistance from a USPTO Customer Service Representative, call 800-786-9199 (IN USA OR CANADA) or 571-272-1000.
/KATHERINE . KOLOSOWSKI-GAGER/
Primary Examiner
Art Unit 3687
/KATHERINE KOLOSOWSKI-GAGER/Primary Examiner, Art Unit 3687