Genetic testing of genetic variants associated with the senses

Abstract

The present disclosure is related, at least in part, to methods of screening subjects, such as pediatric subjects, for sensory phenotypes. In some embodiments, the method of assessing genetic variation in a subject, comprises obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one genetic variant of a gene associated with at least one of, any combination or, or all of the sense of taste, smell, hearing, touch, and vision.

Description

[0001] GENETIC TESTING OF GENETIC VARIANTS ASSOCIATED WITH THE SENSES

[0002] RELATED APPLICATIONS

[0003] This application claims the benefit of priority under 35 U.S.C. § 119(e) to U.S. Provisional Application No. 63 / 719,042, entitled “GENETIC TESTING OF GENETIC VARIANTS ASSOCIATED WITH THE SENSES”, filed on November 11, 2024; the entire contents of which are incorporated herein by reference.

[0004] FIELD

[0005] Routine newborn screenings (NBS) screen for a limited number of conditions (e.g., approximately 35-61 conditions) and are invasive, requiring a blood draw (typically using a heel stick). NBS generally are performed at 1-2 days of age and certain states conduct additional screenings at 7-14 days of age. It can be beneficial to screen pediatric patients for sensory phenotypes (e.g., food preferences, odorant sensitivity, etc.) using non-invasive techniques to identify changes in stimuli (e.g., food, maternal diet, auditory environment, etc.)

[0006] SUMMARY

[0007] Detection of genetic variants associated with the five senses (e.g., taste, smell, sound, sight, and touch) before children develop language and communication can help caretakers identify what their children’s preferences may be. For example, identifying a genetic variant indicating a child is sensitive to the bitter taste of brussels sprouts and cauliflower can help parents determine if their child prefers brussels sprouts and cauliflower. In a further example, maternal dietary intake of bitter vegetables can be passed into breastmilk and affect how the child tastes the breastmilk if the child has a genetic variant that sensitizes them to bitter vegetables. Accordingly, some aspects of the present disclosure relate to methods of assessing genetic variation in a subject, comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one genetic variant of a gene associated with at least one of, any combination of, or all of the sense of taste, smell, hearing, touch and vision.

[0008] In some embodiments of any one of the methods provided herein, the subject is a pediatric subject. In some embodiments, the subject is a healthy-appearing subject. In some embodiments of any one of the methods provided herein, the sample is collected with a non-invasive test. In some embodiments of any one of the methods provided herein, the sample is a cheek swab.

[0009] In some embodiments of any one of the methods provided herein, the gene is one or more of, any combination of, or all of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PLCB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, 0R5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, 0R11A1, 0R2W1, OR2A5, 0R6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, 0PN1EW, 0PN1MW and any other of the relevant genes provided herein, such as in Table 1.

[0010] In some embodiments of any one of the methods provided herein, the at least one genetic variant of the gene indicates a sensory phenotype in the subject. In some embodiments of any one of the methods provided herein, the sensory phenotype is one or more of, any combination of, or all of the sensory phenotypes provided herein, such as in Table 1.

[0011] In some embodiments of any one of the methods provided herein, the method is repeated. In some embodiments of any one of the methods provided herein, the method is repeated monthly, quarterly, or yearly.

[0012] In one embodiment of any one of the methods provided herein, the results are provided in a report. In one aspect, such a report is provided herein. In one embodiment of any one of the reports provided, the report is given in electronic form. In one embodiment of any one of the reports provided, the report is a hard copy. In one embodiment of any one of the reports provided, the report is given orally.

[0013] BRIEF DESCRIPTION OF DRAWINGS

[0014] FIG. 1 is an exemplary schematic of instructions provided in a kit for sample collection. The instructions include before swabbing and how to perform the cheek swab for parents, guardians, or adults administering the cheek swab to a subject.

[0015] FIGs. 2A-2B is an exemplary schematic of test results. A summary of the outcome of the genetic testing, next steps, and other information for a subject where sensory traits are identified is shown in FIG. 2A, and the senses, sensory trait, and results tested are reported in FIG. 2B. DETAILED DESCRIPTION

[0016] The present disclosure provides, in some aspects, methods of assessing genetic variation(s) in a subject comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one genetic variant of a gene associated with at least one, two, three, four or all of the five senses (i.e., taste, smell, hearing, touch, and vision). In some embodiments of any one of the methods provided herein, the methods described herein may be used to screen for a sensory phenotype in a subject. Examples of genes and genetic variants associated with the at least one of the five senses may be found in Table 1. The methods described herein can be used to select variants for screening subjects for preferences associated with at least one, two, three, four or all of the five senses.

[0017] In some embodiments of any one of the methods provided herein, the methods of the present disclosure relate to assessing genetic variation in a subject based on the combination of the presence or absence of at least one genetic variant of a gene associated with the at least one of the five senses and the presence or absence of at least one pathogenic variant or a likely pathogenic variant for a disease, such as each disease in a set of diseases.

[0018] In some embodiments of any one of the methods provided herein, the methods described herein may be used to detect genetic variants associated with at least one sensory phenotype. Such genetic variants may be used to identify preferences associated with the five senses in newborns, infants, and children. In some embodiments of any one of the methods provided herein, detection of genetic variants associated with a sensory phenotype, such as those that identify preferences associated with the five senses, is performed before the newborns, infants, and children are verbal. In some embodiments of any one of the methods provided herein, detection of genetic variants associated with sensory phenotypes, such as those that identify preferences associated with the five senses, may inform decisions regarding food preferences. In some embodiments of any one of the methods provided herein, detection of genetic variants associated with sensory phenotypes, such as those that identify preferences associated with the five senses, may inform decisions regarding maternal dietary intake (e.g., bitter vegetables) that can be passed into breastmilk.

[0019] In some embodiments of any one of the methods provided herein, detection of genetic variants associated with sensory phenotypes, such as those that identify preferences associated with smell, may inform a subject’s ability to detect odors or odor preferences (e.g., smell asparagus in urine, smell onions and / or garlic, small floral scents). In some embodiments of any one of the methods provided herein, detection of genetic variants associated with sensory phenotypes, such as those that identify preferences associated with hearing, may inform a subject’s preference for sounds (e.g., sound of chewing or musical aptitude). In some embodiments of any one of the methods provided herein, detection of genetic variants associated with sensory phenotypes, such as those that identify preferences associated with vision, may inform a subject’s visual ability (e.g., color blindness).

[0020] In some embodiments of any one of the methods provided herein, in any of the methods provided herein, the method further comprises taking an intervention step when the subject is determined to have a sensory phenotype for one or more or any combination of the senses provided herein. In one embodiment of any one of the methods provided herein, the intervention step is a therapeutic or treatment step, administering, recommending or prescribing a therapeutic or treatment to the subject. In another embodiment of any one of the methods provided herein, the intervention step is a preventative step, administering or suggesting that preventative steps be taken for the subject. In another embodiment of any one of the methods provided herein, the intervention step is monitoring or putting the subject under surveillance for a period of time. Such monitoring or surveillance can include, but is not limited to, periodic further evaluations or testing of the subject. In another embodiment of any one of the methods provided herein, the intervention step is adjusting the diet of the subject. In another embodiment of any one of the methods provided herein, the intervention step is adjusting the exposure of the subject, such as to certain foods, odors or sounds. In another embodiment of any one of the methods provided herein, the subject is evaluated or monitored for one or more symptoms. For example, a subject may be evaluated or monitored for one or more symptoms, such as of color blindness. In another embodiment of any one of the methods provided herein, the subject is evaluated with one or more other tests, such as for relevant condition(s), disorder(s) or disease(s).

[0021] In one embodiment of any one of the methods provided herein, the results are provided in a report and / or the intervention step(s) taken are based on results given in a report. Reports may be in oral, written (or hard copy) or electronic form, such as in a form that can be visualized or displayed. In some embodiments, the “raw” results for each assay as provided herein are provided in a report, and from this report, further steps can be taken. Any one of the individuals as provided herein may assess the need for an intervention for the subject or the need to monitor the subject over time. Accordingly, in any one of the methods provided herein, the method can include assessing the subject at another point in time. Such assessing can be performed with any one of the methods provided herein. Senses and Sensory Phenotypes

[0022] In some embodiments of any one of the methods provided herein, the present disclosure provides methods of assessing the presence or absence of at least one genetic variant of a gene associated with at least one of the five senses. As described herein, the “five senses” refer to those processed by the five sensory systems (i.e., visual, auditory, olfactory, gustatory, tactile). Sensory systems are used by the brain to gather and interpret information. As described herein, the term “vision” refers to the system that senses visual stimuli and is processed by the visual system. As described herein, the term “hearing” refers to the system that senses sound stimuli and is processed by the auditory system. As described herein, the term “smell” refers to the system that senses chemical stimuli or odorants and is processed by the olfactory system. As described herein, the term “taste” refers to the system that senses taste and is processed by the gustatory system. As described herein, term “touch” refers to the system that senses tactile stimuli and is processed by the tactile system.

[0023] In some embodiments of any one of the methods provided herein, the at least one sense is of one or more (e.g., one or more, two or more, three or more, or four or more) of the five sensory systems. In some embodiments of any one of the methods provided herein, the at least one sense is any combination of taste, smell, hearing, touch and vision. In some embodiments of any one of the methods provided herein, the at least one sense is all of taste, smell, hearing, touch, and vision. In some embodiments of any one of the methods provided herein, the at least one sense is taste. In some embodiments of any one of the methods provided herein, the at least one sense is smell. In some embodiments of any one of the methods provided herein, the at least one sense is hearing. In some embodiments of any one of the methods provided herein, the at least one sense is touch. In some embodiments of any one of the methods provided herein, the at least one sense is vision.

[0024] In some embodiments of any one of the methods provided herein, the method comprises assessing the presence or absence of at least one genetic variant of a gene associated with at least one sense. In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is a gene associated with taste, smell, hearing, touch or vision.

[0025] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is a gene associated with taste. In some embodiments of any one of the methods provided herein, the gene associated with taste is one or more (e.g., 1 or more, 2 or more, 3 or more, 4 or more, 5 or more, 6 or more, 7 or more, 8 or more, 9 or more, 10 or more, 11 or more, 12 or more, 13 or more, 14 or more, 15 or more, 16 or more, 17 or more, 18 or more, 19 or more, 20 or more, 21 or more, 22 or more, 23 or more, or 24 or more) of taste 2 receptor member 38 (TAS2R38; NCBI Gene ID: 5726), taste 2 receptor member 16 (TAS2R16; NCBI Gene ID: 50833), taste 2 receptor member 19 (TAS2R19; NCBI Gene ID: 259294), taste 1 receptor member 2 (TAS1R2; NCBI Gene ID: 80834), phospholipase C beta 2 (PLCB2; NCBI Gene ID: 5330), inositol 1,4,5-trisphosphate receptor type 3 (ITPR3; NCBI Gene ID: 3710), olfactory receptor family 6 subfamily A member 2 (OR6A2; NCBI Gene ID: 8590), angiotensin I converting enzyme (ACE; NCBI Gene ID: 1636), adrenoceptor beta 3 (ADRB3; NCBI Gene ID: 155), angiotensinogen (AGT; NCBI Gene ID: 183), adiponectin, C1Q and collagen domain containing (ADIPOQ; NCBI Gene ID: 9370), taste 2 receptor member 43 (TAS2R43; NCBI Gene ID: 259289), taste 1 receptor member 1 (TAS1R1; NCBI Gene ID: 80835), polycystin 1 like 3, transient receptor potential channel interacting (PKD1L3; NCBI Gene ID: 342372), taste 2 receptor member 31 (TAS2R31; NCBI Gene ID: 259290), catechol-O-methyltransferase (COMT; NCBI Gene ID: 1312), taste 2 receptor member 1 (TAS2R1; NCBI Gene ID: 50834), taste 2 receptor member 4 (TAS2R4; NCBI Gene ID: 50832), taste 2 receptor member 14 (TAS2R14; NCBI Gene ID: 50840), FTO alpha-ketoglutarate dependent dioxygenase (FTO; NCBI Gene ID: 79068), transient receptor potential cation channel subfamily V member 1 (TRPV1; NCBI Gene ID: 7442), aldehyde dehydrogenase 2 family member (AEDH2; NCBI Gene ID: 217), caveolin 1 (CAV1; NCBI Gene ID: 857), protein tyrosine phosphatase receptor type N2 (PTPRN2; NCBI Gene ID: 5799), and solute carrier family 4 member 5 (SEC4A5; NCBI Gene ID: 57835).

[0026] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is a gene associated with smell. In some embodiments of any one of the methods provided herein, the gene associated with smell is one or more (e.g., 1 or more, 2 or more, 3 or more, 4 or more, 5 or more, 6 or more, 7 or more, 8 or more, 9 or more, 10 or more, 11 or more, 12 or more, 13 or more, 14 or more, 15 or more, 16 or more, 17 or more, 18 or more, 19 or more, or 20 or more) of olfactory receptor family 4 subfamily D member 6 (OR4D6; NCBI Gene ID: 219983), olfactory receptor family 51 subfamily B member 2 (OR51B2; NCBI Gene ID: 79345), olfactory receptor family 5 subfamily A member 1 (OR5A1; NCBI Gene ID: 219982), olfactory receptor family 7 subfamily D member 4 (OR7D4; NCBI Gene ID: 125958), olfactory receptor family 2 subfamily J member 3 (OR2J3; NCBI Gene ID: 442186), trace amine associated receptor 4,(TAAR4P; NCBI Gene ID: 503612), olfactory receptor family 6 subfamily C member 70 (OR6C70; NCBI Gene ID: 390327), hemoglobin subunit gamma 2 (HBG2; NCBI Gene ID: 3048), olfactory receptor family 10 subfamily J member 5 (OR10J5; NCBI Gene ID: 127385), olfactory receptor family 11 subfamily A member 1 (OR11A1; NCBI Gene ID: 26531), olfactory receptor family 2 subfamily W member 1 (0R2W1; NCBI Gene ID: 26692), olfactory receptor family 2 subfamily A member 5 (OR2A5; NCBI Gene ID: 393046), olfactory receptor family 6 subfamily Y member 1 (OR6Y1; NCBI Gene ID: 391112), olfactory receptor family 2 subfamily A member 25 (OR2A25; NCBI Gene ID: 392138), olfactory receptor family 10 subfamily G member 4 (OR10G4; NCBI Gene ID: 390264), olfactory receptor family 10 subfamily Z member 1 (OR10Z1; NCBI Gene ID: 128368), olfactory receptor family 10 subfamily C member 1 (OR10C1; NCBI Gene ID: 442194), olfactory receptor family 6 subfamily B member 2 (OR6B2; NCBI Gene ID: 389090), olfactory receptor family 5 subfamily F member 1 (OR5F1; NCBI Gene ID: 338674), olfactory receptor family 8 subfamily A member 1 (OR8A1; NCBI Gene ID: 390275), and olfactory receptor family 2 subfamily M member 7 (OR2M7; NCBI Gene ID: 391196).

[0027] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is a gene associated with hearing. In some embodiments of any one of the methods provided herein, the gene associated with hearing is one or more (e.g., 1 or more, or 2 or more) of teneurin transmembrane protein 2 (TENM2; NCBI Gene ID: 57451), GATA binding protein 2 (GATA2; NCBI Gene ID: 2624), and brain derived neurotrophic factor (BDNF; NCBI Gene ID: 627) .

[0028] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is a gene associated with touch. In some embodiments of any one of the methods provided herein, the gene associated with touch is sodium voltage-gated channel alpha subunit 9 (SCN9A; NCBI Gene ID: 6335).

[0029] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is a gene associated with vision. In some embodiments of any one of the methods provided herein, the gene associated with vision is one or more (e.g., 1 or more, or 2 or more) of opsin 1, short wave sensitive (OPN1SW; NCBI Gene ID: 611), opsin 1, long wave sensitive (OPN1LW; NCBI Gene ID: 5956), opsin 1, medium wave sensitive (0PN1MW; NCBI Gene ID: 2652).

[0030] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is at least one (e.g., at least 1, at least 2, at least 3, at least 4, at least 5, at least 6, at least 7, at least 8, at least 9, at least 10, at least 11, at least 12, at least 13, at least 14, at least 15, at least 16, at least 17, at least 18, at least 19, at least 21, at least 22, at least 23, at least 24, at least 25, at least 26, at least 27, at least 28, at least 29, at least 30, at least 31, at least 32, at least 33, at least 34, at least 35, at least 36, at least 37, at least 38, at least 39, at least 40, at least 41, at least 42, at least 43, at least 44, at least 45, at least 46, at least 47, at least 48, at least 49, at least 50, at least 51, or at least 52) of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PLCB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, OR5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, OR11A1, OR2W1, OR2A5, OR6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, OPN1EW, OPN1MW, and any other list of relevant genes provided herein, such as in Table 1.

[0031] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is one or more (e.g., 1 or more, 2 or more, 3 or more, 4 or more, 5 or more, 6 or more, 7 or more, 8 or more, 9 or more, 10 or more, 11 or more, 12 or more, 13 or more, 14 or more, 15 or more, 16 or more, 17 or more, 18 or more, 19 or more, 21 or more, 22 or more, 23 or more, 24 or more, 25 or more, 26 or more, 27 or more, 28 or more, 29 or more, 30 or more, 31 or more, 32 or more, 33 or more, 34 or more, 35 or more, 36 or more, 37 or more, 38 or more, 39 or more, 40 or more, 41 or more, 42 or more, 43 or more, 44 or more, 45 or more, 46 or more, 47 or more, 48 or more, 49 or more, 50 or more, 51 or more, or 52 or more) of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PECB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, OR5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, OR11A1, OR2W1, OR2A5, OR6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, OPN1EW, OPN1MW, and any other list of relevant genes provided herein, such as in Table 1.

[0032] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is any combination of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PECB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1E3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, AEDH2, CAV1, PTPRN2, SEC4A5, OR4D6, OR51B2, OR5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, OR11A1, OR2W1, OR2A5, OR6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, OPN1EW, OPN1MW and any other list of relevant genes provided herein, such as in Table 1.

[0033] In some embodiments of any one of the methods provided herein, the gene associated with at least one sense is all of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PECB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, OR5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, OR11A1, 0R2W1, OR2A5, OR6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, OPN1EW, 0PN1MW and any other list of relevant genes provided herein, such as in Table 1.

[0034] In some embodiments of any one of the methods provided herein, the presence or absence of the at least one genetic variant of a gene associated with at least one sense indicates a phenotype in the subject. In some embodiments of any one of the methods provided herein, a phenotype is a sensory phenotype.

[0035] In some embodiments of any one of the methods provided herein, the sensory phenotype is associated with taste. In some embodiments of any one of the methods provided herein, the sensory phenotype associated with taste is bitter taste in Brussel sprouts, bitter taste in kale, bitter taste in cauliflower, bitter taste in broccoli, bitter taste in spinach, bitter taste in kale, preference for beets, coffee bitterness, grapefruit juice bitterness, grapefruit juice liking, liking beet, liking lamb meat, liking tea, lower liking of lamb meat, lower liking of sheep cheese, cilantro preference, preference for potato, preference for sweet potato, preference for beans, preference for rice, preference for bread, preference for noodles, preference for soba, preference for fish, preference for shellfish, preference for small fish, preference for meat, preference for eggs, preference for milk, preference for dairy products, preference for brightly collared vegetables, preference for confectionery, coffee liking, adventurous eater, bitterness of quinine, liking of grapefruit juice, liking of unsweetened grapefruit juice, liking of healthy foods, vegetable liking, liking of sugars, dietary salt intake, preference of salty foods, taste preference for sweetness, liking of alcoholic beverages, liking of sweet foods, preference for sugary foods, preference for breakfast cereals, preference for sweets-pastries, preference for ice creams, preference for chocolates, or preference for sugar.

[0036] In some embodiments of any one of the methods provided herein, the sensory phenotype is associated with smell. In some embodiments of any one of the methods provided herein, the sensory phenotype associated with smell is decrease in intensity of galaxolide, decrease in intensity of musk odor, decrease in intensity of 3M2H, decrease in intensity of body odor, decrease in intensity of P-ionone, decrease in intensity of floral odor, decrease in intensity of violet odor, decrease in intensity of androstenone, decrease in intensity of foul odor, decrease in intensity of sweet odor, decrease in intensity of floral odor, undetectable androsterone, undetectable Cis-3hexen-l-ol, undetectable green or grassy odor, undetectable trimethylamine, undetectable fishy odor, increase in intensity of licorice odor, decrease in intensity of cinnamon odor, decrease intensity of bourgenol, decrease intensity of floral odor, decrease intensity of lily of the valley odor, decrease intensity of 2-ethyl fenchone, decrease intensity of fenchol, decrease intensity of earthy odor, increase in intensity of caproic acid, increase in intensity of cheesy odor, increase in intensity of fatty odor, increase in intensity of citronella, increase in intensity of lemony-grassy odor, decrease in intensity of diacetyl, decrease in intensity of buttery odor, decrease in intensity of guaiacol, decrease in intensity of smoky odor, decrease in intensity of clove-like odor, decrease in intensity of vanilla-like odor, decrease in intensity of isobutyraldehyde, decrease in intensity of pungent odor, increase in intensity of orange odor, increase in intensity of paraffin oil odor, increase in intensity of onion and / or garlic odor, decrease in intensity of onion and / or garlic odor, decrease in intensity of asparagus urine odor, or increase in intensity of asparagus urine odor.

[0037] In some embodiments of any one of the methods provided herein, the sensory phenotype is associated with hearing. In some embodiments of any one of the methods provided herein, the sensory phenotype associated with hearing is misophonia, or dislike of sound of chewing, increase in musical aptitude, decrease in musical aptitude, or normal musical aptitude.

[0038] In some embodiments of any one of the methods provided herein, the sensory phenotype is associated with touch. In some embodiments of any one of the methods provided herein, the sensory phenotype associated with touch is insensitivity to pain.

[0039] In some embodiments of any one of the methods provided herein, the sensory phenotype is associated with vision. In some embodiments of any one of the methods provided herein, the sensory phenotype associated with vision is blue color blindness or red- green color blindness, or normal vision (e.g., not likely color blind).

[0040] In some embodiments of any one of the methods provided herein, the sensory phenotype is one or more of bitter taste in Brussel sprouts, bitter taste in kale, bitter taste in cauliflower, bitter taste in broccoli, bitter taste in spinach, bitter taste in kale, preference for beets, coffee bitterness, grapefruit juice bitterness, grapefruit juice liking, liking beet, liking lamb meat, liking tea, lower liking of lamb meat, lower liking of sheep cheese, cilantro preference, preference for potato, preference for sweet potato, preference for beans, preference for rice, preference for bread, preference for noodles, preference for soba, preference for fish, preference for shellfish, preference for small fish, preference for meat, preference for eggs, preference for milk, preference for dairy products, preference for brightly collared vegetables, preference for confectionery, coffee liking, adventurous eater, bitterness of quinine, liking of grapefruit juice, liking of unsweetened grapefruit juice, liking of healthy foods, vegetable liking, liking of sugars, dietary salt intake, preference of salty foods, taste preference for sweetness, liking of alcoholic beverages, liking of sweet foods, preference for sugary foods, preference for breakfast cereals, preference for sweets-pastries, preference for ice creams, preference for chocolates, preference for sugar, decrease in intensity of galaxolide, decrease in intensity of musk odor, decrease in intensity of 3M2H, decrease in intensity of body odor, decrease in intensity of P-ionone, decrease in intensity of floral odor, decrease in intensity of violet odor, decrease in intensity of androstenone, decrease in intensity of foul odor, decrease in intensity of sweet odor, decrease in intensity of floral odor, undetectable androsterone, undetectable Cis-3hexen-l-ol, undetectable green or grassy odor, undetectable trimethylamine, undetectable fishy odor, increase in intensity of licorice odor, decrease in intensity of cinnamon odor, decrease intensity of bourgenol, decrease intensity of floral odor, decrease intensity of lily of the valley odor, decrease intensity of 2-ethyl fenchone, decrease intensity of fenchol, decrease intensity of earthy odor, increase in intensity of caproic acid, increase in intensity of cheesy odor, increase in intensity of fatty odor, increase in intensity of citronella, increase in intensity of lemony-grassy odor, decrease in intensity of diacetyl, decrease in intensity of buttery odor, decrease in intensity of guaiacol, decrease in intensity of smoky odor, decrease in intensity of clove-like odor, decrease in intensity of vanilla-like odor, decrease in intensity of isobutyraldehyde, decrease in intensity of pungent odor, increase in intensity of orange odor, increase in intensity of paraffin oil odor, increase in intensity of onion and / or garlic odor, decrease in intensity of onion and / or garlic odor, decrease in intensity of asparagus urine odor, increase in intensity of asparagus urine odor, misophonia, dislike of sound of chewing, increase in musical aptitude, decrease in musical aptitude, normal musical aptitude, insensitivity to pain, blue color blindness, normal vision (e.g., not likely color blind), and any other sensory phenotype provided herein, such as in Table 1.

[0041] In some embodiments of any one of the methods provided herein, the sensory phenotype is any combination of bitter taste in Brussel sprouts, bitter taste in kale, bitter taste in cauliflower, bitter taste in broccoli, bitter taste in spinach, bitter taste in kale, preference for beets, coffee bitterness, grapefruit juice bitterness, grapefruit juice liking, liking beet, liking lamb meat, liking tea, lower liking of lamb meat, lower liking of sheep cheese, cilantro preference, preference for potato, preference for sweet potato, preference for beans, preference for rice, preference for bread, preference for noodles, preference for soba, preference for fish, preference for shellfish, preference for small fish, preference for meat, preference for eggs, preference for milk, preference for dairy products, preference for brightly collared vegetables, preference for confectionery, coffee liking, adventurous eater, bitterness of quinine, liking of grapefruit juice, liking of unsweetened grapefruit juice, liking of healthy foods, vegetable liking, liking of sugars, dietary salt intake, preference of salty foods, taste preference for sweetness, liking of alcoholic beverages, liking of sweet foods, preference for sugary foods, preference for breakfast cereals, preference for sweets-pastries, preference for ice creams, preference for chocolates, preference for sugar, decrease in intensity of galaxolide, decrease in intensity of musk odor, decrease in intensity of 3M2H, decrease in intensity of body odor, decrease in intensity of P-ionone, decrease in intensity of floral odor, decrease in intensity of violet odor, decrease in intensity of androstenone, decrease in intensity of foul odor, decrease in intensity of sweet odor, decrease in intensity of floral odor, undetectable androsterone, undetectable Cis-3hexen-l-ol, undetectable green or grassy odor, undetectable trimethylamine, undetectable fishy odor, increase in intensity of licorice odor, decrease in intensity of cinnamon odor, decrease intensity of bourgenol, decrease intensity of floral odor, decrease intensity of lily of the valley odor, decrease intensity of 2-ethyl fenchone, decrease intensity of fenchol, decrease intensity of earthy odor, increase in intensity of caproic acid, increase in intensity of cheesy odor, increase in intensity of fatty odor, increase in intensity of citronella, increase in intensity of lemony-grassy odor, decrease in intensity of diacetyl, decrease in intensity of buttery odor, decrease in intensity of guaiacol, decrease in intensity of smoky odor, decrease in intensity of clove-like odor, decrease in intensity of vanilla-like odor, decrease in intensity of isobutyraldehyde, decrease in intensity of pungent odor, increase in intensity of orange odor, increase in intensity of paraffin oil odor, increase in intensity of onion and / or garlic odor, decrease in intensity of onion and / or garlic odor, decrease in intensity of asparagus urine odor, increase in intensity of asparagus urine odor, misophonia, dislike of sound of chewing, increase in musical aptitude, decrease in musical aptitude, normal musical aptitude, insensitivity to pain, blue color blindness, red- green color blindness, normal vision (e.g., not likely color blind), and any other sensory phenotype provided herein, such as in Table 1.

[0042] In some embodiments of any one of the methods provided herein, the sensory phenotype is all of bitter taste in Brussel sprouts, bitter taste in kale, bitter taste in cauliflower, bitter taste in broccoli, bitter taste in spinach, bitter taste in kale, preference for beets, coffee bitterness, grapefruit juice bitterness, grapefruit juice liking, liking beet, liking lamb meat, liking tea, lower liking of lamb meat, lower liking of sheep cheese, cilantro preference, preference for potato, preference for sweet potato, preference for beans, preference for rice, preference for bread, preference for noodles, preference for soba, preference for fish, preference for shellfish, preference for small fish, preference for meat, preference for eggs, preference for milk, preference for dairy products, preference for brightly collared vegetables, preference for confectionery, coffee liking, adventurous eater, bitterness of quinine, liking of grapefruit juice, liking of unsweetened grapefruit juice, liking of healthy foods, vegetable liking, liking of sugars, dietary salt intake, preference of salty foods, taste preference for sweetness, liking of alcoholic beverages, liking of sweet foods, preference for sugary foods, preference for breakfast cereals, preference for sweets-pastries, preference for ice creams, preference for chocolates, preference for sugar, decrease in intensity of galaxolide, decrease in intensity of musk odor, decrease in intensity of 3M2H, decrease in intensity of body odor, decrease in intensity of P-ionone, decrease in intensity of floral odor, decrease in intensity of violet odor, decrease in intensity of androstenone, decrease in intensity of foul odor, decrease in intensity of sweet odor, decrease in intensity of floral odor, undetectable androsterone, undetectable Cis-3hexen-l-ol, undetectable green or grassy odor, undetectable trimethylamine, undetectable fishy odor, increase in intensity of licorice odor, decrease in intensity of cinnamon odor, decrease intensity of bourgenol, decrease intensity of floral odor, decrease intensity of lily of the valley odor, decrease intensity of 2-ethyl fenchone, decrease intensity of fenchol, decrease intensity of earthy odor, increase in intensity of caproic acid, increase in intensity of cheesy odor, increase in intensity of fatty odor, increase in intensity of citronella, increase in intensity of lemony-grassy odor, decrease in intensity of diacetyl, decrease in intensity of buttery odor, decrease in intensity of guaiacol, decrease in intensity of smoky odor, decrease in intensity of clove-like odor, decrease in intensity of vanilla-like odor, decrease in intensity of isobutyraldehyde, decrease in intensity of pungent odor, increase in intensity of orange odor, increase in intensity of paraffin oil odor, increase in intensity of onion and / or garlic odor, decrease in intensity of onion and / or garlic odor, decrease in intensity of asparagus urine odor, increase in intensity of asparagus urine odor, misophonia, dislike of sound of chewing, increase in musical aptitude, decrease in musical aptitude, normal musical aptitude, insensitivity to pain, blue color blindness, red- green color blindness, normal vision (e.g., not likely color blind), and any other sensory phenotype provided herein, such as in Table 1.

[0043] Table 1. Exemplary sensory phenotypes, genes, and genetic variants

[0044]

[0045]

[0046]

[0047] Interventions for Sensory Phenotypes

[0048] In some embodiments of any one of the methods provided herein, the present disclosure provides methods of assessing genetic variation in a subject associated with the senses. In some embodiments of any one of the methods provided herein, the method further comprises taking an intervention step when the subject is determined to have a sensory phenotype for any one or more or combination of the senses (e.g., taste, smell, hearing, touch, and vision) provided herein. In some embodiments of any one of the methods provided herein, the intervention step is performed by the subject, a clinician, a parent or guardian, a sibling, or an adult in the environment of the subject.

[0049] In some embodiments of any one of the methods provided herein, the intervention step includes further testing the subject for the sensory phenotype. For example, a non-taster of bitter tastes may be further tested with phenylthiocarbamide (PTC) testing strips to confirm the presence of the sensory phenotype of non-taster of bitter tastes. In another example, a subject having a preference for salty foods may be interviewed to confirm enjoyment of salty foods (e.g., salty snacks). In some embodiments of any one of the methods provided herein, if a subject is further tested and confirmed to have the presence of the sensory phenotype, additional family members (e.g., siblings) may also be tested for the presence of the sensory phenotype.

[0050] In some embodiments of any one of the methods provided herein, the intervention step is a therapeutic or treatment step, administering, recommending or prescribing a therapeutic or treatment to treat the subject. For example, a subject identified as having a sensory phenotype associated with color blindness may be prescribed tinted lenses or contact lenses that can help filter out specific wavelengths of light, making it easier to distinguish certain colors.

[0051] In some embodiments of any one of the methods provided herein, the intervention step is a preventative step, administering or suggesting that preventative steps be taken for the subject. For example, a subject identified as having a sensory phenotype of misophonia (i.e., dislike of sound of chewing) may take preventative steps, such as making lifestyle adjustments (e.g., creating sound-free zones at home, using noise-canceling headphones or earplugs, and employing sound masking with white noise or music).

[0052] In some embodiments of any one of the methods provided herein, the intervention step is monitoring or putting the subject under surveillance or recommending the monitoring or surveillance of the subject. In some embodiments of any one of the methods provided herein, the subject is monitored or put under surveillance for a period of time (e.g., 1 day, 10 days, 30 days, 60 days, 120 days, or 360 days). Such monitoring or surveillance may include, but is not limited to, periodic further evaluations or testing of the subject. In some embodiments of any one of the methods provided herein, the periodic further evaluations may be hourly, daily, monthly or yearly.

[0053] In some embodiments of any one of the methods provided herein, the intervention step is adjusting the environment or lifestyle (such as diet) of the subject or recommending such an adjustment. For example, a subject identified as having a higher than normal preference for sweet taste may reduce sugar intake, consume more naturally sweet foods (e.g., apples, bananas, or mangos), limit intake of sweetened beverages, or balance sweet meals with protein and fiber. In some embodiments of any one of the methods provided herein, to adjust the diet of the subject, parents or any one of the other individuals provided herein, may delay the introduction of or avoid the preferred item, such as added sugars until at least 12 months of age. In some embodiments of any one of the methods provided herein, to adjust the diet of the subject, sweetened drinks and desserts early in infancy are avoided. In some embodiments of any one of the methods provided herein, to adjust the diet of the subject, the parents or any one of the other individuals provided herein may offer a nonpreferred item or an item to which the subject has a sensitivity, such as vegetables, proteins, and whole grains, for example, when solids are introduced to the subject, such as an infant. In another example, a subject identified as having a moderate sensitivity to an item, such as bitter taste, may be repeatedly exposed to the item, such as bitter greens, such as once solid foods are introduced to the subject, such as at around six months of age.

[0054] In some embodiments of any one of the methods provided herein, the intervention step is adjusting the exposure of the subject to an item (or recommending such adjustment), such as certain tastes, visual stimuli, touch stimuli, odors or sounds. For example, a subject identified as having a decrease in sensitivity to floral smell may reduce exposure to strong perfume and cologne. In some embodiments of any one of the methods provided herein, if the subject has heightened sensitivity to an item, such as floral scents, parents or any one of the other individuals provided herein may maintain neutral- scents at home (e.g., by using unscented or hypoallergenic products for laundry, soaps, and lotions, and avoiding air fresheners, scented candles, and room sprays). In some embodiments of any one of the methods provided herein, if a subject has heightened sensitivity to an item, such as floral scents, parents or any one of the other individuals provided herein near the subject may reduce the use of wearing perfume or cologne around the child.

[0055] In some embodiments of any one of the methods provided herein, the intervention step is exposing or increasing the exposure of an item (or recommending such exposure or increase in exposure) to a subject, such as to tolerize the subject to the item.

[0056] In some embodiments of any one of the methods provided herein, the intervention step is increasing the frequency of exposure of an item (or recommending such increased frequency in exposure) to a subject, such as to tolerize the subject to the item. In some embodiments of any one of the methods provided herein, the intervention step is delaying exposure of an item (or recommending such delay in exposure) to a subject.

[0057] In some embodiments of any one of the methods provided herein, the intervention step is not exposing or decreasing the exposure of an item (or recommending such avoidance or decrease in exposure) to a subject.

[0058] In some embodiments of any one of the methods provided herein, the intervention step is evaluating the subject or monitoring the subject (or recommending that such evaluating or monitoring be performed) for one or more symptoms. For example, a subject may be evaluated or monitored for one or more symptoms of color blindness. In another embodiment of any one of the methods provided herein, the subject is evaluated with one or more other tests for the relevant condition, disorder or disease.

[0059] In an embodiment of any one of the methods provided herein, the method includes taking any one of the foregoing steps or recommending taking any one of the foregoing steps. In an embodiment, such steps are taken or recommended based on the results of any one of the methods provided herein.

[0060] As described herein, the term “condition” refers to a state of a subject, such as of health, that may impact, modify or interfere with experiences, usual activities, enjoyment or feeling of well-being. As described herein, the term “disorder” refers to a disruption of ideal, normal or regular functions in the body or a part of the body. As described herein, the term “disease” refers to a pathophysiological response to external or internal factors.

[0061] In some embodiments of any one of the methods provided herein, a disease can be diagnosed by a healthcare professional or a test. In some embodiments of any one of the methods provided herein, a disease can be diagnosed by a healthcare professional and a test. In some embodiments of any one of the methods provided herein, a disease can be diagnosed by a healthcare professional and / or a test. In some embodiments of any one of the methods provided herein, the healthcare professional is a doctor, a nurse, a physician assistant, or a genetic counselor. In some embodiments of any one of the methods provided herein, the test is a medical test. In some embodiments of any one of the methods provided herein, the medical test is a medical procedure that can detect, diagnose, or monitor diseases, disease processes, or susceptibility.

[0062] In some embodiments of any one of the methods provided herein, a condition, disorder or disease can be treated, monitored, prevented, or improved in a symptom using an intervention or a therapeutic. In some embodiments, the terms “treat”, “treatment” or “treating” refers to both therapeutic and prophylactic treatments. If the subject is in need of treatment of a disease, “treating” refers to ameliorating, reducing, or eliminating one or more symptoms associated with or preventing any further progression of the disease.

[0063] As described herein, the term “predisposition” refers to an increased likelihood of having or developing a condition, disorder or disease. In some embodiments of any one of the methods provided herein, a predisposition is a genetic predisposition. As described herein, the term “genetic predisposition” refers to an increased chance that a person has or will develop a condition, disorder or disease based on their genetic makeup. Examples of genetic makeup include, but are not limited to, the genotype of an organism, an organism’s complete set of genes, or refer to alleles or variant forms of a gene that are carried by an organism.

[0064] Methods of Sample Collection

[0065] Some aspects of the present disclosure relate to a method of assessing genetic variation in a subject associated with at least one of the five senses in a subject, comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one genetic variant of a gene associated with at least one of the five senses.

[0066] In some embodiments of any one of the methods provided herein, the present disclosure relates to a method of assessing genetic variation in a subject associated with at least one of the five senses in combination with assessing genetic predisposition to a disease, such as a set of diseases in a subject, comprising obtaining a sample from the subject, collecting genetic material from the sample, and the presence or absence of at least one genetic variant of a gene associated with at least one of the five senses and the presence or absence of at least one pathogenic variant or a likely pathogenic variant for the disease, such as each disease in a set of diseases.

[0067] In some embodiments obtaining a sample from the subject comprises collecting a sample from the subject that comprises genetic material. Examples of samples include, but are not limited to cheek swab, saliva, blood, hair, skin, or other samples that contain genetic information. In some embodiments, the sample is a cheek swab. In some embodiments, the sample is saliva. In some embodiments, the sample is blood. In some embodiments, the sample is hair. In some embodiments, the sample is skin.

[0068] In some embodiments of any one of the methods provided herein, the sample collection occurs through non-invasive methods. Examples of non-invasive methods include, but are not limited to, cheek swab, buccal swab, and saliva collection through a sponge, pipette, or swab. In some embodiments, the sample collection is performed using a cheek swab. In some embodiments, the sample collection is performed using a buccal swab. In some embodiments, the sample collection is saliva collection through a sponge, pipette, or swab.

[0069] In some embodiments of any one of the methods provided herein, the sample is placed in a secure container. In some embodiments, the container is constructed from any suitable material. In some embodiments, the container is labeled. Examples of labeling techniques include, but are not limited to, written text, barcoding, or other identification means. In some embodiments, the samples are mailed to a facility.

[0070] In some embodiments of any one of the methods provided herein, collecting genetic material from the sample is performed. As described herein the term “genetic material” refers to any material that carries genetic information of a subject. In some embodiments, genetic material is a natural nucleic acid(s), such as DNA or RNA, or nucleic acids derived therefrom. In some embodiments, genetic material can include, consist, or consist essentially of a nucleic acid of one or more strands of single and / or double stranded material. In some embodiments, genetic material can include numerous strands and numerous genes, or the entire genome of the subject. In some embodiments, genetic material can include portions of the entire genome of a subject. In some embodiments, genetic material comprises, consists, or consists essentially of nucleic acids.

[0071] Genetic Variants )

[0072] Some aspects of the present disclosure relate to a method of assessing the presence or absence of at least one genetic variant of a gene associated with at least one of the five senses, comprising obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one genetic variant of a gene associated with at least one of the five senses. In some embodiments of any one of the methods provided herein, the methods further comprise assessing genetic predisposition to a disease, such as a set of diseases, in a subject based on the presence or absence of at least one pathogenic variant or a likely pathogenic variant for the disease, such as each disease in a set of diseases.

[0073] In some embodiments of any one of the methods provided herein, the genetic material is assessed for the presence or absence of a genetic variant. As described herein, the term “genetic variant” refers to changes or alterations to the reference gene, including, but not limited to, nucleotide base deletions, insertions, inversions, and substitutions in the coding and noncoding regions. In some embodiments, deletions may be of a single nucleotide base, a portion or a region of the nucleotide sequence of the gene, or the entire gene sequence. In some embodiments, insertions may be of one or more nucleotide bases.

[0074] As described herein, the term “gene” refers to a polynucleotide (e.g., a DNA segment), that encodes a polypeptide and includes regions preceding and following the coding regions as well as intervening sequences (introns) between individual coding segments (exons). In some embodiments, the gene is a human gene. As described herein, the term “reference gene” refers to a representative example of a gene in an idealized individual organism of a species. Generally, the reference gene is a template used to compare nucleotide sequences of a subject to make an assessment of the subject as provided herein. In some embodiments, the reference gene is one that represents a certain state, such as a healthy state for a relevant gene and associated disease(s), if applicable. As described herein, the term “reference genome” refers to any particular known genome sequence, whether partial or complete, of any organism or virus that may be used to reference identified sequences from a subject. For example, a reference genome used for human subjects as well as many other organisms can be found at the National Center for Biotechnology Information at ncbi.nlm.nih.gov.

[0075] In some embodiments of any one of the methods provided herein, the genetic variant is at least one genetic variant of a gene associated with at least one of the five senses, meaning the genetic variant is one associated with a sensory phenotype in a subject. In some embodiments of any one of the methods provided herein, the genetic variant is at least one (e.g., at least 1, at least 2, at least 3, at least 4, at least 5, at least 6, at least 7, at least 8, at least 9, at least 10, at least 11, at least 12, at least 13, at least 14, at least 15, at least 16, at least 17, at least 18, at least 19, at least 21, at least 22, at least 23, at least 24, at least 25, at least 26, at least 27, at least 28, at least 29, at least 30, at least 31, at least 32, at least 33, at least 34, at least 35, at least 36, at least 37, at least 38, at least 39, at least 40, at least 41, at least 42, at least 43, at least 44, at least 45, at least 46, at least 47, at least 48, at least 49, at least 50, at least 51, or at least 52) genetic variant of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PLCB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, OR5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, OR11A1, 0R2W1, OR2A5, OR6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, OPN1EW, OPN1MW, and any combination thereof. In some embodiments of any one of the methods provided herein, the present disclosure relates to a combination of detecting at least one genetic variant of a gene associated with at least one of the five senses and at least one genetic variant is a pathogenic variant or a likely pathogenic variant, meaning the genetic variant is one associated with having or an increased likelihood of a subject having an associated disease. In some embodiments, the status of a genetic variant (e.g., pathogenic variant, likely pathogenic, variant of unknown significance, benign, likely benign) is determined using an archive of human genetic variants. In some embodiments, the archive of human genetic variants also includes interpretations of the relationships between human genetic variants and diseases and other conditions. Archive of human genetic variants are well known in the art. For example, ClinVar is a public archive of human genetic variants maintained by the National Institutes of Health. See Landrum, Melissa J et al. “ClinVar: improvements to accessing data.” Nucleic acids research vol. 48, DI (2020): D835-D844. doi:10.1093 / nar / gkz972.

[0076] In some embodiments of any one of the methods provided herein, the genes that are assessed, comprise one or more, any combination of, or all of the genes provided herein, such as in Table 1 and / or the Figures. In some embodiments of any one of the methods provided herein, the genes that are assessed comprise at least 1, 2, 3, 4, 5, or more or all of the genes of Table 1 and / or the Figures that are associated with a sense, a sensory phenotype and / or a disease, such as each disease of a set of diseases.

[0077] Methods of Screening for Genetic Variants

[0078] In some embodiments of any one of the methods provided herein, the genetic material is assessed for the presence or absence of a genetic variant. In some embodiments, assessing the genetic material is performed using sequencing. In some embodiments, the sequencing is whole genome sequencing or targeted gene sequencing. Methods of whole genome sequencing or targeted gene sequencing are well-known in the art and may be used herein. For example, Goodwin, S., McPherson, J. & McCombie, W. Coming of age: ten years of next- generation sequencing technologies. Nat Rev Genet 17, 333-351 (2016). doi.org / 10.1038 / nrg.2016.49; Bagger, F.O., Borgwardt, L., Jespersen, A.S. et al. Whole genome sequencing in clinical practice. BMC Med Genomics 17, 39 (2024). doi.org / 10.1186 / sl2920-024-01795-w; and Pei, Xiao Meng et al. “Targeted Sequencing Approach and Its Clinical Applications for the Molecular Diagnosis of Human Diseases.” Cells vol. 12,3 493. 2 Feb. 2023, doi: 10.3390 / cellsl2030493; the entire contents of each of which are incorporated herein by reference. In some embodiments, determining a sequence (e.g., the presence or absence of a sequence or mutation) may be performed with nonsequencing techniques, such as annealing or PCR-based methods.

[0079] In some embodiments or any one of the methods provided herein, assessing the presence or absence of a genetic variant(s) comprises sequencing or determining a sequence of at least part of a genome comprises one or more genes of one or more cells in a sample of the subject, identifying from said sequencing or determining one or more mutations in the one or more genes, wherein the presence of said mutation(s) indicates a sensory phenotype and / or an increased risk of having or developing a disease. In some embodiments or any one of the methods provided herein, sequencing or determining a sequence at least part of a genome comprises sequencing or determining a sequence of one or more (e.g., 1 or more, 2 or more, 3 or more, 4 or more, 5 or more, 6 or more, 7 or more, 8 or more, 9 or more, 10 or more, 11 or more, 12 or more, 13 or more, 14 or more, 15 or more, 16 or more, 17 or more, 18 or more, 19 or more, 21 or more, 22 or more, 23 or more, 24 or more, 25 or more, 26 or more, 27 or more, 28 or more, 29 or more, 30 or more, 31 or more, 32 or more, 33 or more, 34 or more, 35 or more, 36 or more, 37 or more, 38 or more, 39 or more, 40 or more, 41 or more, 42 or more, 43 or more, 44 or more, 45 or more, 46 or more, 47 or more, 48 or more, 49 or more, 50 or more, 51 or more, or 52 or more), any combination, or all of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PLCB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, OR5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, OR11A1, OR2W1, OR2A5, OR6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, OPN1EW, and OPN1MW.

[0080] In some embodiments or any one of the methods provided herein, sequencing or determining a sequence at least part of a genome comprises sequencing or determining a sequence of one or more (e.g., 1 or more, 2 or more, 3 or more, 4 or more, 5 or more, 6 or more, 7 or more, 8 or more, 9 or more, 10 or more, 11 or more, 12 or more, 13 or more, 14 or more, 15 or more, 16 or more, 17 or more, 18 or more, 19 or more, 21 or more, 22 or more, 23 or more, 24 or more, 25 or more, 26 or more, 27 or more, 28 or more, 29 or more, 30 or more, 31 or more, 32 or more, 33 or more, 34 or more, 35 or more, 36 or more, 37 or more, 38 or more, 39 or more, 40 or more, 41 or more, 42 or more, 43 or more, 44 or more, 45 or more, 46 or more, 47 or more, 48 or more, 49 or more, 50 or more, 51 or more, or 52 or more), any combination, or all of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PECB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, 0R5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, 0R11A1, 0R2W1, OR2A5, OR6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, OPN1LW, and 0PN1MW.

[0081] In some embodiments or any one of the methods provided herein, sequencing or determining a sequence at least part of a genome comprises sequencing or determining a sequence of one or more (e.g., 1 or more, 2 or more, 3 or more, 4 or more, 5 or more, 6 or more, 7 or more, 8 or more, 9 or more, 10 or more, 11 or more, 12 or more, 13 or more, 14 or more, 15 or more, 16 or more, 17 or more, 18 or more, 19 or more, 21 or more, 22 or more, 23 or more, 24 or more, 25 or more, 26 or more, 27 or more, 28 or more, 29 or more, 30 or more, 31 or more, 32 or more, 33 or more, 34 or more, 35 or more, 36 or more, 37 or more, 38 or more, 39 or more, 40 or more, 41 or more, 42 or more, 43 or more, 44 or more, 45 or more, 46 or more, 47 or more, 48 or more, 49 or more, 50 or more, 51 or more, or 52 or more), any combination, or all of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PLCB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, OR5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, OR11A1, OR2W1, OR2A5, OR6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, OR8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, OPN1LW, and OPN1MW.

[0082] In some embodiments of any one of the methods provided herein, the identification of a sensory phenotype is based on the presence or absence of at least one (e.g., one or more, any combination, or all) of the genetic variants as provided herein. Exemplary genetic variants of a gene associated with at least one of the five senses are provided in Table 1. In some embodiments of any one of the methods provided herein, the predisposition to a disease, such as a set of diseases, is based on the presence or absence of at least one (e.g., one or more, any combination, or all) of the pathogenic variants or likely pathogenic variants for a disease, such as each disease in a set of diseases.

[0083] Subjects

[0084] In some embodiments of any one of the methods provided herein, the present disclosure provides methods of assessing genetic variation in a subject. As described herein, a subject is a human subject. In some embodiments of any one of the methods provided herein, the subject is a pediatric subject. As described herein, the term “pediatric” refers to a subject that is a newborn, infant, child, or adolescent. In some embodiments of any one of the methods provided herein, the subject is not an adult subject. In some embodiments of any one of the methods provided herein, the subject is a child. In some embodiments of any one of the methods provided herein, the subject is an infant. In some embodiments of any one of the methods provided herein, the subject is a newborn.

[0085] In some embodiments of any one of the methods provided herein, the subject is less than 18 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, or 18) years of age. In some embodiments, the subject is less than 18 years of age, less than 17 years of age, less than 16 years of age, less than 15 years of age, less than 14 years of age, less than 13 years of age, less than 12 years of age, less than 11 years of age, less than 10 years of age, less than 9 years of age, less than 8 years of age, less than 7 years of age, less than 6 years of age, less than 5 years of age, less than 4 years of age, less than 3 years of age, less than 2 years of age, or less than 1 year of age. In some embodiments, the subject is less than 18 years of age. In some embodiments, the subject is less than 17 years of age. In some embodiments, the subject is less than 16 years of age. In some embodiments, the subject is less than 15 years of age. In some embodiments, the subject is less than 14 years of age. In some embodiments, the subject is less than 13 years of age. In some embodiments, the subject is less than 12 years of age. In some embodiments, the subject is less than 11 years of age. In some embodiments, the subject is less than 10 years of age. In some embodiments, the subject is less than 9 years of age. In some embodiments, the subject is less than 8 years of age. In some embodiments, the subject is less than 7 years of age. In some embodiments, the subject is less than 6 years of age. In some embodiments, the subject is less than 5 years of age. In some embodiments, the subject is less than 4 years of age. In some embodiments, the subject is less than 3 years of age. In some embodiments, the subject is less than 2 years of age. In some embodiments, the subject is less than 1 year of age.

[0086] In some embodiments of any one of the methods provided herein, the subject is about 18 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, or 18) years of age. In some embodiments, the subject is about 18 years of age, about 17 years of age, about 16 years of age, about 15 years of age, about 14 years of age, about 13 years of age, about 12 years of age, about 11 years of age, about 10 years of age, about 9 years of age, about 8 years of age, about 7 years of age, about 6 years of age, about 5 years of age, about 4 years of age, about 3 years of age, about 2 years of age, or about 1 year of age. In some embodiments, the subject is 18 years of age. In some embodiments, the subject is 17 years of age. In some embodiments, the subject is 16 years of age. In some embodiments, the subject is 15 years of age. In some embodiments, the subject is 14 years of age. In some embodiments, the subject is 13 years of age. In some embodiments, the subject is 12 years of age. In some embodiments, the subject is 11 years of age. In some embodiments, the subject is 10 years of age. In some embodiments, the subject is 9 years of age. In some embodiments, the subject is the subject is 8 years of age. In some embodiments, the subject is 7 years of age. In some embodiments, the subject is 6 years of age. In some embodiments, the subject is 5 years of age. In some embodiments, the subject is 4 years of age. In some embodiments, the subject is 3 years of age. In some embodiments, the subject is 2 years of age. In some embodiments, the subject is 1 year of age.

[0087] In some embodiments of any one of the methods provided herein, the subject is less than 18 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, or 18) months of age. In some embodiments, the subject is less than 18 months of age, less than 17 months of age, less than 16 months of age, less than 15 months of age, less than 14 months of age, less than 13 months of age, less than 12 months of age, less than 11 months of age, less than 10 months of age, less than 9 months of age, less than 8 months of age, less than 7 months of age, less than 6 months of age, less than 5 months of age, less than 4 months of age, less than 3 months of age, less than 2 months of age, less than 1 month of age. In some embodiments, the subject is less than 18 months of age. In some embodiments, the subject is less than 17 months of age. In some embodiments, the subject is less than 16 months of age. In some embodiments, the subject is less than 15 months of age. In some embodiments, the subject is less than 14 months of age. In some embodiments, the subject is less than 13 months of age. In some embodiments, the subject is less than 12 months of age. In some embodiments, the subject is less than 11 months of age. In some embodiments, the subject is less than 10 months of age. In some embodiments, the subject is less than 9 months of age. In some embodiments, the subject is less than 8 months of age. In some embodiments, the subject is less than 7 months of age. In some embodiments, the subject is less than 6 months of age. In some embodiments, the subject is less than 5 months of age. In some embodiments, the subject is less than 4 months of age. In some embodiments, the subject is less than 3 months of age. In some embodiments, the subject is less than 2 months of age. In some embodiments, the subject is less than 1 month of age.

[0088] In some embodiments of any one of the methods provided herein, the subject is about 18 (e.g., 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, or 18) months of age. In some embodiments, the subject is about 18 months of age, about 17 months of age, about 16 months of age, about 15 months of age, about 14 months of age, about 13 months of age, about 12 months of age, about 11 months of age, about 10 months of age, about 9 months of age, about 8 months of age, about 7 months of age, about 6 months of age, about 5 months of age, about 4 months of age, about 3 months of age, about 2 months of age, about 1 month of age. In some embodiments, the subject is 18 months of age. In some embodiments, the subject is 17 months of age. In some embodiments, the subject is 16 months of age. In some embodiments, the subject is 15 months of age. In some embodiments, the subject is 14 months of age. In some embodiments, the subject is 13 months of age. In some embodiments, the subject is 12 months of age. In some embodiments, the subject is 11 months of age. In some embodiments, the subject is 10 months of age. In some embodiments, the subject is 9 months of age. In some embodiments, the subject is 8 months of age. In some embodiments, the subject is 7 months of age. In some embodiments, the subject is 6 months of age. In some embodiments, the subject is 5 months of age. In some embodiments, the subject is 4 months of age. In some embodiments, the subject is 3 months of age. In some embodiments, the subject is 2 months of age. In some embodiments, the subject is 1 month of age.

[0089] In some embodiments of any one of the methods provided herein, the subject is less than 4 (e.g., 1, 2, 3, or 4) weeks of age. In some embodiments, the subject is less than 4 weeks of age, less than 3 weeks of age, less than 2 weeks of age, or less than 1 week of age. In some embodiments, the subject is less than 4 weeks of age. In some embodiments, the subject is less than 3 weeks of age. In some embodiments, the subject is less than 2 weeks of age. In some embodiments, the subject is less than 1 week of age.

[0090] In some embodiments of any one of the methods provided herein, the subject is about 4 (e.g., 1, 2, 3, or 4) weeks of age. In some embodiments, the subject is about 4 weeks of age, about 3 weeks of age, about 2 weeks of age, or about 1 week of age. In some embodiments, the subject is 5 weeks of age. In some embodiments, the subject is 4 weeks of age. In some embodiments, the subject is 3 weeks of age. In some embodiments, the subject is 2 weeks of age. In some embodiments, the subject is 1 week of age.

[0091] In some embodiments of any one of the methods provided herein, the subject is a healthy subject.

[0092] In some embodiments of any one of the methods provided herein, the subject is a healthy- appearing subject. As described herein, the terms “healthy” or “healthy-appearing” refers to a subject that does not exhibit one or more symptoms of a disease, does not have an existing medical diagnosis for a disease described herein and / or is otherwise (without the methods provided herein) not expected to have the disease or set of diseases as provided herein. In some embodiments, a health- appearing subject has an undiagnosed genetic condition. In some embodiments, a health-appearing subject may have or be genetically predisposed to developing a disease.

[0093] In some embodiments of any one of the methods provided herein, the subject is one who has been identified as having a disease or having a genetic predisposition. In some embodiments of any one of the methods provided herein, the subject is one who has been identified as having a disease or having a genetic predisposition of one or more of the diseases provided herein, but is then monitored over time. Thus, in one aspect are methods whereby any one of the methods provided herein are performed repeatedly (i.e., more than once). In some embodiments, the method is repeated at a certain frequency, such as monthly, every other month, every quarter, every six months, or annually.

[0094] EXAMPLES

[0095] Example 1: Genetic Testing to Identify a Variant of a Gene

[0096] To assess a sensory phenotype in a subject and / or a genetic predisposition to a set of diseases in a subject a kit can be used to collect genetic material from a pediatric subject. The kit can include a cheek swab and instructions to collect a sample from the pediatric subject. The instructions may include steps according to FIG. 1. Genetic material can be collected from the sample and tested for the presence or absence of at least one genetic variant as provided herein.

[0097] The results of the genetic testing can identify a variant of a gene. The test results can be provided to the subject. Exemplary test results are provided in FIGs. 2A-2B. Additional testing may be performed, including repeated testing with the methods provided herein.

[0098] Example 2: Examples of the Use of Genetic Testing for Variants Associated with the Senses

[0099] Validation of the testing results was conducted qualitatively by asking each participant about their preferences while they were blinded to the results of their genetic testing.

[0100] Family 1: 16-y ear-old Female and 13 -year-old Male

[0101] The 16-year-old female underwent genetic testing for the senses. She was a non-taster of bitter tastes according to the haplotype of rs713598, rsl726866, and rsl0246939. She was tested with phenylthiocarbamide (PTC) testing strips and was unable to taste the bitterness, confirming that her haplotype was correct and that she was a non-taster of bitterness. Her 13- year-old brother also was a non-taster of bitterness according to the same haplotype and PTC testing confirmed this result. Both siblings were found to have the AA genotype for rs6591536, which suggests that they may not detect floral smells as strongly. This phenotype was confirmed as both are known to wear strong perfume and cologne, likely because they do not perceive scents as intensely.

[0102] Family 2: 20-y ear-old Female, 17-year-old Female, and 13-year-old Male

[0103] The 20-year-old female underwent genetic testing for the senses. She was found to have a preference for salty foods, with a genotype of AA for rs4790522. On interview, she confirmed that she enjoyed salty foods, particularly salty snacks, more than her siblings. Her two siblings, who had the AC genotype for rs4790522, reported no strong preference for salty foods.

[0104] Family 3: 21 -year-old Male and 19-y ear-old Female

[0105] The 21 -year-old male was identified as a super- taster of bitter tastes according to the haplotype of rs713598, rs 1726866, and rs 10246939. PTC testing confirmed this finding, as he reacted strongly to the bitterness. His 19-year-old sister had the same haplotype and also reacted strongly to the bitterness, confirming that she too is a super-taster.

[0106] Both siblings carried the AG genotype for rs671, which is associated with facial flushing when consuming alcohol. The brother confirmed that he experiences flushing when drinking alcohol. The sister has not consumed alcohol but is expected to exhibit the same reaction.

[0107] They also shared the AG genotype for rs6591536, suggesting that they detect and enjoy floral scents. This phenotype was confirmed as both reported enjoying mild floral smells.

[0108] Family 4: 21 -year-old Male and 18-y ear-old Female

[0109] The 21-year-old male had a GT genotype for rs4920566, suggesting a moderate liking for sweets, which he confirmed during the interview. His 18-year-old sister had a TT genotype for rs4920566, indicating a high liking for sweets and a greater intake of sugary foods and beverages, which she also confirmed. The siblings reported that the sister consumed more sugary sodas than the brother.

[0110] Both siblings were moderate tasters of bitterness according to the haplotype of rs713598, rsl726866, and rsl0246939. On interview, they reported that they could taste bitterness, but it did not bother them. Use Example 1: A 3 -month-old male

[0111] A 3-month-old male underwent genetic testing for the senses. His testing suggested that he has a moderately increased liking for sweets (rs4920566, CT), is a moderate bitter taster according to the haplotype of rs713598, rs 1726866, and rs 10246939, and is likely to experience flushing when consuming alcohol. He probably perceives and enjoys floral scents at a moderate level (rs6591536, GA) and has a moderate preference for salt (rs4790522, AC). He does not carry variants associated with special musical aptitude (rs9854612, rs6265).

[0112] Actions: Given this infant’s moderate sensitivity to bitterness, his parents may consider providing repeated exposure to bitter greens once solid foods are introduced at around six months of age. Repeated exposure helps broaden taste acceptance.

[0113] Because of his moderate liking for sweets, his parents can shape how sweet foods are introduced and reinforced. They can delay the introduction of added sugars until at least 12 months of age, avoid sweetened drinks and desserts early on, and focus on offering vegetables, proteins, and whole grains when solids are introduced. As always, parents should model balanced eating habits and limit juice to rare occasions.

[0114] Use Example 2: A 3 -year-old male

[0115] A 3-year-old male underwent genetic testing for the senses. His testing suggested that he has a decreased liking for sweets (rs4920566, CC), is a moderate bitter taster according to the haplotype of rs713598, rsl726866, and rsl0246939, and is likely to experience flushing when drinking alcohol. He probably detects floral scents more strongly than most individuals (rs6591536, GG), suggesting floral scent sensitivity, and has a moderate liking for salt (rs4790522, AC).

[0116] Actions: Given this child’s moderate sensitivity to bitterness, his parents may consider providing repeated exposure to bitter greens when introducing new foods. Repeated exposure can help expand food acceptance.

[0117] A 3-year-old who is genetically less interested in sweets typically has a long-term advantage for healthy eating. Parents can support him by offering balanced, flavorful meals while limiting added sugars. They do not need to pressure him to eat desserts or sweets, as using sweets as a reward is unlikely to be effective.

[0118] This child’s heightened sensitivity to floral scents means that certain odors (perfumes, soaps, lotions, candles, cleaning products, or some foods) may be perceived as stronger or even unpleasant. Such odors can trigger avoidance behaviors, mild headaches, or irritability. Parents can help by keeping the home as neutral-scent as possible — using unscented or hypoallergenic products for laundry, soaps, and lotions, and avoiding air fresheners, scented candles, and room sprays. Adults should avoid wearing perfume or cologne around the child, and strongly aromatic flowers should be kept out of common areas. Gradual, positive scent exposure in calm settings may help build tolerance.

Claims

CLAIMS1. A method of assessing genetic variation in a subject, comprising: obtaining a sample from the subject, collecting genetic material from the sample, and assessing the presence or absence of at least one genetic variant of a gene associated with at least one of, any combination of, or all of the sense of taste, smell, hearing, touch and vision.

2. The method of claim 1, wherein the subject is a pediatric subject.

3. The method of claim 1 or 2, wherein the subject is a healthy-appearing subject.

4. The method of any one of claims 1-3, wherein the sample is collected with a non- invasive test.

5. The method of claim 4, wherein the sample is a cheek swab.

6. The method of any one of claims 1-5, wherein the gene is one or more of, any combination of, or all of TAS2R38, TAS2R16, TAS2R19, TAS1R2, PLCB2, ITPR3, OR6A2, ACE, ADRB3, AGT, ADIPOQ, TAS2R43, TAS1R1, PKD1L3, TAS2R31, COMT, TAS2R1, TAS2R4, TAS2R14, FTO, TRPV1, ALDH2, CAV1, PTPRN2, SLC4A5, OR4D6, OR51B2, 0R5A1, OR7D4, OR2J3, TAAR4P, OR6C70, HBG2, OR10J5, 0R11A1, 0R2W1, OR2A5, 0R6Y1, OR2A25, OR10G4, OR10Z1, OR10C1, OR6B2, OR5F1, 0R8A1, OR2M7, TENM2, GATA2, BDNF, SCN9A, OPN1SW, 0PN1LW, 0PN1MW and any other of the relevant genes provided herein, such as in Table 1.

7. The method of any one of claims 1-6, wherein the at least one genetic variant of the gene indicates a sensory phenotype in the subject.

8. The method of claim 7, wherein the sensory phenotype is one or more of, any combination of, or all of the sensory phenotypes provided herein, such as in Table 1.

9. The method of any one of claims 1-8, wherein the method is repeated.

10. The method of claim 9, wherein the method is repeated monthly, quarterly, or yearly.

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