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Patient Information Provider Information Specimen Patient Name: Demo4 GB Provider: GBinsight Test ID: 862-1596485787-4 Date of Birth: 01/01/1980 Provider ID: 1558444216 Specimen Type: Buccal swab Age: 41 Clinical Team: GB Demo Report Date: 08/03/2020 Sex: female Ethnicity: Other NUTRITIONAL GENOMICS REPORT Nutritional Genomics Comprehensive Panel Summary The results of your GBinsight nutritional genomics analysis for 20 traits are summarized below. For detailed scientific information and dietary guidance, you must access your digital report using your personal HealthWatch 360 account.

Nutritional Predisposition Risk Assessment

Alcohol Intolerance/Alcohol Flush Reaction High risk

Long-chain Omega-3/6 Deficiency Increased risk

Lactose Intolerance Likely intolerant

Sensitivity To A High-carbohydrate Diet, Hypertriglyceridemia Increased risk

Functional Vitamin D Deficiency Increased risk

Fat Intolerance Slightly increased risk

Fat-soluble Vitamin Deficiency Slightly increased risk

Sensitivity To A High Carbohydrate Diet, Non-alcoholic Fatty Liver Disease Slightly increased risk (NAFLD)

Choline Deficiency Slightly increased risk

Sensitivity To Caffeine Average

Reduced Utilization Of Long-chain Fatty Acids For Fuel Average risk

Gluten Intolerance Not likely at risk

Fructose Intolerance Risk not identified

Sensitivity To A High-fat Diet, Hypercholesterolemia Risk not identified

Sensitivity To Sodium, Hypertension Risk not identified

Folate Deficiency Risk not identified

Retinol Deficiency Risk not identified

Vitamin B12 Deficiency Risk not identified

Sensitivity To Plant Sterols, Sitosterolemia Risk not identified

Iron Overload Risk not identified

GB HealthWatch, 6370 Lusk Blvd., Suite F205, San Diego, CA 92121 Page 1 / 8 Patient Name: Demo4 GB Test ID: 862-1596485787-4

Detailed infromation Detailed information on genetic traits, symptoms, related nutrients and dietary recommendations are available only in the digital report.

Alcohol intolerance/Alcohol flush reaction

Risk assessment: High risk. 2 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

ADH1B SNV Heterozygous rs1229984 Alcohol to acetaldehyde metabolism, Association (c.143A>G(p.His48Arg)) increased missense

ALDH2 SNV Heterozygous rs671 Facial flushing and hangover after Strong risk factor (c.1510G>A(p.Glu504Lys)) ClinVar ID: 18390 alcohol intake missense

What is Alcohol intolerance/Alcohol flush reaction? Alcohol intolerance or flush reaction refers to the diminished ability to fully break down alcohol. People with alcohol intolerance who drink alcohol in excess can develop flushing or redness in the face. Over time, this inability to break down alcohol completely can increase risk of certain cancers, such as of the esophagus. Genetic variants that reduce our cells' ability to break down alcohol cause flushing. Alcohol flush reaction is caused by genetic variants in the ALDH2 gene that lead to the accumulation of acetaldehyde, a metabolic breakdown product of alcohol.

Long-chain omega-3/6 deficiency

Risk assessment: Increased risk. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

FADS1 SNV Homozygous rs174547 Very long-chain polyunsaturated fatty Risk factor (c.1248+52A>G) acids, deficiency intron_variant

What is Long-chain omega-3/6 deficiency? Reduced blood levels of very long chain fatty acids (VLCFAs) can cause dry and brittle skin, hair and nails, disorientation, depression, food cravings and high triglyceride levels in the blood. Severe genetic forms cause VLCFA deficiency, which are a group of inborn errors of metabolism and are typically identified in infants and can result in serious complications. Modestly reduced VLCFA levels can be caused by inadequate dietary intake or genetic variants that limit conversion of VLCFAs from their biological precursors. Genetic variants within the FADS1-2-3 gene cluster cannot efficiently convert plant-based, long-chain fatty acids to the biologically-active VLCFAs such as eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA) and arachidonic acid. As such, people with a risk variant within the FADS1-2-3 genes may need to consume more animal-based fat or take a fish oil supplement.

Lactose intolerance

Risk assessment: Likely intolerant. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

MCM6 SNV Homozygous rs4988235 Lactose intolerance Association (c.1917+326C=) intron_variant

What is Lactose intolerance? Lactose intolerance refers to our body's reduced ability to break down lactose, the primary sugar found in dairy. People who are lactose intolerant but consume dairy may experience bloating, pain, feeling gassy and diarrhea. Lactose intolerance is common and an ancestral trait that occurs as our body shuts down the LCT gene that encodes for the lactase enzyme around the third year of life. Genetic variants in the adjacent gene, MCM6, that control the LCT gene confer lactose intolerance if the LCT gene is shut down and lactase cannot be made or lactose persistence when the LCT gene remains turned on. Studies have revealed that lactase persistence (LP), a phenotype unique to humans, is associated with various autosomal dominant alleles maintaining the expression of lactase beyond infancy. These genetic changes emerged relatively recently when some populations transitioned from nomadic to agricultural lifestyles, when cattle domestication and milk/dairy foods became common.

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Sensitivity to a high-carbohydrate diet, hypertriglyceridemia

Risk assessment: Increased risk. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

APOA5 SNV Homozygous rs2266788 Hypertriglyceridemia Risk factor (c.*158C=) ClinVar ID: 127141 3_prime_UTR

What is Sensitivity to a high-carbohydrate diet, hypertriglyceridemia? Excess dietary carbohydrate intake, particularly from simple sugars and refined foods, will prompt our livers to produce triglycerides as a means of storing the excess energy. The newly produced triglycerides are packaged into very low-density lipoproteins (VLDL) to deliver triglycerides to adipose tissue for storage. Elevated triglycerides is a risk factor for low HDL-cholesterol levels, metabolic syndrome and type 2 diabetes.

Functional vitamin D deficiency

Risk assessment: Increased risk. 2 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

GC SNV Homozygous rs7041 Osteoporosis, susceptibility to Risk factor (c.1296T=(p.Asp=)) missense

VDR SNV Homozygous rs1544410 Osteoporosis Risk factor (c.1024+283G=) intron_variant

What is Functional vitamin D deficiency? Vitamin D is a key regulator of calcium (and other minerals such as phosphate and magnesium) that are needed for formation of teeth and bones. Vitamin D is important for cell identity that antagonizes cancer cell development. Vitamin D binds to a specific receptor - the vitamin D receptor - causing the receptor to move to the nucleus where it binds to specific regions of DNA. In the absence of vitamin D or if the vitamin D receptor is absent or not functioning properly, bone and teeth will not get properly mineralized, which can cause brittle bones and cavities.

Fat intolerance

Risk assessment: Slightly increased risk. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

APOA5 SNV Homozygous rs2266788 Hypertriglyceridemia Risk factor (c.*158C=) ClinVar ID: 127141 3_prime_UTR

What is Fat intolerance? Fat intolerance refers to the impairment of the breakdown and clearance of triglycerides from the blood for energy use or storage by the tissues, resulting in high blood triglyceride levels. Severely elevated blood triglycerides can lead to inflammation of the pancreas (pancreatitis) that can cause sharp pains in the abdominal area and skin lesions made up of fat deposits called xanthomas. Strict dietary fat restriction is required to lower triglyceride levels. This restriction makes one susceptible to fat-soluble vitamin (vitamins A, D, E and K) and essential fatty acid deficiencies. Genetic loss of lipoprotein lipase (LPL) or its associated proteins are the major genetic cause of fat intolerance. In its most serious case, genetic loss of both copies of LPL results in familial chylomicronemia syndrome (FCS), which is characterized by severe hypertriglyceridemia and an inability to metabolize dietary fat.

Fat-soluble vitamin deficiency

Risk assessment: Slightly increased risk. 1 variant(s) identified.

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Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

APOA5 SNV Homozygous rs2266788 Hypertriglyceridemia Risk factor (c.*158C=) ClinVar ID: 127141 3_prime_UTR

What is Fat-soluble vitamin deficiency? Fat-soluble vitamin deficiencies (of vitamins A, D, E and/or K) can result from inadequate dietary intake (such as from an extremely low-fat diet) and/or genetic defects in genes involved in absorption or transport of fat-carrying lipoproteins. As fat-soluble molecules cannot freely travel through our blood, they must be packaged into particles known as lipoproteins. Following a meal, our gut makes a type of lipoprotein called chylomicrons that transport fats, cholesterol and fat-soluble vitamins through out blood to our cells. When needed, our liver can mobilize and package these same components into another type of lipoprotein called very low-density lipoproteins (VLDL). Genetic loss of key players, such as ANGPTL3, APOB, MTTP or SAR1B, in these processes can markedly reduce our cells' ability to utilize these vitamins causing fat-soluble vitamin deficiency. Some people who cannot break down fat for energy production are required to severely limit their fat intake. These people have a genetic condition called familial chylomicronemia syndrome (FCS) which is caused by genetic loss of their LPL or related gene. Some people may opt to consume a very low-fat diet. If fat intake is severely limited, these people are at high risk of fat-soluble vitamin deficiency.

Sensitivity to a high carbohydrate diet, non-alcoholic fatty liver disease (NAFLD)

Risk assessment: Slightly increased risk. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

PNPLA3 SNV Heterozygous rs738409 Non-alcoholic fatty liver Risk factor (c.444C>G(p.Ile148Met)) ClinVar ID: 341932 missense

What is Sensitivity to a high carbohydrate diet, non-alcoholic fatty liver disease (NAFLD)? Non-alcoholic liver disease is the most common cause of liver disease and transplants. This is largely due to obesity. Genetic variants in the PNPLA3 gene are associated with the severity of non-alcoholic fatty liver disease (NAFLD), steatohepatitis, and liver fibrosis, which are risk factors for liver cancer. Consuming excess dietary carbohydrates, particularly fructose, can worsen NAFLD by pushing the liver to produce more triglycerides.

Choline deficiency

Risk assessment: Slightly increased risk. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

PEMT SNV Homozygous rs7946 Choline deficiency, susceptibility to Risk factor (c.634G>A(p.Val212Met)) missense

What is Choline deficiency? Choline is an essential nutrient for a family of biological reactions collectively referred to as "one-carbon metabolism." These reactions involve the give and take of single carbon or methyl groups between biological molecules such as those involved in the production of DNA, RNA and the amino acid methionine. Choline is also critical for the production of phosphatidylcholine (PC) which is a major component of cell membranes as well as fat- transporting lipoproteins, such as LDL and HDL. PC is found in large amounts in the brain as part of cell membranes and also the neurotransmitter, acetylcholine. Short supply of choline due to inadequate dietary consumption and/or a genetic defect in a gene involved in the choline pathway can lead to fatty liver, elevated homocysteine in the blood, anxiety, and muscle pain and weakness. Too much choline can cause a fishy odor. Notably, genetic loss of the PEMT gene, which is involved in the production of PC, can contribute to choline deficiency.

Sensitivity to caffeine

Risk assessment: Average. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

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Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

CYP1A2 SNV Heterozygous rs762551 Caffeine-cardiovascular disease Association (c.-9-154C>A) ClinVar ID: 511079 interaction intron_variant

What is Sensitivity to caffeine? Some people experience unpleasant effects following consumption of caffeinated beverages, such as feeling anxious or jittery. While coffee has been shown to have beneficial effects particularly on the liver, some people may have increased risk of elevated blood pressure (hypertension) if they consume coffee regularly. Genetic variants in the ADORA2A and CYP1A2 genes are known to cause these effects in some people.

Reduced utilization of long-chain fatty acids for fuel

Risk assessment: Average risk. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

CPT2 SNV Heterozygous rs2229291 Carnitine palmitoyltransferase II Risk factor (c.1055T>G(p.Phe352Cys)) ClinVar ID: 30118 deficiency, myopathic, stress- missense induced

What is Reduced utilization of long-chain fatty acids for fuel? During intensive exercise or prolonged fasting, our bodies rely on fats for energy utilization. This occurs in the mitochondria, which are the power- production facilities within our cells. Two genes, CPT1A and CPT2, comprise a shuttling system that allow fats to enter mitochondria for the production of energy from fats. Genetic loss of these genes, but especially CPT2, prevents our cells from using fats for energy, which can cause muscle pain and damage.

Gluten intolerance

Risk assessment: Not likely at risk. 0 variant(s) identified.

What is Gluten intolerance? Gluten intolerance can be due to an autoimmune condition, Celiac disease (CD), or through some still undefined gluten insensitivity. CD results from our body's immune system attacking our own cells in our gut in response to gluten, a protein found in wheat, barley, and rye. The primary symptoms of CD following consumption of gluten is diarrhea but other symptoms include bloating, gas, fatigue, low blood count (anemia), weight loss and thinning of the bones due to reduced nutrient absorption. CD is strongly influenced by genetics involving a region of immune-related genes called HLA (human leukocyte antigen). Many HLA genetic variants exist, but only two of these, DQ2.5 (HLA-DQA1 T allele at rs2187668) and DQ8 (HLA-DQB1 C allele at rs7454108), can form inflammatory complexes with gluten. About 90% of CD patients carry the DQ2.5 variant, and the remaining ~10% carry the DQ8 variant. While genetic risk makes CD possible, having a genetic risk variant does not mean you will have CD. Non-autoimmune gluten intolerance causes symptoms not involving the gut such as headache, "foggy mind," joint pain, and numbness in one's arms and legs. It is still unknown what causes non-Celiac gluten intolerance.

Fructose intolerance

Risk assessment: Risk not identified. 0 variant(s) identified.

What is Fructose intolerance? Fructose intolerance refers to our body's diminished ability to break down the sugar fructose. Fructose is found naturally in fruits and honey but is provided most abundantly in the human diet as added sugars (in the forms of sucrose and high fructose corn syrup). People with fructose intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, and low blood sugar (hypoglycemia). Fructose intolerance is caused by genetic loss of the ALDOB gene that encodes for an enzyme involved in the breakdown of fructose.

Sensitivity to a high-fat diet, hypercholesterolemia

Risk assessment: Risk not identified. 0 variant(s) identified.

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What is Sensitivity to a high-fat diet, hypercholesterolemia? Elevated cholesterol (hypercholesterolemia) is a major risk factor for atherosclerotic cardiovascular diseases, such as heart attack and stroke. Familial hypercholesterolemia (FH) is genetic and causes a lifelong increase in total and LDL-cholesterol (LDL-C) levels. FH is caused primarily by genetic loss of genes involved in the clearance of LDL from our blood. Defects in the LDLR gene that encode the LDL receptor account for about 90% of all known FH cases. Genetic variants in the APOB and PCSK9 genes that are limit clearance of LDL from the blood cause FH.

Sensitivity to sodium, hypertension

Risk assessment: Risk not identified. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

AGT SNV Heterozygous rs4762 Essential hypertension Risk factor (c.620C>T(p.Thr207Met)) ClinVar ID: 296083 missense

What is Sensitivity to sodium, hypertension? Hypertension or elevated blood pressure is often called the silent killer and is a major risk factor for cardiovascular disease and kidney failure. Consuming high amounts of sodium can worsen risk of hypertension. Genetic variants in certain genes predispose high blood pressure and therefore limiting sodium intake can be especially beneficial.

Folate deficiency

Risk assessment: Risk not identified. 0 variant(s) identified.

What is Folate deficiency? Folate (also known as folic acid or vitamin B9) is an essential nutrient for many biological reactions collectively referred to as "one-carbon metabolism." These reactions involve the give and take of single carbon or methyl groups between biological molecules such as those involved in the production of DNA, RNA and the amino acid methionine. The production of methionine from the toxic compound, homocysteine, is important for DNA methylation reactions. Short supply of folate due to inadequate dietary consumption and/or a genetic defect in a gene involved in the folate pathway can lead to fatigue and irritability and increased risk of cardiovascular diseases due to buildup of homocysteine and birth defects. Notably, genetic loss of the MTHFR gene, which converts a precursor form of folate to the active form, can lead to folate deficiency.

Retinol deficiency

Risk assessment: Risk not identified. 0 variant(s) identified.

What is Retinol deficiency? Retinoids is the functional name for vitamin A. Deficiency of vitamin A has numerous biological effects and deficiency can, at its worst, lead to blindness. Deficiency can also lead to dry skin, acne, infections and, over time, may increase risk of Alzheimer's disease. Retinoids are important for our cells to control a wide range of genes, known as gene expression. Retinoids bind to the proteins RXR and RAR that regulates the numerous genes involved in metabolism, immunity and cellular identity. Retinoids are only found in animal-sourced foods such as fish and liver. Plant-based foods provide carotenoids that can be converted to retinoids in our intestines via an enzyme (molecular machine) called BCO1. Genetic loss of BCO1 leads to accumulation of carotenoids (hypercarotenemia which can cause yellowish skin tone) and deficiency of vitamin A unless animal-sourced retinoids are the major source of vitamin A.

Vitamin B12 deficiency

Risk assessment: Risk not identified. 1 variant(s) identified.

Variant Type Genotype dbSNP/ClinVar Phenotype/Disease Classification

MTRR SNV Heterozygous rs1801394 Hyperhomocysteinemia, Risk factor (c.66A>G(p.Ile22Met)) ClinVar ID: 7029 susceptibility to missense

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What is Vitamin B12 deficiency? Vitamin B12 is an essential nutrient for a family of biological reactions collectively referred to as "one-carbon metabolism." These reactions involve the give and take of single carbon or methyl groups between biological molecules such as those involved in the production of DNA, RNA and the amino acid methionine. The production of methionine from the toxic compound, homocysteine, is important for DNA methylation reactions. A short supply of vitamin B12 due to inadequate dietary consumption and/or a genetic defect in a gene involved in the folate pathway can lead to anemia or a shortage of red blood cells which can cause fatigue and irritability. Symptoms may also include memory issues and tingling sensation in the hands and feet (known as paraesthesia). Genetic defects in one of several genes involved in vitamin B12 absorption, processing and/or transport, such as CBLIF, TCN1, TCN2, MTR and MTRR can also contribute to vitamin B12 deficiency.

Sensitivity to plant sterols, sitosterolemia

Risk assessment: Risk not identified. 0 variant(s) identified.

What is Sensitivity to plant sterols, sitosterolemia? Plant sterols are typically not absorbed by our guts as they are expelled from the cells lining our guts using a specific pump called sterolin. Sterolin is composed of two proteins: ABCG5 and ABCG8. Genetic loss of both copies of either ABCG5 or ABCG8 causes sitosterolemia that is characterized by very high levels of plant sterols in our blood. This typically causes deposits under the skin (xanthomas) and atherosclerosis or blockage of arteries that can lead to heart attack and stroke.

Iron overload

Risk assessment: Risk not identified. 0 variant(s) identified.

What is Iron overload? Iron overload refers to elevated levels of iron in the blood, which can result in iron deposits in organs such as the liver. Complete loss of the HFE gene that encodes for a regulator of iron transportation in the blood can lead to osteoporosis, liver failure and heart defects. A defective HFE gene leads to modestly high iron levels in the blood and can increase risks of Alzheimer's disease, hypertension, diabetes and vascular complications.

Follow up recommendations: Follow up with your healthcare provider for implications of this test results for genetic counseling, diagnosis, prognosis or other treatment options. If a pathogenic or likely pathogenic genetic variant is identified, cascade screening of biological family members should be considered. A negative GBinsight genetic test result does not indicate that there is no disease risk. Other types of risk, beyond the results of this genetic test, such as lifestyle factors (i.e. smoking, poor diet and being sedentary) or other family history may influence disease risk and be clinically significant. Please see LIMITATIONS below for more detailed information.

METHODOLOGY

This individual's genomic DNA was sequenced using next generation sequencing (NGS) at the regions targeted by GBinsight Panels on an Illumina HiSeq instrument. See gene List and targeted regions online for details: https://www.gbhealthwatch.com/gbinsight/genetic-panels.php. The NGS sequencing data were analyzed with a bioinformatics pipeline developed by GB HealthWatch. Nucleotide sequence is based on the Human Genome Assembly 19 (hg19). Variant nomenclature and classification follow conventions and guidelines established by the Human Genome Variation Society (HGVS) and the American College of Medical Genetics and Genomics (ACMG). In addition to classifying variants into Pathogenic and Likely Pathogenic categories recommended for Mendelian diseases, this report also provides an estimation of genetic risk for polygenic causes of disease. The polygenic risk score is calculated using a proprietary algorithm developed by GB HealthWatch. For more information, please visit: https://www.gbhealthwatch.com/gbinsight/how-it-works.php. This Laboratory Developed Test (LDT) was developed and its performance characteristics were established by collaboration between GB HealthWatch and Otogenetics Corporations. The DNA sequencing was performed by the Otogenetics Corporation, a CLIA certified and CAP-accredited licensed molecular diagnostic laboratory in Atlanta, Georgia, USA. The bioinformatics analysis and the test report are performed by GB HealthWatch, San Diego, California, USA. This test has not been cleared or approved by the US Food and Drug Administration (FDA) or the FDA has determined that such clearance or approval is not necessary.

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LIMITATIONS

The GBinsight Comprehensive Genetic Analysis Report should only be used for clinical investigation or research purposes. It is recommended that genetic analysis data be used only as a reference for investigating potential causality of phenotype and not used for diagnosing a particular disease. If phenotype is not consistent with the genetic risk assessment provided by this report, then other genetic variants that are not detectable by this test should be suspected. Alternatively, non-genetic factors, such as smoking, diet and exercise, should be considered as risk-modifying. This test does not sequence all bases in the human genome and not all variants have been identified or interpreted. This sequence analysis is designed to evaluate single nucleotide variants and small insertions and deletions (<10 nucleotides) within the targeted regions. Variants in regions beyond targeted regions of this assay will not be detected. In addition, tandem repeat expansion, translocations and large copy number events are currently not reliably detected by NGS. Furthermore, not all disease-associated genes have been identified and the clinical significance of variants in many genes is not well understood. In some instances, genetic test results may miss identifying a genetic abnormality when a genetic variant is actually present. This may be due to limitations in the current knowledge about a gene's complete structure or it may be due to lack of knowledge of the effect of an identified variant on disease risk. The ordering physician and patient should understand that the methods used by GBinsight are accurate based on robust quality assurance standards. However, there is still some small chance that an error occurred during sample collection, DNA processing, library production, DNA sequencing or incorrect reporting of variants. GBinsight genetic tests currently are unable to detect some large genetic changes such as deletions, insertions or rearrangements that involve DNA sequences greater than 100 nucleotides. These large genetic variations may be a cause of a disease or disorder. A negative genetic test result may be a false negative because the test cannot detect some large genomic variations. Accurate interpretation of the test results may depend on knowledge of the true biological relationships within a family. In addition, some genetic risk is unique to a particular ethnic group. Failure to provide accurate information may result in incorrect interpretation of results and/or inconclusive test results. Verification of variants reported is recommended. Access to sequencing data, intermediate data files, and detailed analysis tools applied is available upon request.

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