Sample Reports

Viewing your report by selecting Search by Condition:

Selecting this option for viewing your Gene Essence Report allows you to browse the current set of SNP associations for a variety of health-related conditions. A drop-down menu provides easy access to a list of diseases and health-related conditions. Selecting one of these brings up the SNP association data along with your personal genotype. We will use Type 2 diabetes as an example:

When you select type 2 diabetes from the drop-down menu, a graphical display appears which contains your test results (genopype) for each SNP thgat is associated with Type 2 Diabetes and an overall summary of your genotype resulst for this condition.

Your SNP genotype is determined by testing your DNA for all the SNPs that have been found to be associated with this condition. The SNPs are shown along the bottom of the graph and are identified by a number beginning with "rs". Your DNA has been tested for each one of these SNPs and the SNP genotype results are displayed as a two-letter combination (e.g., AG, TT, CG, etc.) which appears immediately below the light blue bars at the bottom of the graph. You have two "letters" ( i.e., alleles - see Glossary) because you carry two forms of the SNP, one on each chromosome of a chromosome pair.

Next to your SNP genotype is a single letter (e.g., A, C, G, or T) which identifies the allele that is more frequently found in individuals who have the condition (in this case, Type 2 diabetes) than in those individuals who do not have the condition. This allele is called the risk allele because of its relationship and potential contribution to development of the condition. Note that your SNP genotype may or may not contain the risk allele.

The light blue bars at the bottom of the graph and immediately above the SNP genotypes show how your results for a specific SNP compare to results found in the general population (note: in most cases, the general population consists of Caucasians of European ancestry). For example, for the first SNP (rs1111875) with a SNP genotype of AG, the population frequency for this genotype (AG) is 48%. The specific population frequency value for each SNP genotype can be found by placing the floating arrow cursor on a blue bar. Results will be displayed as - Frequency in population: the SNP rs number, the risk allele, and the population frequency (%). Note that for this example (rs1111875) the individual tested here shares the same genotype (AG) with almost half of the general population. The population frequency value simply enables you to compare how common or rare your particular genotype is, with respect to other individuals.

The graph labeled Type II Diabetes - Odds Ratio provides meaningful information for each SNP you have been tested for with respect to the disease or condition. The bars associated with each SNP are color-coded to indicate whether you carry a single copy of the risk allele (yellow), two copies of the risk allele (red) or two copies of the non-risk allele (green). Most individuals will have a combination of yellow, red, and green bars.

The height of each bar indicates the relative strength of the association between a particular SNP and the condition. The values (Odds Ratios) for each bar are displayed when the floating arrow cursor is positioned over a given bar. The Odds Ratio is a statistical measure of the degree of the association between the SNP and the condition and is the way that scientific research results are conventionally reported (see the Glossary for a technical description of odds ratios).

The graph at the top of the display summarizes all of your genotype results. It is intended to provide you with a quick snapshot of your genotype profile for a given disease or condition. It summarizes the data by taking into account the relative proportion of risk vs. non-risk alleles you have been tested for, and gives you a way of comparing your results to others.

This tool is not intended to identify your relative risk for a given disease or condition for the following reasons: not all of the genes or SNPs have been identified for complex polygenic diseases (like Type 2 diabetes) and in fact the SNPs comprising the test panel may represent only a small number of the total genes involved with the disease or condition; it is not known which genes or SNPs are associated with major or minor effects, or how they might interact with each other. Finally, the total genetic component is often much less important than environmental factors when it comes to identifying risk for a disease.

The Genetic Trend bar summarizes all the SNP data and calculates a value (between 0-100) based on the total number of risk alleles you carry, either as a heterozygote or homozygote. This number also takes into account the odds ratio associated with each SNP. For example, if your SNP genotype was comprised exclusively of risk alleles for every SNP, your genetic trend score would be 100. On the other hand, an individual who carried no risk alleles at any of the SNPs tested would score 0. Most individuals will score in the mid range (in this sample case the individual has a genetic trend of 60), simply reflecting the fact that both the SNP risk alleles and the underlying genes associated with polygenic diseases and conditions are fairly common in the general population.

The Population with higher trend (%) bar indicates how your genotype for this condition compares to the rest of the general population. In this example, the individual has a score of 33. This means that 33% of the general population will have genotypes with genetic trend values greater than 60. You can use this information to get a general idea of how your genotype compares to others. For some diseases or conditions the value for the population with higher trend (%) may be small. This occurs when you have a relatively high genetic trend for a disease or condition, indicating that you have a larger number of risk alleles for that condition than most people. For other conditions the population with higher trend (%) value may be large, indicating that most individuals (a relatively high percentage of the population) carry a larger number of risk alleles than you do.

The Adjusted Trend bar is based on the values obtained for genetic trend and for population with higher trend (%). Each SNP and disease or condition association will be different, depending on how many SNPs are tested and how the risk and non-risk alleles are distributed among all the possible genotypes. This means that a direct comparison of genetic trend values cannot be made from one condition to another. In other words, a genetic trend value of 60 for Type 2 diabetes may not indicate the same risk level as a genetic trend value of 60 for Coronary artery disease. The Adjusted trend value allows genetic trends to be directly compared among diseases and conditions. The Adjusted trend value takes into account the fact that for each condition, a different proportion of the population will have a genetic trend value lower than yours. In order to allow you to see at a glance how your genetic trends compare from one condition to another we adjust the genetic trend by the population frequency distribution for that condition. In the example shown here, the individual has a genetic trend value of 60 and a population with higher trend (%) value of 33. The adjusted trend value is reported as 40. The adjusted trend will increase, when more people have a lower genetic trend than you do, and will decrease if fewer people do.

See the Glossary for a more complete description of terms (e.g., heterozygote, homozygote) and for how the values of the genetic trend, population with higher trend (%) and adjusted trend are calculated.

How to evaluate your genotype profile:

The example shown here is typical of the Gene Essence Report results for an average individual and a complex polygenic disease like type 2 diabetes. Most individuals will display a combination of genotypes containing both risk and non-risk alleles in all three combinations (red, yellow and green bars). This individual has been typed for 31 SNPs found associated with type 2 diabetes. The SNP-disease association data (odds ratios), risk allele assignments, and population genotype frequencies reported here are drawn directly from the scientific literature sources.

This individual is found to be heterozygous for 13 SNPs (yellow bars), homozygous for the risk allele for 7 SNPs (red bars), and homozygous for the non-risk allele for 11 SNPs (green bars). The actual numerical values reported for the odds ratios and population genotype frequencies can be found by moving the arrow cursor directly over a colored bar. For example, note that this individual has been typed at the rs10513689 SNP as homozygous for the risk allele (the risk allele is G, the individual’s genotype for this SNP is GG, the genotype assignment is therefore homozygous for the risk allele - red bar). The odds ratio value displayed by the arrow cursor (positioned over the red bar for rs10513689) is 3.0 and the genotype population frequency (arrow cursor positioned over the blue bar) for the GG genotype is 75%. Note that, risk alleles for common diseases like type 2 diabetes are frequently found in the general population. The genotype population frequencies help to put the risk association values (Odds Ratio) into perspective.

Important Considerations:

The entire genotype profile can be viewed this way for each disease or condition listed. While type 2 diabetes is associated with many SNPs, other diseases or conditions may have fewer associations and in some cases just a single SNP. This reflects the complexity of a given disease as well as the status of the current research.

In drawing conclusions from these results, remember that the SNPs are simply markers for the disease or condition and do not necessarily carry any predictive value in terms of assessing one’s susceptibility to a given disease. Most SNPs are associated with relatively modest effects (odds ratios less than 3) and the total genetic risk is often far outweighed by other environmental factors (diet, lifestyle, etc.) that contribute to overall disease risk.

The genotype population frequency data are derived primarily from Caucasian individuals of European ancestry. Genotype population frequencies can differ widely among various ethnic groups. If you are interested in looking up the frequency of other genotypes or for different ethnic groups you can use the links provided under the COMPLETE SNP DATA button under YOUR GENE ESSENCE REPORT.

SNP – disease associations are also specific to the population (geographic and ethnic background) comprising the research study. This means that some SNP associations might apply only to certain ethnic groups, while others might apply more broadly, after several different populations have been evaluated for the specific SNP – disease association. These data included in your Gene Essence Report reflect the ongoing nature of the genetics research and additional information can be found using the links provided under COMPLETE SNP DATA.

Viewing your report by selecting Search by SNP:

Selecting this option for viewing your GENE ESSENCE REPORT gives you another way to browse the current set of SNP associations for a variety of health-related conditions. A drop-down menu provides easy access to a list of SNPs, each of which has been associated with one or more conditions. Selecting a SNP brings up the SNP association data along with your personal genotype. All of the SNPs selected using this option are associated with genes, which are identified when the association data are displayed. We will use rs20541 as an example:

When you select rs20541 from the drop-down menu, a graphical display appears which shows that this SNP is associated with the Interleukin 13 gene. The genotype (CC) and risk allele (T) are also indicated.

The graph on the left displays conditions associated with rs20541 and the values for the risk association (another way of presenting odds ratios). In this case, the rs20541 SNP is associated with asthma, atopic dermatitis, and elevated IgE. The arrow cursor positioned over the bars display the values for the odds ratio (2.3 for asthma, 1.8 for atopic dermatitis, and 2.4 for elevated IgE). Note that the green bars indicate that this individual is homozygous for the non-risk allele (the color coding scheme for genotypes used here is the same as that used in the type 2 diabetes example).

The graph on the right shows the frequency of the three possible genotypes for rs20541 in the population. The dark.blue bar shows the frequency of the homozygous non-risk allele genotype, light. blue bar for the heterozygous genotype and yellow for the homozygous risk allele genotype. When the arrow cursor is positioned over these bars, the genotypes and their population frequency values (as a fraction of 1.0) are displayed (dark.blue: CC, 0.6; light blue CT, 0.4; and yellow TT, 0.1). The same considerations noted when searching by condition, apply here as well.