How to read a Promethease report: A guide to understanding your DNA results

At-home DNA tests are the most informative they’ve ever been. Still, you can often get more value from your test by uploading your DNA file to an online platform like Promethease. 

Promethease is an affordable and handy tool that can connect your results with existing scientific literature and uncover additional insights into your health, traits, and ancestry. 

While it’s a highly popular platform that has been around for over 15 years, its interface and findings can be overwhelming. In this guide, you’ll learn how to read a Promethease report and use the platform’s features.

Bonus: We’ll also introduce you to Nucleus Premium, a DNA analysis that looks at nearly 100% of your genes and offers clear and actionable recommendations to improve your health.

Getting started with Promethease

To access Promethease’s services, you must first accept its terms and conditions, which inform you of the platform's risks and limitations. Next, you can upload your DNA file(s) or import it via a URL. Promethease accepts various file formats, including the ones from:

• 23andMe

• Ancestry.com

• FamilyTreeDNA (SNP test)

• MyHeritage

• NatGeo

• Complete Genomics

• Illumina GenomeStudio

• WeGene

Once you provide the data, Promethease will analyze it and generate your personalized report using information from SNPedia, an online database of genetic information.

The cost of your report depends on the size and number of your files. According to the company, most reports cost $12, and each additional file adds $4 to your bill. Promethease usually takes less than 10 minutes to generate a report, but it may need more time for large files, such as whole-genome data.

Bonus read — Read our reviews to discover the best DNA testing service for your needs:

• CircleDNA review

• 23andMe vs. African Ancestry

• MyHeritage vs. Ancestry

• 23andMe alternatives

How to interpret Promethease results: Main elements and terminology

In the following sections, we’ll break down a typical Promethease report and explain its terms and options. You’ll learn how to use Promethease effectively, including what the purpose of each feature is and how to make the most out of it. 

We’ve organized our guide into four parts based on the platform’s main elements:

1. Understanding geno sections

2. Using filters to fine-tune your results 

3. Accessing data visualization features

4. Searching your results

1. Understanding geno sections

When you open your Promethease report, on the left, you’ll see cards that describe the identified “genos” — genotypes and genosets within your DNA file. 

Promethease defines a genotype as a specific pair of genetic variants (different gene forms) you inherited from each parent at a particular SNP position. An SNP or single nucleotide polymorphism is a precise location in a chromosome where a single nucleotide (A, T, C, or G) varies between people. These variations can influence your predisposition to diseases and conditions like cancer or traits like eye color.

Coined by Promethease, a genoset is a term that refers to a defined set of genotypes at two or more locations in the genome whose presence together may indicate specific predispositions.

Source: Promethease

Promethease marks genos with a color based on their repute — a parameter that signifies whether the finding is “good” (green) or “bad” (red). Some cards may remain gray, which means they don’t have a classification yet or can’t be classified. 

Geno section elements

Learn about the meaning of common geno elements:

| Element                            | Example                                                                                                                              | Meaning                                                                                                                         |
| ---------------------------------- | ------------------------------------------------------------------------------------------------------------------------------------ | ------------------------------------------------------------------------------------------------------------------------------- |
| SNP ID                             | rs4307059                                                                                                                            | The specific location (SNP) within your DNA                                                                                     |
| Genotype                           | (T;T)                                                                                                                                | The specific genotype at the location                                                                                           |
| Text specific to your <br>genotype     | 1.42x risk of Autism                                                                                                                 | Your genetic predisposition to a trait, disease, or condition                                                                   |
| Text not specific to <br>your genotype | Worse cell adhesion in neurons.<br>Increased risk of [Autism Spectrum Disorders](http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3008767/). | Explanation or sources                                                                                                          |
| Magnitude                          | 3                                                                                                                                    | A subjective measure (1–10) of the interest and significance of the result, which can change based on community votes over time |
| Publications                       | 7                                                                                                                                    | The approximate number of published papers that support the finding                                                             |
| Frequency                          | 38.10%                                                                                                                               | The measure of how common the genotype is within your selected population

Some cards may also contain charts, links to relevant studies, and other helpful resources that can inform you about your predispositions or how to deal with them.

Bonus read — Check out our reviews of other services that can analyze uploaded DNA files:

• Xcode Life reviews

• Genetic Genie reviews

• Sequencing.com review

• tellmeGen review

2. Using filters to fine-tune your results 

Your Promethease report will present a large number of geno cards, but it’s neither necessary nor advisable to read through all of them. Some findings will be more reliable and valuable than others, as indicated by their magnitude scores. 

Instead of reading your Promethease report in full, use filters to narrow down the number of cards and remove those that aren’t worth your time. 

Source: Promethease

You can access the filters by pressing the settings button next to the search bar. Once you do, a menu will appear on the right side of your window. Within that menu, you can select the topics and medical conditions you’re interested in and change options such as:

• Sorting criteria

• Primary ethnicity

• Minimum and maximum magnitude, publications, and frequency

• The number of cards to display at once

Using the ClinVar filter, you can choose to see only SNPs that exist in NIH.gov’s database of clinically relevant variants. These SNPs have science-backed associations with diseases, conditions, and traits.

Tip 💡

If you want a clinical-grade DNA analysis with easily understandable reports, opt for Nucleus Premium. 

Nucleus’ whole-genome analysis can reveal a wealth of information about your genetics, including your risk for hundreds of common and rare diseases and conditions. You’ll get a detailed but clearly written report that lets you explore your results and access actionable advice for improving your lifestyle and health outcomes. Order your kit today!

[X](https://x.com/melanter/status/1782094104068862183)(630)

3. Accessing data visualization features

At the top of the settings menu, you’ll find a few data visualization tools that can help you better understand your filtered DNA results:

|            |                                                                                               |
| ---------- | --------------------------------------------------------------------------------------------- |
| <b>Table</b>      | A table view that provides a summary of your genos and their magnitude scores                 |
| <b>Graph</b>      | A representation of the connections between genos and currently selected categories or topics |
| <b>Categories</b> | A histogram showing the proportion of “good,” “bad,” and “not set” genos for each topic

Source: Promethease

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4. Searching your results

If you’re interested in a specific gene, trait, or medical condition, use the search bar at the top of your report. For genes and SNPs, you can use the standard genomics syntax, such as chr6:32600000-32700000. For other topics, you can write regular expressions, such as breast cancer, BRCA, or breast|ovar.

Promethease limitations to consider

Before investing in a Promethease report or taking any action based on its findings, you should be aware of the platform’s potential shortcomings:

1. Information overload

2. Poor user interface

3. Inaccessibility for non-experts

4. Results inaccuracy

1. Information overload

Without filters, your Promethease report will show over 20,000 entries, and most of them won’t be worth reading as they are based on weak scientific evidence. For example, in the sample Promethease report, only around 10% of all entries were clinically relevant. To focus on the most valuable results, increase the minimum magnitude score and the number of publications or use the ClinVar filter.

2. Poor user interface

Promethease’s interface is outdated and could entail a steep learning curve for first-time users. Some users also report bugs and claim that the platform has worsened over time, listing the search feature as the most negatively affected. This can be a significant issue as the search function is essential for navigating Prometheus’s reports due to their complexity.

3. Overly technical information

The platform is especially nonintuitive for those not knowledgeable in genetics due to its use of technical and scientific terminology. Additionally, Promethease doesn’t offer any actionable recommendations to help you deal with the potential health risks it identifies. 

As a result, you may need a consultation with a geneticist to understand your report and its implications.

4. Results inaccuracy

Promethease can sometimes provide inaccurate results, specifically false positives, though it may issue a warning in such cases. Many users report receiving a positive result for severe diseases and conditions like cancer, which would later be disproved with medical-grade testing. Some of these users say that the initial result induced stress and anxiety:

[Reddit](https://www.reddit.com/r/promethease/comments/vul9g1/comment/ifebcwg/?utm_source=share&utm_medium=web3x&utm_name=web3xcss&utm_term=1)(350)

As noted in the terms and conditions, Promethease is not suitable for diagnostic purposes. You shouldn’t take any result at face value, no matter whether it’s positive or negative. Instead, you should speak with a healthcare professional to identify significant findings and determine the best course of action. 

It’s also worth noting that some testing services whose DNA files Promethease works with can be unreliable and produce false results. Most of these services, including 23andMe and AncestryDNA, rely on limited genotyping technology and decode less than 0.1% of your DNA.

To fully understand your genetic predispositions, opt for a whole-genome test that can analyze nearly 100% of your genes. Nucleus uses the latest whole-genome sequencing technology to offer an accurate, clinical-grade analysis of your DNA, including the rare variants commercial tests overlook. 

Your Nucleus Premium report reveals your susceptibility to hundreds of diseases, conditions, and traits. It is easy to understand and contains concrete advice for improving your lifestyle and health outcomes. You can also book a consultation with a genetic expert, who can provide additional guidance on your results and the next steps.

[X](https://x.com/ddcaridi/status/1830031320946524274)(1100)

Get a reliable and accessible DNA analysis with Nucleus

Nucleus is a DNA platform offering a physician-approved test that analyzes nearly all of your genes and does so with 99.9% accuracy. Like with direct-to-consumer tests, you can collect your sample at home and get online access to your Nucleus genetic insights, including your predisposition to:

1. Over 800 diseases and conditions, including rare cancers and mental health conditions

2. Hereditary conditions that you might pass on to your offspring

3. Traits like intelligence, BMI, muscle strength, and longevity

Still, Nucleus is more comprehensive and scientifically rigorous than other at-home tests, providing a clinical-grade analysis conducted in fully regulated U.S. labs. Nucleus is also unique because it considers both genetic and non-genetic influences, such as your lifestyle choices and environment.

[X](https://x.com/nucleusgenomics/status/1782902542843641978)(600)

While Promethease’s reports are difficult to navigate and interpret for most people, Nucleus:

• Explains all terms in clear, jargon-free language

• Provides graphs to help you understand your results

• Includes lifestyle advice that you can start applying immediately

Besides that, Nucleus partners with SteadyMD, so it can connect you with a board-certified genetic counselor if you have any questions about your results or the best path forward.

Take ownership of your health — Order Nucleus Premium today

Although increasingly common, whole-genome tests are still costly, with most companies charging over $1000 for the analysis. With Nucleus Premium, you will get all available health and trait reports for only $399. Once you’re ready to take the test, order your kit:

1. Sign up for Nucleus Premium

2. Provide your personal information

3. Place the order

Your kit will be delivered to your door, after which you only need to swab your cheeks and ship the sample to the lab. Once Nucleus receives your sample, you should get your results within six to eight weeks. Nucleus is HIPAA-compliant and works with regulated labs only, so you don’t need to worry about the safety of your sample, results, or any other data. 

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We have many reviews of genetic testing services and technologies — take a look at the selection below:

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| ------------------------------------------------------------------------------------------------ | -------------------------------------------------------------------------------------------- |
| [Ancestry.com alternatives](https://mynucleus.com/blog/ancestrycom-alternatives)                 | [MyHeritage vs. 23andMe](https://mynucleus.com/blog/myheritage-vs-23andme)                   |
| [CRI Genetics vs. 23andMe](https://mynucleus.com/blog/cri-genetics-vs-23andme)                   | [Nebula Genomics review](https://mynucleus.com/blog/nebula-genomics-review)                  |
| [Myriad Genetics review](https://mynucleus.com/blog/myriad-genetics-review)                      | [Sequencing.com vs. Nebula](https://mynucleus.com/blog/sequencingcom-vs-nebula)              |
| [FamilyTreeDNA vs. 23andMe](https://mynucleus.com/blog/family-tree-dna-vs-23andme)               | [3x4 Genetics review](https://mynucleus.com/blog/3x4-genetics-review)                        |
| [Dante Labs review](https://mynucleus.com/blog/dante-labs-review)                                | [Natera vs. Invitae](https://mynucleus.com/blog/natera-vs-invitae)                           |
| [InsideTracker review](https://mynucleus.com/blog/insidetracker-review)                          | [InsideTracker alternatives](https://mynucleus.com/blog/insidetracker-alternative)           |
| [Function Health vs. InsideTracker](https://mynucleus.com/blog/function-health-vs-insidetracker) | [SiPhox Health vs. InsideTracker](https://mynucleus.com/blog/siphox-health-vs-insidetracker) |
| [InsideTracker vs. Marek Health](https://mynucleus.com/blog/insidetracker-vs-marek-health)       | [SelfDecode review](https://mynucleus.com/blog/selfdecode-review)                            |
| [Life Force Diagnostics reviews](https://mynucleus.com/blog/lifeforce-diagnostics-reviews)       | [Invitae review](https://mynucleus.com/blog/invitae-genetic-testing-review)                  |
| [Illumina Sequencing vs. Sanger](https://mynucleus.com/blog/illumina-sequencing-vs-sanger)       | [PacBio vs. Illumina](https://mynucleus.com/blog/pacbio-vs-illumina)                         |
| [Nanopore vs. Illumina](https://mynucleus.com/blog/nanopore-vs-illumina)                         | [Nutrigenomics](https://mynucleus.com/blog/nutrigenomics)                                    |

Featured image source: Gam-OI