A DNA test, or genetic test, is used to analyze the hereditary information that is stored in our bodies. This information is stored in our bodies in the form of long DNA molecules. There are several ways and technologies that can be used to read and analyze this information.  DNA tests can be used to find out more about your ancestry, health risks, and more. However, there are a lot of DNA testing companies that offer different types of DNA tests. The choices can be overwhelming. This article will provide some tips on how to choose the best DNA test for you.

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Choosing the best DNA test is not easy because there are so many different types of tests available on the market today. But there are some important considerations that you should make before you purchase a test, such as:

• What type of information do you want from your genetic testing? 
• What does your budget look like?
• Do you want to know about your health risks or just about your ancestry?
• How long are you willing to wait for the results?

Glossary of terms

DNA - A very long molecule that is inside nearly all our cells, that stores information vital to our development and function 

Genome - the entire genetic information that is stored in our DNA. It is stored as a sequence of nucleotides. 

Exome - only the part of the genome that codes for proteins.

Gene - A part of the genome that codes for proteins (molecules that have specific functions). There are around 20 000 to 25 000 genes in the human genome. 

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What is genetic information?

Our DNA, which is found in almost every cell in our body, contains hereditary information that controls all the processes that take place within us. We get one half of it from our mother and the other from our father.

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Why is it useful to know your DNA?

Knowing your predispositions by taking a DNA test will help you get to know your body better. It will help you find out your inherited risks for disease, your predisposition to sports performance or sports injuries. This will enable you to prevent them much more effectively. You will also find out how your body absorbs vitamins and nutrients. Last but not least, you will also learn how your body processes frequently prescribed medications, which are often given to people on a trial and error basis. Knowing which medication is best for you, and discussing it with your doctor, will help you avoid problems with side effects or ineffective treatment.

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How do DNA tests work?

From the end user's perspective, it is a very simple process that starts with a painless saliva sample taken from the comfort of your home. Simply fill a collection kit in the form of a tube with a stabilizing solution with approximately 1 to 2 milliliters of saliva. The stabilizing solution in the tube is used to preserve the collected DNA so that it can be sent to the laboratory without degrading it.

It is crucial that the instructions of no eating, drinking, and smoking are followed 30 minutes before saliva collection. When not, it often results in contamination of the sample, which then significantly reduces the quality of the final DNA data.

Once the sample is sent back to the laboratory, the DNA analysis process begins. After unpacking the envelope, each sample kit is carefully checked. It is checked for its overall condition and whether it has been damaged during transport, but also for any visible impurities and other contaminants.

If the sample passes the quality control, it then enters the DNA separation process. In this step, the DNA is separated from the sample and prepared for further processing using appropriate laboratory procedures. Further processing consists primarily of the sequencing of the sample itself but is accompanied by several preparatory steps. Sequencing results in digital data in the form of genetic information that is stored in the human DNA molecules themselves.

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What types of DNA tests are there on the Market?

The available home genetic tests mainly differ in their quality and depth of reading. Many tests are purely to gain information for recreational purposes. Some are also useful for health improvement and prevention and few can be used to completely digitalize your whole genome. Companies all around the world use various techniques to provide genetic tests, which mainly differ in their depth, quality, and of course, price. The following information is up-to-date to the date of the last review of this article (25/03/2022). The most widely used methods are microarrays, whole-genome sequencing, and whole-exome sequencing. All are described below.

1) Microarrays

Using microarrays to analyze genetic information is a very widespread method in consumer genomics. Used by the major companies on the market like 23andMe or Ancestry, but also by tens of minor companies. All providers use pre-made “arrays” mostly made by the American company Illumina, that probe different pre-determined parts of the genome. [1]

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Pros

• Comes with an attractive price tag. The price can range from 69 USD to around 299 USD, depending on the specific provider.
• The selected parts of the genome a read with very high confidence and quality.
• Provides results about some specific risk variants for diseases, traits, and also for medication metabolic responses (the rate of your body’s response to medications).
• Can be also used to analyze your genetic ancestry (your origin)
• Higher-coverage microarrays exist but are rarely used by recreational genomic testing companies.

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Cons

• The standard microarrays analyze only a small portion of the human genome - roughly 0.1%.
• Many providers statistically impute the rest of the data to provide deeper results, but these lack confidence and quality, that just simply isn’t there from the beginning. Moreover, they don’t flag the imputed data, so there are very few ways to differentiate it from the data that was actually measured.

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Examples of products that utilize microarrays:

23andMe tests

Ancestry.com tests

DNAEra tests

Macromo DNA Premium (7260 CZK incl. VAT) uses microarrays with three times higher coverage and with extended coverage for areas related to drug metabolism. This test uses Infinium Global Diversity Array (GDA) with Enhanced PGx

Macromo DNA Health (4 990 CZK incl. VAT) and Macromo DNA Lifestyle (3990 CZK incl. VAT) use the microarray with standard coverage of the Infinium Global Screening Array (GSA) of the latest version

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2) Whole Genome Sequencing

Whole-genome sequencing is a technology that has the capability to read an organism's complete DNA sequence. It is quite new in the field of consumer genomics. It is sometimes also called NGS (Next Generation Sequencing). These tests provide people with their entire genetic information. [2]

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Pros

• Reads your entire genome, which doesn’t change as you age. This means that a single test can provide you with data that is relevant for the rest of your life. New scientific studies can be applied as they are discovered, giving you long-term advantages from a single test.
• The results can be used to accurately used to predict disease risks, genetic traits, reactions to medications, family planning reports, and ancestry.
• This method is best suited for family planning purposes. There are various mutations that many people carry unknowingly, that can result in diseases in their children. This testing can reveal your risks and help you to make better actions, which can include early treatment of your child. 

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Cons

• It Is significantly more expensive than using, microarrays, but the output is many times more accurate and valuable.
• It is important to be cautious about providers, that read your entire genome but with insufficient depth. It is necessary to read the entire genome at least 30 times, to really provide high-quality data for your future health.
• The price ranges from around 300 USD (sequenced in China, which has some known privacy issues including data trading and reporting) to around 3000 USD (high coverage sequencing in Europe)

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⚠️ Many providers claim that they can provide you with your high number of reports or even your whole genome based on microarrays, low coverage WGS, or other low-coverage tests. This most likely means that the data is imputed. Therefore, it was never really sequenced. No instrument has ever really measured the sequence in your genome directly. It is only statistically inferred and prone to be inaccurate, especially when used for the purpose of disease prediction.

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⚠️ Some providers subsidize their costs of sequencing by selling the data of their customers on the market or using it for their research. 

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Examples of products that use Whole Genome Sequencing 

Nebula Genomics ($299 + Lifetime Subscription of $199 or other options) - sequencing is done in China and might be also subsidized by research use of the data. Reports are easily comprehensible but lack guidance and recommendations. Basically, the reports are just links to studies with a few paragraphs of descriptions. The raw data that can be easily downloaded is of good quality. Nebula seems to have frequent problems with very bad reviews and long delays, as can be seen on its Reddit page. [3]

Macromo DNA Platinum (2404 EUR) - sequenced in Germany, under strict data protection, and never used for purposed other than to provide results to the user. One of the fastest services on the market.

Dante Labs ($550) - similar to Nebula Genomics. It takes very long to get results, which are mostly raw data. 

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3) Whole Exome Sequencing

A middle-ground approach that sequences only the regions of the genome that code for proteins (genes). Most diseases are caused by mutations in these regions. It is definitely a good approach to get more data for less money, but there are limitations to this approach as well. [4]

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Pros 

• Cheaper than the whole genome sequencing
• Provides a good overview of disease risks and other reports, including a wide range of family planning reports.

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Cons

• Less comprehensive reports, because the coding regions are only a small part of the whole genome. 
• This especially affects reports about medication response and some specific family planning reports
• Overall, there is less data, and this can also lead providers to use statistical imputation to present more results to the unknowing users.

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Examples of products that use Whole Exome Sequencing 

Circle DNA Premium ($503) - Circle is based in Hong Kong and doesn’t provide raw data, even when asked directly. We generally don’t trust much to providers that don’t provide raw data, because technically, they might be just doing very low-coverage testing and imputing the rest of the data, without anybody ever finding it out. Reports are well organized and thorough. Displayed in an app, but never linked to your lifestyle or other health data, which makes them very static. It is a one-time user experience. Circle has also acquired DNAfit, a UK company that provides similar tests.

Macromo DNA Family (15 990 CZK including VAT) - the test analyses all functional areas of your genome and effectively identifies genetic risks for parents. This allows you to find out if you or your partner is a carrier of any of the more than 100 diseases that can manifest in your children.
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Macromo Values and Approach to DNA Testing

Our tests unlock people much more than just static genetic results. Inside our application, people will be able to import various health data and track their lifestyles, because whether a disease develops or not depends on multiple factors that have to be considered together.

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Macromo connects genetic information, lifestyle data, medical history, and your environment into easy-to-grasp recommendations for long-term preventive care. We make generic health prevention personalized, fun, and actionable

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• Macromo’s approach to health prevention is holistic.
• We connect lifestyle with genetics and medical history.
• Your results are up-to-date with the latest scientific discoveries.
• Your data is anonymized and stored in safe storage. 
• Macromo adheres to all EU regulations in GDPR
• Clear and easy-to-use mobile application that gives you the most updated recommendations.

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DNA Tests by Macromo

Macromo offers multiple DNA testing solutions. Three tests are based on microarrays (Macromo DNA Premium, Health and Lifestyle). The other two are based on whole genome sequencing (Macromo DNA Platinum) and whole exome sequencing (Macromo DNA Family).

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Macromo DNA Premium

A comprehensive DNA test based on the analysis of the most important parts of your genome. Based on your genetic background, you will receive specific recommendations for optimizing your health and lifestyle.

• The ideal gateway to the world of personalized health care
• Get 237+ health and lifestyle results
• Includes a comprehensive risk analysis of common diseases and recommendations for health
• Simply in the comfort of your home, just a saliva sample
• You can get the results in the mobile app

See a detailed overview of the Macromo test results or view a sample results report in our mobile app

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Current price: available on our e-shop

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You can read more about other Macromo DNA Health and Macromo DNA Lifestyle tests on our website

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Macromo DNA Platinum

Whole Genome Sequencing based digitalization of the entire DNA, provides people with genetic risks for many diseases and also information about traits, medication response, family planning, and ancestry.

• The test is done by reading your genome over 30 times, to avoid errors.
• We connect the test results with a range of other health data sources, to provide you with even more accurate and actionable recommendations
• We provide an interpretation of the results in the mobile application. It is based on our own algorithms and credible scientific studies. This means that you won’t get just raw data as a result.
• Samples are sent and sequenced inside the European Union in a lab that provides a high level of data security.
• Our agreements make sure, that the lab discards both your biological samples (saliva) and your data after sequencing and uploading the data to our secured storage.
• We don’t sell your whole genome. It is stored (approximately 300 GB of data) securely in the cloud and you can download it anytime and check the data yourself.
• We never link any lab results with any personally identifiable information. Even the samples are assigned an anonymous ID, so the lab never knows your identity.
• Even Macromo employees cannot link your test results or health data to your identity or phone number from the app. 

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Reports are provided in-app about diseases and traits that are listed on the Macromo Insider (please note that we’re still expanding the reports portfolio extensively at the moment)

Current price: 2404 EUR, including taxes

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Conclusion

In conclusion, it is important to do research before making a decision on which DNA test to purchase. The most important aspect is to find out what you are looking for in the test and how much you are willing to spend. Using your genetic data in conjunction with your other health data is definitely a way how to make your effort in health improvement more focused and effective. All diseases that are included in the Macromo application and its reports are actionable, therefore you can prevent them, but most often only if you know the risks in advance.

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