DNA testing is everywhere these days, from ancestry tests to genetic tests that can tell you if you have genetic mutations and disease risks. It’s become so commonplace that we take for granted how new the scientific understanding of DNA is and how quickly it is changing.
With so many new companies and services to choose from, it can be a daunting task to find the best company; and once you have the results, it can be difficult to understand what the jargon actually means for you.
We’ve put together a comprehensive guide to genetic testing for health (a.k.a. “genotyping”) and reviewed 4 of the most popular genetic testing for health tools, with website tutorials to help you navigate the software. We’ve also answered common questions about the accuracy and legality of DNA tests and how to keep your information safe. We’ve also put together a list of resources to help you find genetic guidance after testing, so you can make informed decisions about your health.
What is genotyping?
Genotyping is not the same as DNA testing for heritage/family tree or paternity. Genotyping is an analysis of genetic variants specific to an individual, identifying genetic markers called SNPs: single nucleotide polymorphisms. Genotyping focuses on specific, selected genetic markers; whereas gene sequencing focuses on a string of DNA and is not offered to consumers at this time.
Genotyping is a process which requires a DNA sample and is usually done through the use of genotyping chips. These chips are focused on pre-selected variants to which they correspond; therefore, not all genotyping chips tests for the same variants, and there can be differences between companies and tests offered.
History of DNA
Despite the way we banter about DNA in casual conversation, and how easy it is to receive a home DNA test within the last decade, the science and history of DNA is much more complex. The rise of the consumer genetic test and “direct to consumer” genetic testing, along with the ease and simplicity of acquiring our own genotyped results, belies the complicated truths about DNA.
Our current scientific understanding of DNA has only been present since 1953–a mere sixty-six years ago from when this article was published. Though it is now a commonplace sight, the logos and background graphics of the double-helix structure you find on many consumer genetic test boxes is a relatively recent discovery that we owe to James Watson and Francis Crick.
Watson and Crick built upon the foundations of four other scientific advances that made it possible for them to discover DNA’s structure: the x-ray crystallography technique spearheaded by Rosalind Franklin; the belief that DNA in chromosomes were the sole contributors to heredity; the discovery of the equal base pairs in DNA sequences by Erwin Chargaff; and the discovery that protein molecules have helical shapes by Linus Pauling. By 1966, the complete sequence of a DNA codon was discovered, and the familiar sequence of three adjacent nucleotides as amino acids building blocks of DNA was established. 
History of Genetics and Genetic Testing
The pioneering advances in the study of DNA, led by Watson and Crick and the scientists who contributed before them, enabled us to have a better understanding of the sequences which determine so much of our genetic fates. However, the limitations of our understanding of DNA is still being challenged; most of what we refer to as “genes” only accounts for one percent of all of the DNA in our bodies.
As of a 2012 publication by the Genetic Literacy Project regarding the human genome (or complete set of genes in an organism), scientists believe that less than ten percent of our genome is functional and actively contributes to the genetic factors that are inherited. The other ninety percent of the genome is not understood at this time. Some theorize that it is “junk” consisting of biologically neutral material; some of which is retained fragments of inactive or dead viruses that our very, very distant ancestors encountered in the past.
Other scientists prefer to call the other ninety percent of DNA, which, at this time, appears to serve no purpose, “noise.” The most specific explanation for the remainder of material in human DNA can be thought of as parasites at the molecular level: transposons. Transposons are pieces of DNA which can jump around in a host. Transposons can also be found in plant DNA. The human genome contains upwards of fifty percent transposons (a large percentage when compared to some plant DNA which contains as little as 2.5%). 
While the specifics and understanding of DNA is relatively recent, the theory and practice behind genetics has been in use much longer. In 1865, Gregor Mendel discovered the fundamental laws of inheritance, which established that characteristics of organisms were due to an inheritance of genes. From there, other scientists discovered the number of the human chromosomes is forty-six, and as the technology of the late twentieth-century advanced, so did the field of genetics. 
The Human Genome Project was launched in 1990 and mapped the entire human genome, improving genotyping and gene sequencing techniques along the way. As genotyping techniques improved, the implementation of direct to consumer (DTC) genetic testing was made possible. Prior to the flood of direct to consumer genetic tests in the last decade, genetic testing was performed under a physician or genetic counselor. 
Direct to Consumer Genetic Testing History
Direct to Consumer (DTC) Genetic Testing began around the year 2000 with now-extinct company GeneTree, which was sold to Sorenson Molecular Genealogy Foundation and was then passed onto Ancestry.com. Family Tree DNA began their business in partnership with the University of Arizona to provide DTC testing for genealogy with Y-DNA and mitochondrial DNA tests.
The first company to provide DTC genetic testing through a saliva sample was 23andMe in 2007. 23andMe pioneered using autosomal DNA (which is now used by most, if not all, DTC companies) and offered only ancestry testing at that time. 
Since the inception of DTC genetic testing, there have been many companies that joined the DTC testing movement. Some of these companies are no longer functioning, and some have been bought up or partnered up with other businesses and brands.
What can genotyping tell me?
There are some things that genotyping can tell you, and some things that are outside of its realm.
- Estimate risk for diseases
- Tell you if you are a carrier of a disease
- Provide personalized health information and trait information
- Make you more aware of better choices for your health
- Tell you if you’re going to develop a disease with any certainty
- Tell you if you’re going to develop a cancer with any certainty
To many people seeking DTC genetic testing, it may not make a lot of sense that genotyping can estimate a risk for a disease but is not capable of telling you whether you may actually acquire that disease. The reason for this lies in the many factors which contribute to an individual acquiring a disease.
There are many factors that influence whether an individual will acquire a disease, such as age, gender, diet, exercise, individual and family medical history, and ethnic background. Genotyping can only tell you that you have genetic variants that have been associated with particular diseases. This does not mean that if you have the variant you will acquire the disease, and likewise, it cannot tell you that because you did not have the variant that you will not acquire the disease.
The extent of genotyping for disease risk is an estimation; it is a pattern of variants which are a common link between people who have acquired a specific disease(/s). Keep in mind that even though there is a pattern of commonality between people who share a disease, it does not offer any information on what factors in those individuals’ lives also contributed to the disease acquisition.
The best thing that can come out of genotyping for a disease risk is that you discuss your results with a doctor or genetic counselor and become more proactive and interested in advocating your own health.
- Gene: A physical unit of inheritance that is responsible for traits in both animals and plants. 
- Genotype: Individual’s genetic makeup. Refers either to whole genetic makeup of an organism or alleles at a specific location. 
- Phenotype: The physical expression of a genotype; observable characteristics of an organism. 
- Allele: Alternate varieties of a gene. They occupy the same position on chromosomes but can result in different expressions of the trait. 
- Dominant allele: An allele that is expressed if an individual is heterozygous or homozygous dominant. Dominant alleles do not allow recessive alleles to be expressed. 
- Recessive allele: An allele that is not expressed if there is a presence of a dominant allele. Expressed if an individual is homozygous recessive. 
- Chromosome: Made of DNA and protein, they are the gene-carrying bodies contained in the nucleus of cells. They are thread-like structures. There are 46 chromosomes in body cells and 23 in sex cells. 
- Nucleotide: A nucleotide is a single building block of DNA. The building blocks are linked together and forms a chain of DNA. The nucleotides are adenine (A), thymine (T), cytosine (C), and guanine (G). 
- SNPs, single nucleotide polymorphism: pronounced as “snips”. SNPs are a type of genetic variation which represents a nucleotide. SNPs may replace the nucleotides; for instance, on a chain of DNA where a C (cytosine) nucleotide would normally occur, it replaces the C with an A (adenine).
SNPs occur approximately once every 1,000 nucleotides, and there are 4-5 million SNPs in an individual human’s genome. The SNPs may affect a gene’s function if it is within a gene or in a region near the gene, but most SNPs do not affect development or health. 
- Polygenic trait: Inherited traits, such as skin and hair color. They can be blends of genes at two or more locations and can be influenced by the environment. 
- Carrier: Individuals who do not show signs of a trait in their phenotype but can pass it along to their children. 
How genetics and traits work
Genes are arranged in pairs, and you inherit one copy of your parents’ genes each to complete your individual gene pair. Chromosomes determine your gender and are passed down from your parents. It is your father’s chromosomes which determine your gender. The female chromosome (X) is passed down from your mother. The father can pass down an X, or a male chromosome (the Y chromosome). If you receive two X chromosomes you will be female, and if you receive an X and a Y, you will be male.
The way you look is an observable trait and is called your phenotype. Phenotypes are a result of both your genes and your environment. Some phenotypes are affected by SNPs and can tell you if you’re predisposed to like the taste of cilantro or Brussels sprouts and more. Most polygenic traits, such has hair color and skin color probability, are included in the estimations you receive in consumer genetic test results because of your genotype. How it is expressed is based on your phenotype, which is why some people are confused that their DNA states their eye color should be different than what it is.
DNA Testing Basics
DNA for genotyping is extracted from the salivary cells donated in a sample (either a very small collection cup or a cheek swab). Through a process called amplification, the DNA is duplicated, then broken into small pieces which are applied to a genotyping chip. 
A genotyping chip is also called a microarray or SNP array, and it consists of a glass slide. The surface of the slide contains millions of raised, microscopic beads. These beads are then attached to a very small sample of DNA, and each bead represents the genetic variants for which the sample is being tested. 
How is it different than a DNA test for genealogy?
DNA tests for genotyping are different than tests used for genetic ancestry or paternity. It is possible to use DNA tests that have been conducted for ancestry to go on to test additionally for health genotyping.
The types of DNA tests you will encounter are: autosomal, Y-DNA, and mitochondrial DNA (mtDNA).
Autosomal testing can be done with either males or females, and it looks at genes that you have inherited from both your parents (X and Y) and represents your mother’s side (mitochondrial DNA) and your father’s side (Y-DNA). This is usually the basis for any genetic ancestry testing. It is commonly used in genetic health testing.
Y-DNA is a test that can only be performed with males, as it only tests the Y portion of the DNA from male to male in a family. This would be DNA from a male going back to his father, going back to his father’s father, going back to his father’s father’s father, etc. This is useful for performing deep genetic ancestry lineage for males-only.
Mitochondrial DNA (mtDNA) is a test that both males and females can take because both genders have mitochondrial DNA (the X chromosome you inherit from your mother). Mitochondrial DNA only tests the X portion of the DNA from female to female in a family. This is DNA from either a male or a female going back to his/her mother, his/her mother’s mother, and his/her mother’s mother’s mother, etc. Again, this is useful for performing deep genetic ancestry for females only.
Once your DNA sample is sent off in the mail, it will take a few weeks to get results. Here are some of the turnaround times for popular DNA services:
|DNA Testing Company||Turnaround time to receive results after mailing off your sample|
|National Geographic/Helix||4-8 weeks|
DNA Company Comparison
|DNA Company||Health Genotyping||Ancestry/ Heritage Results||Cost||Can you use raw DNA to Upload to a 3rd Party service?||Type of DNA: autosomal, Y-DNA, mtDNA|
|✔||✔||Health & Ancestry: $199Ancestry only: $99||✔||All 3 types in only test offered: autosomal, Y-DNA, mtDNA|
|✔||$99.99||✔||All 3: autosomal, Y-DNA, mtDNA|
|✔||Autosomal: $79Y-DNA: $169-$649||✔||Autosomal|
|✔||$109 ($99 kit cost + $10 shipping)||✔||Autosomal|
|✔||$149 for kit & Annual SubscriptionOr$289 for kit and Lifetime Membership||✔||Autosomal|
As you can see, it depends what your focus is when you are selecting a DNA test: whether you are focused on health or ancestry. It is entirely possibly to take an ancestry test and upload it to a third-party health service, while there are a few companies which offer both health results and ancestry results in the same test.
If you have taken a health test and want to get ancestry information for it, it depends which type of DNA test you took for health (autosomal, mtDNA, or Y-DNA). Regular ancestry DNA testing primarily uses autosomal, unless you are looking for deep ancestry with Y-DNA or mtDNA. You will need to find an ancestry DNA company that will accept an upload of the type of DNA you have already received results for, or you may take another test with that specific ancestry company.
What is a third-party genetic health testing service?
There are many third-party genetic health information companies which have become popular. These are companies which you do not send a sample kit into, but rather, you upload your raw DNA results to their websites for a fee. These companies use proprietary software to analyze the raw DNA and pick out particular SNPs and genes to tell you more about the health aspects of the DNA.
Popular third-party testing services include XCode, FoundmyFitness, Promethease, and SelfDecode. SelfDecode is the only DNA test on the market right now that offers testing at their company and also uploading to use it as a third-party genetic health testing service.
Are consumer genetic tests accurate?
We have come a long way in the accuracy of genotyping and gene sequencing, but there are still considerations to be made regarding consumer genetic test accuracy. Due to the fact that different companies use different genotyping chips, it is possible for there to be variances between companies. There is no standard of care/governing agents/certifications regarding genetic testing that you do at home, without the intermediary of a physician or genetic counselor.
In order to make sure you are doing business with a DTC genetic testing company who is certified, ask for information about their CLIA status (Clinical Laboratory Improvement Amendments). 
A study performed at a certified laboratory involved 49 samples from patients. These patients had taken a DTC genetic test, and their DTC reports told them they had a genetic mutation that could cause a disease. 40% of the samples studied were incorrect, and the genetic mutation was not found at the certified laboratory. 
It is also possible for one company to highlight a particular gene as harmful, and a test taken at a different company to either not test for it altogether or report their understanding of the risk differently.
Some companies rate genetic variants and the possible risk they pose to the test takers by varying degrees, such as a mild likelihood that it could turn into something serious, to medium to high. While much of the information and algorithms used by direct-to-consumer genetic testing companies is scientifically sound and supported, there is a chance that the accuracy may be misrepresented. The reason for this can simply be that the research for genetic variants changes all the time; a test that you took which did not flag a specific variant may not be accurate a year later, if that variant has been further researched and associated with a disease and added to the list of concerning SNPs at a later date.
Genetic tests may also give false reassurance to consumers in this way. The genetic testing companies are not seeking people out as the information updates or changes, so consumers can have false reassurance that they do not have any concerning genetic variants. The varying degrees of concern that some companies use when rating a low to severe likelihood of the gene becoming problematic can also give consumers false reassurance. At one time the gene may be associated with a low likelihood but change in the future to a high likelihood, without the consumer being notified.
It is reasonable to say that genetic testing results you may receive are accurate at the current moment that you receive them, but they may not be accurate in the future. It is important to keep your raw DNA data so you can pursue reassessment of your results and guidance from a physician or genetic counselor in the future, as information and science continue to advance. 
Are DNA tests safe?
The safety issue of direct to consumer genetic testing (DTC) is controversial and debatable. There are many supporters of DTC genetic testing who believe that it removes the intermediary of having to go through a doctor or genetic counselor and puts the power back in the consumer’s hands. On the other hand, there are those that believe that the information presented in DTC genetic testing can be misused and misunderstood, and they may lead to legal, medical, and psychological conflicts.
As well as conflicts for the individual, the issue of due diligence on behalf of physicians has also been debated. The concern that DTC genetic testing leaves physicians unable to keep up with consumers that have taken genetic tests, when new, ever-changing research and science connects certain SNPs or genes to diseases, is a hot-button issue. Many people believe that it will leave doctors open for malpractice accusations.
We will outline the legalities involved within DTC genetic testing below, so you can make an informed decision.
Adults and minors’ rules
One of the grey areas that DTC genetic testing begins with is: how do you know the information submitted is for the person listed on the paperwork? Due to the fact that the samples are collected in the privacy of the home, and there is no insurance or identification verification involved, it is possible for samples to be sent in under false pretenses. It also brings up the issue of consent.
The consent of minors falls into this category.
|DNA Testing Company||Do they allow testing of minors (children under the age of 18)?|
|· Minors must be at least 13 years of age· Must accept and agree to terms of services themselves |
|· May be performed for children under 18 with parental/guardian consent· Account must be managed by parent/guardian and not the child |
|· Minors must be at least 13 years of age· For ages between 13-18, parental permission required |
|· No testing of minors· Must be 18 years of age to use services |
|· No testing of minors· Must be 18 years of age to use services |
HIPAA doesn’t apply
A concern with the legality and privacy of DTC genetic testing is that HIPAA doesn’t apply. When you go to a genetic counselor a doctor to have genetic testing performed, your results and rights are protected by HIPAA (Health Insurance Portability and Accountability Act). However, when you seek out genetic health testing as a consumer, and you lose the intermediary of a physician’s office or genetic counseling office, you also lose your rights to HIPAA. The reasoning behind this is complex.
HIPAA’s privacy rule does protect genetic information, but because of the way in which DTC genetic testing companies operate, HIPAA does not apply. Due to the fact that DTC genetic testing companies interact directly with consumers rather than through doctors and genetic counselors, they are not considered “covered entities” or “business associates,” and HIPAA does not apply to any companies which do not fall under those criteria. 
There is a federal Genetic Information Nondiscrimination Act (GINA) which protects the public from discrimination because of genetic testing when they seek employment or health insurance coverage. This is consolation for those who have gone through genetic testing and fear that they will experience discrimination, but DTC testing may not apply to either the GINA act or HIPAA. 
The reason that individuals may not be protected under either of these acts is because GINA prohibits discrimination based on someone who hasn’t been diagnosed with a disease yet. If a disease has not been diagnosed, then it is regarded as not having manifested yet. However, because of the genetic tests (like DTC tests) that find genetic markers present, the markers themselves can theoretically be regarded as a manifestation of a disease, which leads it down the path of being eerily close to being a diagnosis of a disease, leaving the individual unprotected under the outdated, 20 year old framework of GINA. 
Also, GINA does not protect consumers who are seeking life insurance, short and long-term disability insurance, the military, or long-term care plans, which means that you will have to disclose the conditions to which you may be predisposed for plans outside of regular health insurance. 
The lack of legal protection for consumers’ genetic information is a long-standing issue which, at this time, offers no extra-legal protection. When you take a genetic health test as a consumer, you are relying on the transparency of the company and hoping that their ethics keep your information safe. With that being said, which companies work to make sure your genetic information is safe?
Which companies are more transparent than others?
When conducting research into the privacy policies of genetic health DNA testing companies and third-party genetic health reporting companies, there were two companies which stood out as potential offenders in not keeping consumer genetic data safe.
23andMe discloses that they work with pharmaceutical companies and disclose your genetic information to third-party companies for research purposes.
XCode also stood out a little suspiciously, though it was not related to selling your genetic data. Instead, XCode had a long paragraph in its terms and conditions that disclosed that it uses Google Analytics to track you across sessions on different devices. It did offer a link to opt-out of Google Analytics, but in the paragraph where it offered said link, the link was nowhere to be found.
Another strange thing about XCode is that its terms and conditions say that any dispute or issue related to their terms and conditions will be submitted to the courts of Chennai, India.
We could not find any disclosure for either keeping data private or selling it on FoundmyFitness.
The majority of the DNA testing companies are transparent and have mention of them not selling your data and keeping it safe within their terms and conditions. The companies we researched which do not sell your data include: SelfDecode, Ancestry, National Geographic/Helix, Family Tree DNA, and Promethease.
Most companies do allow you to remove your genetic data from companies after filling out a form or requesting it. Some companies do offer the ability to have the actual DNA sample destroyed as well.
The risk comes from doing business with companies that sell your genetic data. Although a breach in safety can occur with any institution or company, the real problem lies in the companies that have chosen to sell your data. Even if the data is used for informational or scientific purposes, it can still represent a risk. You may be able to ask the company you took the test with to destroy your results and even your sample—but once the information leaves the company and goes to third-party companies, you won’t be able to revoke your data or even know the names of companies to which your data was sent.
If my genetic data was compromised, what would it say and how could it be used?
Raw DNA is a string of nearly indecipherable sequences of the nucleotides represented by letters (A, G, T, C). Unless you put this information into a software platform, it just remains an extremely huge file of letters and patterns, which is why so many companies put it into a zip file to compress it.
Most companies keep what is called “de-identified aggregate data” or “de-identified individual level data.” De-identified aggregate data does not include information, such as what percentages of ethnicity you are in ancestry tests. The risk comes from de-identified individual data which, although it doesn’t use your name, contains all the information about your individual genetic makeup which could be used to identify you. Research has confirmed that is possible to use this data to link back to you, but the technology and expertise required for it reduces the chance of it actually happening. (See study about re-identifying here)
There is also a risk that even if you do not take a DNA test yourself, if your family has taken a DNA test (either for ancestry or genetic health information), the anonymized data may be used to identify you through the relationships and connections between family members. This example was made famous by the Golden State killer case, when police used DNA from a crime scene and genealogical DNA research to track down the murderer, who had never taken a DNA test himself.
Why is there a risk to doctors and physicians?
One of the risks with the legality of DTC genetic testing is the unknown territory that affects doctors and physicians.
If new research is discovered that links a certain SNP to a disease, and the doctor or physician knows that their patient took genetic testing in their home as a consumer, is the doctor or physician liable to have to track down every patient of theirs to search their consumer genetic testing and tell them of this risk? If they do not make an effort or due diligence to seek people out after information has come to light, can a patient later sue the physician for not warning them? And, is it even possible to expect doctors or physicians to keep up with the demands of notifying everyone who has shown a marker for a disease for which they might need further testing or preventative care? (Read the discussion here: )
Are third party genotyping services as safe as major companies?
Third party genotyping services can be safe, but we encourage you to read the terms and conditions of all third-party services to which you can upload your raw DNA data, and to be aware if your data will be sold to other companies.
It is also a good idea to be selective when you are choosing a third-party service because some of the companies may use genotyping chips which are inferior to others (the amounts of SNPs the chips can test for may not be as plentiful as other companies). Transparency when it comes to these issues is of utmost importance, so if you’re unable to find this information or unable to get an answer from contacts at the third-party service, it may be a wise idea to give that company a pass and look for more reliable companies.
Offers Health Genotyping and Ancestry/ Heritage Results
Type of DNA: All 3 types in only test offered: autosomal, Y-DNA, mtDNA
Offers Ancestry/ Heritage Results Only
Type of DNA: Autosmal
Offers Ancestry/ Heritage Results Only
Type of DNA: Autosomal, Y-DNA, mtDNA
Offers Ancestry/ Heritage Results Only
Type of DNA: Autosomal
Offers Ancestry/ Heritage Results Only
Type of DNA: Autosomal
Offers Health Genotyping and Ancestry/ Heritage Results
Type of DNA: Autosomal
Third-Party Genotyping Service Company Comparison
|Third-Party Genotyping Service Company||Information Covered||Number of SNPs Tested||Cost to Upload/ Receive Report||Benefits||Is it easy to use?|
|Diet, fitness, personality, mood, MTHFR, APOE, cognitive, essential minerals, sleep, vitamins, cardiovascular, inflammation, fitness||900,000||$59 Annual Membership$199 Lifetime Access Membership||CommunityPersonalized Genetics BlogHealth Practitioner Plan, meaning your doctors can become members and access your health information and stay on top of your possible genetic insightsLifetime Plan gives access to all DNA wellness reports and all SNP-based updates in the future (for your entire lifetime)30-day Money Back Guarantee||InteractiveReports are colorful, detailed, and have hyperlinks built-in to access more informationAll scientific studies and resources are hyperlinked for quick referenceProvides suggestions to optimize health based on your genetic variants|
|Disease variants||107,010||Free(until the end of 2019 due to acquisition by MyHeritage)||Interactive interfaceAbility to search and apply filters to your report information||InteractiveMedium-Hard difficulty to navigate siteCan apply filters to specific disease variants to make it condensed for better navigability|
|Vitamins metabolism, fatty acid metabolism, fat metabolism, carbohydrates metabolism, sleep, exercise, cholesterol metabolism, HMG-CoA reductase inhibitor metabolisms, APOE, MTHFR, telomere report||605,000-650,000||$10(suggested donation amount for full comprehensive report, services are donation-based “pay-what-you-can” for individual reports)||Be a patron and support site with a monthly financial contribution and receive perks for patron subscriptions from $10/$25/|
$125 Google hangout meetings with Dr. Rhonda Patrick Community Q & A sessionsNewsletter
|Download, non-interactive report; but concise and easy to understandBlack and white textLinks and hyperlinks to more information built-in for quick referenceSuggestions are general and based on genetic variants|
|Best Seller Pack: Nutrition, health, fitness, skin, allergy Super Pack: Nutrition, health, fitness, skin, allergy, MTHFR, precision medicine Mega Pack: Nutrition, health, fitness, skin, allergy, MTHFR, Precision medicine, carrier status, Traits & Personality||650,000||$49 Best Seller Pack $89 Super Pack $99 Mega Pack||Compartmentalized into groups, rather than SNPs (such as grouped with vitamins with sections on Vitamin A, D, C, etc). It does list the SNPs underneath.||Download, non-interactive report; but easy to understandColorful pie charts and graphs make it easy to understandSuggestions based on your genetics|
Information Covered: Diet, fitness, personality, mood, MTHFR, APOE, cognitive, essential minerals, sleep, vitamins, cardiovascular, inflammation, fitness
Number of SNPs Tested: 900,000
Cost to Upload/ Receive Report: $59 Annual Membership; $199 Lifetime Access Membership
Personalized Genetics Blog
Health Practitioner Plan, meaning your doctors can become members and access your health information and stay on top of your possible genetic insights
Lifetime Plan gives access to all DNA wellness reports and all SNP-based updates in the future (for your entire lifetime)
30-day Money Back Guarantee
Is it easy to use? Interactive
Reports are colorful, detailed, and have hyperlinks built-in to access more information
All scientific studies and resources are hyperlinked for quick reference
Provides suggestions to optimize health based on your genetic variants
Information Covered: Disease variants
Number of SNPs Tested: 107,010
Cost to Upload/Receive Report: Free (until the end of 2019 due to acquisition by MyHeritage)
Benefits: Interactive interface
Ability to search and apply filters to your report information
Is it easy to use? Interactive
Medium-Hard difficulty to navigate site
Can apply filters to specific disease variants to make it condensed for better navigability
Information Covered: Vitamins metabolism, fatty acid metabolism, fat metabolism, carbohydrates metabolism, sleep, exercise, cholesterol metabolism, HMG-CoA reductase inhibitor metabolisms, APOE, MTHFR, telomere report
Number of SNPs Tested: 605,000-650,000
Benefits: Be a patron and support site with a monthly financial contribution and receive perks for patron subscriptions from $10/$25/$125
Google hangout meetings with Dr. Rhonda Patrick
Community Q & A sessions
Is it easy to use? Downloadable, non-interactive report; but concise and easy to understand
Black and white text
Links and hyperlinks to more information built-in for quick reference
Suggestions are general and based on genetic variants
Information Covered: Best Seller Pack: Nutrition, health, fitness, skin, allergy
Super Pack: Nutrition, health, fitness, skin, allergy, MTHFR, precision medicine
Mega Pack: Nutrition, health, fitness, skin, allergy, MTHFR, Precision medicine, carrier status, Traits & Personality
Number of SNPs Tested: 650,000
Cost to Upload/Receive Report: $49 Best Seller Pack; $89 Super Pack; $99 Mega Pack
Is it easy to use? Downloadable, non-interactive report; but easy to understand
Colorful pie charts and graphs make it easy to understand
Suggestions based on your genetics
Understanding Your Genotyping Results
How to Navigate SelfDecode Results
SelfDecode results are fairly straight-forward. After your login, you will see this screen
Click on the Wellness Reports Tab (circled in red in the screenshot above)
This will bring up a page where you can select which Wellness Report you’d like to Download and also shows you extra reports you can upgrade to receive specific reports:
This is an example of an Introductory DNA Wellness Report after download:
The Wellness Reports have a handy Table of Contents which has built-in hyperlinks to take you to the sections:
From here, you can navigate through the report. This is an example of the Nutrition Section Results:
It clearly breaks down your genotype and recommendations (circled in red areas above)
One of the most interesting sections of the SelfDecode website is the Symptoms Analyzer. Click on the “Symptoms Analyzer” tab at the top of the page:
From there, you can type in a symptom in the search bar and choose from the drop-down menu:
It will bring up a Symptoms and Conditions page that looks like this:
If you click on a specific condition, it will bring up a page that describes in detail which SNPs are contributing:
Another feature of SelfDecode’s website worth mentioning is the My Genetics tab, which offers Health Suggestions, Health Categories, Gene Packs, My Bookmarked SNPs, My Potentially Bad Genes, SNP Explorer, and My Potentially Bad and Rare SNPs.
Click on the My Genetics tab:
With SelfDecode’s Health Categories, you can select Genes, Diseases, or Substances to Search:
You can search Substances (caffeine, for instance):
An interactive chart will come up which identifies which SNPs interact with the substance and whether there is an interaction between the gene and the substance:
If you hover over an SNP, it will explain which gene is affected and what the gene does:
SelfDecode’s SNP Explorer breaks down all the SNPs which you can adjust the page criteria based on genotype, frequency, trait info, importance, and you can also bookmark SNPs you are interested in:
SelfDecode’s Potentially Bad Genes allows you to explore genes which have the potential to cause complications in your health:
You can search for a disease in the search bar on the page. The next page it shows you after you click “Filter Results” will either display genes that you have which contribute to that disease, and if you do not have any genes which may contribute to the disease, it will be blank and show “None results.”
How to Navigate Promethease Results
Promethease is not the easiest software to use, but with a few filters, it becomes very simplified and can give you a lot information if you know how to properly use it.
After you log in and have uploaded your raw DNA data file, you will reach a page that looks like this:
Click on the three dots on the left side under actions, next to the file you uploaded.
The next page you see will look like this and contains an on-screen tutorial which you can either skip or navigate from info blurb back and forth:
The on-screen tutorial breaks down exactly what each section means:
It will also point out the right-hand section of the page where there are many tools and filters to apply:
There are 33 information blurbs in the on-screen tutorial.
Promethease is developing a Blood Type Predictor, which you can explore by clicking the Blood tab:
To Filter Results with Promethease, do the following steps:
- Increase the Magnitude:
2. Increase the Publications (to a minimum of 3)
- Choose your ethnicity:
4. Click the Customize Populations button at the bottom of the pie chart:
Then you will see that if you hover your mouse over the pie chart, it will quantify your genes based on “Good,” “Bad,” or “Not Set”. Applying these filters reduces the genes and diseases down to a much more manageable report.
Another feature of Promethease is the ClinVar button which you can click after you applied the filters and it will bring it to the screen:
From here, you can see the pie chart is now at the top, and what is displayed on the screen are those genes which have been filtered:
You can also search with any of the tools on the right-hand side for diseases or medical conditions.
How to Navigate FoundMyFitness Results
Once you have an account with FoundmyFitness and you upload your DNA file, you will be able to access the Comprehensive Report:
Once you download the report/s, you will find the PDF in Adobe Acrobat Reader:
When you scroll down, you can see the suggestions and explanations of what SNPs are involved:
Here is an example of the hyperlinks and references to scientific studies which can give you more information:
How to Navigate Your XCode Results
The Mega Pack is the most comprehensive report, and after you have created an account and uploaded your DNA, it will download all the reports in several PDFs which you can then open in Adobe Acrobat Reader:
Next it will break down whether your outcome of having certain outcomes because of genes from mild to moderate to high:
Other PDFs, such as this one on nutrition, will have a pie chart which summarizes what suggestions will work best with your genes:
XCode breaks the diseases and vitamins, etc., into groups, rather than on certain SNPs, which makes it very easy to understand. It also gives you the information of which genes were analyzed, and suggestions you can take:
Nootropedia Final Review
Each of the 4 third-party genotyping services we reviewed (SelfDecode, Promethease, FoundmyFitness, and XCode) present most of the same information, but it’s the way that the information is presented which makes them stand out in their own unique way.
Each of the services has advantages, and FoundmyFitness and SelfDecode are similar because they facilitate community involvement after the results have been given. This is an important point because consumers can feel that once they receive their results, they don’t know what to do next or who to talk to.
Promethease is a good tool for those who want to roll their sleeves up and dig into the data, but it does require much more user involvement. Promethease was just acquired by MyHeritage, so we can’t say for how long the platform will stay the same, or if it will function differently from the year 2020 forward.
XCode presents the information in a format which is easy to understand, but some of the information in their terms and conditions is suspicious, and they are not a U.S.-based company.
In our eyes, SelfDecode provides the best user experience. We can say this with confidence because SelfDecode tests the most SNPs available today at a CLIA certified lab and provides many, many extra ways to keep the consumer involved. One of the most important services that SelfDecode offers is its Health Practitioner Plan, which allows your physician to stay updated and access your results. This is optional, but because of the ever-changing science behind genetics, it can make a big difference because it allows your physicians to get involved with your individual genome.
One of the other benefits that SelfDecode provides is its Lifetime Membership. This may sound like a foreign concept because, at the moment, SelfDecode is the only company offering a membership. However, what this means for the consumer is that they will automatically update your reports as the science changes. The Lifetime Membership provides Full Access to upcoming SNP-based updates with no additional charges, so you won’t have to worry about the science changing without your knowledge and not being able to keep up. This is the real benefit to choosing a Lifetime Membership with SelfDecode.
If the Lifetime Membership doesn’t seem like it’s for you, you can still receive 2 Premium DNA Wellness Reports per year with their Annual Membership. Again, access to reports that occur more than a one-time event is important, so you’re not just left hanging after you receive your initial results. This can give you peace of mind that if science changes and the views of your SNPs change, you will also be aware.
Don’t let your results make you a hypochondriac
While genetic testing results can help you tailor your habits to reduce risks of diseases, alert you of disease risks, and can be entertaining, genetic testing can also increase anxiety and worry. Without a physician or genetic counselor with whom to discuss results, genetic testing can strike panic in an individual and their family. It’s important to understand that the results can be life-changing and to make sure that you are ready for the information you may learn.
There can be very real psychological impacts after receiving results from genetic testing, especially in carrier status. The anxiety of passing down a disease to your children can be manifest psychologically, and it is important that you do not deal with it alone.
Consider the following so you can stay level-headed in the face of surprising results:
- Finding a genetic variant associated with cancer DOES NOT represent a complete risk
It is important to remember that disease risk assessment involves many factors, such as individual and family history, diet, environment, medication/drug use, age, and gender. Do not write off your disease risk if you do not have a genetic variant and forego preventative care measures, such as a preventative mammogram screening, just because your consumer genetic test does not indicate you are at risk for that disease. Likewise, if you do have variants that show a risk for cancer, try not to be an alarmist, and instead, contact a physician or genetic counselor who can help you with the next steps.
Remember, there are over 1,000 mutations to the BRCA1 and BRCA2 genes (genes associated with Hereditary Breast and Ovarian Cancer Syndrome), for example. 23andMe, for example, only tests for three of these mutations. 
- Genetic testing is not part of recommended clinical practice yet.
To continue using the BRCA1 and BRCA2 genes example, a person with a negative consumer genetic test (which is only testing 3 mutations out of the 1,000 known mutations to cause Hereditary Breast and Ovarian Cancer Syndrome) can test negative for the genes but still be at risk for other harmful mutations that can cause cancer. For this reason, genetic testing is still not a part of recommended clinical practice without an interpretation of the results by an experienced physician. In some cases, even in light of a positive BRCA result, the course of treatment is dependent upon the individual’s complete risk assessment.
- Only a very small portion of your genes are analyzed.
The FDA and CDC would like you to understand that genetic tests are only looking at a very small amount of your genes. Your body contains more than 20,000 genes, and regardless of the amounts of SNPs that are tested, a large portion of your genes are not being tested at all. Some harmful genes may not be tested for altogether. The FDA and CDC agree that genetic testing is most appropriate when it is performed as part of a medical exam which accounts for medical history and family medical history. 
- Be skeptical about information regarding sensitivity to substances, medications, or treatments.
The FDA and CDC currently do not agree with any claims a genetic test makes for determining if you can be sensitive to a substance, medication, or treatment. 
- Be skeptical about information about environmental exposure risk, such as cigarette smoke, or toxins.
The FDA and CDC do not know of any studies which support a genetic predisposition or genetic variance that predicts how well you can tolerate environmental exposure risks. Do not expose yourself to environmental exposure risks like cigarette smoke or certain toxins because of the information received in a DTC genetic test. Again, these tests do not test the entire genetic makeup of an individual and may provide false reassurance which causes an individual to expose themselves to risks which are known to impact the entire population. 
- Don’t start vitamin or nutrition plans without first consulting a doctor.
The information and suggestions associated with DTC genetic testing results regarding vitamin, mineral, or nutrition plans are not meant to be taken in the place of medical advice. Supplementation without baseline medical evaluation and blood tests can be harmful. If there is a genetic variance associated with Vitamin D, for example, it is imperative that you see a physician who can perform a blood test to find out whether or not you need supplementation. It is possible to have a genetic variant for a vitamin or mineral but be coping well on your own and not require any supplementation. 
- Consumer genetic testing companies are subject to FDA and FTC laws.
For your protection, genetic testing companies are under the jurisdiction of complying with both FDA and FTC laws. Companies which make exaggerated claims and advertise complete knowledge of the human genome may be out to make a quick dollar at your expense. 
Resources You can Use
To find a Genetic Counselor near you, please visit:
To learn more about the FDA and FTC views on Direct to Consumer Genetic Testing, please visit: https://www.consumer.ftc.gov/articles/0166-direct-consumer-genetic-tests
These are a few resources and scientific studies which can help you understand the psychological effects that you may experience:
It’s safe to say that DNA testing has changed our lives forever. With the boom of DNA tests available for the consumer to take in the privacy of their homes, more and more information is being learned about humanity’s DNA. We’re learning about the connections between ancestors and diseases at a never-before-seen rate, accelerated by our curiosity to learn more about our origins and a desire to biohack our individual genes.
As we learn about our individual genes and what makes us different, we have a chance to learn about what makes us connected as humans. In this way, the network of the DNA inside our cells has expanded into a network outside of us, as we all work together to understand and appreciate the very essence of who we are.
- “James Watson, Francis Crick, Maurice Wilkins, and Rosalind Franklin.” Science History Institute, https://www.sciencehistory.org/historical-profile/james-watson-francis-crick-maurice-wilkins-and-rosalind-franklin.
- Durmaz, Asude Alpman et al. “Evolution of genetic techniques: past, present, and beyond.” BioMed research internationalvol. 2015 (2015): 461524. doi:10.1155/2015/461524
- “How Much of Human DNA Is Doing Something?” Genetic Literacy Project, https://geneticliteracyproject.org/2014/08/05/how-much-of-human-dna-is-doing-something/.
- “Genealogical DNA Test.” Wikipedia, https://en.wikipedia.org/wiki/Genealogical_DNA_test.
- “Glossary of Terms.” https://www2.palomar.edu/anthro/mendel/glossary.htm.
- “Nucleotides and Bases.” Genetics Generation, https://knowgenetics.org/nucleotides-and-bases/.
- “What Are Single Nucleotide Polymorphisms (SNPs)?” Genetics Home Reference. NIH , https://ghr.nlm.nih.gov/primer/genomicresearch/snp.
- “Purchasing Genetic Testing- Buyers Beware!” Washington State Department of Health, https://www.doh.wa.gov/YouandYourFamily/InfantsandChildren/HealthandSafety/GeneticServices/PurchasingGeneticTestingBuyersBeware.
- “Clinical Laboratory Improvement Amendments (CLIA).” Centers for Medicare & Medicaid Services, https://www.cms.gov/Regulations-and-Guidance/Legislation/CLIA/index.html?redirect=/clia/.
- “Terms of Service.” https://www.23andme.com/about/tos/.
- “Activating an AncestryDNA® Kit for Your Child.” https://support.ancestry.com/s/article/Activating-an-AncestryDNA-Test-for-Your-Child.
- “May I Test the DNA of a Child? Is There a Minimum Testing Age?” https://www.familytreedna.com/learn/testing-process/may-test-dna-child-minimum-testing-age/.
- “SelfDecode Terms of Service.” https://www.selfdecode.com/page/terms-of-service/.
- “Transparency and Direct-to-Consumer Genetic Testing Companies.” Harvard Law Petrie Flom, http://blog.petrieflom.law.harvard.edu/2016/11/22/transparency-and-direct-to-consumer-genetic-testing-companies/.
- “Genetic Information Privacy.” https://www.eff.org/issues/genetic-information-privacy.
- “What Is Genetic Discrimination?” Genetics Home Reference, https://ghr.nlm.nih.gov/primer/testing/discrimination.
- Couzin-Frankel, Jennifer. “Medical DNA Sequencing Leads to Lawsuits and Legal Questions.” AAAS Science, 26 Apr. 2019, https://www.sciencemag.org/news/2019/04/medical-dna-sequencing-leads-lawsuits-and-legal-questions.
- Moyer, Anne. “4 Concerns About At-Home Genetic Testing for Cancer Risk.” Psychology Today, 22 Aug. 2018, https://www.psychologytoday.com/us/blog/beyond-treatment/201808/4-concerns-about-home-genetic-testing-cancer-risk.
- “Direct-to-Consumer Genetic Tests.” Federal Trade Commission, https://www.consumer.ftc.gov/articles/0166-direct-consumer-genetic-tests.
- “How does 23andMe Genotype my DNA?” https://customercare.23andme.com/hc/en-us/articles/202904610-How-does-23andMe-genotype-my-DNA-