Genomic Test Options: a 2024 Review
- drbeckyandrews
- Sep 8, 2024
- 19 min read
Updated: Oct 2
Before I start, I want to point to a few related posts that can provide helpful background information. Or you can Jump Straight to the review.
A Brief History of Genomic Testing
It was April 2003, my final quarter of medical school. I remember my immunology professor bursting into our classroom and breathlessly announcing that they had just completed mapping the human genome. It was a goosebump moment for all of us. Everyone in that room knew medicine had just entered a new era (and our chosen profession had just gotten a lot more complicated).
At that time, genetic testing was done one gene at a time, reserved for a small number of inherited diseases, and was generally left to professional geneticists. Note that testing for serious genetic diseases should still be done by medical genetic specialists who have the expertise to interpret this information and provide genetic counseling.
About 5 years later we saw the first MTHFR and methylation gene tests come out. Around that time, in 2006, the SNPedia wiki was started to create a hub for all of the SNP and genome information that was coming out. Then in the early 2010's, Ancestry and 23andMe came out. At long last, we could find out where our ancesters hailed from, if we had the gene for uni-brow, and what percent Neanderthal we might be. In 2013 ClinVar launched, which was one of the first large scale public databases linking genetic variations to health issues. A few super ambitious individuals built the first "interpretation" algorithms that used the raw data from 23andMe, compared it to the information in SNPedia, and generated SNP reports that were more focused on health issues. For many years, this was the best option for getting a health focused genomic report.
But, time marches on and so does science and technology.
We now have newer, more accurate mapping techniques - yes, techniques plural. We have astonishing amounts of data about millions of gene variations. We have AI to assist us in synthesizing this ocean of information. And a every few months, we have another new company offering "the most extensive genomic test on the market".
The Problem
The market for genomic testing has exploded since the early 2010's. In addition to all the fun ancestry and "trait" genomic products (like 23andMe), new genomic "health assessment" products are popping up all the time. All these genomic mapping services look the same on the surface, but what you actually get for the money is REALLY different. They are NOT interchangeable. It can be an overwhelming choice, and it can be really hard to know which one is right for you.
Translating genomic reports into plain Engish, and putting them into perspect is a service I offer. On more than one occasion I have had clients show up with an expensive report they bought online. When we looked at the report, there was no ACTUAL gene information, or the genes they wanted to know about were not included in the test. This was a frustrating waste of time and energy for everyone.
I decided it was time to do a review to help clients pick the product that best serves their needs. There are a handful of things you need to consider when you are shopping for genomic testing.
Methodoloy
There are now several different ways to test or "map" your genes. The older method uses "micro-array" technology and looks for specific gene variants by pre-programming a "chip" for them. This is necessarily limited to how many gene variant markers will fit on the chip. Individual genes are often identified by PCR technology, and there are several other methodologies.
Newer technologies (often referred to as NextGen or Illumina), use a totally different approach that allows them to sequence the whole genome very rapidly, without the limitation of "chips".
It is worth noting that (as of mid 2024) most companies are still using the older microarray tech.
Accuracy
The microarray chips were an awesome leap forward, and for their time were pretty accurate. They can make mistakes (they might say you have a slow MTHFr when you don't actually). We now know that this technology can be wrong 10-30% of the time (that doesn't mean 30% of the SNPS reported are wrong, but it means there is a chance a few of them on each report are). This was one of the reasons that services like Ancestry and 23andMe were never approved to provide health risk reports. Any reports done with this older technology should be taken as "likely" correct, but no major health decisions should be made based on them. Any genes with bigger health implications that come up on these tests should be re-checked with a more reliable method (a great example is ApoE).
The NextGen sequencing is considerably more accurate, and is considered accurate enough to extrapolate health information. However, it is not in common use yet.
Scope of the Map generated
The early products (Ancestery, 23andMe) claimed to map close to "a million genes". There are only about 20,000 genes in the human genome, so what do they mean by that claim? Each of those genes has between 75-2 million base pairs, and every base pair has the potential to have a variantion. That means there are billions of possible gene VARIANTS that can happen. The microchip arrays can look for close to a million possible specific variants. While those early maps were VAST compared to anything that had come out before, they actually only map about 0.02% of the whole genome.
NextGen sequencing actually maps the entire genome.
Why is this important when the reports can't convey all that information?
Nearly everything is related to more than one gene. Something like "caffiene tolerance" can be estimated by looking at the gene for the one enzyme in the liver that processes caffiene. But there are a lot of other factors that affect how you respond to caffiene (like how sensitive your sympathetic nervous system is and now long it takes to calm down once triggered). These other factors also have multiple gene influences. The more genes are mapped, the more likely these predictions will be correct. This becomes more important when looking at health related issues, especially risk factors for serious future disease (like cognitive decline). Genetic risks INTERACT, so the bigger the map, the better you can estimate actual risk (and the better your prevention plans can be).
Types of Reports
Ancestry reports look at specific genes that have been correlated to specific hereditary groups. The more genes they check the more accuarate this is. Some of the NexGen ones can even look at mitochondrial DNA. An ancestry report is fun and entertaining, but does not contain health information. (though many of the companies make their raw data avaialble for interpretation by services that do focus on health information). Many of these will not show what genes were tested.
Trait reports track traits like hair color, eye color, uni-brow, freckles, how easy weight control is, how many fast twitch muscles you have. Most traits have more than one gene associated with them, so the bigger genetic maps, will be more accurate for these. Some trait reports go into "health related themes" like exercise tolerance, lactose tolerance, caffiene tolerance. These usuallly don't show what genes were tested on the report.
Health Enhancement reports will look at health related "traits" and make generic health recommendations based on these. I am skeptical about these, especially the ones that recommend specific supplements or diet. These may or may not show what genes were tested on the report.
Fitness reports may actually have some helpful information as they look at traits related to muscle types, and metabolism. These may or may not show what genes were tested on the report.
Functional Metabolic reports look at gene SNPs related to biochemical pathways in your body. There are a nearly infinite number of pathways, but popular products look at detox, methylation, neurotransmitters, histamine, hormone production and breakdown, immunoglobulin production, mitochondrial function, autophagy, and more. These will often show what genes were tested and what variants you have.
Health Risk reports look at genes that are associated with higher or lower risk of developing specific diseases. These will often show what genes were tested and what variants you have.
Transparency
I have a lot more trust in companies that are really transparent. To me transparency means the company is well organized, detail oriented, and cares more about customers getting what they need, than making another sale. For Genomic testing, I want to be able to quickly find: testing methodology, a sample report, and the cost. If it is really hard to find those pieces of information, then I recommend you move on.
Privacy and Funding
How secure is your data, and who is funding the project? Most of these companies take steps to secure your data. For Direct to Consumer services you are under no obligation to use your real name, and they don't tend to collect very much personal information. Some of these companies are diagnostic services and their money comes from their customers (these will be more expensive). Some companies have research funding or are mining data for the pharmaceutical companies. Where the funding comes from has a lot to do with what genes will be on the report and what they are allowed to do with your data. In general most of the data is "de-identified", but it is always worth asking how the company handles your data. If there is no mention of their privacy practices it is likely the company may sell some of their data.
What are your goals?
If you are looking for Ancestry information, and fun "trait" things (like eye color or freckles) then the DTC (direct to consumer) tests are great.
If you want to get your genome tested because you have specific health concerns, I really recommend that you work with a practitioner that does this work. Find out what tests they are familiar with and let them help you decide. With 20,000 genes and billions of variants, no test company can possibly cover everything (nor can any practioner possibly know about all of them). Since every test covers different genes, and presents them in a different way, it is important that the practitioner you are going to work with is familiar with the report you are going to use, AND that the report you choose actually covers the genes you are curious about.
About the Review
Inclusion in this review is NOT an endorsement for the product, nor a recommendation for using if you have medical questions. Most of the products I reviewed turned out to NOT be designed for clinical use. If you want a list of the tests I work with in my practice please see my Genomic Assessment Service page.
I reviewed a LOT of products for this. I tried to cover every company I was familiar with, plus all the companies that popped up on various searches. Everytime I thought I was done I would find another rabbit hole. I am certain that there are more products out there that I did not find, and I'm certain that 6 months from now there will be new ones that have popped up. My hope is that this will give you enough information to evaluate products yourself with some degree of confidence, and decide if you want to work with a practitioner.
Quick notes before you start clicking through the reviews:
In the reviews below I used the terms gene / allele / SNP / variant interchangeably. I want to acknowledge that is a little sloppy, because they are not exactly the same thing. For the purpose of this review, they are close enough.
Each Company listed below is a live link - the chevron symbol to the left of it should open and close the details about that test.
I have no financial ties to any of these companies (not even the ones I use in my practice). This review was done purely as a "public service" and is not monetized.
Cost Reference for the reviews below:
$ = less than $150
$$ = cost between $150-$399
$$$ = cost between $400-$699
$$$$ = $700 and above
Genomic Testing Options in 2024
Practitioner Moderated Genomic Testing
These must be ordered by a physician and include clinically useful reports. The best ones evaulate a wide variety of genes related to specific conditions or risk factors, report what the genes are, what variant the client has, and how the different genes interact to increase or decrease risk of specific health issues.
Cost: $$$$ varies by bundle
Technology Used: NexGen sequencing, most accuare and complete available
Pros: This is the current gold standard in medically relevant genomic testing and interpretation. 40+ comprehensive panels related to specific health issues. Panels each report variants for all genes known to be relevant to that issue. Links to research supporting the data, discussion of how combinations of variants impact risk, and links to possible clinical interventions.
Cons: Price can be obstacle for some. Only available through practitioners approved to use the product (this could also be seen as a benefit). Their online portal is a bit clunky.
Comments: I do not know of any other platform that provides the depth, clinical relevance, and richness of inforamtion that IntellxxDNA does. Sample report available to practitioners by request.
Cost: $$
Technology Used: could not find on website. It is an older test, so may be using older tech.
Pros: The only test I am aware of that looks at genetic ability to respond to and metabolize psychiatric drugs. Extremely helpful in predicting poor response to these commonly used medications. Now includes MTHFR
Cons: Test is limited to a single health topic, and only looks at it from one metabolic perspective. Can only be ordred by licensed physician.
Comments: No other health realated information explored. Sample report available on site.
Cost: $$
Technology Used: microarray chip
Pros: Reports include a lot of clinically relevant genes, ranked by relevance, and in a different part of the report are grouped by function. They offer a single product that is fairly comprehensive.
Cons: Reporting style for listed genes makes it a little hard to tell which of your genes are SNPs vs. wild. Recommendations provided on reports are fairly generic and do not consider the impact of combinations of snps nor the clincal picture. I find the recommendations for specific doses of specific supplements concerning - I think specific recommendations shoudl be left up to the practitioner and not a computer algorithm. Report layout is "pretty and flashy" but also very cumbersome and not the easiest to read.
Comments: recommended for the Apollo Re-Code program if IntellxxDNA is financially out of reach. Founder and advisory board are all doctors in fields related to the product. Sample reports easy to find and download
Cost: $$-$$$ depending on how many panels you order
Technology Used: could not find on website, microarray chip likely
Pros: Reports are formatted in a clinically accessible way, list genes that were assessed, ranked by relevance. Easy to tell which are SNPs and which are wild type. Wide variety of panels or bundles available.
Cons: Panels (gene lists per category) are not as complete as they could be, which makes it difficult to see enough of the big picture. Recommendations for diet, exercise, supplements are generic.
Comments: Clinical / scientific training of the company members is not clear (no bios listed on the site). They want practitioners to complete their (quite expensive) training (to be listed on their site). They are also offering what looks like "private labeled" functional tests from other companies. Sample reports easy to find and download. NOTE there is a different company with a very similar name (LifeDNA). LifeDNA is not recommended for clinical use.
Cost: $$$
Technology Used: microarray chip, custom made for their panels
Pros: extensive variant reporting with strong focus on SNPs that affection function. Lots of research based education material listed for each SNP, and health impact ratings given.
Cons: Only available through practitioners trained to use the product, difficult for practitioners to access (lots of proprietary gatekeeping). Variants are not grouped by function, so reports are difficult to interpret. Raw data is not usable by any other service.
Comments: Focus is on variants that affect overall cellular function. Does not provide ancestry, trait or disease information. Reporting recommends not just specific herbs or nutrients but specific products of a specific brand (that has financial ties to the same people that own the lab). No sample reports available.
Cost: unclear
Technology Used: not listed
Pros: not enough on website to say
Cons: not enough information on website
Comments: appears to be a practioner only product focused on nutrition advice based on genes. No sample reports available
Cost: unknown
Technology Used: unknown
Pros: Probably very accurate
Cons: no current access, not applicatble to general health screening
Comments: This company appears to have merged with Labcorp (one of the 2 big reference laboratories in the U.S.). Focus is on rare diseases and every single gene set would be ordered separately. DTC kits are listed on the site, but are "unavailable". No sample reports available
DTC Genome Mapping Services
DTC = Direct To Consumer
These companies map gene variants (usually SNPs). Some map a few, some map a LOT. Most, if not all of these are using the older technologies, so have a somewhat higher risk for errors. These are not approved for health evaluation, or diagnostics, and reports focus on ancestry, and "traits" (blue eyes, unibrow, freckles). Most do not provide any health recommendations (nor should they). Many generate raw data that can be run through different "interpretation" services.
Cost: $$
Technology Used: microarray genetic testing/ genotyping
Pros: easy access, secure, trusted company. Lots of fun ancestry and trait information. Raw data is downloadable, usually with no extra cost.
Cons: Uses older gene mapping technology, some risk for errors. Maps around 700,000 variants (0.02% of the total genome). List of genes mapped changes every few years based on research funding. Reports are focused on ancestry and traits, NOT usable in the clinical setting
Comments: Changed list of genes mapped in May 2023, no longer offers enough health related genes to work with most interpretation services. Raw data from older maps can still be used with services like mthfrsupport.com
Cost: $$ Technology Used: microarray genetic testing/ genotyping
Pros: easy access, secure, trusted company. Lots of fun ancestry and trait informaiton. The list of genes mapped is fairly stable. Raw data is downloadable, usually with no extra cost.
Cons: Uses older gene mapping technology, some risk for errors. Maps around 700,000 variants (0.02% of the total genome).
Comments: There is a membership model built into this. Focus is on finding relatives. Reports are "ancestry" with the option of "trait". Must be used with a 3rd party interpretation service to get any clinically relavent data. Currently best choice for use with mthfrsupport.com interpretation (see below)
Cost: $-$$
Technology Used: not listed, but probably the same as Ancestry
Pros: Fun ancestry and trait information at affordable price. Generates raw data that can be used by a few interpretation services below
Cons: reporting focused on entertainment, ancestry, and traits. Not designed for clincal use
Comments: So focused on ancestry, it seems unlikely that the raw data will have enough health related markers to be of use (though I have not seen a report generated off of this)
Cost: $
Technology Used: not listed, but probably the same as Ancestry
Pros: Fun ancestry information at affordable price. Generates raw data that can be used by a few interpretation services below
Cons: reporting focused on ancestry and nothing else. Not designed for clincal use.
Appears to be membership based?
Comments: So focused on ancestry, it seems unlikely that the raw data will have enough health related markers to be of use (though I have not seen a report generated off of this). Some report issues with upselling, others report good customer service.
Cost: $$
Technology Used: not listed, but probably the same as Ancestry
Pros: Fun ancestry information at affordable price. Generates raw data that can be used by a few interpretation services below
Cons: reporting focused on ancestry and nothing else. Not designed for clincal use.
Comments: So focused on ancestry, it seems unlikely that the raw data will have enough health related markers to be of use (though I have not seen a report generated off of this).
Cost: $$$
Technology Used: not on website
Pros: Interactive AI driven chatbot to help customize exercise or diet plan? Pro if you are into that sort of thing
Cons: Interactive AI driven chatbot to help customize exercise or diet plan? Con if you hate that sort of thing. No transparancy about what you are getting.
Comments: This seems like it is mostly about AI chatbot. It is not clear if reports are generated, nor what might be in them. It is not clear how much of the genome is mapped or how it might be mapped.
DTC Genomic Interpretation services
These services do not provide test kits or map your genome themselves, instead they use raw data from one of the services above, run that through a computer algorithm and produce a report. Some reports just list the SNPs you have (the better ones list them by system or category). Others comment on the relevance of certain genes and make generic recommendations based on what genes you have. These reports are always limited to whatever genes their development team decided were relevant for the advice they wanted to provide (what they thought the public would buy). Interpretation and recommendations made by these automated platforms are always generic.
Cost: free, with requested $25 donation.
Pros: Very affordable, Includes the 2 main MTHFR variants
Cons: Accuracy is dependent on source of raw data. List of genes reported is VERY limited (less than 1 page). Cannot put gene variants in context with so few provided.
Comments: GG gets props for being one of the very first DTC Interpretation platforms out there, but they have not expanded their offerings in 10+ years. Not recommended for most due to limitation in scope of genes reported.
Cost: $
Pros: Very affordable, exceptional value for money. Large number of genes reported (50+ pages). Reports grouped by function / health related category. Includes genres related to: detox, methylation (including MTHFR), neurotransmitters, gluten sensitivity, cognitive decline, clotting, antibodies, eye health and some nutrient metabolism.
Cons: Accuracy depends on source of raw data. Which genes are reported can be impacted by source of raw data. Requires knowledgable practioner for interpretation and recommendations (this could be considered a benefit). Some genes may have less clinical relevance than others.
Comments: Props for being the 2nd interpretation service out there, and the first with large amounts of relevant genes. Reporting has also evolved and expanded over time. This is the report I have used with my clients for more than a decade.
Cost: $12
Pros: Extremely affordable. Pulls informaiton from a reputable pool of current research.
Cons: Accuracy depends on source of raw data, primarily works with the older DTC mapping services that are less complete and accurate. Reporting is very clunky, with outdated interface and process. Information not grouped by clinical relevance or pathway. Not easy to use clinically
Comments: Not recommended for clinical use
Cost: $
Pros: Covers the complete methylation pathway (very few tests do this). Shows the SNPs and their estimated effects within illustrations of the biochemical pathways (very cool feature for the doctor looking at it). SUPER affordable
Cons: Limited panel. While methylation influcences a lot of things, it is not everything. This test does not explore any other health risk genes (cardiovascular, cognitive decline, etc). Sample report only shows a small portion of the test results.
Comments: Focused on the methylation pathway and a few pathways closely related to it (histamine, neurotransmitters, and glutathione). Created by Ben Lynch ND who was one of the pioneers that really got MTHFR and gene SNPs on everyone's map.
DTC Map + Interpretation Services
These companies have their own mapping service - you send a sample and they read your genome. They ALSO have interpretation algorithms that are more or less useful. Some allow you to use their test kits OR raw data from 23andMe or Ancestry type services.
Cost: $$
Technology Used: unable to find on website, based on the reporting microarray chip seems likely
Pros: concise reporting that inclues general concepts but also includes list of all genes tested, the wild type, which variant you have and blurb about what the gene is associated with. Genes tested are relevant for a lot of health and fitness issues. Reports should be easy to use for practitioners trained in SNP interpretation. Nice, focused test.
Cons: Genes on Function report are listed alphabetically, not by function. Only about 100 genes tested.
Comments: Developed by a physician group, so SNPs are very clinically relevant. Reports are only off of their own test kit and map (they do not process raw data from other services). Works and Function test same SNPs, Works has SNPs organized into different panels, Function report just lists SNPs alphabetically. Sample Reports are easy to find and download.
Cost: $$$ - $$$$ depending on how many panels you want
Technology Used: Next-Gen
Pros: If using their mapping service, get complete genome mapped, with billions of variants, mitochondrial DNA, SNPs, deletions, structural variants, and more. Very, very thorough map using the most accurate, up-to-date technology. Panel for rare diseases, and Ehlers Danlos (very hard to find DTC).
Cons: So many "panel" options that it is really confusing what you might want/ need. All the options for what you can order are not even in the same area of the website. Some reports contain only a single SNP, others have many. May have memership model, unclear how that affects what you can/ cannot get.
Comments: They have their own, whole genome mapping service, but will also run their interpretation algorithm on raw data from 23andMe, Ancestry etc (which affects accuracy and volume of data available). Their algorithms are focused on rare-disease screening. Great for "citizen-scientists". Sample reports are very hard to find. If you wanted to try to use these for clinical support, would want to work with clinician to see if it is possible to generate the information you need.
Cost: $$
Technology Used: not listed on website, see comments below
Pros: flexible teirs?
Cons: sample reports not provided, but they claim they can tell what you should eat and what supplements you should take from your genes. Those are both dynamic systems with a lot of input, so basing those recommendations on something static does not seem wise. Appears to provide generic recommendations but not a list of SNPs / genes evaluated.
Comments: This company does interpretation of raw data from Ancestry, 23andMe and others, AND they also offer a tier where you use their test kit. It is likely that they are using the same sequencing technology and generating similar raw data to Ancestry and 23andMe, which means older technology. NOTE: there is a different company with a very similar name (DNA Life). DNA Life reports can be used clinically whereas this company LifeDNA is not useful for anything beyond generic advice.
Cost: $$
Technology Used: not listed on website.
Pros: Affordable quick look at basic genes related to MTHFR, diet, and nutrients.
Cons: Reporting gives no context on how SNPs might affect one another, nor is there context for recommendations. Genes can't predict functional nutrient levels in real time. Interpretation services do not appear to be performed by doctor. Not the best choice for deep health overview.
Comments: Focus is genes related to nutrients, diet and exercise. Does not really focus on genes for risk of common illness (diabetes, chronic illness, or cognitive decline). Includes genes for parts of the methylation cycle (MTHFR, but not all others), some neurotransmitters. some for gluten sensitivity. They appear to have their own "interpretation" service, offered by health coaches.
Cost: $$
Technology Used: Illumina (NextGen) sequencing
Pros: reporting does give the list of SNPs assessed (though not which ones have SNPs). Data is secured to European standards (much higher than U.S.), Sample reports for every panel are available online.
Cons: the snp list does not indicate what the wild type is, so you have to guess at which ones are problematic. Has an Alzheimer panels that does not include the primary risk gene (ApoE), recommendations and observations are generic (though more detailed than most other DTC companies)
Comments: European company, product is focused on consumer level information. Not built for clinical use. They have their own kits and mapping service, but will also apply their interpretation algorithm to raw data from 23andMe, Ancestry, etc (which will affect the quality and quantity of data available). Panels for ancestry, athletics, nutrition, skincare, medication response, general health.
Cost: $$-$$$$
Technology Used: 30x Whole Genome Sequencing
Pros: Full DNA map
Cons: membership model, makes pricing and what you get for the price pretty confusing. Their algorithm uses AI "data expansion" to "fill in the blanks" for your raw data sets... so this is generating data that does not exist.
Comments: Have their own mapping service (probably pretty accurate). Also will run their algorithm on Ancestry / 23andMe raw data - see above for concerns on how they do this. Reports that there may be some accuracy or customer service issues. No sample reports available. Unclear what they actually report to you.
Ok, that's it. If you made it this far, well done, and thanks for reading. I hope you found this helpful.
If you are interested in my genomic "interpretation" services, click HERE.
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