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Genomic Test Options: a 2024 Review

Updated: Sep 24


blue and purple test tubes with pipette

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. 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. Shortly after that the SNPedia wiki was started to create a hub for all of the SNP and genome information that was coming out. 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.


Man facing lots of question marks

Methodoloy

There are now several different ways to test or "map" your genes. The older method uses "micro-array" technology and looks for specific genes by pre-programming a "chip" for them. This is necessarily limited to what genes 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) 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, so there are billions of possible gene VARIANTS that can happen. 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


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 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.


 

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



 

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.


 

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.



 


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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