Genetic Testing - The Different Types

Updated: Mar 8

This is a rapidly evolving space, so i will try and do my best to give a broad general overview before diving deep. First i will cover the basics, in terms of testing.


Test Kits

Usually two options exist, bucal swab of inside of the cheek or saliva based. Both work, and have relatively low do-over rates.


What kind of DNA Analysis are You Actually Having Done

There are basically a handful of types at this time:

  1. Far Left: Like 23andMe, Ancestry, Heritage where its a relatively inexpensive, and unverified process to gather a bunch of DNA and produce a raw DNA file that includes thousands of lines of data with mutation variants for each location provided. Usually the file has a line with 3 elements at least: a) an RS number (rs 3250239) that is references to a particular gene and a particular location on that gene; next is the allele from mom and dad (T G), also listed is usually the un-mutated allele (T). Usually what is marketed and sold by these companies are their 'Reports' which include some pretty basic things and some anomolies, but its not very much information. Raw data files are usually available upon request and can be downloaded, 23andMe's latest version includes about 750 genes, and 14,000 locations. Usually the test kits can be had for $69-$99 with coupon codes, and the lead time is pretty quick, 3-6 weeks. Others in this space are : Nutrition Genome, Life Code GX. Amy Yasko, has developed her own protocol, but its around a couple of dozen genes and 50ish locations, its super limited.

  2. Far Right: Whole Genome Sequencing, which is across ~20,000 genes, and hundreds of thousands of locations. Its very comprehensive. However, there doesn't appear to be software that's been developed yet on how best to use this amount of data. All of the software i have seen basically has you type in a gene, or rs # and it looks it up one by one, and gives you some background. Its incredibly laborious and doesn't allow you to see patterns across genes. There is a different test kit, and the analysis of the DNA sample usually runs around $500-$2,000. Some examples of these companies are:

  3. Down The Middle: This is where naturopathic solutions have emerged that enable a practitioner like me to be more effective. Staring at 1,000 genes (much less 20,000) across 50,000 to 250,000 locations is like looking at the Great Sand Dunes in Colorado - they look so beautiful, but what do you do ? Where do you start ? This is where some software packages have been developed that have been quite useful. The ones I like and use tend to organize about 25-1,000 genes into groups of genes that are related in some way, like, say "Methylation", or "Mitochondria", or "Glutathione", "Dopamine", "Serotonin", etc. The better software packages also reference clinical research about the specific gene and the specific location (rs # ) on the gene that has research that shows its effects the function of the gene. I use a software package that looks at about 1,000 genes across 45,000 locations. I use others too, but they are more narrowly focused (20-100 genes, 100- 1,000 locations), when i need to supplement with some specific things. Usually this software allows the practitioner to use the raw data from 23andme, etc. Strategene, Functional Genomic Research Institute, The DNA Company, Intellxx, etc all play in this space. I use about 25 bio chemical pathway maps with ~150-300 elements on them (genes, compounds, co factors, up regulating compounds) to help aide my understanding of the inter-relationship of a clients mutations. These companies usually offer some standard reports, and also access to the raw data. I use some of the standard reports, and have created some of my own custom reports as well.

  4. Medical Diagnostic DNA Panels - these are specific genetic testing companies with panels specific to a specific disease and that have received clearance from the FDA, that there is proof that the gene markers are associated with that specific disease. These are used to "confirm a diagnosis" for a particular disease. These are good, but narrow, like one panel for breast cancer, another for colon cancer, another for some rare lymphoma. They have their place, but its generally not with the chronically ill. Some examples of companies that play in this space are : Invitae.

  5. Website based apps that let people look up their raw DNA and get some answers on what their variants. MTHFR Support, Genetic Genie, etc play here. These sites generally are limited in the genes and locations they cover, and do not look across groups of genes for broader patterns, offer bio chemical pathway maps, etc. They are mostly free or low cost for DIY'ers.

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