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Disclaimer- The information provided here is for educational purposes, I am not a medical professional nor a genetics professional. While I can describe some of the things I have learned and researched, each individual is different and what worked for me may not work for you.

Exploring your Genome

Introduction and a word of caution.
When first embarking on genetic research, the assumption was "If I could just identify these genes, they would tell me what was wrong". They did to a point. After many years of research and digging thru my genetic information I realized that genetic research is still in it's infancy and rapidly changing. It is far from being an exact science. The assumption that genes pre-determine what you might or might not have as far as illness or health is influenced by many things such as diet, nutritional status or a specific deficiency in vitamins or minerals. Also contributing to the picture are exposure to various toxins such as synthetic chemicals, mold exposures, heavy metals, excessive use of antibiotics and pesticides that are commonly encountered in our modern environment.

If you have made it thru childhood, into your 20's and 30's without many issues, you probably do not have any major detrimental mutations. That said, it can be the minor mutations that can cause issues with health in the later years and it is here that the waters get murky. There are a few mutations that cause inherited disorders later in life but these are not common.

Genetic studies, just like most studies are usually done studying the effect of that one gene, they don't consider the interactions with other genes. This leaves the study limited unless it has been looked at from many different angles. Also consider that if half the population has a risk factor for a certain disease, it is just that, a risk factor and does not mean you will get that disease. The more important ones usually have a very minor population associated with them. The fact that only 5% of a population has a mutation can mean it is not conducive to existance, but some are just a normal variations and there may be no studies to say one way or another. Usually the worst show up as less than 1% of the population.

Most major detrimental genetic mutations, often of devastating impact, will show up in the first few years of childhood. The minor mutations can have impact as you age because they function less efficiently. Most research right now is focused on the more detrimental forms found in childhood, there may not be a lot of information on the minor mutations. The science is just not there yet.

Genetics 101

While you might be tempted to look up a Geneticist, it is expensive and you may have to go to a larger city to find a good one. They may or may not have any background in Biochemistry. I have also heard from others that you may only be able to discuss one gene. If you found something truly detrimental this might be a worthwhile avenue. For myself, I would need a genius with both backgrounds to decipher my genes and a complicated biochemistry. I opted for the time consuming route of looking them up myself as it would cost me a fortune to hire one.

Honest Product Reviews- Best DNA Test for Ancestry. https://honestproductreviews.com/best-dna-test-for-ancestry/ This is a good overview of the pros and cons regarding different DNA testing services and which one you might want to use. They have a complete review of the major testing companies as well as reasons you might want to test. It is really a primer on what to expect from DNA testing and addresses many questions and concerns you might have.

Start Here

A good starting point would be this site: https://cpmc.coriell.org/genetic-education/overview This has a great tutorial on genetics and is from Coriell Institute for Medical Research. Take your time and learn the basics, there is a lot to learn. Note: When looking up a variant, keep in mind that A and G can be interchanged, so can C and T. It depends which way they are looking at it. The hard to interpret, is when there is a change from C to G, which I find occasionally. So sometimes a CC designation will be listed as GG or a TT will be listed as AA. C=G and A=T. It will make sense later. A basic introduction has also been provided by mthfrsupport.com and can be found here: http://mthfrsupport.com/wp-content/uploads/2014/06/SNPoverview.pdf

Tools and Resources

See Resources below for more genealogical and genetics information.

23andMe: https://www.23andme.com This company has a genetics test for $199.00 U.S. The health reports are limited but you can get your raw data, save it to your computer and there are a few other places where you can generate reports using that data. They have been cleared by the FDA to report carrier status of certain genetic disorders. If you are looking for pathogenic (bad) SNP's be aware that they only test about one tenth of these. Still a lot of information can be found. They do still provide geneaolgy information like your genetic cousins, how much Neaderthal you have, where your genes are from and the ability to compare your genes with your cousins to see where you match. For more information...

dbSNP: https://www.ncbi.nlm.nih.gov/snp This is a free government website where you can research each SNP (Single Nucleotide Polymorphism Database). It is a bit overwhelming so check out this introduction at http://www.ncbi.nlm.nih.gov/projects/SNP/docs/rs_attributes.html The pathogenic SNP's have colored alerts on them. You will need the RS number to enter into the search box. For more information...

OMIM: http://omim.org/ Online Mendelian Inheritance in Man, is a database of researched genetic mutations with short summary of the SNP's that have disease causing effects or produce some detrimental change. Put the Gene name in the search box, like MTHFR. They have made the interface more friendly recently. For more information...

SNPedia: http://www.snpedia.com/index.php/SNPedia An online wiki on numerous genes, here you can put either the Gene name or the RS number in the search box to research a SNP. They also provide a most useful report called Promethease which is a good alternative report since 23 and Me does not provide health reports at this time. I found it most useful. For more information...

Promethease Report : This report is part of the SNPedia web site. For $12.00 U.S., you can have a report that will show which are the more detrimental SNP's, they will be in a red box outline. The gray boxes are undecided or there may not be enough information to make a judgement call. Often this is because there is only one report. The green box outline are SNP's that are reported to be fine. This report is an interactive way of searching specific genes, health conditions or which genes are involved in certain diseases or you can sort to find just the bad genes. Promethease was purchased by MyHeritage in December 2019. For more information...

Enlis Genomics - Are you are ready for a more in depth analysis, want something more sophisticated? Enlis Genonics offers free software to research your raw data from 23andMe as well as other genomic files such as Whole Exome testing. It costs to process your raw data in a form that can be used by their software. They charge $39.95 US to process a file from 23andMe, Ancestry or FTDNA. For Whole Exome tests the cost is $79.95 US.
Whole Exome testing encompasses a more complete view of your genome as relates to mutations that are related to health disorders and costs about $1000.00 US. Whole exome files will end in .vcf and are much larger.
Enlis Genomics has a personal version of their software which will require processing the data for each individual. Their other version allows for processing multiple files without using their website and is geared towards professionals, it also addresses compound mutations which is not necessarily obvious with the personal version. See their FAQ as it addresses a lot of common questions.
Enlis Genomics went thru the free online 23andMe files posted by people and reverse engineered the internal numbers, the ones that start with an “i“instead of “rs”, based on chromosomal locations and pulled out a lot more information from the 23 and me file. They also removed what they consider “over calls” of certain snps which are found in 23andMe raw data. This is where the number of reported mutations for a certain disorder are way out of the norm in relation to the population data and are probably errors. Their website is: https://www.enlis.com/

Other Reports: These reports listed below will not diagnose anything but are faster at pointing out some commom genes that alter drug metabolism, affect gluten intolerance, methylation issues and detoxing ability. It can save a lot of time and get you started but will still take research.

Livewello.com https://livewello.com/23andme This site can generate a report on about 300 SNP's for $19.95 U.S., a one time fee. They also have tools for working with multiple health care providers. This is a quick way to find out if you are homozygous for the minor allele (red), heterozygous (yellow), or homozygous for the major allele (green) for a number of common SNP's. Not all of these are pathogenic, most are normal variants but they can impact your health. This report will not tell you which is the risk allele. Most of the time it is the red ones. Livewello works with 23 and Me raw data, Ancestry.com and others.

MTHFRSupport.com http://mthfrsupport.com/ Sterling Hill and her team have a report for $30.00 U.S. They support 23andMe and AncestryDNA. It will generate about a 50 page report which can be saved in PDF format or researched through your online account. It is similar to Livewello but with more SNP's. I am not sure how many SNP's there are because it looks like some are repeated under different catagories as many of these SNP's influence multiple pathways. They do report the risk allele though, which is really what it is all about. There are also graphic maps of the different metabolic pathways and which gene work on those paths, these are at the end of the report. This is a nice teaching tool. Sterling does not do private consults any longer, as of March 31st, 2015. Sterling started her journey after she had some blood clotting issues which landed her in the hospital and after the Doctor's suggested she see a Psychiatrist. Her report app works with 23 and Me raw data, which you will have to upload when you order a report.