LESSON 16: Medical Information from Consumer DNA Tests

As I write today ( Sep 2020) 4 of the 5 major Consumer DNA companies offer Medical relevant information from a Direct to Consumer (DTC) DNA kit. The last company FTDNA does offer a specialized Exome test called for Tovana ($949). The first was 23andMe and it was also the first to win FDA Approval for various reports. It offers the greatest number of Trait reports (can you roll your tongue), and carrier Status Reports (do you carry one or more copies of a SNP that confers a specific disease). As of the writing MyHeritage offers slightly more Genetic Risk reports than 23andme. In addition all but MyHeritage offer Wellness Reports. I have not compared the outputs at all 4 companies having only received those for 23andMe. All of these are generally an additional charge from the existing genetic genealogy offering. The medical information can be ordered at the time of the test or added later for a charge.

There are also many companies offering Full Genomes and attendant medical services.

THIRD PARTY TOOLS for Medically Relevant SNPS

This is a guest Lesson by Patricia Ann. I do not have much experience using these tools but I have offered to host this information that Patricia has prepared for others who may be interested. Thanks Patricia for your review.

LIVEWELLO



Livewello is an app that works with 23andMe’s raw data and costs $19.95 as a one-time fee. Once you’ve purchased the app, it is useable over and over. I use it on my personal computer and can download reports as a PDF. If you have an IPhone or IPad, you can also view your reports.

Livewello’s app runs your 23andMe raw data through their software and generates various kinds of reports. I like their reports because they highlight your personal minor alleles and let you know if you have a single risk mutation (heterozygous) or double risk mutations (homozygous). The reports are very easy to understand and the mutations stand out clearly. The non-risk alleles are color coded green, the single risk mutations are color coded yellow, and the double risk mutations are color coded red. Each Gene, rsID, and genotype is clickable, for more info, and gives links to places like: dbSNP ; 23andMe ; Google Scholar ; SNPedia ; and Ensembl 

livewello lets you generate 3 three types of reports: 

1. A Standard Variance Report which includes the following categories: 
Allergy, Clotting Factors, Gluten Intolerance, Iga, Ige, Igg, Methylation, Mitochondrial Function, Other Immune Factors, Sulfotransferace, and Thyroid. 

Personal note…the Standard Variance Report is very helpful, and lists several genes pertaining to health conditions that 23andMe doesn’t highlight. For instance, I have a gene mutation called MTHFR. 23andMe doesn’t have a health category for MTHFR. With livewello, I am able to zip over my raw data from 23andMe and run it through livewello’s software. And on the Standard Variance Report, under the category Methylation, several minor allele’s that pertain to my MTHFR mutation are listed and color coded. This lets me know whether I have a single risk (heterozygous) mutation, or double risk (homozygous) mutations for those genes. 

One thing to note… livewello doesn’t list every gene relating to a particular condition. For example, under the category Thyroid, they list a few genes, but not every possible gene that could affect your thyroid. Still, I find the report invaluable. 

2. A Custom Report using their Livewello SNP Sandbox tool. 
You can title the report as you wish, imput the rsID’s of your choice, and then livewello generates a report for those genes. This report also includes the green, yellow, and red highlights which indicate your risk levels. 

3. Reports that you generate from templates made by other livewello users. You can access the templates from the SNP Template Library.

SNPEDIA

Is a free resource where you can look up SNPS to find out more about their medical relevance.

PROMETHEASE

“Promethease is a literature retrieval system that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia.

Biomedical researchers, healthcare practitioners and customers of DNA testing services (such as 23andMe, Ancestry.com, FamilyTreeDNA, Genos, etc.) can use Promethease to retrieve information published about their DNA variations. Most reports cost $12 and are produced in under 10 minutes. Much larger data files (such as imputed full genomes) have increased runtime. Uploading additional data files into the same report costs an additional $4.

ADDITIONAL RESOURCES


Promethease: Genetic Health Information Alternative by Roberta Estes

Comparison of Comprehensive Medical Reports by Roberta Estes


Kelly Wheaton Copyright 2020. All Rights Reserved.

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