Proactive Medical Genetic Testing with 23 and Me, Invitae and X Code for Life: Part 1 Deciding to Test.

What is Genetic Testing?

Genetic testing analyzes your genes, which are the instructions in your DNA. Your genes help determine your physical traits. It looks for variations in your genes that can potentially lead to disease.

What is Proactive Medical Genetic Testing?

  • “Proactive genetic testing offers healthy adults without a strong personal or family history of disease an opportunity to learn about how their genes could potentially impact their health.
  • From Invitae Website

Why I Tested

In June of 2014 I was diagnosed with Colon Cancer. When diagnosed I did research an alternative treatment to traditional treatment.

Part of the diagnosis and treatment process was to do a genetic test which they sent to a lab in Turkey (not sure why they didn’t use a US lab) that helped them determine what would work for you. At that time the cost was $5,000 for this. For a variety of reasons I went the more traditional route.

By June of 2015 I had completed my treatment and was about to begin my search for my biological family.

In that endeavor I tested with a number of testing companies including 23 & Me. At that time I was focused on finding my bio people not really medical genetic testing.

The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease.

Now in fall of 2018 I had discussions with my oncologist and we decided that since my bio mom had passed due to Pancreatic Cancer, I had had Colon Cancer and that I was adopted that I should consider doing genetic testing for cancer.

Which I did. The company that was use is called Invitae. It provided according to my Genetic Counselor all the same tests with the same level of accuracy as other labs but at a lower cost.

We did the Cancer screening which of course makes sense. This screening analyzes 61 different known genes related to cancer. They do provide Cardio (77 genes) and Genetic Health (147 genes) screenings as well. In 2019 they will be offering patient initiated testing.

The 61 genes that they tested for were hereditary breast, ovarian, uterine, prostate, colorectal, gastric, melanoma and pancreatic cancers.

If there is a variant in one of these genes you have an increased risk of developing that cancer.

Variant Definition:” An alteration in the most common DNA nucleotide sequence. The term variant can be used to describe an alteration that may be benign, pathogenic, or of unknown significance. The term variant is increasingly being used in place of the term mutation.”  NCI Dictionary of Genetic Terms

Now having a variant does not mean you will develop the cancer just like not having the variant doesn’t mean you won’t.

For example I do not have a variant for colorectal cancer however I had it. So if you test for this and you don’t have the variant this doesn’t mean you can skip your colonoscopy!

Just did This Today

February 20, 2019

Xcode Life

As I was researching this blog have seen ads for this company X Code for Life. I did some research and decided to try this one to see what I got.

“Xcode Life doesn’t feature any proprietary DNA testing options. In order to obtain one of its reports, you’ll have to upload your raw genetic data generated by another provider. The company currently supports raw DNA data files produced by 23andMe (v2, v3, v4, v5), African Ancestry, Atlas Biomed, Dante Labs, DNA Tribes, Family Tree DNA, Gencove, Genes for Good, Gene by Gene, Geno 2.0, Genographic Project, Invitae, Living DNA, MyHeritage, Vitagene, WeGene, and Whole Genome Sequencing.

After submitting your raw DNA data, all you have to do is wait for your personal report to be generated. Xcode Life promises same day delivery. “ Review by Top 10 DNA Tests

Why Should You Consider Testing?

You have a medical/clinical history that may indicate hereditary cancer syndrome but have limited information database ie: small family size or are adopted.

You actually know you have a family history of these types of cancer and these histories might indicate/fit into more than one hereditary cancer.

Early detection of inherited variants in your genes associated with an increased risk for cancer or other diseases can provide you with preventative or early care options.

Now a days (given the commercial nature of genetic testing) you just may be curious and want to know.

Can the results of direct-to-consumer genetic testing affect my ability to get insurance?

Genetics Home Reference, Your Guide to Understanding Genetic Conditions
Information below from NIH US National Library of Medicine

Passed in 2008, a federal law called the Genetic Information Nondiscrimination Act (GINA) made it illegal for health insurance providers in the United States to use genetic information in decisions about a person’s health insurance eligibility or coverage. This means that health insurance companies cannot use the results of a direct-to-consumer genetic test (or any other genetic test) to deny coverage or require you to pay higher premiums. However, GINA does not apply when an employer has fewer than 15 employees, and it does not cover people in the U.S. military or those receiving health benefits through the Veterans Health Administration or Indian Health Service.

GINA does not apply to other forms of insurance, such as disability insurance, long-term care insurance, or life insurance. Companies that offer these policies have the right to request medical information, including the results of any genetic testing, when making decisions about coverage and rates. Some of these companies request information about genetic testing as part of their application process, but others do not. It is unclear whether genetic information, including the results of direct-to-consumer genetic testing, will become a standard part of the risk assessment that insurance companies undertake when making coverage decisions.

You should weigh the possible benefits and risks of direct-to-consumer genetic testing, including potential impacts on insurance eligibility and coverage, before you start the testing process.

In the next several blogs will explore my results and experiences.

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