Proactive Medical Testing Part II – XCode Life and Invatie

So you have weighed all the pros and cons of Medical Testing and have decided to test.

I am going to go through my three testing companies from the most recent to the least recent. There are at least 11 testing companies and the number is growing daily.

With the success of the major Direct to Customer genetic testing companies there has been an explosion of testing. Even Jenny Craig is integrating DNA Testing into their program.

Quote from their June 2018 press release.
“Customizing nutrition plans to an individual’s genetic makeup can offer members even greater personalization for weight loss and overall wellness.”

Ok it is becoming overwhelming. So I find XCode Life and purchased their reports. Time line was as follows:

  • Feb 20 Create Account at 2:59pm
  • Upload Data
  • Paid $99.00
  • E Mail successful uploaded 3:11pm
  • Feb 20 E-mail Report Ready 10:03pm
  • Feb 27 Email get $99.00 back for doing a 5 min video testimonial

They provided 10 reports: Allergy Response, Breast Cancer, Carrier Status, Prime Fitness, Supreme Health, Methylation Report, Good Nutrition, Unique Personality, Precision Medicine and Radiant Skin.

For example the Carrier Status Report – can tell you about a variant that could affect you and could also affect the health of your future family. This means you carry one variant for the condition.

One of the carrier genes it reported was as follows: CONGENITAL HEART DISEASE Gene markers analyzed: 4 Gene markers present in your genome data: 1 Potential pathogenic variants found in your genome data: chr8:g.11612698C>A Genes analyzed: GATA4

Both my half sister and I on my maternal side had Ventricular Septal Defect – ventricular septal defect (VSD), a hole in the heart, is a common heart defect that’s present at birth (congenital).  (Defination Mayo Clinic) It closed on both of us as babies.

Most of the information in this report had was that I wasn’t a carrier or the disease is so rare that it was not an issue for me. I have no children only cats.

The Breast Cancer Report just confirmed the other two reports that I received from 23 & Me and Invitae. It did give me a Pharmacological Report that assessed different drugs and their efficacy should I need to use them to treat Breast Cancer.

MTHFR (methylenetetrahydrofolate reductase) “An MTHFR status report is one of the many indicators for identifying the risk of developing cardiovascular disease, or the risk for neural tube defects and sensitivity to methotrexate. The information provided must be interpreted only by a qualified physician.” from XCode Life. Severe cases about 50 world wide.

The good news from the Health Reports were that I was not likely to gain weight on a high carb diet. Never met a carb I didn’t like.

The reports were easy to read and provided some interesting items. As I try to eat more healthy and keep fit I will refer to them to help design my plan.

I think worth the $99.00 I paid for it.

Each Report contained a disclaimer. Here is part of the disclaimer from the Precision Medical Report:

This report is to be interpreted only by a qualified and licensed medical practitioner Ancestry DNA tests do not cover all pharmacogenetic markers and are not considered to be clinically suitable. Licensed medical practitioners are trained and qualified to make therapeutic decisions based on patient information and medical history, including the pharmacogenetic report. The FDA has recommended pharmacogenetic testing (PGx) only for specific drugs and does not yet mandate it for routine use in guiding therapeutic decisions for all drugs. Genotyping results do not eliminate the necessity to account for non-genetic factors that can influence dose.

Panels and genes analyzed in my test from Invitae.

Invitae Common Hereditary Cancers Panel

image-5

Primary panel (46 genes)APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, CTNNA1, DICER1, EPCAM, GREM1, HOXB13, KIT, MEN1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PDGFRA, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL

I got my results through my Genetic Counselor at my Oncologist’s Office. Most of the tests indicated that there the tests were negative for cancers. Remember my report for this came from a non-Direct to Consumer company and was meant for my Genetic Counselor to explain to me. So it isn’t in plain English. 🙂

A variant of Uncertain Significance, c.862G>A(p.Val288Met) was identified in NF1.

The NF1 gene is associated with autosomal dominant neurofibromatosis type 1. People with this condition are born with one mutated copy of the NF1 gene in each cell. In about half of cases, the altered gene is inherited from an affected parent.

Neurofibromatosis-1 (NF1) which nerve tissue tumors (neurofibromas) form in the: Bottom layer of skin (subcutaneous tissue) and or on the brain (cranial nerves) and spinal cord (spinal root nerves).

What this means is that the clinical significance is uncertain at this time. That they don’t have enough evidence from other people with this gene variant to know if this means anything or not. So until there is more clinical study with more people showing up with this variant you just wait and see.

Another result was SDHA.Exon13.c.1708A>(p.Asn507Tyr).heterozygous. Uncertain Significance.

OK What does this mean? I looked it up and a lot of it was medical chemical stuff. (Am not a scientist.)

What I figured out is that SDHA mutations/variant could cause multisystem mitochondrial disease.

Mitochondrial Disease News

The term “Mitochondrial disease” refers to a broad range of disorders, each of which involves a mitochondrial dysfunction, with many more believed to have yet to be discovered. Because mitochondria perform so many different functions in different tissues, there are literally hundreds of different mitochondrial diseases that result from either inherited or spontaneous mutations in mtDNA or nDNA, which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. Definition from Mitochondrial Disease News

The report states that this variant is not present in population databes and has not been reported in the literature in individuals with SDHA – related diseases. Basically the evidence is at this time is not there to determine the role of this variant in the disease.

Image result for picture of mitochondria

( The most prominent roles of mitochondria are to produce the energy currency of the cell, ATP (i.e., phosphorylation of ADP), through respiration, and to regulate cellular metabolism. The central set of reactions involved in ATP production are collectively known as the citric acid cycle, or the Krebs cycle.) (Wikipedia – definition)

As mentioned back in 2014 when I got cancer genetic testing was 1. not covered by insurance and 2. was very expensive.

A 2013 NYTimes Article discussed the BRCA1 and BRCA2 testing cost and called it outrageous at a price of $4,000. Today my test cost about $1,500 for a wider range of testing and I paid about $235 for it. Insurance covered the rest.

Was it worth the $235 for me to have peace of mind that I did not inherit a predisposition for cancer. As a person who had cancer the answer is yes.

Part of Invitae disclaimer: DNA studies do not constitute a definitive test for the selected conditions in all individuals. It should be realized that there are possible sources of errors….

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