Lots can be learned from genetic testing

About five years ago, my brother-in-law convinced me to do ancestry DNA testing through the company 23andMe.

I got a kit, gave a sample of saliva and mailed it away. I got my results and didn’t learn too much about my ancestry that I didn’t already know. I was mostly eastern European Slavic origin. I did learn I had a distant aunt or uncle who had some Italian ancestry.

This last winter, after taking an interesting medical course in genetics, I decided to do the 23andMe health testing. I paid my money online and I received my results instantaneously. Unbeknown to me, they kept my DNA (from the earlier test) and had already run the tests. Other companies don’t do that.

The health report was accurate and revealing about habits like coffee metabolism, eye colour, drug metabolism, methylation pathways and showed me I carried a gene from my mother’s side that predisposes me towards certain illnesses in later life.

Genetics, in simplistic terms, are the code that determines the assembly of different proteins in the human body. Different genes determine different proteins that are assembled.

Blood type, sex, hair colour, eye colour, muscles, bones and height are all a result of unique genetics for each person. Biochemical compounds like enzymes and hormones are also determined by genes. Scientists have estimated there are between 20,000 and 100,000, or possibly more, different genes in the human genome.

A gene is a sequence of a DNA or deoxyribonucleic acid molecule in the cell nucleus of most cells in the human body that codes for a specific protein.

In humans, DNA is contained in 23 pairs of separate molecules called chromosomes. Each pair codes for separate and unique proteins that the other chromosomes do not. One pair of chromosomes are inherited from one parent and one pair from the other parent.

While some genes directly code for a protein, many other genes turn on and off the expression of other genes. Scientists believe that less than 5% of genes in the entire human genome code for protein, while a much larger number act as biochemical switches. A large portion of DNA sequences is currently considered non-functional.

There can be variations in a DNA sequence that code for different but functional proteins that do the same thing. Other times the variations result in an abnormal or non-functional protein. Mistakes in coding for the sequence of DNA are commonly made. The body has an innate healing capacity to repair enzymes that help prevent this from expressing abnormal protein in most cases.

In some cases however, DNA is damaged and that results in damaged protein. Damaged protein may not work normally and can adversely affect human biological function. A gene sequence that results in abnormal, or non-functional, protein expression is called a “mutation.”

Scientists have identified many specific mutations that can impact human health and cause disease. The brca1 and brca2 genes are good examples of mutation that cause disease. Normally, those genes code for a tumour suppressor protein that repairs damage to DNA. Those two abnormal variants result an impaired ability of the protein to repair damaged DNA. That can lead to cancer, specifically in breast tissue. Having a brca1 or brca2 mutation dramatically increases your risk of developing breast and other hormone-related cancers.

Simple home DNA tests are now available that use a mouth swab sample (saliva) to identify abnormal genes in your own unique genome. Until recently DNA testing was very expensive but more recently the cost has come way done for what looks like fairly reliable testing.

The results of the tests can help identify genetic weaknesses and predispositions to specific diseases. You then can use this information to make dietary and lifestyle changes and nutritional supplements that can help override those genetic factors.

Abram was a wiry, iron clad, tough-as-nails widowed 90-year-old farmer from Manitoba. Several of his children who lived in the Okanagan convinced him to see a naturopathic doctor for some nutritional advice.

They complained that dad didn’t eat fruits or vegetables, ate too much meat, consumed too much sugar, smoked cigarettes and drank more than he should.

I introduced myself, motioned him to follow me to my office and extended my hand. His hand shake was firm and strong and his fingers were calloused and hardened. I asked the usual questions and asked him if he had any health concerns. He said no.

Was he taking any vitamins or prescription medicines? He said no.

I asked him if he wanted to change anything or take any supplements. He responded no.

I shook his hand and wished him well. Some people are blessed with good genetics.

DNA testing can be an important and revealing tool in analyzing your unique genetic traits and predispositions.

The information provided in this article does not, and is not intended to, constitute medical advice. All information and content are for general information purposes only.

This article is written by or on behalf of an outsourced columnist and does not necessarily reflect the views of Castanet.