A Review of DNA Testing to Discover Your Ancestry and Health Risks
I was thinking it would be good to know what health problems I may develop as I get older. Some friends said they don't want to know. That thought was on my mind too, making me hesitant to get my DNA analyzed.
Then my sister started talking about doing it just for the ancestry information, so I chose to do it too for the sake of comparison. The results were fantastic!
Not only did I learn much more than my parents ever knew about our family history going back 800 years, but I also got to see interesting comparisons between my sister and me.
This information gave us both a better understanding of issues we had growing up and never spoke about. I’ll share one with you later, although the main purpose of this article is to help you get the most value from having your own DNA analyzed.
I’ll give you a basic explanation of DNA and some history of how the scientific research began. In addition to having your DNA analyzed for ancestry information, I’ll also explain how you can search your DNA results for specific genes to determine your future potential health risks.
What Is DNA?
DNA is short for Deoxyribonucleic Acid. It’s the carrier of genetic information that describes how living organisms develop. Genes are arranged in long strands of tightly packed DNA called chromosomes. They are the basic physical units of inheritance.
Human DNA is made up of 23 pairs of chromosomes–one from each parent, totaling 46 chromosomes. This includes two sex chromosomes (X and Y).
The chromosomes contain hundreds of genes that provide the instructions for making proteins. These proteins instruct various cells of the body to perform in different ways.1
To say it another way, our DNA holds the exact data that describes how every cell in the body works and how they form various parts of our bodies. Such as eyes for seeing, ears for hearing, and so on.
You have five fingers on each hand because your DNA instructs the cells to grow that way. However, if genes in your DNA mutate, these variants can cause the gene to malfunction, causing disease and other disorders.
How DNA Mutations Affect Evolution
Since the discovery of DNA, the genetic information gave scientists the ability to develop phylogenetic trees that show how various organisms are evolutionary related.2
Gene mutations cause changes to take place from one generation to the next.
Some of these changes are useful for the evolution of the species–with changes leading to enhanced survival. For example, giraffes evolved with long necks due to genetic mutations because they benefited by being able to reach high hanging fruit from trees.
Humans developed into upright walking creatures due to a genetic mutation resulting in a spine suited to standing on two legs.3
Gene mutations can cause undesired results, however. For example, a minor mutation of the genes that instructs our bodies to grow with five fingers on each hand can cause a person to have six fingers. This is called Polydactyly.4
Six fingers may not be such as bad thing, but other mutations can cause genes to malfunction in more terrible ways, such as life-threatening diseases.
The Human Genome Project
We live in an interesting period where science and technology may overpower the natural laws of evolution.
The creation of a chromosome map of our genetic blueprint has been in development for many years now. It’s the result of the Human Genome Project. This research provides precise indicators of the functions of various genes and is helping to discover methods to fight disease through Gene Therapy.
The collection of DNA data from an increasing number of people leads to a better understanding of various gene mutations and how they affect our health.
This is what has created the growing business of DNA analysis by several companies. This process is so common now that anyone can have their DNA analyzed and receive a detailed report of their ancestry, as well as their genetic future health risks.
How To Get Your DNA Tested
In the year 2000, it cost $1 billion to sequence the DNA in your entire genome. In 2010 the cost dropped to $10,000.5
Now, in 2017, the cost is under $100 to study your DNA for ancestry data and under $200 to include sequencing your DNA for disease-causing gene mutations.
Several firms provide test kits that make it easy to provide your DNA via a saliva sample. You spit into a special container and mail it back to the lab. Then after the analysis is complete, you can view your report online. The submission is anonymous for privacy reasons. Your saliva sample is coded and you need that code to access your report.
Several companies provide DNA testing, and I did my due diligence to find what I felt is the best.
DNA Testing Companies That I Researched
Family Tree DNA
I chose to get a test kit from 23andMe, which was co-founded in 2006 by Anne Wojcicki, the wife of Google founder Sergey Brin.
I read that they have the largest DNA database, which was one of my deciding factors.
They offer two options:
• For $99 they analyze your family ancestry.
• For $199 they also give you a report of your health risks.
The thing I liked the best about 23AndMe is that they provide your raw data that you can download. You can actually search your raw data file online to find specific genes. With a Google search you can find the genes associated with various diseases. Then you can search for health related gene mutations without having to pay the extra fee for the health report.
Saving Your DNA for Future Comparisons
If you don’t like to do your own search, you can still start with the ancestry study, and if you decide later you want the full analysis of your health and possible diseases, you can order that for an extra fee.
They save your DNA so you don't need to send another sample. In addition, since your data remains in the database, future comparisons can be done as more people send in their DNA for testing.
I received an email from 23AndMe saying they found someone who totally matched my DNA. I thought some prior girlfriend had a baby just after we broke up and didn't tell me. When I checked the details of who it is, it turned out to be my sister. Duh! But of course.
That shows how well the procedure works. Our individual submissions were anonymous and there was no way they could have related us, other than by the DNA. As I mentioned earlier, when you send in your saliva sample, it’s coded with a number only you know.
DNA Privacy Concerns
If you’re concerned about privacy, you can opt to have them destroy your DNA after the initial analysis. However, I enjoy the advantages of saving it because as more people have their DNA analyzed, the data goes into a common database.
You may be notified in the future that a distant cousin has been found. How cool is that?
Once again, for privacy reasons 23andMe lets you opt out of sharing information to find future relationships if you don’t want that option. It’s your choice.
Gene Mutations Related to Various Diseases
It's not difficult to find out which genes are related to specific health issues. For research purposes, I searched Google for the genes related to the following diseases and conditions. Then I just typed that genome name into the search field under the raw data page on my 23andMe account.
The following table lists a few examples of the genes associated with various disorders.
PRAC1, BRCA1 and BRCA2
Prosopagnosia (Face Blindness)
PARK8 and LRRK2
How to Search for Gene Mutations in Your Raw Data
I found that it’s easy to do a Google search for any disease to find the gene involved. What matters is if you have a mutation of that gene which affects the specific cell’s ability to function normally. These are also considered variants of the gene.
A Google search will also bring up useful information detailing the aspects of the gene mutations and how they relate to the disease about which you’re seeking information.
Once you know the gene, you can search your own raw data file online to see if you have the mutation.
- Log into your 23andMe account.
- Click the Tools pull-down menu (shown below).
- Click on “Browse Raw Data”
- Enter the name of the gene you’re interested in.
- Look for variants or mutations.
Gene Mutations and Their Related Diseases and Disorders
In the rest of this article, I describe the gene mutations of several diseases and ailments I had researched. I kept the details to a minimum for easy reading. The actual research being conducted by the Human Genome Project goes into enormous detail that is not the subject of this article.
Alzheimer’s Gene Mutation
The presence of Alzheimer's can only accurately be confirmed with an autopsy. However, recent innovations done at the University of Pennsylvania allow detection during one's lifetime by taking the cerebrospinal fluid from the spinal column with a syringe. Detection of amyloid and a protein known as tau in the spinal fluid are markers for Alzheimer's.
Now, DNA studies also provide evidence of a gene mutation that is related to late onset of Alzheimer's. The APOE Gene is much more complex than I will get into here, but one variant of its mutation is known to be related to the risk of Alzheimer's disease.
Some people with the gene mutations never develop Alzheimer's and some people who don't have the mutations do develop it. Therefore, the present research indicates that other things may cause it. The genes only suggest a risk factor.6
Several genes are related to cancer. We all have these genes. They are part of the human genome. They actually help suppress tumors that may become cancerous. If these genes mutate, then their ability to protect us is hindered.7
Here’s a quick explanation of these cancer-related genes:
PRAC1: This gene protects the prostate, rectum, and colon. If it mutates then it may fail to protect.8
BRCA1 and BRCA2: Mutations of these genes increase a woman’s risk of breast and ovarian cancer.9
Congenital Prosopagnosia (Face Blindness)
I always knew I had trouble with recognizing people until I met them at least two times. About 2.5% of the population is afflicted with face-blindness.
There is a scientific name for it: Prosopagnosia. Mine is congenital, which means that it’s inherited. It can also be brought on by brain injury later in life. A variation of the oxytocin receptor gene (OXTR) is responsible for the congenital version of this condition.10
As a child, I was aware that my father always said hello to every stranger he passed on the street. Now I realize he must have had Prosopagnosia too, and that was his way of dealing with face-blindness to avoid embarrassment. Aha! He had it too.
For me, it's embarrassing at times when I meet someone a second time and don't know who he or she is. I'm okay after meeting someone more than two or three times, so I deal with it.
I spoke with my sister about this after she found this gene in her DNA too. We never shared this knowledge before, but we both have experienced episodes of embarrassment when people would wonder why we didn’t say hello the second time running into them. It’s just a temporary nuisance, we’re both fine after meeting someone a few times.
Finding this in my DNA gave me closure. At least now I understand why I have this problem.
Prosopagnosia Survey Question
I actually think a lot more than 2.5% of the population have this condition, because now that I know what it is, I mention it to people, and many tell me they have experienced the same problem.
I think the statistics are low because most people who have this condition don’t understand what it is, some think it’s normal behavior, and some may just be too embarrassed to mention it. Therefore, I included this anonymous poll:
Do you have trouble with recognizing people who you met only once before?
I tend to have Irritable Bowl Syndrome, a gastrointestinal disorder that rarely affects me, but can flare up when I’m under stress. For this reason, I was wondering if I might develop Chron’s disease later in life because it’s related.
I searched for that gene in my DNA. A variant of the CD39 gene is associated with Chron’s.11
Lucky for me, I don’t have that variant. I feel it’s good to know these things because when you know you’re susceptible to a disorder, you can research proper ways to stay healthy by avoiding anything that can aggravate it.
I always hear stories about people who develop Parkinson’s later in life, such as Michael J. Fox. So I thought it would be good to know ahead of time if I might have that gene mutation.
An autosomal-dominant mutation in the LRRK2 gene can put one at risk for Parkinson’s disease.12
Two of the most common variants associated with significantly higher risk for Parkinson’s are the LRRK2 G2019S and GBA N370S mutations, so those are what you’d want to look for when you search your raw data for the LRRK2 gene.13
Little is understood about this, it could be as minor as simply having little physical ticks. I discovered in a 2005 issue of Science Magazine that a gene mutation could be linked to Tourette's syndrome.
A mutation of the SLITRK1 gene appears to lead to Tourette's syndrome in some people. This gene is in the cortex and basal ganglia, two areas of the brain that might be associated with Tourette’s.14
What the Future Holds with DNA Knowledge
The growing knowledge of genes and their involvement with genetic diseases and disorders is creating a revolution with human genetics and medical research. This knowledge creates the opportunity to diagnose and treat genetic diseases.15
In addition, science is providing methods to edit DNA in human embryos to fix a mutated gene to disable the development of a specific disease.16
With the growing amount of information in our gene pool, scientists are finding ways to apply that knowledge to correct defective genes in our DNA. This offers a future where we might find solutions to a number of human disorders.
You can be part of the study, while at the same time benefiting from the research to discover your own destiny.
4. An A to Z of DNA Science, Jeffre L. Witherly, page 97 | Cold Spring Harbor Laboratory Press
5. Discover Magazine, January 2011.
14. Science Magazine, October 14, 2005 issue
Questions & Answers
© 2017 Glenn Stok