Glenn Stok is a technical writer with a Master of Science degree. He enjoys evaluating products, and can clearly explain their features.
Today’s research and technology gives us opportunities we never had before. Now, with DNA testing, we can learn about our family ancestry, discover potential health risks, and learn if we are a carrier of gene variants that could affect our family.
Many DNA testing companies exist today that offer genetic testing services. I used "23andMe," and I learned about our family history going back 800 years.
With this article, I’ll give you six takeaways.
- A basic understanding of DNA.
- History of how DNA scientific research began.
- How to get your DNA tested.
- A list of various disorders from gene mutations.
- How to search test results for your gene mutations.
- The benefits of DNA testing for our future.
What Is the Purpose of DNA?
DNA is short for Deoxyribonucleic Acid. It was discovered by Friedrich Miescher in 1869, but it wasn’t until 1953 when James Watson and Francis Crick identified its molecular structure.
DNA is 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 has 23 pairs of chromosomes—one from each parent, totaling 46 chromosomes. That 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 reaching high hanging fruit from trees.3
Gene mutations can cause undesired results, however. For example, a minor variation of the genes that instruct our bodies to grow with five fingers can cause a person to have six fingers. That 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.
That 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.
Why I Decided to Get a DNA Test
I thought 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 at first.
My sister started talking about doing it just for the ancestry information, so I chose to do it for 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 correlations between my sister and me.
This information gave us both a better understanding of the issues we had growing up. I’ll share one with you later, although the primary purpose of this article is to help you get the most value from having your own DNA analyzed.
How To Get Your DNA Tested
In the year 2000, it cost $1 billion to sequence the DNA in your entire genome. In 2010 that dropped to $10,000.5
By 2017, the cost was under $100 to study your 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 saliva collection tube 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
- Living DNA
- GPS Origins
- GED Match
Why I Chose to Use 23andMe
23andMe was co-founded in 2006 by Anne Wojcicki, the wife of Google founder Sergey Brin.
I chose to get a test kit from them because I read that they have the largest DNA database, they provide the raw data that you can download, and they offer two options:
- Analyze your family ancestry for $99.
- Include a report of your health risks in addition to the ancestry info for $199.
After downloading the raw data, you can send it to other firms to analyze it further. But you can also search your raw data file online to find specific genes without downloading.
With a Google search, you can find the genes associated with various diseases. So you can search for health-related gene mutations without paying 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, if you allow that option, so you don't need to send another sample. Also, If you let them save your data in the database, future comparisons can be made as more people send in their DNA for testing.
I once received an email from 23AndMe saying they found someone who 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 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 that 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.
They might notify you 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 associated with some diseases and disorders. 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:
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 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 in which you’re interested.
- Look for variants or mutations.
Gene Mutations and Their Related Diseases and Disorders
I'll describe the gene mutations of several diseases and ailments I had researched in the following sections. The actual research conducted by the Human Genome Project goes into enormous detail. To keep it reasonable, I'll just give you a summary of each.
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 the 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 that gene mutation 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
We all have these genes that help suppress tumors that may become cancerous. They are part of the human genome. However, 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
I tend to have Irritable Bowel 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.10
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 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.11
Two of the most common variants associated with a 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.12
Little is understood about this. It could be as minor as merely having small 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.13
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.14
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 also.
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 brief nuisance. My sister and I both recognize people after meeting them 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 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:
In Conclusion: How This Benefits Our Future
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
As for fear of discovering you might be prone to have a life-threatening illness, I think knowing it can help reduce its possibility because you might change your lifestyle to avoid its onset.
According to an article in Psychology Today, a research study known as Epigenetics has shown that gene expression can be turned "on" or "off" by external factors. When we lead a healthy lifestyle with a proper diet, less stress, and exercise, we could turn off genes that cause disease.17
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 many human disorders.
You can be part of the study while also benefiting from the research to discover your own destiny.
- What is a gene? Genetics Home Reference (May 26, 2020)
- Evidence of Common Descent | Wikipedia
- Nicola Davis (May 17, 2016). How did the giraffe get its long neck? | Guardian News and Media
- An A to Z of DNA Science, Jeffre L. Witherly, page 97 - Cold Spring Harbor Laboratory Press
- Cost of DNA testing. Discover Magazine, January 2011.
- Alzheimer's genes: Are you at risk? - Mayo Clinic
- The Genetics of Cancer - cancer.gov (October 12, 2017)
- Human Gene Database - GeneCards
- BRCA Mutations: Cancer Risk and Genetic Testing - cancer.gov (Jan 30, 2018)
- Daniel J. DeNoon. (September 28, 2009). Gene Variant Raises Crohn's Disease Risk - WebMD
- Genentech Strikes Deal with 23andMe to Study Parkinson’s Genomes - ALZ Forum (January 15, 2015)
- 23andMe’s Parkinson’s Awareness Month (April 18, 2017)
- Gene links to Tourette's syndrome. Science Magazine (October 14, 2005)
- Prosopagnosia - Wikipedia
- Diagnosis of a Genetic Disease - National Institutes of Health
- Rob Stein. (August 2, 2017). Scientists precisely edit DNA in human embryos to fix a disease gene - KPCC News
- What Is Epigenetics? - Psychology Today
This content is accurate and true to the best of the author’s knowledge and is not meant to substitute for formal and individualized advice from a qualified professional.
© 2017 Glenn Stok
Glenn Stok (author) from Long Island, NY on October 07, 2019:
Susan Rodgers - No, that’s not true. My report gave me results from both parents.
Susan Rodgers on October 07, 2019:
I've heard that these DNA tests only give you results from your maternal side. Is this true??
Glenn Stok (author) from Long Island, NY on April 18, 2018:
Liz, Since you mentioned Prosopagnosia, I actually wrote a separate article with full details on that condition. Lucky for you that you don't have it, although some people just have a mild case of it.
It can be a nuisance sometimes, and more embarrassing other times. Forgetting names is more manageable. Everyone forgets names at times, especially when meeting a lot of people all at once.
Liz Elias from Oakley, CA on April 18, 2018:
Stopping by again; I just got my Ancestry(dot com) DNA results! I was so jazzed my younger daughter got me a kit for a holiday gift last December. But I didn't do the test until February, as I was sicker than a dog all of January! I didn't want the test to tell me I was half human and half virus! LOL
Anyhow, the price has gone down, and I've now made enough on HP to be able to order a kit for my husband. It arrived in mid April; hopefully, the results will be back in time for his birthday in mid June!
In looking over the Prosopagnosia information, and your poll, I don't have exactly that; I think it's more a matter of bad memory.
I readily recognize a FACE I've met before; my trouble is in recalling their name. I've had several interesting conversations with folks (because I know I have met them; their face is familiar), on topics of mutual interest, and all the while, in the back of my mind, I'm desperately rummaging through file drawers for their name, damn, the name...the NAME! ;-)
Glenn Stok (author) from Long Island, NY on April 17, 2018:
Paula - Your story is interesting and the details you discover once you get the DNA results will prove educational for you, I am sure.
You’ll understand more about the reasons for the similarities that you have already noticed. I'm sorry to hear you have these issues, but the actual DNA history may be enlightening.
Suzie from Carson City on April 17, 2018:
Glenn...This is GREAT! Thanks so much for such a detailed explanation of your 23 & Me experience. I have been seriously impressed with this all since it hit the scene as being available to us. Have had discussions with some people who sent in for their results and find this so fascinating and amazing. I especially appreciate your recommendation of which company to use.
Being the strict budget-guru I have always been, I was waiting until I had an "EXTRA" $200 of Mad Money to spend on this (what I call) luxury.....I wonder, will my DNA explain my analytical mind or can I just continue to blame my upbringing?? LOL
Good grief, Glenn, in terms of "health," although I'll be eager to see the Big Picture, I probably don't need to go further than back to my mother! I share IDENTICAL issues with my mother thus far....in terms of the bad news. I have arterial artery disease, as she did, diagnosed at the same age with all the very same symptoms and problems. Open heart surgery at the same age....to replace the same 2 arteries and repair another identical one. We have an identical cluster of white hair at the exact same spot of our hairline on the right side of our head. We each have an identical birthmark, same size, color and location. The size and shape of our bodies are inch by inch, curve by curve, fat cell by fat cell....identical and we both have arthritis concentrated in our left ankle and right wrist. Actually, I could list more, but I won't take up more of your time.
Your article has convinced me I need to do this......NOW!
Interestingly enough, my 1st cousin (her Dad-My Mom siblings) sent for her test. All of our parents ( & family of that generation) are gone...BUT, for all our lives, we KNEW we were Italian (grandparents arrived at Ellis Island from Sicily eons ago) However....her information knocked us off our feet by informing her she has MORE Greek DNA than Italian! Our ancestors never spoke a single word of this possibility....more than likely, they didn't know?? Obviously the info that likely came from her mother's side was not of much interest to me but I am excited to discover my Dad's side.
I may choose to write about my experience when I've discovered WHO I am. Thanks again, Glenn. Peace, Paula
Doris James MizBejabbers from Beautiful South on April 16, 2018:
Glen, I bit the bullet and ordered a DNA test kit from 23andMe. I bought the full genetic and health reports. In fact the DNA tests were Christmas presents that my husband and I gave each other. The health results were astonishing. Health problems that I have were some that I was not at risk for, and there were several health problems that showed a genetic risk, but I don't have. Maybe my problems result from eating too much Southern potatoes and beans and cornbread. LOL
Also, I was disappointed the company states the gene test is not detectible past one's grandparents, which leaves out my Native American and Mediterranean ancestry that genealogy says I have. My test came out 100% Northern European, and I should be a pale skinned blond with light blue eyes like my mother. My features are not of Northern European. I had almost black hair, medium complexion and very dark blue eyes, plus other physical traits of Native American and Mediterranean. I'm 69% Celtic and 21% French and German and don't show those physical characteristics at all.
My husband is Cherokee with tribal ties. As a child, he would visit his great grandmother on the reservation in Oklahoma. His results were also 100% Northern European.
Indeed there are a lot of surprises in DNA testing. I was pleased that we got the results so quickly, and it makes me wonder if possible errors were made.
Glenn Stok (author) from Long Island, NY on October 31, 2017:
Yes Liz, it doesn’t take much time to get the results in the lab. The reason why we wait a few weeks is because, at a cost of only $100, there is a huge backlog of samples that need to be handled in the lab.
When forensics order a DNA check, such as in those cop shows you were talking about, it’s given a high priority so that it gets done first.
Liz Elias from Oakley, CA on October 31, 2017:
Awesome research, Glenn! I'm very interested in all of this; wish I could do the study, but our budget is so tight that even "under $100.00 (i.e. $99.!)" I/we can't afford it.
It would be great to know the ancestry part, although I think I know most of it already, thanks to great record-keeping on my mother's side of the family. I do know I am of French descent on my father's side; and mixed British/Irish (and maybe some Scots?) on my mother's side.
I'm surprised, though, that the test involves spitting into a capsule; I always thought the preferred method was getting a tissue sample via swabbing the inside of the cheek...
The thing that perplexes me, however, is the amount of time it takes...weeks! And then I wonder at the veracity of the research on cop shows; (I know they all have expert consultants on set to keep it "real.") ...but to have a DA order a DNA test, and say, "...and I want it in my hands for court in the morning..." well...gosh...if it's really possible to process it that fast...LOL
Glenn Stok (author) from Long Island, NY on October 12, 2017:
Gina Valley - Yes, I enjoyed learning my ancestry going back as much as 60,000 years. Most of us have some Neanderthal in our ancestry.
Another thing that continues happening, as you will find out, is that they send you email notifications whenever someone else matches your DNA as a close relative.
Gina Valley from Arizona on October 12, 2017:
I recently received results from 23andMe and reading the results was just so much fun. I had an idea regarding my ancestry but there were a few surprises! I loved the timeline that estimated how many centuries back my ancestors were in different regions of the world.
Glenn Stok (author) from Long Island, NY on September 06, 2017:
Julia, I didn't post your comment since you have your personal email in it. But to answer your question, I know that 23andMe gave me a thorough report and it will probably work for you too. Since you are concerned about your genetics, you should give it a try. You'll need to do the complete test with the $199 kit.
Glenn Stok (author) from Long Island, NY on August 23, 2017:
Audrey- When you do it, you'll also find out how much of it is in your ancestry. I found I have small percentages of many other nationalities. Over thousands of years there was a lot of intermixing among people, but in my case these accounted for less than 1% of each. Nevertheless, it's interesting to discover what's in your history.
Audrey Hunt from Idyllwild Ca. on August 22, 2017:
I'm thinking of sending for my DNA through 23andme. I've been told I have American Indian blood running through my veins and I'd like to confirm this. How exciting to know this is available now at such a reasonable cost.
Thanks for the information and all the research you've done. Enjoyed the personal touch.
Alyssa from Ohio on August 22, 2017:
Interesting and informative article! It's amazing to think how far science and technology have come. My mother-in-law recently did DNA testing for herself and my father-in-law, just for ancestry purposes. It was interesting to hear their results and they were both excited about finding new family members. As I get older, I become more curious about genealogy, but more so than that, it would be useful to find out what health risks I might face in the future. Thank you for the information! :)
Glenn Stok (author) from Long Island, NY on August 21, 2017:
MizBejabbers - Sorry to hear you have do many health risk conditions in your family, and my condolences for the lose of your son. A DNA study in your case may not give all the information you may need. Diverticulitis, for example, is not ralated to a gene mutation, but rather to a practice of eating a low-fiber diet during formative years.
Doris James MizBejabbers from Beautiful South on August 21, 2017:
family carried an autoimmune disease (my son died from it), dairy allergies and diverticulitis. So far only the colon cancer has bypassed me. I'm just thankful I'm not of African descent, too, or it would have been my luck to have sickle cell.
Glenn Stok (author) from Long Island, NY on August 21, 2017:
Heidi - You can actually opt out of being matched with any relatives with 23andMe if all you want to know is your ancestry or your health risks.
Heidi Thorne from Chicago Area on August 21, 2017:
I've pondered doing this fascinating study, just for curiosity's sake. I could predict some of the health DNA results based on family history. But it would be interesting to see if it jibes with empirical evidence.
I don't really want to connect personally with far removed relatives, but I would be curious about what kind of a mutt I am. :)
In years past, people were very concerned whether they were related to this or that royal blood line. Today, I don't think people care that much. They just want to know where they come from. Cool that you've been able to trace back 800 years. Hmm, that would put you in the middle of the Middle Ages.
Thanks for sharing your experience with this test! I might be inclined to try it one day.
Leah Kennedy-Jangraw from Massachusetts on August 21, 2017:
Great article, thank you for sharing. Lots of great information here. It is nice to get an individual's account of using one of these DNA sequence services. I am intrigued that we are able to get our genome sequenced and evaluated for such an affordable price. I think it is great you allowed your information to be added into the public database.
Glenn Stok (author) from Long Island, NY on August 21, 2017:
Sally, It's hard to say if insurance costs would go up or down. Another way of looking at it is that if more people took better care of themselves when they know they are prone for a particular illness, they may actually avoid it and costs would go down. Unfortunately, I know a lot of people who just don't care even when they know.
Sally Gulbrandsen from Norfolk on August 21, 2017:
This is such a fascinating hub. This type of research will surely play an important part in the future. We should learn more about the health of our whole nation and also manage to build a database of where we all came from. It might save the NHS a lot of money if patients were tested for associated diseases in their DNA long before they develop. However, I imagine the health insurance companies would probably become more expensive if this info were to leak out. If cost were not an issue I would definitely have this test done if only to know my own health risks associated with my DNA.