DNA Testing

IMG_0248What you can learn from your 23 & Me data

I have heard folks doubt the value of DNA tests. They will say, ‘it’s not ready for prime time’ or they are scared about what they might learn. My DNA thinks I should be an obese hypertensive at risk for diabetes (I’m none of these things at present), I subscribe to the saying that it’s a matter of DNA loading the gun but environment pulling the trigger. A risk is not a reality. Knowing the risks allows you to use the power of lifestyle to prevent problems before they start. Let’s take a look at the pros and cons about testing  and options for analyzing the data.

Testing Pros

  1. Simple, painless, home gathered cheek swab
  2. Compared with other lab tests, it’s low in cost. About $100 for a 23 & Me test. Costs rise for Quest, LabCorp, hospital or specialty lab testing.
  3. Data is encrypted and only you have access and ability to share. You can always use a false name when submitting data for an extra layer of protection.
  4. Although 23 & Me no longer provides a health data report, users may export their data to a number of sites that provide this service. More on this below.
  5. Learning about your genetic Achilles heels means you can work to prevent problems before you ever face a diagnosis. This is the cheapest and most effective time to intervene.
  6. “It’s fun!”, says my inner geek. Apparently, I had a small chance of green eyes. A lost opportunity if you ask me.
  7. Can help guide choice of drugs when there are many in a class from which to choose.
  8. Informs you of risks for addiction to nicotine, cocaine and other addictive drugs. Maybe this is the information that makes your kid think twice before trying something, ‘just once’.
  9. If you have scant health history data due to adoption or missing parents, this can fill in some gaps as to your health risks.

Testing Cons

  1. You have to order the DNA kit yourself and export data to the interpretation site(s) of your choice, at extra cost. There is a learning curve to some of the interpretation reports and you might need the help of a health professional to figure out what’s important.
  2. Although data is encrypted, there is always a remote chance your data could be hacked or stolen. Without your name on it, it is hard to see how this would hurt you but, you decide.
  3. It’s not free. $100 for the DNA test and $10-100 for most of the interpretation sites. It could add up if you decide you want to run data through many sites.
  4. The ‘recreational’ DNA services like 23 & Me are not intended for diagnosis. Problems found on this test may require additional follow up tests at a regular lab to confirm.
  5. There could be scary stuff. Maybe you carry genes for breast cancer or dementia. If you aren’t ready to handle the truth and take action- maybe it’s not for you.
  6. Not all genes are tested. 23 & Me has reduced the number of tested genes since they started so you cannot see what they don’t test on the chip.

If a gene has a SNP (‘snip’) it means that the function of that gene has been affected. Sometimes the effect conveys both blessing and curse. A gene for sickle cell disease means you have less susceptibility to malaria. Most genes are like that, and it’s likely why so many variations exist- it helps somebody, somewhere. Genes that predispose to obesity may confer a survival advantage if food is scarce. A SNP may show only a mild, almost undetectable impact on a person or a significant problem. Many SNPs can be influenced by environment through something called epigenetics- the changing of gene expression by environmental factors. If you have problems with B12 metabolism, adding foods or a supplement of the right form of B12 can be using epigenetics to ‘fix’ the SNP. That’s where knowing your DNA data is helpful.

It is early days for DNA. Not all the genes that are important to a disease are represented and we don’t know how many of the genes interrelate. There is a man whose data I looked at that has 12 genetic SNPs ‘in the red’ for ulcerative colitis but yet, he has no symptoms.  This is likely a case of epigenetics. Something he is doing (good diet, stress management etc.), or not doing (no antibiotic or infection exposure) and probably the presence of other genes that counteract the risky ones, has kept him symptom free. Maintaining this and being careful to keep bowel irritants out of his life, will hopefully keep him feeling great.

A few patients have had difficulty with nutrient levels and fatigue. A look at their genes showed they would be better off with a methylated form of folic acid and B12. They did improve after we changed their supplements. SNPs on vitamin D receptors may help explain why your levels are low despite supplementation and allow us to work out a dose specific for you. The list of things we can customize to your unique biology can be long.

Once you mail your kit to 23 & Me, you’re emailed results in a few weeks. You can access your raw data on their website and look up any gene you want or get ready to open the Pandora’s box of analysis services. Let’s look at some I use:

StrateGene: $45 dollars gets you an analysis of the most impactful gene SNPs (single nucleotide polymorphisms) that impair the functioning of critical pathways (folate & methionine cycles, transsulfuration, histamine & biopterin pathways). While very detailed and precise about how each SNP affects the system, it’s complex for an average user to use. Best for working with someone who knows how to use the data or be prepared to crack out your biochemistry textbooks. They delete your data off their site within a short time so save it to your computer if you want access in the future. Dr. Lynch has an extensive library, a new book and courses on his site if you want to learn more. I found his material and experience impressive.

DNAFit: For $199 you get a kit that tests your DNA with them or, for less, you can import your 23 & Me data and get back a user-friendly print out of specific genes that impact your fitness and/or nutrition. I tried out the premium fitness plan and found the report straightforward and user friendly. It addressed genes only in the category of fitness and diet so- nothing scary here. It confirmed my belief that I’m built for endurance sports, have no future as an Olympic athlete due to average VO2 max capacity, should take extra omega 3 fatty acids and can be prone to tendon and ligament injury. I concur. They do tell you what genes they looked at to get the information so you could use that to see what else these genes effect, if you felt inclined. VEGF for instance, impacts more than just VO2 max. More of an easy, limited and fun look at your data.

MTHFR Support: For $30 you get the motherlode of all things genetic dealing with methylation (how genes are turned on or off by the addition of things called methyl groups). A color-coded list of all your genes indicating green for ‘wild type’ (that’s normal), yellow for heterozygous (altered function) or red for homozygous (more altered). It is a comprehensive list (mine was 47 pages long!) of all the genes and their status. No interpretation as to what this means for your health risks but I find myself going back to this list frequently when I read an article about the impact of a gene in a study to see how I fare. The Sterling App on this site keeps your data so you can refer back at any time.

SelfDecode: For $59 for an individual or $118 for a family (max 3 people) per year, this site offers a nice mix of all the data in an easier to understand format. You can search specific health concerns by category, like aging, addiction, nutrition, drug response, methylation and health risks as well as by individual gene. The categories come with a report card that gives you an A+ through F rating for all the genes in the category. This will list the scary stuff like cancer risks as well as the fun stuff like how fast you metabolize caffeine or handle lactose. There are good tutorials and forums and the developer is frequently updating the site with the newest research. You can ask the developer to add genes of interest and even form custom gene panels. I have a professional level access to this program and it’s my go-to for a quick look at what’s important when helping a patient understand their data. If I had to choose only one program, it would be this one.

Promethease: $10 will get you an emailed report or you can view online. Save it to your computer because it will disappear from the server after a time. This has a decent assortment of data but you have to scroll through the data rather than being able to see it at a glance like SelfDecode and harder to make sense of the results as they are measured against the genes in the category by looking at a little pie chart at the top of the page. Nice coverage of genetic impact on medications. Gets a best-in-show for the price point, it’s a seamless download and report generation procedure.

Clearly, I have run my own reports through all these services. What have I learned? I know I risk side effects with statin drugs but can safely use blood thinners, if needed. Seeing my risks for obesity and diabetes, I exercise regularly, get enough sleep and try to avoid refined carbohydrates. I watch my blood sugar labs more closely than I would normally and use targeted supplementation to increase my insulin sensitivity. Since macular degeneration (a specific kind of vision loss) is a risk, I use blue light blocking software for my laptop and phone, screen myself annually with a free online Amsler Grid test to catch the first sign of any change, use blue block lenses in my reading glasses, sunglasses when outdoors and take a supplement research says will help keep my retinas healthy. If I can prevent or delay the onset of any of these diseases, it will have been well worth the effort. For me, it’s reassuring to know that I don’t have the ‘scary’ cancer, heart disease or Alzheimer’s genes, but if I did, I would know how to change my lifestyle to mitigate the risks.

All these services have their niche depending on what you want to know or avoid knowing. I believe there is useful advice here. The services I like best, in the hands of a professional or savy and dedicated layperson, can show what lifestyle changes offer the best chance to avoid disease, which drugs may cause trouble, what genes help explain why you are a unique snowflake of personality and which diet and foods are your best options. It’s the closest thing to a personalized user’s manual for your body. DNA results are like the ghost of Christmas future in the Christmas Carol, it only tells you what can happen, not what will happen. The outcome is in your hands.

 


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