DNA Testing: Is it Worth It or Too Inconsistent?

DNA testing is the new trend and everyone seems to peeking into what their DNA results uncover.

Obviously, I am a proponent of genetic testing – when used correctly.

When DNA testing is done improperly, people are finding inconsistencies. This leads to frustration, doubt, FDA crackdowns and a threat to future DNA testing.

After months of reading all the negative talk about 23andMe and other genetic testing companies, today is the day I had enough.

Let’s get started.

We must first define where people are finding inconsistencies in their DNA testing.

Is it in the testing itself or in the interpretation of the findings?

From what I have seen, the testing itself appears to be solid. The issues are in the interpretation.

DNA testing companies are trying to provide a service to the public. While this is a noble – and intelligent business move in terms of gaining revenue – it is also fraught with FDA regulatory issues and blatant inconsistencies in the interpretations.

23andMe has been all over the news recently due to the FDA cracking down on how 23andMe displays the individual’s genetic findings in what they call ‘Health Traits.’  Below, you see what 23andMe found in this person’s DNA test results – or I should accurately state: Below is what 23andMe interpreted based on the customer’s DNA test results:

23andMe Health Traits

Where did 23andMe obtain this information? How do they know for sure that this person’s prostate cancer risk is 13.7% and below average risk?

Research.

For the sake of ease, let’s continue digging into prostate cancer as an example.

There are many causes for prostate cancer

  • environmental
  • lifestyle
  • genetic
  • dietary

What does 23andMe provide – or any other DNA testing lab company?

A glimpse into an individual’s genetic code. They do not do full sequencing of the human genome – and even if they did, there would still be discrepancies in the interpretation thereby rendering it worthless to the average person.

When evaluating risk for a certain condition, one must evaluate all causes and not just genetics.

Genetic companies attempt to inform their customers with health traits and disease risks in a nicely presented fashion because that is what sells – people want easy. It is easy to look at a table such as the one above and think, “I have a decreased risk of prostate cancer. That’s cool.”

The issue is the research on genetic causes of disease are massively conflicting and this is why genetic testing companies vary in their interpretations of your data.

One research company may look at a certain set of genes for a given condition and another research company reviews another set of genes. Obviously, the genetic findings in this case will vary.

Let’s play devil’s advocate.

Let’s say all research companies evaluate the same set of genes for one specific condition yet their interpretations still vary.

Why would that happen!?

A couple big reasons.

  1. No genetic company is evaluating your lifestyle, dietary intake, environmental exposures, in utero exposures, in utero nutrition, full details on the first few years of your life (which are the most susceptible to establishing your immune and neurological system). That said, how can any genetic lab testing company firmly establish overall risk to a specific disease or health condition? They cannot.
  2. Research looks at a certain limited number of variables because they have to restrict the variables in order to analyze them. The limitation of variables in of itself a hindrance to accurate findings. Research may be looking at a few genes in order to determine a genetic predisposition, but that is not how the body works. It requires, most commonly, a number of genetic polymorphisms along with diet, lifestyle and environmental exposures in order for an individual to begin expressing a disease state. Of course, there are some genetic polymorphisms which are quite significant, such as MTHFR C677T, but even this may be bypassed through a healthy lifestyle, diet and environment.

What did 23andMe look at in order to determine this person had a decreased risk of prostate cancer? They looked at this:

Gene or region: 8q24 (region 1)
SNP: rs1447295

That’s it.

They looked at one specific area of one gene.

They did not look at the person’s:

  • possible inability to eliminate cadmium – which is a risk for prostate cancer.
  • ability to reduce free radical damage or inflammation – both of which are risks for prostate cancers.
  • dietary intake – which is a risk for prostate cancer especially if they eat grilled meats.
  • nutritional profile – which is a risk for prostate cancer especially if deficient in zinc or selenium.

So what to do? What to believe?

Understand what you are getting when you order a DNA testing kit.

You are getting a glimpse of your DNA – not all of it – not even close – just a snapshot.

In order to find gold in your DNA test results, you have to dig for it in what they call your ‘raw data’

23andmeraw

 

You can browse the 23andMe raw data for a specific gene or for a specific SNP to see what you have. The issue is then you have to translate that to understand if you have the wild type (normal) or risk allele. Then, you have to understand what this gene actually does, how it is affected by the environment, medications, lifestyle habits, nutrients and your dietary intake to name a few.

To compound the problem, then you have to understand how this particular gene or SNP interacts with naturally occurring hormones, neurotransmitters and other genes.

Standard medicine looks at us from a very segmented approach which is hugely ineffective.

When you have heart troubles, you see a cardiologist.

When you have skin troubles, you see a dermatologist.

When you have digestive issues, you see a gastroenterologist.

Obviously, well, it should be, this form of medicine is ineffective as our cells communicate with each other from all areas of our body. We are not compartmentalized.  Be nice if we were – and once again – this is a business decision and a way to standardize medicine. It is not in your best interest.

There is some good news.

You now realize what I spend many hours a day on – analyzing all these interactions – between genes, nutrients, hormones, environmental toxins, dietary intake, lifestyles and so on. I integrate them and then present my findings to physicians worldwide.

These physicians then more accurately understand how to integrate your genetic test results with your complete history

Bottom line question: Is DNA testing worth it?

Absolutely – when analyzed properly.

What do I recommend for DNA testing now that 23andMe no longer has their Health Traits available?

23andMe

I find the Health Traits to be misleading anyhow – as does the FDA. By now, you should understand why I feel this way. I hope you feel the same.

Once you get your 23andMe test results back, what you want to do is go right to your raw data and export it into a program called StrateGene.

While the StrateGene is still Greek to many, it does provide some key genes and their associated SNPs which you then can further read about and analyze with your doctor – who, hopefully, has some training in this area of medicine.

More and more doctors are receiving training in this area and as they do, I will be posting them here on MTHFR.Net and on SeekingHealth.org

I sincerely hope that this has clarified the inconsistent findings of DNA testing – and at the same time, does not prevent you from evaluating your DNA results with your doctor. When your DNA test results are analyzed along with your complete history, lifestyle, diet, environmental exposures and labs, amazing things may happen.

May those amazing things happen to you and your loved ones.

,

38 Responses to “DNA Testing: Is it Worth It or Too Inconsistent?”

  1. Gary January 1, 2014 at 1:43 am #

    Like you’ve said before, it’s not all in the genes, or genetic expression. I suppose some people might get that idea though when MTHFR, just as one example, tends to be overhyped.

    Thanks for the clarification. Hopefully others will see this article…

    And Happy New Year!

  2. Angie Croix January 2, 2014 at 8:06 pm #

    Thank You Dr Lynch,

    Although ALL that you say here IS “Common Sense”, sadly MOST folks when it comes to Money or Their Health, don’t SEEM to have that and there isn’t a DNA SNP for that as far as I know yet ~ LOL

    I was doing just FINE reading the 23andME interpretations, taking MY Epigenteics into account, but I guess MOST people, unlike MOST of your followers, are sadly not even aware of what Epigenetics IS yet.. hence the dimwits thinking one ingredient in a recipe IS the ONLY Ingredient needed for the “End Result” or product….

    Thank YOU for working with others like Dr Jess Armine and Jackson, etc that are helping us to delve deeper.

    It’s really SAD that the CDC, NIH, & FDA are truly NOT serving the Best Interests of the Doctor’s OR the Public in general, but either baby-sitting dimwits or selling their souls to Big Pharma.

    Thank GOD or the deity of your choice, for The RESEARCHERS with INTEGRITY !!!

    Thank YOU for all you have and Continue to do…
    You are already Helping MILLIONS….
    and sadly our MDs are over worked and can’t even “Keep UP”
    with the Current Info so we must BEG them to Learn
    these “New Cutting Edge” things
    since just going to your average HMO,
    will get those with anything chronic
    absolutely NO Where, except taking Big Pharma Drugs
    that ALL have Many side effects
    instead of Treating (Let alone Fixing) the Cause….

    I do have one question for you tho….
    Since many of us can/could not attend your
    Conferences at Bastyr….
    Is there any way after the fact
    that you can either post videos
    or sell DVDs so interested people can still
    get educated.. ??

    You have already “Changed my Life in a Positive Way”
    but as usual with an overflowing glass
    many other things also need addressing
    to get us back down to that Beautiful Glass
    That is Half-FULL 🙂

    Bless you and ALL of the Researchers !!
    Please Have a “Most Excellent 2014” ❤

    • Dr Lynch January 3, 2014 at 1:17 am #

      Hi Angie –

      Thank you for your post 😉

      I will be posting the DVD announcement as soon as it is finished. Should be end of Jan.

  3. Dinah January 3, 2014 at 3:24 am #

    Thank you for posting this well-balanced explanation about genetic testing and 23andMe. It answers the very question I wanted an answer to (about 23andMe). Now I have confidence in contacting them for testing. Much appreciate the work and publishing you are doing!

  4. Alina January 7, 2014 at 8:15 am #

    Thank you Dr. Lynch,
    I have wondered myself about what DNA test results mean. Recently I have done a genetic test through SmartDNA. 100 genes were tested including the MTHFR which of course came back defective. C677T and A1298C. Also some other detox (CYP1B1, GSTT1, GSTP1) and mythylation (MTR, SLC19A1) genes came back defective. What do I do with the knowledge though as I do not have any diseases or symptoms. Do I take the supplements recommended by you anyway in the same dosages and all the time?

    Also from what I know, let’s say cancer genes, is that because you have the genes it does not mean that you will have the cancer. Does the other mutations (including MYHFR) work the same way?
    But on the other hand if you have genes for brown eyes then you have brown eyes. It is not a matter of environment, diet etc. So confusing! How do I know which genes mean that I have something and which ones are just a potential?
    Thank you

    • Susan February 17, 2014 at 3:21 am #

      Alina, I believe that with the MTHFR and other Methylation gene defects, your body still has underlying issue’s however if your diet is balance in a way that bypasses these defects or corrects for them, you won’t have symptoms. Some of the studies have shown that people with some of the defects in Mediterranean areas don’t have the same symptoms and the thought is that the Mediterranean diet corrects for the problems the mutations lead to. It really shows how epigenetics play a role in disease expression. Methylation cycle is one area that it seems we can correct inbalances and improve our phenotype expression.

  5. James K. January 16, 2014 at 11:49 pm #

    It’s worse for some conditions because 23andme is looking at SNPs that have not been associated with the condition. My buddy looked at bipolar depression and checked Promethease. 23andme looks at an SNP that has not been confirmed for the condition but is near other SNPs that are associated with bipolar. Promethease looked at 100 SNPs but some were general mental illness.

  6. Dr. S. Maddox, D.O. March 1, 2014 at 8:47 pm #

    Dr. Lynch,
    Previously you have stated to a user that you, “question the validity of 23andme testing”. You went on to state the inaccuracy of 23anddme and questioned their methods. You further stated that you found “it hard to believe that saliva can produce enough DNA to test for so many SNP’s”. Please explain your dramatic change of heart on this issue and disclose any financial ties you have to 23andme. Thank you.

    • Dr Lynch March 3, 2014 at 8:37 am #

      Found your question.

      I had not approved it yet. This site would get tons of spam if I automatically approved every post.

      In short – technology has come a long way in 2 years in terms of genomics. Also – I compared their lab results with other genomic tests and they were in alignment.

  7. Dr. S. Maddox, D.O. March 2, 2014 at 3:40 am #

    Dr. Lynch,
    Why did you delete my question? Please explain why you have completely changed your stance on 23andme and please disclose your financial ties to 23andme. In the science and medical community it is standard practice to disclose financial ties to your research. You have an ethical and moral obligation to the people who place their trust in you and what you say. In 2012 you said:
    “I question the validity of 23andme testing. I find it hard to believe that saliva can produce enough DNA to test for so many SNP’s.”

    • Dr Lynch March 3, 2014 at 8:35 am #

      Hello –

      I did not delete your question – not sure which you are discussing.

      Beliefs change.

      In 2012, I had one belief and now I have another in 2014.

      I have no ties to 23andMe.

      My work done here is due to passion. That passion is:
      To reduce incidence of disease of unborn children.

      My passion is also to change the way healthcare is practiced – from sickcare to optimizing health.

      My research and clinical experiences have demonstrated key methods and protocols which, if done properly, may restore the health quickly and efficiently in many patients.

      Of course, there is much work to be done.

  8. terri March 15, 2014 at 12:48 pm #

    Thank you! I ordered 23 and me for SNPs info. I already know I’m compound heterozygous mthfr with normal plasma b12, folate, and homocysteine levels and very high b6 levels. Doctor appt is next month and in the meantime I’m googling trying to find info on high b6 in relation to mthfr but can’t. So, I’m trying to figure out what to do while I wait on my doctor till next month.

  9. Laurie March 27, 2014 at 9:54 pm #

    Such an interesting article and right away what hit home with me was your insight that the “big picture” MUST be looked at, however, it rarely is. Exposures to what, and where, even? I’m just a curious layperson who began to research tick born infectious diseases because of my family and ancestral known exposure levels going back centuries, to Scotland, and Germany. After losing a friend who lived in Australia to MND who was told it “ran in the family” = a genetically passed death sentence, I began to wonder about what effect infectious disease can have in terms of centuries, upon genetics within family bloodlines? An underlying bacterial infectious disease that is never found in the course of one’s lifetime could very well set the stage for an “altered state” of health for all within that family? I’m of the mind these blood born infections could be passed from one generation to the next, why not? In the case of Australia, where this friend lived, and also California, for that matter where I live, the bacteria associated with tick bite is still denied as being problematic or widespread within the populace. It is an “Emerging” infectious disease. I’m a pauper, cannot afford Dr visits. It’s not in the cards, for me! What also caught my attention were posted symptoms of MTHFR that also cross over the those of Lyme Disease.
    I research in hopes of finding answers to things that puzzle me. And I like science. I’m fortunate enough to know my family tree health histories on both sides 2 generations back which really are more like clues, when all is laid out and analyzed. I look forward to reading more of your articles.
    Sincerely, Laurie

  10. Sissy August 31, 2014 at 3:55 pm #

    Can you tell what is the difference between the testing you offer for $195 and the 23andme testing?

    • Dr Lynch September 3, 2014 at 7:31 pm #

      Sissy –

      Spectracell and Molecular Testing Labs offer MTHFR testing – which I’ve linked here.

      23andMe offers 1000s of SNP testing for $99.

  11. Sissy September 3, 2014 at 8:16 pm #

    So is there a difference between MTHFR testing and SNP testing?
    Thank you, so I don’t understand 🙁

  12. Rachel Kacsur January 5, 2015 at 12:03 am #

    Hi Dr. L, so where can I have the testing done while 23and Me is still unavailable?

    • Dr Lynch January 9, 2015 at 9:13 am #

      23andMe is available – ignore their statement and order the test. 😉

  13. Elvira January 10, 2015 at 11:22 am #

    Hi Dr L, When I got my mthfrsupport report back after 23andMe testing I noticed that there are a number of snps that seem to have no clinical relevance when you look at snpedia or clinvar. SUTL1A! gene snps is an example – I’d love to know my status, but none of the listed snps has anything published that I can find. I’ve tried to pull out the ones that have the most validity. How do you work out which snps to pay attention to, when so many are tested, and so little is still known? Do you have rs numbers for the methylation snps you particularly look at?

  14. Nelwyn Luman January 13, 2015 at 8:51 pm #

    I found this on the 23andme site.
    December 2013 – Pending an FDA decision, 23andMe no longer offers new customers access to health reports. Customers who received their health information prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will only receive their ancestry information as well as access to their uninterpreted raw data.
    Is there another site or lab that is reputable that you would recommend?

    • Dr Lynch January 13, 2015 at 10:33 pm #

      Ignore that and order the test. It’s there just for FDA reasons.

      • Nelwyn January 14, 2015 at 12:57 am #

        Thanks Dr. Ben.

  15. Vicki J. January 26, 2015 at 10:28 pm #

    Dr Ben,

    I hope you will read this and help me. You consulted with me about my son Jackson 2 years ago and he is 10 now. We got some of his methylation results back from 23andMe and I need help deciphering them and deciding how to supplement. We followed your protocol for healing his gut and he is so much better! I’m confused because some of the detox things we are doing for him I’m finding out aren’t good based on his mutations. (Fermented foods, Epsom Salts, NAC-D Hist, etc…) We need to know where to go next as he still suffers from PANS flares, low energy and fatigue…
    rsID Alleles Result
    COMT V158M rs4680 AA +/+
    COMT H62H rs4633 TT +/+
    COMT P199P rs769224 GG -/-
    VDR Bsm rs1544410 CT +/-
    VDR Taq rs731236 AG +/-
    MAO A R297R rs6323 T +/+
    ACAT1-02 rs3741049 AG +/-
    MTHFR C677T rs1801133 GG -/-
    MTHFR 03 P39P rs2066470 GG -/-
    MTHFR A1298C rs1801131 GT +/-
    MTR A2756G rs1805087 AG +/-
    MTRR A66G rs1801394 GG +/+
    MTRR H595Y not found n/a n/a
    MTRR K350A rs162036 AA -/-
    MTRR R415T not found n/a n/a
    MTRR A664A rs1802059 AG +/-
    BHMT-02 rs567754 TT +/+
    BHMT-04 not found n/a n/a
    BHMT-08 rs651852 TT +/+
    AHCY-01 rs819147 TT -/-
    AHCY-02 not found n/a n/a
    AHCY-19 rs819171 TT -/-
    CBS C699T rs234706 AA +/+
    CBS A360A rs1801181 GG -/-
    CBS N212N not found n/a n/a
    SHMT1 C1420T not found n/a n/a

    Thank you so much!!! I want to help my son feel better!!! I appreciate your wealth of information on this genetic testing and for inspiring us to do this for our son.

    Vicki

  16. Lora Lee Holley February 22, 2015 at 11:52 pm #

    I’m VERY new to all this and I don’t know all the lingo. What is SNPS? If I order from 23and me how the heck do I know what its saying? Thank you.

  17. Donna April 1, 2015 at 12:04 pm #

    Dr. Ben,

    I just got my results from 23andMe and used MTHFRSupport to process the data… How do I send them to you for a consultation? Do you look at only the methylation or all 42 pages?

    I am so excited to have some answers to help me with all of my chronic health issues that have come to a head over the last three years.

    Donna 🙂

  18. Julie May 15, 2015 at 2:50 am #

    Dr. Ben,
    I’m guessing that I might have a MTHFR issue because I get a b12 shot every month but my folate level came back low. Anyways, I’m mostly conserved about my son who is 22. He is suffering from depression, anxiety, numbness and panic attacks. I want him tested for MTHFR. Do the results go to the naturopath that I’ve briefly talked with? Also, should I just have my husband and myself tested instead of getting all 4 kids tested for MTHFR? My friend tested positive for one gene and she takes Thorne Methyl- guard daily. Says she has never felt better.
    Thank you for you time and knowledge, Julie

    • Aron May 23, 2015 at 8:51 am #

      Hi Julie – Your ND (depending on the State) or MD can run order this test for you. You can work with whoever has training in methylation issues. If you suspect that you and your husband are carriers of either MTHFR gene mutation, it is very likely that your children will have one or more. The benefits of screening would far outweigh the financial cost, especially since your son is suffering from depression, anxiety, numbness, and panic attacks–it could be a crucial piece of information that can help him get better. If your children know that they are susceptible to methylation dysfunction, you will be able to prevent future issues.

      The physician directory has doctors who have completed clinical methylation training: https://seekinghealth.org/physician-directory/

      -Dr. Aron

  19. Jacqui April 10, 2016 at 12:16 am #

    Hi, if we are expecting methylation problems, would a histamine test only not show this rather than going down the costly genetic testing? Thanks.

  20. daz June 4, 2016 at 8:46 am #

    regarding the accuracy of the MTHFR raw data from 23andme…
    this is a quote from the 23andme web site;

    “The raw data provided by 23andMe is an advanced view of all the uninterpreted raw genotype data, including data that is not used in 23andMe reports.
    This data has undergone a general quality review however only a subset of markers have been individually validated for accuracy.
    As such, the data from 23andMe’s Browse Raw Data feature is suitable only for research, educational, and informational use and not for medical or other use.”

    Quote source: customercare.23andme.com/hc/en-us/articles/212196868-Accessing-your-Raw-Data

    23andme do not currently do a Report for Methylation analysis &/or the MTHFR gene. And as far as i know, they have never done such a report.
    The 23andme reports go through more thorough checks for accuracy.

    So as it says in the 23andme quote above; “…only a subset of markers have been individually validated for accuracy. As such, the data from 23andMe’s Browse Raw Data feature is suitable only for research, educational, and informational use and not for medical or other use.”

    This is a bit concerning, as it would seem that we cannot trust the accuracy of the MTHFR raw data.

    Any comments anyone ? please. this has me a bit worried.

    Thanks

    & Thanks for the post Dr Lynch

  21. Betsy C August 7, 2016 at 10:16 pm #

    I hope someone can have insight into my situation. I put my raw data from 23andme through genetic genie and found for MTRR H595Y the result was “no call”, and the same for MTRR R415T, BHMT-04,AHCY-02, CBS N212N, and SHMT1 C1420T. I tried to find the rs’s in my promethiease report and couldn’t. Is this something that I can approach 23andme about, not giving me complete data?

  22. Erica October 31, 2016 at 11:11 pm #

    23andme has a $99 ancestory test and a $199 test. Which one do I need to purchase?
    https://www.23andme.com/compare-dna-tests/
    Confused,
    Erica

  23. Katie December 1, 2016 at 8:16 pm #

    I also am planning on doing the 23andme saliva test. Is the current $99 ancestory test provide enough info to look at SNPs and my raw data? Or do I need to purchase the $199 test?

  24. BJ January 8, 2017 at 2:35 pm #

    I am very puzzled. the report for my son from Genetic Genie came back +/+ for Mao-A R297R rs6323 yet Strategene showed -/- for the both variations T941G and 1410T>C. How do they/you decide which variation to check for? Or is this even the right question to ask. Seems very important to supplementation to know if he is + or not. thanks for your time!

    • BJ January 8, 2017 at 2:50 pm #

      I think I just figured it out. Genie states they looks at the wild type variation. Not sure what that means if you can clarify…Feels this is more clinically relevant. What are your thoughts on this? Thanks.

      • Dr Lynch January 28, 2017 at 6:06 am #

        The key is to understand the function of the SNP. It doesn’t really matter if — or ++. What matters is the change in function. StrateGene informs you how the SNP is altered and ways to modify its expression.

    • Dr Lynch January 28, 2017 at 5:54 am #

      StrateGene is based on ancestral allele. Other reporting companies determine which SNP is ‘bad’ or ‘good’. We don’t. It is important to note that they are different – not bad or good. The conventional way to report a variant is if it is different from the majority of the population – and that’s how we do it at StrateGene. Read the FAQ on StrateGene – we discuss it there.

  25. Helen January 26, 2017 at 1:04 pm #

    I think the 99 dollar one does exactly the same test and you can then download the raw data to use in another software tool. You pay the extra to get the (probably not very useful to people like us) health report. Sadly we have to pay for the health report here in the UK. You do need a certain confidence with computers (or find a teenager!) to work with other software tools to analyse this raw data, but there are various tools out there. Dr Lynch has also now produced an analysis tool which analyses relevant bits of the DNA data and presents it clearly. I’ve not used it myself, but I think it looks good. There is a charge for this, and that seems fair enough to me considering that a lot of research and work has gone into developing it. The guy has a family to feed…It’s called Stratagene. https://seekinghealth.org/product/strategene/ I’m not associated in any way with this product. I just think it looks useful. Being an engineer, not a biochemist, and having tried to make sense of some of the cheaper/free DNA analysis resources, I think Stratagene looks a very useful tool. Just trying to persuade my teens to take DNA test!

    To summarise, both 23andme options do the same test and give the same raw data. You can pay more for the report, but it’s not that useful to many with our kind of health issues. Getting your hands on the raw data is the important bit.

Leave a Reply

Read previous post:
Spring Conference Registration Open – Methylation and Clinical Nutrigenomics – Nearly Sold Out

On March 15 - 16, 2014, I will be presenting at Bastyr University "Methylation & Clinical Nutrigenomics Part 2: Latest...

Close