Genetic Testing Popularity: An Interview
I received this email interview request some time ago.
In short, there is confusion between genetic conditions and genetic polymorphisms.
They are vastly different.
Here is the interview:
Your questions and my responses:
How long have I been testing patients for MTHFR?
– 2011 was when I first came across it in PubMed. Been testing and educating about it since (both general public and health professionals).
Did I learn about this in school?
– No. I wish I had. I graduated in 2007 and genetic testing then was just getting going. I learned about MTHFR when researching about bipolar disorders in PubMed.
Have you completed genetic counseling training or shadowed genetic specialists?
– No. Genetic counselors typically work with genes which cause immediate dysfunction – namely inherited diseases. I do not work with these genetic abnormalities. I work with genetic polymorphisms which are vastly different. Genetic polymorphisms may or may not cause dysfunction in an individual. They show susceptibility.
As a licensed naturopathic physician, I am very well versed in how to address genetic polymorphisms. Why? The vast amount of nutritional biochemistry we learned prepared me well for this. I also have a BS in Cell and Molecular Biology from the University of Washington.
Has testing increased over the past years?
– Absolutely. 23andMe has helped the growth this area as the cost barrier has reduced significantly. Now one can test their entire exome for less than $400 through Genos Research. Many more companies are on the rise including Arivale, a genetic testing and lifestyle startup in Seattle which received over $35 million in funding. They are utilizing nutritionists and doctors, not genetic counselors, to support those interested in their program. They, too, are looking at susceptibility rather than inherited diseases.
What percentage of my business involves genetic counseling?
– Zero. I don’t counsel patients or health professionals in the area of genetic counseling. This is a separate field. I don’t work in counseling patients or educating health professionals about how to deal with hemochromatosis, cystic fibrosis, down syndrome, Wilson’s disease or other such genetic abnormalities.
I work in the area of mild to moderate impact genetic polymorphisms. My educational programs focus in this area. I also have developed a report which uses raw data from 23andMe and Genos Research. This report is called StrateGene.
StrateGene’s information comes from PubMed and other reputable websites such as Genecards. We purposely do not identify high risk genes which require genetic counseling – such as BRCA, CFTR. You can see which genetic polymorphisms we evaluate on our website.
Have I shadowed genetic specialists?
– No. I don’t want to focus on this area. I want to focus on disease prevention and health promotion which is why I focus on clinically-relevant and actionable genetic polymorphisms. My passion is preventing disease, not treating it.
Genetic specialists should focus in the domain where they perform best – and that is inheritable genetic conditions. Health professionals who have knowledge in nutritional biochemistry are very well-suited towards working with patients having mild to moderate impact genetic polymorphisms.
I strongly disagree with the ACMG practice guidelines surrounding MTHFR. I understand that the ACMG is looking for a primary heritable disease caused by MTHFR. There isn’t one. I understand this point. However, they are missing the point. There is susceptibility. That is the major difference. If there is susceptibility to having an condition or disease, then I firmly believe the patient should be informed if they desire.
I disagree with their stance stating MTHFR should not be tested for in those with recurrent pregnancy loss, thrombophilia or at-risk family members. They also state that if one has MTHFR, the standard recommendation to take folic acid is sufficient. This is absolutely incorrect and makes absolutely zero sense.
If one has the MTHFR polymorphism, then why use a synthetic form of folate which has to be transformed by multiple upstream enzymes and then finally converted by the MTHFR enzyme to the body’s most active and plentiful form of folate, methyfolate? Over 80% of the folate in circulation is methylfolate. Folic acid does not go straight into methylfolate. Not at all. It’s difficult enzymatically.
The easiest solution is to recommend methylfolate and bypass any of these upstream genetic polymorphisms which may be present – and often are. MTHFD1, DHFR, MTHFR. Folic acid does not work for everyone. MTHFR is one reason why it does not. DHFR and MTHFD1 are other reasons why not. ACMG needs to change their position. Folate metabolism is well known and understood. There is no reason why they should not be recommending methylfolate to those with MTHFR polymorphisms. Methylfolate is readily available via leafy green vegetables and via inexpensive supplementation over the counter across the country.
This is why naturopathic physicians and health professionals who understand nutritional biochemistry should be working with patients having minor to moderate impact genetic polymorphisms.
Genetic counselors absolutely should work with patients having inheritable genetic conditions like cystic fibrosis, down syndrome and others. I also highly recommend that genetic counselors collaborate with integrative health professionals in order to support the patient as thoroughly as they deserve.
What percentage of patients have mutations that need to be treated?
– First of all, I don’t work with patients who have mutations. I educate health professionals and the general public about mild to moderate impact genetic polymorphisms. The term mutation is commonly used, and even I use it in my writings at times, as it is more understood than polymorphism. However, the proper term to use is polymorphism. I don’t work with patients anymore. I am busy researching and educating.
– I would say the majority of individuals, regardless if they have the MTHFR polymorphism or not, are able to benefit to some degree with lifestyle, dietary, environmental and nutritional interventions. We can all improve to some degree. It depends on the degree in which one wants to improve. I personally do not know of anyone in absolutely perfect health. Health is a moving target. The current medical model is one that focuses on sickness. This needs to change. The medical model should focus on disease prevention rather than waiting to treat it once it shows up. Utilizing medications like statins does not equate to preventative care in my opinion.
– Genetic polymorphisms cannot be bypassed or lessened in risk if they are not known via testing. If one wants to optimize their life and reduce risk, then having a comprehensive genetic polymorphism test done is recommended. Some people are not ready for genetic testing as it scares them. If this is the case, then they should not perform genetic testing until they are ready to do so.
Do I provide treatments for patients having genetic mutations?
– No. I provide information about MTHFR and other well-known genetic polymorphisms. This information is available at www.MTHFR.net, www.drbenlynch.com and also on our genetic report which is available at www.strategene.org
If one has a mild to moderate impact genetic polymorphism, there is much that can be done by nutrition, lifestyle, diet and the environment. This is why I thoroughly enjoy working with mild to moderate impact genetic polymorphisms. I can make a massive difference in someone’s life with little intervention. A simple recommendation to avoid folic acid, eat leafy green vegetables and use methylfolate has helped thousands across the world. Every day I am thankful for the research done by others which allows me to educate and bring forth this transformative information to the public and the health professionals.
MTHFR is significant. According to the CDC, their Genopedia database has over 638 disease terms associated with MTHFR
Granted, one is not destined to having any of these disease or conditions if they have the MTHFR polymorphism. Yet, if they are aware they have the MTHFR polymorphism, then perhaps they will make lifestyle and nutritional changes which will transform their life significantly. I’ve seen it countless times and will continue to do so. It’s a joy hearing how health professionals have worked with these individuals and transformed them.
Should you have further questions, I’m happy to help.
Again, I understand your position may be to turn this into something negative about me, naturopathic physicians and genetic testing. If you do, that is unfortunate. Many need to access this information and you could be a vehicle allowing this to happen.
Regardless of how this article turns out, I will continue working hard to provide unbiased and scientifically accurate information to those who demand it.
That is the whole world.
How has genetic testing helped you?
Or has it? Has it only increased confusion?
Share your story below.