MTHFR Support

The power of understanding your patient’s genetic susceptibility

Here’s what we know: the increased likelihood of developing a particular disease or condition, such as cancer, obesity, diabetes, heart disease, and mental illness, based on a person’s genetic makeup, is known as genetic susceptibility (also known as genetic predisposition). This susceptibility results from specific genetic variations, which are often inherited from a parent.

The risk of disease depends on factors besides the identified genetic change. For example, other genetic factors, or lifestyle and environmental factors, can combine with genetic variations to increase that risk. So even though a person’s genetic makeup cannot be altered, some changes can be made to reduce the risk of disease. These could be as simple as getting more exercise, eating a healthier diet, or having disease screenings on a more frequent basis. 

While we may know all this, understanding how our biochemical pathways are affected by our genes can be highly relevant to clinical practice. For example, imagine that we know someone cannot genetically carry Vitamin B12 to the cell or that someone is 70% less likely to make active folate – this in itself may present as depression, anxiety, fatigue, sleep disturbances, neurological dysfunction, detoxification issues and as practitioners we may give 5-HTP for the depression, passionflower and anxiolytics for the anxiety, CoQ10 for the fatigue and so on.. However, if we can give that person Vitamin B12 and folate, we are actually adressing the underlying cause and the body should then do what it needs to do without us having to treat any of the above symptoms. Understanding a patient’s susceptibility specifically, and embracing genetics in your practice generally, could be a game changer for you and your patients. I’m not the only one who believes this. Academics all over the world are uncovering exciting things as they research genetic information. 

Genetic information can tell us so much 

These are the words of John Bell, Nuffield professor of clinical medicine at Oxford, as they appear on the website of the National Centre for Biotechnology Information:

“Considering the current rapid acquisition of genetic information relating to common disease and the dramatic technological developments that continue to fuel the field, it would be surprising if most of the major genetic factors involved in human disease were not defined over the next 5-10 years. This information will form an important template for redefining disease, clarifying biological mechanisms responsible for disease, and developing new treatment for most disorders.”

Professor Bell’s words hint at one huge thing: a radical transformation in treatment protocols, based on gaining more genetic information on each patient. Genetic information, such as understanding a patient’s susceptibility to certain diseases, disorders or nutrient deficiencies, can allow practitioners to deliver personalised treatment rather than providing broad-based remedies that assume we’re all pretty much the same. 

For example, patients complaining of fatigue are often advised to take CoQ10 – coenzyme Q10. This is widely regarded as sound advice given that CoQ10 is a potent antioxidant and important in cellular energy production. Inadequate amounts of CoQ10 restrict the cells’ ability to divide and perform their functions, and this can lead to long-term fatigue, particularly in older patients. 

For all this, CoQ10 might only have a moderate therapeutic effect. The patient might report they feel a little better, but not 100%. Obviously, CoQ10, which is a commonly used supplement, has not addressed the root cause behind the ongoing fatigue. On the other hand, knowing a patient’s genetic makeup, and their susceptibility, might identify that Vitamin B12 would be more effective. Where CoQ10 might go only part of the way to helping a patient, Vitamin B12 could go to the very heart of the problem. We’ll only know these sorts of things by having the right genetic information.   

How genetics can improve your clinical outcomes, especially with anxiety and depression.

My practice focuses on resolving many key issues, including mental health. This is an issue of growing concern right around the world, and it’s one of the areas where I see the most adverse effects of methylation disturbances in my patients, and susceptibility to anxiety and depression. 

Many patients come to me because their prescribed antidepressants haven’t worked. I feel for them, and for the GP who has prescribed the medication. Afterall, a GP is usually the first person a patient turns to for treatment of any number of conditions, including anxiety and depression. The doctor’s diagnosis and ensuing prescription relies on a few key pieces of patient information: these include symptoms, medical history, and age. In fairness to the GP, this isn’t much to go on. Limited knowledge means restricted insight when prescribing medication, including antidepressants. I see this with my patients. They still struggle with their mental health, and they realise their medication is not going to help them.

I’d love practitioners, especially GPs, to have access to much more information so they could prescribe medication that will actually work. The knowledge I’m referring to is of the genetic kind. Knowing someone’s genetic profile and their susceptibility could make such a difference when treating any condition, including anxiety or depression.  This knowledge is at our fingertips, and pharmacogenomics is a huge component of that field of knowledge.  

Pharmacogenomics looks at how an individual’s genetic attributes will affect the way they’ll respond to therapeutic drugs. Imagine how that will change treatment protocols for you as a practitioner and transform the lives of your patients! By using highly detailed genetic information, rather than vague patient symptoms, you can make personalized treatment decisions. It’s a quantum leap. No wonder I am keen to see genetics introduced into more practices.  

How do you explain this to your patients without bamboozling them?

If the thought of introducing genetics into your practice is somewhat bewildering for you as a practitioner, imagine how it might feel for your patients! The accepted way of doing things is turned upside down. The methods of treatment you’ve always delivered no longer apply and patients want answers. The better you do it, the more comfortable your patients will feel with this new treatment regime. I think I can help. 

In 2020, I’m launching the MTHFR Support Genomics and Methylation Institute. This accreditation programme will train practitioners how to introduce genetics into clinical practice in an easy and uncomplicated fashion. The Institute will kick off with roadshow events around Australia, showing why and how we can introduce genetics to our practices. If this blog post has piqued your curiosity about genetics, and the powerful treatment potential it offers you and your patients, I invite you to one of the roadshow events to find out more.

Scroll to Top
Carolyn Ledowsky

Stay Connected!

Sign up for our monthly newsletter with current MTHFR research, health tips, recipes, special offers and news about upcoming events including Carolyn’s live Q&A.