Standardised healthcare is truely a thing of the past. Genomics and advanced biochemistry testing have empowered us to identify our unique functioning; allowing us to achieve optimal health in our lifetime. Since the finalization of The Human Genome Project in 2003, this area of science has grown exponentially, accumulating in you being able to gain access to your unique genetic variations. No more guesswork and much more control. This is incredible!
We believe that having access to this information is one of the most powerful tools for achieving longevity, preventing lifestyle-related chronic diseases and enjoying a long health span. But it can be confusing as to where you should start and what type of genomic information would provide you with the most benefit.
DNA is organised into approximately 20,000 genes that are packed into chromosomes. Each of us usually has 23 pairs of chromosomes or a total of 46 chromosomes. This entire collection of DNA is called your genome. Researchers often use a technology called sequencing to look at your DNA. Sequencing “reads” each letter of the gene's codon and finds changes (also called “variations” or “misspellings”) in your genes that may cause disease or affect your risk for a disease. Sequencing of a person’s entire genetic code is called whole genome sequencing (WGS). Surprisingly, most of your genome does not contain genes. There are many sections of DNA that do not contain any genes.
As a result of this, researchers and labs will sequence only the parts of the genome that contain genes. These parts are called the “exome.” The exome makes up about 1% of the genome and gives the instructions to make all the proteins in your body. Sometimes the fastest way to look for changes that may cause disease is to look only at the exome. This is called whole exome sequencing (WES). This is a great test to do when someone has a complexed, difficult to diagnose disease or illness. The problem with this type of testing is that the research hasn't quite caught up with the technology. In other words, you may find that once you receive your exome report, there may be gaps in either significance of a result and/or the access to research and practitioners who can interpret your results. The upside is that as research on specific genes is released, you'll be able to go back and check your exome genotype against this data.
Interpreting variations in “unknown” genes is challenging and is likely to result in an extended list of variants of unknown significance within a report. Also, it is possible to exclude the capture and sequencing of particular genes; for example, severe adult-onset disease genes in pediatric patients. This is a great option for parents and does help to answer some of the more difficult ethical questions when it comes to the genome and exome testing. It's also important to note that full genomic and exome testing comes with mandatory pre and post-genetic counseling.
So, even though you can order full exome sequencing online, you may find that ordering DNA panels provides with you less genetic information but a more in-depth report on those genes and therefore empowering you to make more concrete, definitive health choices.
Genes tested in these type of DNA panels are very well researched and have extensive clinical findings, making it easy for you and your practitioner to use when personalising your health choices. The price of these panels is also affordable for most people making it attractive to include. The key advantages of ordering a smaller, selective panel are cost-effectiveness and the ability to restrict the analysis to clinically relevant genes.
Even though you are able to order tests for individual genes or SNPs, you may find that you are not getting sufficient insight into the entire genotype for a specific biological area as often these pathways are polygenic. The only time this may be beneficial is when trying to determine Ceoliac disease for example.
Certain genetic variations or misspelling can increase your risk for lifestyle-related, chronic disease. Knowing what your carrier status is for specific, well-researched genes will help you to look upstream at the root causes of some of your health symptoms and/or predispositions. Even though individual genes encode specific pathways and can help you to gain these insights, we also know that in most cases genes work together with other genes in a polygenic relationship that enables you to identify your genotype for a specific biological function such as inflammation, lipid metabolism, strength, detox, methylation, oxidative stress, metabolism, thyroid function, and methylation.
We find DNA testing an essential tool in assisting clients to prevent chronic disease and to achieve optimal wellness. Daily we witness the power of "living in the know" and watch with amazement how people take responsibility for their health choices once they know where to focus.
The role of pairing DNA tests with real-time biochemistry tests
In many cases, you may wish to send your money on a DNA panel paired with a biochemistry test instead of purchasing a full exome sequencing test. This is particularly a good idea when you are suffering from a very specific lifestyle-related chronic disease and wish to determine 1) your genetic predisposition and 2) whether you are presenting with a related biochemical imbalance. This type of testing pairing enables you to determine whether you are manifesting with symptoms related to your unique genetic variations and predispositions. This information will help you gauge whether your current choices are putting pressure on your genetic pathways or not.
A quick snapshot
When helping people to decide which test is best for them, I found this matrix really useful:
|TYPE OF TEST||PROS||CONS||ORDER ONLINE|
|SNP | Gene||
||MAP MY GENOME|
||MAP MY GENOME|
|DNA & Biochemistry pairing||
By taking our online quiz, WHICH DNA TEST IS RIGHT FOR ME? we'll be able to interrogate your answers and provide you with a recommendation of which of the testing option is best for you.
Finding the right practitioner or coach to help you weave together your results into daily actions is where we come in. You can book a feedback session online here:
Having access and choice when it comes to ordering these types of tests is truly incredible. There is something for everyone to get started. DNA testing allows you to have a more intimate relationship with yourself. And I have found, that my clients feel more motivated to honor their unique bodies, and empowered to make better health choices.