PhosphorusONE: A genetic test with real value for your health.
It’s time to leverage this powerful genomic technology to help improve lives.
Consumer genetics companies are growing in popularity, but their DNA tests are lacking in actionability.
In the past 5 years, genetic testing has become something of a household activity. Interest in ‘genetic testing’ on major search engines has more than doubled, and brands like AncestryDNA and 23andMe have launched national ad campaigns across print, digital and classical media channels.
However, the consumer genetic tests on the market today barely scratch the surface on how your genome might affect your health.
The human genome project cost nearly three billion dollars, and the amount of research that has come out of this project goes far beyond your ancestry or your ear wax. At Phosphorus we decided to take action and build a genetic test meant for your health.
What do we (scientists) currently understand about our genes and disease?
So far, scientists have identified just over 20,000 known genes - or instructions within your DNA for how to make the various proteins in your body. According to the Online Mendelian Inheritance in Man database (OMIM - the leading database tracking diseases related to genes) there are just over 5,000 genes with specific related diseases.
An optimistic view is that scientists currently understand what roughly 25% of the known genes in our body do. However, the reality is that this list only includes diseases caused by single genes, leaving out more complex, and more common, multifactorial diseases like heart disease, stroke, and many cancers. Also, many of the diseases on this list are quite rare, having only been seen in one patient or across very few families.
While we have a long way to go in further unraveling and understanding how the genes in our body contribute to disease, within the ~5,000 genes we understand so far, there are hundreds of diseases we can very accurately predict today.
A genetic test can help you intervene before the onset of a serious illness and live a healthier life.
We decided to build PhosphorusONE: A proactive genomic health screen.
Our scientists considered a number of important factors when selecting what genes to look at on the PhosphorusONE test:
1. How predictive is a gene of a given condition?
By this, we are referring to a concept known as penetrance in the genetics community. If an individual is found to have a mutation associated with a specific disease, what is the probability of actually getting that disease? We focused on conditions with significant and well-defined chances of onset.
2. What proportion of the condition is due to genetics versus environmental factors?
Genetics plays a role in almost everything involved in our health. However, often times it represents only a part of the picture. A disease like Cystic Fibrosis is nearly always caused by mutations in the CFTR gene. On the other end of the spectrum, coronary artery disease has strong genetic influences, but rather it is far more influenced by an individuals’ lifestyle and dietary habits. We focused on conditions where genetic factors generally play a large role in onset.
3. What action can be taken to improve an individual’s outcome as a result of the genetic test?
Lastly, and perhaps most importantly, we strongly believe that any genetic test offered through our service should be actionable. This means that some sort of intervention, medication, lifestyle change, or preventative reproductive option can be taken to help improve or otherwise prevent the associated condition.
What can PhosphorusONE tell me about my health?
The genes we sequence on the PhosphorusONE test are grouped into three main categories based on how they can be used to improve your health and well-being:
Genomic Health Reports: The Genomic Health Reports provided in PhosphorusONE covers the most up to date state of our understanding of severe genetic diseases. We test for 170 well-characterized genetic diseases that collectively impact nearly 4% of the population. The diseases tested span across clinical areas including: Cancers, Heart Disease, Infertility, Vision Loss, Neurology, and Metabolic Disorders.
Wellness Reports: While not life-threatening, an emerging body of genetic research is helping us to better understand how to optimize for our nutrition, exercise, and sleep habits. The PhosphorusONE test sequences 21 genes covering 16 different wellness reports that collectively may suggest an ideal diet, training regimen, or sleep behavior. Of course, research here is early, and genetics is likely only just a small factor in how well each individual’s habits evolve.
Pharmacogenetic Reports: Lastly, the PhosphorusONE test sequences genes that are directly responsible for the metabolic function of 190 different medications. Medications covered on the test include antidepressants, blood thinners, cancer therapies, and pain management drugs. Based on your individual genotype, this test may identify drugs which have lower activity for you, higher activity for you, or in rare cases, drugs that may result in severe or even deadly reactions. In conjunction with input from your physician, this information can be very powerful in managing certain illnesses.
To view a sample report from PhosphorusONE, click here.
To learn more about the genetics of the PhosphorusONE test, click here.
To order the PhosphorusONE test, click here.
The opinions expressed in this article are intended to bring to light recent scientific literature, technology advancements, and ongoing research as it pertains to genetic testing. They are the opinions of the author and do not necessarily represent the opinions of Phosphorus. This article is for informational purposes only, and is meant to induce conversation. To the extent that medical practitioners may provide input, or have written all or part of this article, this article is not, nor is it meant to be, a substitute for professional medical advice, diagnosis, or treatment.