Published on Feb. 21, 2017
Get to know more about Toolbox Genomics and how we can help you.
Q: What gave you the idea for Toolbox Genomics?
A: My colleague—Elvina Hewitt—and I have been practicing health care in the Bay Area for a combined 19 years. Our friends and family and colleagues would often share their DNA result and follow up with the question(s), “Now what do I do?” or “How do I make sense of this?” In our effort to answer their questions, we came up with the idea for ToolBox Genomics.
When it comes to genetic testing, information alone does not equal power.
Direct-to-consumer genetic testing generates volumes of information about a person’s genetic profile but many consumers are left with more questions. We know many consumers want to take the next step with this information and start making changes to their lifestyle to fit their “genestyle.”
Q: What are your hopes for Toolbox?
A: Our goal is to empower consumers. We want to deliver on the promise of direct-to-consumer genetic tests by providing our customers with personalized and actionable recommendations to help them build their healthiest life.
Q: It seems like there’s some pretty complex technology behind the scenes. Can you give a basic explanation of how it works?
We examine the role Single Nucleotide Polymorphisms (SNPs) have on your health. A SNP is an individual difference in a single DNA building block (called nucleotide). SNPs are the most common type of genetic variation among people. Many SNPs appeared in critical parts of the human genome (genes, regulatory regions, etc.) and can alter gene expression and abilities of proteins to perform specific functions. Your overall SNP profile together with lifestyle and clinical history define an individual phenotype: how a person looks, his/her health status, and risk factors. A single difference in one DNA building block can affect many genes by turning the expression (the gene’s activity) on and off. It can also affect our ability to utilize or breakdown various nutrients in our bodies by altering functions and expression of dozens of enzymes.
There are over 10 million known SNPs in the human genome defining individual differences so every person has a unique genotype. Individual SNPs compositions are making us different in many ways and make us have seemingly healthy, productive lives. Some SNPs however, are known to be associated to risk factors including different types of cancers, heart diseases, allergies as well as individual’s response to certain drugs, susceptibility to the environmental factors such as toxins, etc.
Our vision is to help people understand how different aspects of their diet and lifestyle can be adjusted to their individual SNPs profiles. These adjustments can help decrease the negative effects of individual genetic risk factors and increase the quality of life.
Q: How reliable are the results and recommendations you provide?
A: The results of a person’s genotype comes from 23andMe. 23andMe has very high quality standards and their raw data is extremely accurate. For example, the grand majority of the SNPs in their assay have a call rate greater than or equal to 98%. This means the 98% of an individual's variants will contain accurate data.
TBG uses a multi-layer method of ensuring the recommendations we provide are reliable. We ensured that our studies could reproduce the findings of a hallmark or discovery paper. Additionally, we investigate the role ethnicity and gender play in affecting a particular SNP and therefore the phenotype of the individual. Finally, we utilize the FDA’s guidelines to create internal grading rubrics to ensure our paper selection criteria matches the FDA’s guidelines.
Q: Some people have said that their genetic test shows they are at an increased risk for certain conditions, but they have never been diagnosed with the condition. How do you explain this phenomenon?
As we mentioned earlier, the expression of your phenotype is an interaction of your genes and your lifestyle. For example, we had some people who had several genes for high blood pressure, but their blood pressure has always been low to normal. While these people carry the genes, their lifestyle or other gene interactions did not “turn on” the genes. We recommend that people do periodic “SNP check-ups” with their healthcare practitioner to see how their gene expression has changed or stay the same: this would include measuring BMI, blood pressure, various lab tests, blood pressure and EKG.
Q: How do you determine the best recommendations for your customers?
A: The science is evolving in this area where our genetics meet our lifestyle choices—like diet and exercise. We have reviewed more than 8500 studies and rely on 400+ studies to make our current recommendations. Everything we recommend is based on science and reviewed by experts in health care, nutrition and genetics. Our recommendations suggest specific ways to improve health through diet, exercise, weight management and other lifestyle factors based on the best available science today—and our customers can stay in touch with us to receive updates on science related to their SNP profile.