Medium By Robin Thurston
“Authenticity is when you say and do the things you actually believe.” — Simon Sinek
After seeing this quote earlier this week, and having launched our first product recently with National Geographic, I felt compelled to write down some thoughts on why this quote is so true when building a company your team and customers can truly invest in emotionally. It isn’t easy to find a mission that not only you believe in but one that others will feel just as strongly about. But when you do, it’s unique opportunity to create something customers will love that’s rooted in shared values and, most importantly, actions fueled by those values.
What is the Helix mission? To empower every person to improve their life through DNA. We believe in a world where everyone can discover the profound benefits in their biological information, and that the powers we tap into through that information can help all of humanity lead better lives. I joined Helix because of the opportunity to be part of achieving a goal that I believe can fundamentally change the world, and work with a team uniquely capable of doing it.
Over the past six months, I’ve been reading a stream of research papers that illustrate how accessible genomic sequencing is transforming our knowledge of genetic traits, our ability to treat according to genetic diagnosis, and challenge the status quo on how individuals benefit from genetics. Here are three groundbreaking examples from just the past six months:
“The New Sequencing Diseases” — In this article, a 15-month-old named Addyson was taken off formula after becoming dangerously ill. Her Doctor decided to sequence her DNA which revealed she had two different mutations in DGAT1, a gene that produces an enzyme required for fat absorption in the gut. Amazingly, they changed her to a fat free diet, and she recovered quickly. Original articles here:
The New Sequencing Diseases // GenomeWeb
DNA Sequencing Saves Young Racine Girl // Milwaukee Journal Sentinel
“Exome Sequencing Helps Uncover New Congenital Heart Defect Disorders in Children” — In this article, the researchers found differences in genetic architecture between the two forms of the disease: syndromic and non-syndromic congenital heart defects. They also identified three genes linked to rare syndromic CHD disorders. Original articles here:
Exome Sequencing Helps Uncover New Congenital Heart Defect Disorders in Children // GenomeWeb
“Exome Data From 60K-Person Cohort Yields Novel Rare Variants” — This large dataset (ExAC and now GnomAD) has not only enabled researchers to directly observe mutational recurrence in the dataset, but also help labs characterize variants identified during clinical genomic sequencing. This team also discovered 3,200 genes that had fewer loss-of-function or missense mutations than would be expected suggesting that these are likely disease-causing variants that are rare or absent in the population because of their detrimental effect on human health. The paper showcases the value of large de-identified datasets for understanding human disease. Original articles here:
Exome Data From 60K-Person Cohort Yields Novel Rare Variants // GenomeWeb
Analysis of Protein-Coding Genetic Variation in 60,706 Humans // Nature Genetics
The sheer volume of new discoveries each month illustrates the velocity of research is increasing. But why now? There are a number of factors driving the rapid change in the market such as the cost to sequence an individual’s genome, the number of validated variants that have been identified, and the ability to process and store the data at low cost.
Just 10 years ago, it cost over $100,000 to sequence an individual’s genome; today it can be done for under $1,000 and in the near future it could cost just $100. The aggregation of just over 60,000 exomes in a single database has already given the world meaningful new insights. But what if we had one million or ten million exomes or genomes?
The acceleration brought on by these factors, particularly cost and benefit, I believe, will help drive individual adoption of genome sequencing. However, we believe sequencing is just the starting point. Products that bring context to genome information, and make it relevant to everyday life will be necessary to ensure mass market acceptance. Easy integration of genetic information with products consumers already use today will also be critical to drive the next stage of adoption.
Since joining Helix, I’ve found myself devouring research, following genetic scientists, and exploring ways to share our vision and mission with the world. Our understanding of genetics is expanding rapidly, but my hope for Helix and our team is that we can help accelerate this by allowing people to discover the real value in their biological information through our great partnerships and products, and as the first true end-to-end consumer genetics solution in the market. We come to work every day with the belief DNA holds the power to help all of humanity lead better lives. And we’re on a mission to do just that.
Photo Credit: Helix