“We envision a world where every child and every patient who requires a diagnosis receives one, in time for it to make a difference.”

Reid Robison, MD
CEO of Tute Genomics

Link to Tute Genomics: No Child Left Undiagnosed

LAYING THE FOUNDATION FOR PRECISION MEDICINE

“The scientific man does not aim at an immediate result. He does not expect that his advanced ideas will be readily taken up. His work is like that of a planter – for the future. His duty is to lay the foundation for those who are to come, and point the way.”
NIKOLA TESLA

 

On January 20th, 2015 the term ‘precision medicine’ entered the lexicon of the American public when President Barack Obama, in his State of the Union speech, announced the launching of a bold new Precision Medicine Initiative, one that will do away with the “one-size- fits-all” approach to diagnosing and treating disease.

Precision medicine, at least conceptually, has actually been around for a long time, its roots dating back several decades. The term itself has been an industry buzzword since the early 2000’s, though until recently had more commonly been referred to as ‘personalized medicine.’ The name change reflects the need for rebranding after years of hype and promise that have yet to materialize. Have there been successes? Undoubtedly. Though sadly, stories such as that of Gina Szajnuk’s are far too common.

Gina Szajnuk, Co-founder and Executive Director of the Rare & Undiagnosed Network, is the mother of three children, whom along with their mother share a rare genetic condition characterized as autonomic neuropathy, which has yet to be fully understood to the point that a precision treatment can be administered. I had the pleasure of meeting Gina at the 2015 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting when she brought to our exhibit booth a hard drive containing five whole exome sequences – those of herself, her husband, and her three children – in hopes of ending her family’s diagnostic odyssey.

Gina’s journey is a familiar one for parents of children with a rare disease as I can attest through my family’s own diagnostic odyssey with our son: countless doctors visits spanning the continent trying to find that single specialist who can help; years battling with insurance execs who routinely deny coverage for the latest medical advances; tubs of medical records physically carried from hospital to hospital for staff to arduously scan into a local electronic medical record (EMR) system that is blind to the fact that these same documents have undergone the same treatment at every hospital visited prior. And there she was in our booth, with gigabytes of genomic sequence data in her hands ready to partake in the analysis process only a relatively small number of highly trained specialists in the world are qualified to do.

Gina and her family are not alone. They represent the 1 in 10 Americans who have one of 7,000 known rare diseases, 75% of which are undiagnosed, and half of which are children for whom there is no treatment.

But Gina is not content with representing a statistic. She is a parental crusader, seeking access to data that’s seldom shared and empowerment that many of us aspire to but fail to attain. The reality that Gina was able to acquire whole exome sequence data in an industry crippled by privacy concerns, attests to her amazing fortitude. She is not waiting for a broken healthcare system to be fixed by a bold new initiative. She is taking matters into her own hands, literally. And we at Tute Genomics are here to help.

Starting with a focus on pediatrics where our roots and relationships run deepest, and where we feel we can have the biggest and most immediate impact on actual patients’ lives, we have begun launching our own bold new precision medicine initiatives that go far beyond technology. Following is an account of the ideals we at Tute Genomics aspire to, along with the initiatives we are currently launching that represent our mission to lay the foundation that will power precision medicine, and to point the way in genome diagnostics.

I assure you, as a customer, employee, investor, partner, or champion, you can be confident that your investment in Tute Genomics and our mission is an investment in the future of medicine… an investment in cosmic shifts of diagnostic rates, turnaround times, and lower healthcare costs…an investment in a child’s life that hangs in the balance.

(M = EC2): RELATIVE THEORY FOR POWERING THE PRECISION MEDICINE MOVEMENT

“Nothing happens until something moves.”
ALBERT EINSTEIN

In order for precision medicine to succeed, it’s going to take a lot more than a speech and a $215 million investment by the United States government. It’s going to take a monumental genomics movement catalyzed by a paradigm shift in the way all of us think about and participate in the practice of medicine.

I summarize this effort with the following equation, which serves as our roadmap for powering the precision medicine movement:

(M = EC2)
Movement = Empowerment * Community * Communication

Think about it. For precision medicine to be fully realized we must ensure that genomics and other technologies achieve mass adoption. We must ignite a cause that overcomes inertia created by data silos, intellectual property laws that incentivize discoveries to be concealed for years, and a legal and regulatory environment that stifles competition, limits access to cutting-edge innovations and increases costs. We must shift the gravitational forces of our current scientific and medical universe from the few to the many, a shift that can only be achieved by accelerating the speed of enlightenment enabled by technology that empowers a new generation of scientific sleuths, leverages the power of community to expand access to needed expertise, and breaks down communication barriers between all the stakeholders of a patient’s care. In the next few sections, we’ll dive deeper into these three concepts.

GENOMICS FOR THE REST OF US

“Technology is nothing. What’s important is that you have a faith in people, that they’re basically good and smart, and if you give them the tools they’ll do wonderful things with them.”
STEVE JOBS

Just as Jobs had the foresight to develop the Macintosh and every groundbreaking Apple product thereafter putting computer technology in the hands of the masses and empowering them to do wonderful things in ways that shape every facet of our world today, we at Tute Genomics have the vision of putting genomic technology in the hands of every physician, clinical specialist, medical geneticist, genetic counselor, and even patient by building a precision medicine solution that makes genomic data accessible and affordable to everyone.

We understand that it’s going to take more than just a new device to achieve this goal and that such a solution can’t be built overnight. But we have already begun laying a solid foundation as outlined below by delivering an innovative platform and supporting it through an entire ecosystem of world-class partners.

1. Empowerment Platform

Core to our empowerment strategy is our precision medicine platform that’s transforming the entire user experience. Powered by affordable and scalable cloud technology from Amazon and Google, our platform is accessed through a clinically focused user-interface that drives a technology stack from reads-to-report and beyond.

Anyone who has access to genomic data can instantly upload their data and begin finding answers. The minimum investment to start using our platform is $0, as we encourage users to test drive our technology with gene panels, exomes or genomes. Our pricing beyond the initial free samples is also very affordable as we have packages that scale from pay-as-you-go options for low volume labs to enterprise subscriptions that can reduce per sample costs to less than $20.

2. Genetic Search Engine
Our technology, inspired by ANNOVAR, the most widely used genome annotation software and invented by Tute Genomics co-founder Dr. Kai Wang, cross-references genomic variants against 200-plus data sources and counting. These data points or annotations are the key to interpreting the effects of genomic variants, and the more information one has access to the more informed the interpretation will be.

While other software companies are scaling back or completely eliminating programs that allow free access to annotations, we are expanding ours by allowing an unlimited number of samples to be annotated free of charge. It takes more than free data to make annotation accessible. Therefore we partnered with Google Genomics and donated 8.5 billion variant annotationsthat anyone can access, anytime with unparalleled speed using Google’s search technology. Our data combined with Google’s search technology is what makes for a truly accessible genetic search engine for everyone.

3. Don’t Miss a Thing
Our partnership with Google is just the beginning. We are actively building partnerships with hospitals, genetic specialists, sequencing service providers, LIMS and EMR vendors, and diagnostic companies to deliver a true end-to-end system, one that’s easy to set up, secure, highly automated and guarantees the privacy of patient data. Our collaborations will ensure our customers can always get access to raw data if desired so they can expand their know-how and reanalyze patient data to improve initial diagnoses or alert patients when new information is available. Perhaps most importantly, we are integrating quality control functionality across our platform and throughout our partner channels to make sure the question, “Did I miss anything?” can be always be answered by tracing analyses back to the source if necessary.

As a testament to how empowering our platform has been, despite publicly launching just late last year, we already have 800 users who have processed nearly 15,000 samples on our platform! This is only the beginning.

IT TAKES A VILLAGE

“The best interest of the patient is the only interest to be considered, and in order that the sick may have the benefit of advancing knowledge, union of forces is necessary.”
WILLIAM J. MAYO

Mayo Clinic is a model organization for how to treat a patient. They do it through unwavering patient focus, logistical precision and coordinated care that unites an expansive team of medical experts, researchers, patient advocates, and social facilitators, all whom communicate with one another, are apprised of the patient’s latest situation, possess different though complimentary skillsets, and diagnose and treat as a team using a holistic approach. The whole at Mayo Clinic is definitely greater than the sum of its parts.

Unfortunately, the status quo in our healthcare system is quite different from Mayo Clinic’s model, which is the reason why Gina – as alluded to earlier – has to carry tubs of medical records to multiple hospitals that were generated by several different unconnected specialists, and is having to take matters into her own hands to obtain a diagnosis that the various “parts” have failed to provide her.

Gina is more fortunate than many. Time is of the essence in many cases, especially in pediatrics where rare disease is responsible for 35% of infant deaths and where 30% of children with a rare disease won’t live past the age of 4. Astonishingly, despite these alarming statistics, genome-wide sequencing has barely made a dimple in pediatrics, including newborn screening and neonatal intensive care units across the US where it can have the greatest effect.

The ecosystem we are building at Tute Genomics uses Mayo Clinic’s model as inspiration, not the status quo, and it goes far beyond the utility of our platform.

Starting with pediatrics we are already connecting a community of specialists who can assist in the diagnosis and treatment of disease for those cases our platform alone can’t immediately resolve. We are building functionality into our platform such as ‘Expert Review’ that enables our customers to leverage internal and external human resources to assist in the interpretation of variants of unknown significance. We are partnering with advocacy groups such asAware of Angels, Rare & Undiagnosed Network, Rare Genomics Institute, andUtah Foundation for Biomedical Research, to generate awareness of the latest advances in genetic technology. To accelerate the speed at which medical experts can be united in diagnostic efforts and genomic variants understood, we are beginning to harness the power of cloud technology to drive inter- active review of genomic variants through crowdsourcing and social networking.

Just as Mayo Clinic unites its staff around the patient to accelerate diagnosis, improve effectiveness of treatment, and reduce costs, we aim to unite the world in a considerably greater effort with considerably greater results.

A FAILURE SUCCESS TO COMMUNICATE

“I’m a great believer that any tool that enhances communication has profound effects in terms of how people can learn from each other, and how they can achieve the kind of freedoms that they’re interested in.”
BILL GATES

Despite our aspirations to build a platform that is so accessible and affordable anyone can be empowered to use it, and a community that unites together in a concerted effort to accelerate patient care, the biggest challenge will undoubtedly be communication.

Let’s face it. Genomics, next-generation sequencing, medicine: these are all extraordinarily complex disciplines in a field that is evolving so fast it’s impossible for our university systems to keep pace. Further, NIH budget cuts have dramatically reduced travel budgets for conferences where much of the learning takes place. The result is a vast shortage of expertise across the industry, including within bioinformatics, medical genetics, genetic counseling, clinical specialties and the like, all critical pieces to the precision medicine puzzle. Unless education takes place, it will be impossible for these various disciplines to effectively communicate with and learn from one another, all of which is further exacerbated when trying to include patients and their primary physicians into the mix.

Now, I’d be foolish to say Tute Genomics can be solely responsible for the education and enhanced communication of an entire field, but I am confident that we’ll play a big role. And I absolutely believe we have the leadership team and partnerships to pull it off. We are privileged to count among our leadership team the following crusaders:

President, Kai Wang, PhD, a world-renowned computational biologist who earned his stripes at Children’s Hospital of Philadelphia, the #1 rated children’s hospital in the US. Among his many other accomplish- ments, Dr. Wang is creator of ANNOVAR, the most widely used genome annotation software, which has been downloaded over 30,000 times, and cited over 1,000 times. Dr. Wang himself has over 100 scientific publications to date with over 10,000 citations. Further, Dr. Wang co-founded the Institute for Genomic Medicine, now a division of the Utah Foundation for Biomedical Research where he serves as a board member, and is involved heavily with the Rare & Undiagnosed Network.

Chief Executive Officer, Reid Robison, MD, MBA, a physician, geneticist, and bioinformaticist, as well as a clinical instructor by training, Dr. Robison has lead or co-lead molecular diagnostic labs and large neurodevelopment research studies at the University of Utah, a renowned institution in genetics. Dr. Robison is also a serial entrepreneur and connector, having founded or co-founded numerous health endeavors, including the Utah Foundation for Biomedical research, and serves on the boards of many non-profit advocacy groups.

Chief Scientific Officer, David Mittelman, PhD, who, in addition to founding his own company, creating industry leading genetics tools, and developing clinical and direct-to-consumer genetic tests, has actively participated in several of the highest profile scientific consortiums of the 21st century, including the Human Genome Project while at UT Southwestern Medical Center and the 1000 Genomes Project while at Baylor College of Medicine and Virginia Tech. Dr. Mittelman has also been the recipient of the prestigious Ruth L. Kirschstein National Research Service Award and ran an NIH-funded research program as an associate professor before becoming an entrepreneur.

Vice President of Sales, Andy Olson, MBA, who led the commercialization efforts at Signature Genomics, the first company to introduce the use of microarray technology to the field of clinical cytogenetics.

 

Vice President of Marketing, Josh Forsythe, who for over a decade has lead educational webinar and workshop programs in genetics and genomics that have been attended by over 15,000 people worldwide.

 

To support the educational leadership efforts of our internal team, we have a remarkable network of scientific advisors and clinical collaborators, several who are considered luminaries in the field. Further, we are supported by our partnership with Google and our investor Tencent, two of the world’s largest players in the Internet, the most prolific communication technology on the planet.

Together through our team, our partnerships, and our technologies, we look forward to doing our part educating a burgeoning field, dramatically enhancing communication and uniting all the stakeholders responsible for a patient’s care.

JOIN THE RANKS

“Is it not true that for every person the course of life is along the line of least resistance, and that in this the movement of humanity is like the movement of material bodies?”
JOHN WILLIAM DRAPER

We have monumental goals at Tute Genomics. We envision a world where every child and every patient who requires an immediate diagnosis receives one, in time for it to make a difference. To accomplish our goals will require a monumental movement that empowers the masses and shakes the foundations of modern medicine. There is no path of least resistance, and we are just a single entity. But we are ready for the challenge.

We invite you to join us in an effort to make precision medicine a reality!