Randy Scott, Invitae Corporation: Interview Q&A

Q: Invitae wants to be the Amazon of genetic testing. What does that exactly mean and what does Invitae do that is different from other companies to achieve this?

A: Invitae is proactively driving down the cost of genetic testing in order to make it more affordable and accessible for everyone. There are roughly 3-4,000 genetic disorders for which we know specific genes and mutations that cause disease. Our mission is to aggregate all of the world’s genetic tests into a single low cost platform with high quality and rapid turn-around time so we can provide broad access to even rare genetic tests at a price the healthcare system can afford – much like Amazon initially provided online access to rare books for one low price. Every family is carrying genetic variation within their genomes that will impact their family’s health and susceptibility to disease and treatment over the course of their life. By driving down prices we hope to increase access to genetic information and make it more available for mainstream medical practice in a medically-responsible way. Invitae has built a state-of-the-art laboratory for next-gen DNA sequencing with scaleable medical interpretation that provides a unique cost and quality advantage for eventually providing low cost genetic information to millions of people.

Q: Cost is a huge factor when it comes to genetic testing and a large population still can’t afford it. What needs to happen to further drive the cost down to make genetic testing more accessible? What are some of the major hurdles that need to be overcome?

A: The major technology hurdles are largely overcome already and costs will continue to drop rapidly for many years to come. As the technology improves the cost burden is rapidly shifting to medical interpretation. At Invitae we’ve focused on building a high-powered medical interpretation platform that will allow us to scale as volumes increase. Increasing volumes in turn create an economy of scale that also drives down prices reinforcing the “flywheel” effect. Historically very few people could afford genetic testing for rare diseases but now that the costs are coming down we believe genetic information will become an increasingly routine part of medical care.

Q: Invitae recently contributed over 10,000 clinical variants to the community by adding them to ClinVar. Why is it important to share genetic data to improve genomic healthcare?

A: We now know that the amount of genetic variation in the human population is vastly larger than first thought. As a result, variant interpretation can be very complex as we are constantly identifying new variants that may or may not cause disease. Sharing variants in the public domain along with the criteria for identifying whether the variant is pathogenic or not is simply good medical practice and will help accelerate the adoption of genetic information more rapidly and improve the standard of care for patients.

Q: What are some of the barriers that still exist for successful clinical data sharing? How can we remove them? Do you feel potential compromises in the area of patient privacy might be the biggest risk and concern when it comes to data sharing efforts?

A: The momentum for data sharing is enormous and growing within the medical community. Single variants can be shared in an anonymous fashion and the value to peer review is great for the laboratories and physicians in order to provide the best interpretation and outcomes for patients. Essentially we are seeing the beginning of the “internet of genetics”. It will not be owned by any one company but will be a common platform and language that allows rapid growth in genetic knowledge just like the internet made much of the world’s information available in real time.

Q: Is there anything else you would like to add and share with the readership?

A: We are at the beginning of a major inflection point in medicine as we move from a “treat first” mentality based on phenotypic expression to a better understanding of the underlying molecular basis for disease and the individual genetic variation within disease and treatment response. In the 21st century, “genome-centric” medical care will be driven by network effects that accelerate our understanding and treatment of disease by sharing data and results openly.