By Dr. Karen Ring, Big3Bio Events Correspondent
Do you ever wonder when individual genetic testing will become routine? The answer might be sooner than you think.
Randy Scott, former CEO of Genomic Health, is the founder of Invitae, a San Francisco-based diagnostic company whose mission is to improve the quality of patient healthcare by providing more affordable and available genetic screening. At a recent BioScience Forum (www.biosf.org) event, “Bringing Comprehensive Genetic Testing into Routine Medical Practice,” Scott detailed how Invitae plans to develop a single, low cost genetic test that would screen all genes in the human genome for disease-causing mutations.
Current genetic tests are burdened by high prices and limited scope. Single gene tests are commonly used such as tests for the BRCA1 and BRCA2 genetic mutations that cause breast and ovarian cancer and typically range from $300 to $3,000. However, the efficiency of large-scale genome sequencing is rapidly evolving, which will reduce costs and allow for screening of multi-gene families at one time.
“This accelerating technology is what drives our vision at Invitae. Genetics is leaving the age of scarce information and entering an age of abundance,” said Scott. “With lower costs and an IT infrastructure to share genetic information, we can solve how genetics impacts disease and drive clinical utility.”
Invitae launched its first product in November of 2013: A customized screening panel covering 218 genes implicated in diseases such as cancer, diabetes, and heart disease, at a price of $1,500. InVitae also provides specialized hereditary disease panels that cover breast, ovarian, endometrial, and colon cancers as well as neurological, hematological, and rare disorders. Results are received within three weeks, and genetic experts analyze the data and provide important clinical interpretation to patients.
Invitae’s hereditary disease panels can identify predispositions to complex diseases that are based on mutations in multiple genes. Scott gave compelling facts that highlight the need for multi-gene family screens: “2% of the human population has an actionable genetic disorder, 5-10% has an inherited genetic condition, and 100% has multiple genetic conditions and genetic variations that make them respond differently to different drugs.”
By identifying these problems early on, clinicians can implement preventative treatments in patients and can identify which patients respond more favorably to specific drugs. Furthermore, genetic screening of newborn children could prevent debilitating and complex disorders that manifest later in life. Diseases such as hemochromatosis, where the body absorbs too much iron resulting in heart and liver problems, are not usually detected early on but can cause severe and irreversible consequences later in life if left undiagnosed.
Scott noted that he envisions that Invitae will provide a single test covering all 3,000 known Mendelian, or genetically inherited, disorders for $4,500, by 2015. He hopes that with continued advances in sequencing technologies, this price will eventually go down to $1,500. Along with a full Mendeliome screen, Invitae will provide the infrastructure for handling the large amounts of genetic data produced from patient screens. An arsenal of medical and genetic counselors will analyze and interpret data and will also scour published scientific data to find out which genes and genetic variants are actually important.
All genetic information will be publicly accessible in the CLINVITAE database, which will serve as a network of genetic variation for patients and physicians. Scott commented on the societal impact of CLINVITAE, “the knowledge of millions of mutations across millions of people will allow for large-scale clinical interpretation and will drive clinical utility.” He also pointed out that the more people whose Mendeliomes are sequenced, the more easily “rare diseases” will be discovered.
Scott believes that genome management will be the future of medicine and that, “Invitae will bring genome management to medical practice to improve the quality of healthcare for all.” He likened Invitae to “the Amazon of genetic testing” and their genetic database to “the Google of genetic information,” and with more than $87 million in capital raised and affordable genetic screens already on the market, Invitae is well on its way to making genetic testing routine medical practice.
The BioScience Forum is a nonprofit organization that hosts monthly educational and networking activities in South San Francisco for professionals working in the life sciences and healthcare. Be sure to check out the next upcoming event at www.biosf.org