Precision medicine brought hope to thousands of families coping with rare and deadly diseases. For the first time, gene therapies for disorders such as X-linked severe combined immunodeficiency (SCID, better known as the “bubble boy disease”), and spinal muscular atrophy (SMA) have shown remarkable safety and efficacy results in clinical trials. Scientists developed an experimental custom treatment for genetic disease in record time to help treat 8-year old Mila Makovec, who has Batten disease, a rare genetic disorder that involves rapid neurodegeneration and is fatal.

2019 has built steadily on 2018 developments, with significant technological advancements and opportunities for precision medicine reported. This year has delivered companies consistently achieving their milestones, clinical applications reaching new heights, major acquisitions along with significant other business announcements, new medicines creating hope for disease management, and significant published research findings.

The resulting applications are robust, riding on the back of mature and affordable sequencing – and are numerous in cancer care, undiagnosed diseases, and cardiovascular disease. Routine clinical profiling and diagnostics, including the management, integration, and interpretation of large clinical data have become a priority at many medical organizations. New technologies in data scaling, data management, and knowledge extraction are creating new opportunities in health care, with artificial intelligence and trustworthy computing solutions taking center stage. The recent FDA approvals of Trikafta, a gene-based therapy and the new gene therapy drug, Zolgensma embody these new advancements of molecular driven disease treatment, creating hope for children with cystic fibrosis (Trikafta) and spinal muscular atrophy (Zolgensma). At the same time, and as often discussed at our PMWC conferences and communications, these novel therapeutic options also pose a challenge for the industry with ever-increasing costs [Zolgensma at $2.1M is now the world’s most expensive drug]. Yet, Zolgensma and Trikafta both nicely illustrate how a greater understanding of the underlying mechanisms of a disease can lead to a more targeted/personalized treatment with higher success rates.

Some of the highlights related to genetics and precision medicine that shaped 2019 include the move of genome sequencing into clinical care [Jefferson Health combining genomics, and population health to enhance employee wellness with its partner, Color; Helix partnering with AdventHealth to screen FH-linked genes via the WholeMe study; Intermountain Healthcare together with deCODE genetics launching the largest DNA mapping effort; Mayo Clinic collaborating with Regeneron to generate whole exome sequencing and genotyping data of 100,000 DNA samples], major initiatives and partnerships that tackle clinic-genomics datasets [Stanford-led study collecting extensive data for a subset of individuals to piece together a new understanding of what it means to be healthy and how deviations from an individual’s norm can flag early signs of disease; Verily Life Sciences launching Baseline Health System Consortium with Duke University, Mayo Clinic, and Vanderbilt University]; and the significant projects that tackle data interoperability [All of Us precision medicine program; Apple to integrate Allscripts’ EHR data into its Health Records platform, to benefit the company’s Baseline Health Study], and the release of large unprecedented data as a resource to the community [50,000 individual’s UK Biobank genetic data to be made available, generated via the UK Biobank, Regeneron, and GSK collaboration], just to name a few highlights.

And here are a few notable events on the commercial side: 10x Genomics went public, Illumina is still trying to integrate Pacific Biosciences under its helm, seemingly with some challenges; MGI has been launching its first “benchtop” sequencing laboratory and automation products; Oxford Nanopore is growing rapidly, and the direct-to-consumer (DTC) genetic testing market – due to privacy concerns and the limited long-term value – is experiencing a slowdown.

Amazing advancements were also made on the technological side with GRAIL announcing significant progress with its multi-cancer (N=12) early blood detection test, including an FDA Breakthrough Device Designation, while the Guardant360 liquid biopsy test demonstrated that it’s as good as a tissue-based test for identifying treatment options for lung cancer. And of course artificial intelligent was abuzz with its many promising applications that include speeding up the development of drugs, cancer detection, or helping doctors select treatments for complex cancer cases. Of course, advancements and a push toward applications always lead to a call for review of appropriate regulatory guidance, and earlier in the year, then FDA commissioner Scott Gottlieb released a white paper that sets forth the broad outlines of the FDA’s proposed approach to establishing greater oversight of the rapidly evolving segment of AI products in medicine.

As is unavoidable in business, there were also some unfortunate setbacks in the area of precision medicine that are worth noting: the wellness company Arivale shut down, due to the fact that they were “simply too early” with their product offerings. Veritas Genetics ceased operation in the US due to recent fundraising challenges, and the microbiome company uBiome filed for bankruptcy amid aggressive growth tactics that lead to improper billing codes and subsequently its assets were acquired by Psomagen, a Maryland-based subsidiary of the South Korean firm Macrogen.

Research findings were substantial and impactful – to name a few: (1) the largest pan-cancer study of metastatic tumor genomes identified tumor driver genes and demonstrated the importance of comprehensive genomic tumor profiling for precision medicine in cancer; (2) a closer look at the landscape of genetic content in the gut and oral human microbiome uncovered a staggering microbial gene diversity; (3) the key gene behind the hallmark of Lou Gehrig’s disease has been identified; (4) a blood test that could potentially detect breast cancer up to five years before a lump or other symptoms appear; (5) AI has been shown to more accurately diagnose skin cancer than 58 skin experts; (6) single-cell proteomics atlas of the tumor and immune ecosystem of human breast cancer reveals tumor and immune cell diversity; and (7) clinical use of current polygenic risk scores may exacerbate health disparities.

2019 was a year of extraordinary funding rounds with artificial intelligence leading the funding influx; Freenome closing $160M, Tempus securing $200M, Sophia Genetics raising $77M, PathAI raising $75M, while the immunotherapy companies ArsenalBio raising $85M, Achilles Therapeutics raising €110M, and BioNTech raising a total of $352M in one of the largest financing rounds ever. Lastly, major acquisitions occurred in 2019: in the pharma/biotech sector including the $74bn acquisition of Celgene by BMS, the $8bn acquisition of Loxo Oncology by Eli Lilly, and the $4.8bn purchase of Spark Therapeutics by Roche. In the genomics sector, Qiagen completed the acquisition of N-of-One, Exact Sciences acquired Genomic Health, and Invitae acquired Singular Bio.

“Given the eventful year, it’s been, what better way is there to ring in the New Year than with a conference that highlights these significant developments that are changing the practice of personalized medicine?”

Be among the first to hear where the field is moving, what the next phase of precision medicine will look like, and how it will impact you and your business. PMWC 2020 is just around the corner, taking place January 21-24 in the Santa Clara Convention Center, Register by December 31 for a $1474 rate vs $2000 full-rate pass!

We hope to see you there soon!