The health care industry is on the cusp of a major transformation led by advancements in the field of genomics, an area driving greater understanding of human genetics and its application to the development of innovative treatment solutions for various diseases. Progress in genomics is expected to fundamentally disrupt health service delivery models by encouraging more personalized approaches to treatment.
At the forefront of this evolution are several healthcare and biotechnology companies helping to gather genetic data, identify actionable insights and develop new therapies and medicines for genetic disorders. In this post we highlight four companies that are representative of the key segments of the genomics industry targeted by the Global X Genomics & Biotechnology ETF (GNOM), including:
- Genetic sequencing – Illumina
- Computational biology and genetic diagnostics – Genomic Health
- Gene therapy – Bluebird Bio
- Gene editing – CRSPR Therapeutics
Genetic sequencing: Illumina
To understand how DNA influences our health and behavior, it first has to be sequenced. Illumina’s proprietary sequencing technology does just that by identifying the exact order of the three billion ‘letters’ that make up any human’s unique genetic code. Less than twenty years ago, genome sequencing cost hundreds of millions of dollars, but today this process is widely available for less than $100. The development of low-cost sequencing solutions has not only made our genetic information much more widely accessible, but also improved scientists’ ability to understand genetic variation across populations and its impact on health, disease and drug response.
The company has developed a large portfolio of sequencing products applicable to a range of genomic complexity and functional analysis. Illumina’s primary method is sequencing by synthesis (SBS), which the company estimates generates more than 90% of the world’s sequencing data. SBS works by first preparing a DNA sample to be read and generating many copies of the DNA fragments. Then, a primer and fluorescently tagged nucleotides, or the building blocks of our DNA, are added to the fragments to create ‘reads’ of the clustered DNA fragments. The data from the millions of reads are then analyzed to determine the appropriate order of the entire sequence.
Illumina’s growth is indicative of the technology’s wide-ranging uses, from early-stage cancer identification to selective breeding of farm crops. Indeed, health care could increasingly rely on the data generated by Illumina to continue improving medical diagnostics and treatment development on the path to personalized medicine.
Computational biology and genetic diagnostics: Genomic Health
Once genetic data is sequenced, the results can then be analyzed to determine a patient’s risk and susceptibility to many kinds of illness. Genomic Health focuses on using genomic intelligence to specifically inform cancer treatment decisions. The company does so by acknowledging that all cancers are unique and affect people differently, depending on their personal biology. The company has therefore created a series of diagnostic tests that gather genetic information about patient tumors and guide cancer management and treatment for breast, prostate, colon and lung cancers. Genomic Health’s tests help answer, precisely and accurately, important questions such as: are there cancer cells present? what therapy is optimal? how is the tumor responding to treatment? and is the patient still in remission?
Genomic Health leverages genetic insights to inform and even personalize patient engagement at every stage of care, from diagnosis to recovery. The company has explicitly committed itself to eliminating the “one-size-fits-all” approach to oncology that can often result in over- or under-treatment.
Gene therapy: Bluebird Bio
Some companies are taking genetic insights a step beyond diagnostics and using such information to inform drug development. One field that has blossomed as a result is gene therapy, which seeks to detect, cure or treat diseases by identifying and/or modifying an organism’s gene expression or functioning – in other words addressing the disease at the genetic level. Such methods include deactivating a gene mutation with an appropriate ‘blocker’ or adding copies of a functional gene.
Bluebird Bio is a gene therapy company that has focused on the latter approach. Its methods add functional copies of a faulty gene to a patient’s stem cells, which are in-turn re-administered to the body via a bone marrow transplant. The patient’s newly implanted cells duplicate via a process called engraftment.
In May of 2018, Bluebird Bio’s Lenti-D product received the U.S. Food and Drug Administration’s (FDA) ‘Breakthrough Therapy’ designation, which expedites the development and review of medicines intended to treat a life-threatening disease, particularly when early clinical evidence indicates potential for substantial improvement over existing solutions. Lenti-D seeks to treat cerebral adrenoleukodystrophy (CALD), a rare yet life-threatening neurological disorder. Preliminary data from ongoing clinical trials have demonstrated that two years after the one-time gene therapy administration, most patients have been cured without treatment-related complications. The company is expected to file for FDA approval by the end of 2019.
Lenti-D, however, is just one of Bluebird Bio’s therapies in the pipeline, as it is early days for the gene therapy industry. The FDA just approved the first gene therapy for use in 2017 to treat a rare form of inherited blindness. Bluebird Bio is actively researching and developing treatments for sickle cell disease, B-thalassemia and multiple myeloma, and the company has invested heavily in T-cell engineering and immuno-oncology to help patients’ own immune systems destroy cancer cells.
Gene editing: CRISPR Therapeutics
Gene therapy, however, is not the only treatment method currently of interest to scientists and healthcare practitioners. Gene editing not only influences the gene expression pathway, but also alters the genetic sequence by inserting, deleting or replacing DNA at a specific location in the genome.
There are several methods of gene editing currently under exploration but much of the recent hype surrounds CRISPR-Cas9 technology, which uses an enzyme to recognize, cut and often substitute individual DNA units without affecting the overall strand. Gene editing procedures can occur either in cells first removed from the body and then added back in (ex vivo) or directly inside the body (in vivo). The Swiss company CRISPR Therapeutics gets its namesake from this innovative tool.
While gene editing is still very much an early-stage field, the few companies in the field like CRISPR Therapeutics have already built robust treatment pipelines. Currently, CRISPR Therapeutics has R&D efforts to treat cystic fibrosis, Duchenne muscular dystrophy (DSD), Hurler syndrome, type 1 diabetes and several other diseases.
CRISPR Therapeutics’ diabetes efforts, for example, leverage advances in adjacent medical fields such as regenerative medicine and immunology. Recent research has demonstrated that stem-cell based replacement of pancreatic beta cells can potentially cure patients with type 1 diabetes. A major challenge, however, is that patients’ immune systems will naturally recognize these cells as foreign. CRISPR Therapeutics hopes to use its technology to directly edit immune system response genes to protect the transplanted cells rather than attack them, and thereby deliver potential long-lasting health benefits.
CRISPR Therapeutics and its peers plan to leverage a wide range of gene editing techniques to treat many previously incurable, life-threatening diseases.
Together, these trends in genomics should help accelerate the healthcare industry’s push towards personalized medicine and improve the health of millions suffering from genetic disorders worldwide. While this evolution will not happen overnight, several companies are taking significant first steps to expanding the availability, accessibility and quality of genomic-based health services.
- GNOM: The Global X Genomics and Biotechnology ETF seeks to invest in companies that potentially stand to benefit from the increased use of genomic technology and science. Current holdings of the fund can be found by clicking the fund name.