Patient Worthy is fortunate enough to be at the 2017 Global Genes Rare Patient Advocacy Summit this week. While the personal stories that have been shared are highlights of the show, another really cool subject discussed is the future of gene sequencing.
Firstly, the panel this morning was stacked with brilliant minds. The moderator was Tim Miller, PhD, CEO and President of Abeona Therapeutics and he’s also on the Global Genes Medical and Scientific Advisory Board.
He gave us a quick science rundown: Gene sequencing is a blood sample that takes an entire “blueprint” of our genetics. Gene therapy is treatment, which is usually informed from the information clinicians get from gene sequencing. The gene makes RNA, RNA makes the protein, proteins make the effects of the disease. Whole genome sequencing really goes beyond the genome (unlike exome sequencing) where we can splice the gene, to show all different forms of the protein.
Whole genome sequencing helps us identify genes with deficits, then with gene therapy, we can remove/replace or target treatment toward that gene to fix the issue. For example, we can do it in vivo, or ex vivo. We can physically take cells from a person’s body, get the cells to correctly express the protein (which causes the effects of the disease), then we can put the new and improved cells back in the patient!
Gene therapy sounds AWESOME. But we can’t do well if we can’t read the entire gene. One of the familiar challenges of providing the entire gene info of a patient to researchers and clinicians is cost.
Miller pointed out that in 2003, it cost $2.3 billion for whole genome sequencing. Now, in 2017 it can be as low as $1,000 to fully sequence someone’s genes.
Right now, running an exome sequence is less informative but is also less expensive than getting a full genome sequence on a patient. However, it uses the same exact technology, according to Howard Jacob, PhD, Executive VP for Genomic Medicine, HudsonAlpha Institute for Biotechnology.
Jacob focuses on reading the whole genome and solving rare and undiagnosed diseases. He’s already a hero to me, but he took a moment to let us know that we are the real superheroes. The ones living with these diseases.
Jacob explained that if researchers and clinicians have the whole genome sequencing blueprint to the patient, they would be so much more informed and able to treat us adequately. He hopes that one day, every patient can get their whole genomes read.
The other challenge to gene sequencing outside of pricing is the science quibbling going on, which while important for scientific advancement, it often negatively affects legislation and creates barriers to getting this technology to the patients. Jacob, like his fellow panelists, wants the whole genome sequencing to being the new standard of care.
One of his reasons for making whole genome sequencing standard is that as we discover new things and develop new technology, we already have the whole picture in that gene sequence to go back and reanalyze/ apply the new tech or discoveries. Using the whole genome makes us more likely to figure out what is wrong with a patient, and how to treat them, versus going back to just the exome sequence.
Jacob has an ally in Ryan Taft, PhD, Senior Director, Scientific Research, Illumina and Co-Chair, and Global Genes Medical & Scientific Advisory Board Member, who aims to collect more evidence to make whole genome sequencing standard of care (thanks Ryan!). His goal is to present this evidence this to insurers and guideline committees in an effort to push the field forward.
Taft sounded hopeful as he expressed that for two or three years, only one insurance company covered whole genome sequencing. Over the last 12 months, we now have six companies that cover this. These little wins indicate we are going in the right direction, maybe just not at the rate we want to be going!
Taft noted that the UK, which is a single-payer system, is moving toward whole genome sequencing because they see the long-term cost-benefit of knowing everything up front. It saves on costs later in life.
Lastly, Daniel MacArthur, PhD, Assistant Professor, Harvard Medical School and Co-Director of Medical and Population Genetics and the Broad Institute of Harvard and MIT, who does sequencing in a research setting versus a clinical setting, also aims to improve diagnosis rate.
He mentioned the Rare Genomes Project. This project aims to empower us so that we can contribute to the understanding of undiagnosed, genetic and rare diseases. All you need to have to participate is a smart phone, tablet or computer. To learn more about this awesome project, click here.
