A few years ago, using genetic sequencing to better target and treat rare and chronic diseases was largely out of reach for most healthcare organizations due to cost and technology limitations, according to a recent panel discussion at the Cleveland Medical Innovation Summit.
But with new and more cost-effective technologies emerging every day, the world of genomic medicine — an emerging practice that incorporates genetic information on an individual as part of their care — is getting larger.
What is Genomic Medicine?
The practice was jump-started largely by the Human Genome Project, an international research effort launched in 1990 to map all human genes. Completed in 2003, it provided a complete genetic blueprint that researchers and clinicians have continued to build off of for the last decade to better understand biology and chronic diseases, expanding precision medicine efforts, according to the National Human Genome Research Institute.
The Cleveland Clinic’s Genomic Medicine Institute in Ohio, for example, is working to put genomic advancements into practice with the help of IBM’s artificial intelligence platform, Watson for Genomics. Meanwhile, Rady Children’s Hospital Institute for Genomic Medicine in San Diego is using genomic medicine and technology to screen, diagnose and treat children in its intensive care unit.
“It’s not that in healthcare there haven’t been DNA-based tests. They have been around for decades, but they were very limited,” says Dr. Eric Green, director of the NHGRI in Bethesda, Md., who began his career as a pathologist several years ago. “What has changed is the ability to comprehensively analyze a person’s genome, or our complete collection of DNA.”
Health IT Advancements Make Genomic Medicine Cost-Effective
So, what made this dramatic change possible in just a few years? According to Green, it was two things: research and technology.
“The first change is an incredible increase in our knowledge about the human genome that came out of the Human Genome Project. And from that, an increased understanding of how the genome works, and how changes or differences between peoples’ genomes influence health and confer risk for disease,” says Green.
The key change, however, came from “incredible” healthcare technology advances that have reduced the cost of DNA sequencing by a factor of a million in just the last 14 years. The NHGRI estimates that it cost between $500 million and $1 billion to generate the first human genome sequence in 2003.
“The first time we ever sequenced the human genome was part of the Human Genome Project and that cost roughly $1 million. Today it costs about $1,000,” Green says.
It wasn’t any one tech innovation that made this possible, but instead multiple incremental healthcare technology advances cobbled together to push the field forward, says Green. Artificial intelligence, including IBM’s Watson, has had a powerful impact on the field.
Rady Children’s has had first-hand experience with technology’s impact on making genomic sequencing cost- and time-effective for children and infants in its intensive care unit. Stephen Kingsmore, president and CEO of Rady Children’s Institute for Genomic Medicine, credits two pieces of technology in particular.
“The new Illumina NovaSeq sequencer has reduced the cost and increased the speed and scalability of human genome sequencing. Likewise, technologies such as the Edico Genome DRAGEN software/hardware have enabled genome analysis to be performed in about one hour instead of several days,” says Kingsmore.
How Is Genomic Medicine Improving Healthcare?
While Green stresses that the health industry is just seeing the tip of the iceberg as to what genetic sequencing can do, it is already entering other hospitals in very tangible and medically justified ways.
Noninvasive prenatal testing — Far and away the largest use case for genomic medicine thus far, prenatal testing can offer couples a window into the genetic health and well-being of their child. And while prenatal testing has been available for many years, advancements in genomics made the process dramatically less invasive. “Previously, you would typically use a large needle to gather fetal cells from some of the amniotic fluid and look at the chromosomes under a microscope,” says Green. “That’s going away because we now have the technology to detect and analyze the small amounts of fetal DNA available in a pregnant mother’s own blood, which we can get from a simple blood draw.”
Treating and diagnosing cancer — Already, researchers are looking into ways to use genomic testing and DNA sequencing to gain insights into a patient’s particular cancer, which can offer more targeted treatment options. “This will provide us with a much better way of categorizing cancer. We will increasingly get much better insights into the underlying mutations that cause cancer and, from that, create better ways of predicting the course for that patient and determining more personalized treatment options,” says Green.
Pharmacogenomics — Anyone that’s ever had an allergic reaction to an antibiotic will tell you that not all medicines work for every person. With genome sequencing, however, doctors could predetermine whether a patient would respond to a certain drug before prescribing it, says Green.
Shortening the time to genetic diagnosis — Rady Children’s is using rapid whole-genome sequencing to shorten the time from onset of symptoms of a genetic disease to diagnosis from months or years to days. “This allows us to treat children with genetic diseases in a much more precise way than previously,” says Kingsmore. “About one-third of the children we test receive a genetic disease diagnosis. In about one in four, such testing results in more precise care. In about one in five, such testing improves outcomes, such as decreased morbidity or mortality.”
Laying the Infrastructure to Make Genomic Medicine Possible
As genomics enters a new era, how are innovative hospitals managing to lay the digital groundwork necessary to introduce genomic testing into patient care?
At Rady Children’s, Kingsmore points to several factors that have enabled the hospital to successfully use genomic technology, many of which involve honing a well-rounded healthcare technology ecosystem.
“We’ve hired a fantastic team of developers and IT experts,” Kingsmore says. He adds that the institute has fully integrated its IT and software with that of the hospital so it can share information and resources freely. “We’ve also focused primarily on using commercial software and IT products, and have established collaborations/partnerships with quite a few companies to help us incorporate genomics in healthcare.”
Moreover, where there are gaps in existing software, the IT team has the ability to build or modify the software to fill them. Last, the team uses cloud computing and web services extensively to boost its research abilities.
Rady Children’s isn’t alone in its use of the cloud. Several healthcare and research organizations are leveraging the technology in order to effectively store and analyze the troves of data that come alongside genetic sequencing.
The National Cancer Institute Genomic Data Commons at the University of Chicago, for instance, is the largest data commons in the world, holding more than 5 petabytes of cancer genome data from 39 sources. It relies on a cloud platform that leverages technology, including OpenStack and the IBM Cloud Object Storage system, and will rely on the cloud as its inventory continues to grow.
“This is a critical mass of genomic and associated clinical data to accelerate research for the cancer research community,” Dr. Robert Grossman, a principal investigator for the project, told HealthTech. “Genomic data sets have grown larger and it’s harder for individual researchers to download and analyze all this data themselves. We consistently process all data, identifying mutations and other genomic variations, to make it easier for the community to use the information.”
Hurdles Remain for Genomic Medicine
Technology isn’t the be-all-end-all for genomics.
Even as the field moves forward at a rapid pace, hurdles remain for many providers looking to adopt the technology. Regulatory and reimbursement issues need to be smoothed out and providers still need to discover and apply best practices around all the different applications of the practice. But as physicians move ahead with the technology, it’s likely that incremental progress will bring genomics into patient rooms a little more every day.
“None of this is going to happen overnight, but I think it’s very clear that the train has left the station — genomics is going to become a routine part of medicine,” says Green. “And now, while it likely won’t become part of every nook and cranny of medicine, we are going to find ourselves in a very interesting transition phase for the next 10 to 20 years as it begins to spread throughout clinical practice.”