A pregnant mom who got a non-invasive prenatal test because she knew at age 40 that her baby was a higher risk for Down syndrome has become a case study in the potential power of precision medicine.
The certified blood test, developed by San Diego-based Sequenom (NASDAQ: SQNM), is sensitive enough to identify bits of fetal DNA shed by the placenta. Such “cell free” DNA circulates in a pregnant woman’s blood, and Sequenom’s MaterniT21 PLUS test screens a blood sample for specific genetic mutations in cell free DNA that are linked to Down’s and several other fetal abnormalities.
In the case of Eunice Lee, the Sequenom test was negative for all of the specified fetal abnormalities. But the test detected other types of genetic mutations, which usually get classified as non-reportable, or “incidental” findings.
Because fragments of Lee’s own DNA also are circulating in her blood, the Sequenom Laboratory director alerted Lee’s obstetrician, who ordered a full-body MRI scan for Lee. The MRI revealed a 7-centimeter tumor in Lee’s colon.
Lee, an anesthesiologist in Santa Barbara, CA, discussed her extraordinary experience yesterday during the opening session of the annual “Future of Genomic Medicine” conference in San Diego.
“I had no idea I had cancer,” said Lee, who remains cancer-free following surgery to remove the tumor, and who delivered a healthy baby named Benjamin last year.
Francis Collins, director of the National Institutes of Health, was among the genomics experts in the audience who hailed Lee’s story as an example of the near-term possibilities for using new genomic technologies to diagnose and treat cancer.
Stunning case just presented of incidental discovery of cancer through a prenatal cell free DNA analysis. Happy ending. #FOGM15
— Francis S. Collins (@NIHDirector) March 5, 2015
When Collins later took the stage, he said a wave of similar genomic technologies that has been building for years is also powering a new federal initiative in “precision medicine” that President Obama outlined just over a month ago. Sometime referred to as “personalized medicine,” or “individualized medicine,” the term has come to describe an emerging approach for diagnosing and treating disease. As the NIH explains it, precision medicine utilizes detailed information on the individual variability in genes, environment, and lifestyle for each person.
“Of the things that are happening right now in biomedical research, this has got to be one of the more inspiring opportunities. But it’s still early days,” Collins said.
“The president really got deeply interested in this, and did his homework, and decided to make this the No.1 priority in biomedical research in the last couple of years of his administration,” Collins said.
Using a model that worked well with the brain initiative, the NIH director said he has created an advisory committee that will be responsible for developing a plan for carrying out the initiative. He also named Yale University’s Richard P. Lifton and NIH deputy director Kathy Hudson to head the group.
The budget for the initiative proposed for fiscal 2016 calls for spending about $70 million on developing new methods for achieving near-term objectives that use recent innovations in genomics to diagnose and treat cancer. The idea is to develop targeted drug therapies for specific types of cancer—“kind of like using a smart bomb instead of chemotherapy, which is more like carpet bombing,” Collins said.
The precision medicine initiative proposes to allocate another $130 million or so to build a massive database of detailed health and genomic information on 1 million Americans who volunteer to participate in the effort. Doctors would be able to identify crucial variations in their patients’ genomes by comparing the patients’ genomic data against this master database.
Amassing such a long-term, large-scale cohort “gives us access to the kind of deep information and the kind of power that we have not had before,” Collins said. “That means we need to create a whole new set of approaches for collecting every kind of variable from participants.”
A database of 1 million whole genomes—a single human genome is about 350 gigabytes—also will require innovations in high-performance computing, managing Big Data, and in predictive analytics. It also would serve as a powerful test bed for a wide array of new applications in mobile health, and in improving the utility of electronic medical records for patient care and research. Such a database also is expected to drive innovations in genomics that include new ways of assessing the risk of disease, why some patients remain resilient even with genetic mutations known to cause disease, and a greater understanding of so-called “knockout genes” in humans, Collins said.
He later added, “This will be a phenomenal foundational platform for testing all manner of interventions that will focus on both wellness and the management of chronic disease.”
Collins said he began calling for an initiative like this over a decade ago, and now a series of technological trends are coming together to finally make it feasible.
These trends include whole-genome sequencing for under $5,000, smartphones and wearable devices that can capture personal health and fitness information, healthcare providers’ widespread adoption (over 90 percent) of electronic medical records, and cloud-scale computing power.
The concept of precision medicine is not new, Collins said. “If you go to the optometrist, you expect to get eyeglasses that are actually for you, and not a generic person. If you need a blood transfusion, you probably want that to be matched to you, and we’ve been doing that for almost a century.”
Nevertheless, “It’s still the case that much of medicine is one-size-fits-all, and we’d like to change that if it’s going to improve outcomes,” Collins said. “That includes such things as genomics, of course, but also other kinds of technologies, access to electronic medical records, the mHealth revolution, and so on.”
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