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: [[ticker: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
