BETHESDA, MD — A wave of genetic research projects sparked by last decade’s completion of the Human Genome Project are slowly making their way to fruition. Researchers, many of whom are based at NIH, are busy teasing apart the genetic mechanisms that contribute to disease, as well as finding ways to give physicians the ability to use genomic data to directly treat patients.
The Cancer Genome Atlas
One of the largest ongoing studies into the genetics of disease, The Cancer Genome Atlas (TCGA), is mapping out the genetic changes that occur during cancer development.
“This program is continuing to make great strides toward its ambitious goals,” National Human Genome Research Institute (NHGRI) Director Eric Green, MD, PhD, told members of NHGRI’s advisory council at a meeting last month.
TCGA has 22 tumor sequencing projects under way and expects to accrue specimens of 3,000 cancers by the end of September. The goal of examining 500 separate samples for each type of tumor has already been achieved, Green said.
“Even with the challenges of data management, TCGA will achieve its goal by the September deadline,” Green said.
Earlier this year, the TCGA research network published its findings on ovarian cancer. It represented the largest, most comprehensive analysis of any cancer to date and confirmed that mutations in a single gene are responsible for 96% of such cancers.
According to Green, TCGA will add to its collection of findings with several upcoming manuscripts, including analyses reporting the results from studies on colorectal cancer, acute myeloid leukemia, and breast cancer.
The Genetic-Tissue Expression Project (GTEx) is a more humble initiative, but no less important, explained epidemiologist Jeff Struewing, PhD, of NIH’s Office of Population Genomics. Its goal is to create a database looking at different genotypes and their link to genetic activity disease, as well as establishing a tissue bank for future studies.
For example, a researcher interested in cardiovascular disease could access GTEx data to view all of the genetic variants in the human genome that affect gene expression in the heart.
When this two-year pilot project was launched in October 2010, the goal was to identify a modest 160 deceased donors identified through autopsy or organ and tissue transplant programs, as well as 160 living donors. From the deceased donors, 50 tissue samples would be taken from all over the body. The living donors would donate tissue post-surgery that otherwise would be discarded.
“It was funded at this size really just to see whether this idea was feasible at all, and to see if we can get out there and get donors and get samples from them,” Struewing told the advisory council.
The project has been slow to recruit donors, however, and it was not until recent months that recruitment has seen success, with nine donors in June, five in July and 15 in August.
“The molecular quality of the data is looking very promising early on,” Struewing said.
All of this data will be placed into a common fund community resource, which will be made available to the broader scientific community, he said, although policies are still being worked out to determine how the data will be accessed.Just the Beginning: Genomics Research Now Used to Identify, Treat Diseases Cont.
Electronic Health Records and Genomics
The question is whether information gathered so far can be of direct use to physicians in treating patients?
NHGRI’s Electronic Medical Records and Genomics (eMERGE) network will receive $25 million over the next four years to prove that the answer is yes. The network’s seven medical institutions and coordinating centers will use the funds to demonstrate that linking a patient’s genomic information to disease characteristics and symptoms in electronic medical records (EMR) can be used to improve their care.
“Our goal is to connect genomic information to high-quality data in electronic medical records during the clinical care of patients. This will help us identify the genetic contributions to disease,” Green said. “We can then equip health-care workers everywhere with the information and tools that they need to apply genomic knowledge to patient care.”
The first phase of eMERGE wrapped up in July and demonstrated that data about disease characteristics in EMRs and patient’s genetic information can be used in large genetic studies. To date, the network has identified genetic variants associated with dementia, cataracts, high-density lipoprotein cholesterol, peripheral arterial disease, white blood cell count, and type 2 diabetes.
In the next phase, investigators will identify genetic variants associated with 40 more disease characteristics using genome-wide association studies across the entire network. DNA from about 32,000 participants will be analyzed in each study. Researchers will then use that information for clinical care.
If the researchers find patients who have genetic variants associated with diseases such as diabetes or cardiovascular disease, they can act to prevent, diagnose, and, if necessary, treat the patients for those conditions.
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