Originally published Feb. 12.
By Turna Ray
Muin Khoury is depressed over the dearth of genomics-related prevention and education objectives that have been proposed as part of the US federal government's Healthy People 2020 project.
Healthy People 2020 is an HHS-led effort that works to improve certain health outcomes in areas of great need as identified by a diverse consortium of stakeholders. Under the "genomics" category, the 55-member interagency consortium has proposed two goals: Increase the proportion of newly diagnosed colorectal cancer patients who receive genetic testing to identify Lynch syndrome or familial colorectal cancer syndromes; and increase the proportion of women with a family history of breast and ovarian cancer who receive genetic counseling.
"I looked at how much research was done in this area, and I was depressed," Khoury told the HHS Secretary's Advisory Committee on Genetics, Health, and Society last week. "Surely, there is more promise [in genomics] than these two objectives," he opined.
According to Khoury, the lack of genomics targets in Healthy People 2020 is a consequence of the gap in the translation of discovery research into clinically useful interventions.
Khoury estimated that out of 350,000 published articles on genetics or genomics, approximately 2 percent of this research has been translated into evidence-based recommendations, mainly gene discoveries related to BRCA testing and hemochromatosis. In 2007, out of 1,000 extramural grants funded by the National Cancer Institute, only one project focused on outcomes research related to BRCA testing.
"This where the puck is with genomics at the population level," Khoury, director of CDC's Office of Public Health Genomics, said before the HHS advisory panel. "There is an evidence gap, a translation gap … the valley of death between discoveries and population health that has to be filled with data."
However, this lack of focus on translational research may be changing, at least at the CDC and with Khoury's efforts to launch a new research translation effort in Genomics, called the Genomic Applications in Practice and Prevention Network, or GAPPNet.
"There are more than 60 studies ongoing at the CDC to figure out what genetic information means for community health. Not sort of a gene discovery but what does it mean for this population or that population, and what the providers know, and what the consumers know," Khoury said at the meeting.
GAPPNet is a CDC and NCI-led effort to drive the adoption of validated and clinically useful genomic technologies [see PGx Reporter 07-15-2009]. Its four key activities include: convening individuals and groups conducting genomics translation research, programs, and policy activities; sponsoring new translational research; synthesizing and evaluating available research findings, and developing and disseminating "validated, useful genomic knowledge and applications for use in medicine and public health."
Although there are only two genetics-focused proposals in Healthy People 2020, that represents a vast improvement over the previous decade. Healthy People 2010 did not include any genetics projects. "In prior years, genetics didn't even get integrated into the way we think about healthy people. But now it does. So, that is encouraging," Khoury said.
The genomics workgroup within the Healthy People 2020 effort will be led by AHRQ's Gurvaneet Randhawa and CDC's Katherine Kolor. With regard to the two objectives around genomic testing for CRC and genetic counseling in breast and ovarian cancer, Khoury said, "At least it's clear what needs to be done in these two conditions and that could drive the data collection and maybe national and state-wide implementation."
The next steps for the genomics workgroup will be to identify targets for the two objectives that the government and stakeholders will agree to achieve by 2020.
"There is every intention that as new evidence-based recommendations are developed in this space, they will be added to this rather meager sort of genomics and population health agenda," Khoury said. "This is where we are right now. This is how things are measured in terms of lives saved and all this promise of genomic technology.
"We're still in 2010 and I hope there will be more to discuss and use by 2020," Khoury said.