24 Jul 2013, BioSpectrum Bureau , BioSpectrum
Singapore: National Institute of Health (NIH) has awarded four grants for up to four years to multidisciplinary research teams to explore the use of genome sequencing in medical care. The awards total approximately $6.7 million in the first year and, if funding remains available, approximately $27 million in total.
The areas of research being pursued by these new projects include using genome sequencing to inform couples about reproductive risks, determining the genetic causes of childhood developmental delays and communicating findings to parents, and detecting genomic alterations that can lead to cancer. The new grants are funded as part of the National Human Genome Research Institute's (NHGRI) Clinical Sequencing Exploratory Research (CSER) program.
"Since the first round of CSER program awards were announced in 2011, the use of clinical genome sequencing has seen tremendous growth," said Dr Bradley Ozenberger, CSER program director and deputy director of the Division of Genomic Medicine at NHGRI. "Genome sequencing has vast potential to uncover new targets for therapy. We're continuing to learn how best to use genome sequence data to understand disease susceptibility and causation, and to advance treatment."
The use of clinical genome sequencing has increased due to the advent of more efficient methods for DNA sequencing, but many obstacles remain to its routine use. Some physicians typically lack experience and education in the use of genomic information, said Dr Ozenberger. At the same time, some patients don't fully understand what genomic information can tell them. Many people may be reluctant to find out what information resides in their genome, he said.
"It's not enough to understand the scientific issues related to the medical applications of genomics. Researchers must also examine how best to discuss genome sequencing results and their potential implications with doctors, patients and caregivers," said Dr Jean McEwen, program director for the Ethical, Legal and Social Implications program in the Division of Genomics and Society at NHGRI.
The project will examine the use of whole-genome sequencing in informing couples, before they conceive a child, about their potential carrier status for genetic disease. They will compare women and their partners who receive preconception genetic testing to those who receive whole-genome sequencing in addition to the testing. Scientists will look for genetic mutations for about 100 rare conditions and expect to enroll 380 people in the trial. Couples with mutations that put children at risk for a condition will work with a genetic counselor and complete surveys to help researchers develop useful approaches to presenting information to patients.