The National Institutes of Health 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. NHGRI is part of NIH.
The new grants expand on the initial CSER program awards given to six research teams in December 2011. The current funding includes approximately $5 million from the National Cancer Institute, also part of NIH.
"Since the first round of CSER program awards were announced in 2011, the use of clinical genome sequencing has seen tremendous growth," said Bradley Ozenberger, Ph.D., 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 Jean McEwen, J.D., Ph.D., program director for the Ethical, Legal and Social Implications program in the Division of Genomics and Society at NHGRI.
The new CSER program grants are awarded to the following groups:
Principal Investigators: Katrina Goddard, Ph.D., and Benjamin Wilfond, M.D., Seattle Children's Research Institute
Drs. Goddard and Wilfond will lead a project that examines 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.
Principal Investigator: Richard Myers, Ph.D.
Dr. Myers and his colleagues will sequence the genomes of nearly 500 children with developmental delays and other disabilities, along with their parents, in the hopes of discovering genomic alterations behind such disorders. As many as 1 to 3 percent of children worldwide are born with genetic disorders that lead to developmental or intellectual delays or disabilities. The researchers hope to uncover gene alterations that are common to more than one condition and gain insights to whether certain mutations cause milder or more severe cases of some conditions. The scientists plan to provide information on genetic differences to study participants and families and use questionnaires and interviews to better understand the impact of genomic testing results on families.
Principal Investigator: Arul Chinnaiyan, M.D., Ph.D.
Dr. Chinnaiyan and his team will sequence the genomes of tumors from 500 patients with advanced sarcoma or other rare cancers to discover new information about genomic alterations, with the goal of eventually customizing therapies. Few clinical trials have been conducted in most rare cancers, and scientists would like to know more about the genetic underpinnings of these diseases. Investigators also plan to evaluate the patient consent process, and the delivery and use of genome sequencing results.
Principal Investigators: Gail Jarvik, M.D., Ph.D., Wylie Burke, M.D., Ph.D., Debbie Nickerson, Ph.D., Peter Tarczy-Hornoch, M.D.
Dr. Jarvik and her colleagues at the University of Washington will lead the coordinating center responsible for pulling together all of the scientific teams, helping to organize studies, interpreting study results and helping groups focus on common goals. The coordinating center team members bring their own expertise in clinical genetics, genome sequencing, bioinformatics and ethics.
These awards are supported by NIH grants 1UM1HG006508-01AL, 1UM1HG007292-01, 1UM1HG007301-01, and 1U01HG007307-01.
|Contact: Steven Benowitz|
NIH/National Human Genome Research Institute