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NHGRI Reports to Consumers


Whom does the National Human Genome Research Institute consider its consumers? “All people with DNA,” says director Francis Collins.

NHGRI’s annual Consumer Day is designed to bring the human genome home to people who have a stake in it, according to Collins.

This year, on NIH’s campus in early November, a sprinkling of students, teachers, business people, and curious citizens turned up for the event along with scores of staffers and representatives from advocacy groups such as the American Cancer Society and the National Organization for Rare Disorders. They were served with updates on the state of genomics research, descriptions of new technologies, and predictions about how the new biology will alter their lives and work.

Nicholas Dracopoli, executive director of pharmacogenomics and human genetics at Bristol-Myers Squibb, told the crowd how techniques such as DNA sequencing, genotyping, and transcription profiling should lower drug R&D costs by increasing clinical success rates.

Genome consumers also got a peek at a simulated genetic counseling session and tours of the three-year-old NIH Intramural Sequencing Center, a bus-ride away.

Collins even ventured some predictions. In 20 years gene-based “designer drugs” and precisely targeted cancer therapies will be available, and researchers will be warily eyeing the possibilities of germline therapy, he forecast. And by 2030, there will be “serious debate about humans taking charge of their own evolution,” sparking anti-technology movements around the world. Comprehensive genomics-based health care might increase the average human lifespan to 90 years, requiring changes in socioeconomic systems.

Collins admits he might be “going out on a limb a bit,” but his view of the future reveals one big reason for holding Consumer Day: “We’re going to need the input of everyone in society if we’re going to negotiate these challenges,” he says.

—Sherri Chasin Calvo


The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.