Practice Trends

SAN FRANCISCO – The cost of sequencing one person’s genome has shrunk from nearly $3 billion 14 years ago to an anticipated $1,000 within the next year or two, a development that positions human genome sequencing to explode into widespread use by researchers and clinicians.

Or maybe not, depending in part on recommendations to President Obama from the Presidential Commission for the Study of Bioethical Issues, which will submit a report on the topic later this year. In preparation, the Commission conducted a day-long public discussion with multiple experts about the potential for medical discoveries from genome research, and the difficulties of protecting patient privacy.

Photos: Sherry Boschert/Elsevier Global Medical News Dr. Rothstein, seated at left, speaks before the Presidential Commission for the Study of Bioethical Issues.

Excitement in some quarters about the already proven ability to diagnose rare disorders via genome sequencing has been tempered by concerns that the field may be moving too fast for the general good. The ability to collect genome data far exceeds the ability to interpret the data. And the growing use of such tests threatens to bankrupt the medical system if it leads to an avalanche of tests for the worried well and untreatable disorders.

Currently, physicians can order sequencing of an individual’s whole exome (all the expressed genes) or whole genome from a few centers on a very limited basis. Approximately 10,000 people had their genomes sequenced in 2011. Perhaps 100,000 will do the same in 2012, estimated Dr. Richard A. Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine, Houston.

While many stakeholders emphasize the importance of free and unrestricted release of human genome data to all researchers, others argue that such open access would also allow third parties to manipulate data to deny individuals insurance or employment, he said. The race is on to try to understand genome data better before uninformed interpreters can do their damage. But clearly, having access to lots of genome data is key to advancing the science, he said.

Melissa Mourges, J.D., explains the portions of DNA used to convict a criminal.

"Less than 1% of the American public understands" genetics, opening the door to manipulation, said Commission Chair Amy Gutmann, Ph.D., president of the University of Pennsylvania, Philadelphia. "There’s a snake oil salesman out there for everything."

Benefits of Unrestricted Access

Among those arguing in favor of the unrestricted access to human genome data to all researchers is Retta Beery. The Baylor center helped diagnose a rare but treatable disorder in her twins, Alexis and Noah. After years of extremely limited mobility, severe breathing problems, costly emergency department visits, imaging tests, and visits to specialists, genome sequencing identified mutations in a gene called SPR that encodes the enzyme sepiapterin reductase. With proper drug treatment, the twins are healthy and high-functioning teenagers today.

02/22/12  

---

FROM THE EIGHTH MEETING OF THE PRESIDENTIAL COMMISSION FOR THE STUDY OF BIOETHICAL ISSUES

---