We want you! (Your DNA, that is)

Plan to Build Children's DNA Database Raises Concerns

By ANTONIO REGALADO
June 7, 2006; Page B1

Why do some children become obese when they eat junk food, while others don't? Which kids are most susceptible to asthma?

Attempting to answer such questions, the Children's Hospital of Philadelphia, the nation's oldest pediatric medical center, is launching a major effort to collect and analyze detailed DNA profiles on as many as 100,000 of its child patients, the first effort to collect DNA on so many children.

CHOP plans to create a database which hospital researchers can use to study children's genetic profiles, research that could guide the development of diagnostic tests and drugs. The plan is one of the most ambitious yet to take advantage of new DNA-decoding methods that may help scientists identify the genes that put people at risk for common diseases. The 151-year-old hospital, known locally as "CHOP," says it will spend around $40 million over the next three years collecting DNA profiles of children who visit the main hospital and its network of clinics.

Similar DNA database efforts are cropping up across the U.S. and overseas. This spring, the U.K. began collecting blood for a national "biobank" expected to encompass 500,000 people. Kaiser Permanente, the big Oakland, Calif., health-maintenance organization, is developing plans to request DNA samples from its two million adult members.


If their parents consent, children receiving treatment or participating in new-drug clinical trials at CHOP or its clinics will provide a blood sample. Hospital scientists will then use a DNA scanner to create a map, or profile, of the patient's genes. Each DNA profile will contain information on about 500,000 genetic markers; markers varying among patients may be linked to disease.

The new research makes use of information generated by the Human Genome Project, which yielded a map of human DNA in 2000, and follow-on studies. But the new efforts also raise difficult privacy and medical-ethics questions. The issues are magnified in CHOP's project because it involves DNA data from children.

CHOP says the DNA data will be kept in an anonymous database, reducing the risk that any individual's private information could be disclosed. But ethical questions remain. "When you hand over your DNA, you don't know what information is in there," says Patricia Roche, a professor of health law at Boston University's School of Public Health. "Is it OK for parents to give it away?"

Another question is how "informed" the parental consent will be: Once the DNA is collected, patients won't be informed every time the data are studied. Philip R. Johnson Jr., CHOP's chief scientific officer, says parents will sign forms that say, "You can study my DNA and access my medical information." He says the wording is "very broad" to allow different kinds of research.

Some worry that researchers could use a DNA database to carry out searches that some patients would find objectionable, such as attempts to find factors particular to ethnic groups. Others worry that patients asked to participate in a research study would be less willing to discuss health problems with their doctors.

In spite of privacy concerns -- and high costs -- some hospitals and health organizations are rushing to collect their patients' DNA. By linking genetic information to electronic medical records, hospitals are well placed to obtain research funds and patents and to strike partnerships with drug firms. "Over the last four or five years it's been snowballing," says Boston University's Dr. Roche.

It isn't certain that DNA databases will pay off. Several private efforts have folded in recent years. John Glaser, chief information officer for Partners HealthCare, a Boston nonprofit health-care provider, maintains a research database of medical records for 2.5 million patients. Partners says it has considered whether to collect DNA from its patients, but "a lot of people are nervous and concerned about how all this might be get misused," he says.

The CHOP project is one of dozens using DNA-chip technology to develop comprehensive genetic profiles. The chips, some no larger than a postage stamp, are used to detect hundreds of thousands of DNA markers from a sample. Research centers have been pouring money into buying the new equipment, sold primarily by either Affymetrix Inc., of Santa Clara, Calif., or Illumina Inc., of San Diego. CHOP will buy machines and supplies from publicly traded Illumina.

Steven Altschuler, president and chief executive of the Children's Hospital of Philadelphia, says the new DNA-chip technology has made it cheaper to get very detailed genetic information about patients. "We are really talking about doing a very large number of patients very fast," says Dr. Altschuler. CHOP and its 29 private clinics see one million children a year.

With enough children in the database, researchers may learn which genes underlie problems affecting children most, from diabetes and obesity to asthma and cancer. "The ultimate goal is to discover predictive diagnostic markers and later use them on every child in the future," says Hakon Hakonarson, director of the hospital's new Center for Applied Genomics and formerly a senior executive post at DeCode Genetics Inc., an Icelandic gene-hunting company.

Dr. Hakonarson says children make good research subjects because their health problems are more apt to be caused by genetics than by the effects of aging. For instance, finding the genes that predispose children to obesity could help guide the creation of weight-loss drugs.

The rush to build databases has some researchers worried about who will control new discoveries about genetic risk factors. CHOP says it will seek to patent its discoveries. Other research groups say they won't, because the information is so fundamental to medicine. "I would rather see this information in the public domain without patent restrictions," says David Altshuler, head of medical and population genetics at the Broad Institute, of Cambridge, Mass., which this year plans to scan genes of about 10,000 people. Dr. Altshuler says there is a "sense of urgency" to study important diseases before others make discoveries and file patents.