Many of their parents have been enrolled and genotyped as well.

The adult studies further investigators' under-standing of the genetic association for common complex diseases and allow researchers to explore adult-onset diseases. The lab analyzes 800 to 1,000 samples a week from healthy and ill participants.

Funded by CHOP and grants from the National Institutes of Health, the center has not contracted financial support from pharmaceutical companies, Dr. Hakonarson said. Some companies have shown interest, particularly as asthma has emerged as a significant health problem in children.

Ethical considerations

Privacy and ethical questions abound in genome research. The Center for Applied Genomics has to tread carefully when collecting genetic data from children.

As the lab's head recruiter, Rosetta Chiavacci, RN, BSN, clinical research manager for the Center for Applied Genomics, gets all sorts of questions from parents considering enrolling their children in the study: Will insurance companies see the genetic information? How much blood will be drawn? Can I see my child's genetic profile?

But she was not prepared for one: Will you clone my child?

Still the No. 1 concern expressed by parents is how CHOP will protect the confidentiality and security of the genetic information, Chiavacci said.

The samples are encrypted four times in CHOP's computer system to ensure the genetic information remains anonymous. The genetic information is connected to patients' medical records so researchers can understand environmental and behavioral interactions. But the patients' names, birthdays, addresses, phone numbers, and other identifying information are removed from their patient histories. Just as researchers do not know whose DNA they are looking at, physicians and clinicians in the CHOP system do not have access to their patients' individual genetic informaion.

The center has genotyped more than 45,000 participants from CHOP and outside collaborators. This information is stored an hour's drive outside Philadelphia and spread among 250 hard drives. If a hard drive ever became lost or stolen, outside parties would recover only fragmented information, Dr. Hakonarson said.

The Center for Applied Genomics takes a hard line on not allowing participants to see their genetic information even if their DNA reveals "hits" for diseases such as autism or diabetes. It is too early to understand the implications of this information.

"If we release the information before we understand the full picture, we may be misinforming people," Dr. Hakonarson explained.

If participants become upset later in life that their parents gave away their DNA as children, the lab will destroy the information. Although they cannot delete existing data, researchers will not use the DNA for further studies. Two people so far have withdrawn.

Despite difficult ethical questions such as these, Dr. Hakonarson said many of the participants will see the lab's discoveries translated to better therapies or even cures for their diseases within their lifetime.

"Children today can benefit from such a therapy later in life," Dr. Hakonarson said.

That is the hope of most parents who agree to the study, Chiavacci said. The lab has eight full-time recruiters who meet with parents in the operating room or in physicians' offices. Because parents do not like to have their children's blood drawn unnecessarily, the recruiters target patients already getting bloodwork. The study has a 95 percent to 98 percent consent rate.

"At Children's, we see a lot of patients with chronic diseases," Chiavacci said. "Parents really look toward us for developing new treatments."

Genomics revolution

With so many studies under way, have we entered the genomics revolution?

Not so fast, said Muin Khoury, MD, PhD, director of the National Office of Public Health Genomics at the Centers for Disease Control and Prevention.

Scientists have not been able to replicate most genomic discoveries. Dr. Khoury prefers the word "evolution," in which case we probably are still in the Precambrian Era.

When the Human Genome Project began in 1990, scientists predicted that by 2010 genomics would be integrated fully into health care.

"Now we are in 2008, and I can tell you we won't get there in the next two years," Dr. Khoury said.

Genomics may not be integrated fully into health care until at least 2020, but more likely 2030, he estimated. In addition to training an entire health care workforce, researchers will have to spend years doing epidemiological studies to figure out how genomics will affect large-scale populations, he said.

"I don't think we're well prepared to deal with this kind of information," Dr. Khoury said.

While the road to personalized medicine might be decades away, several states are putting down the first cobblestones. Utah, Oregon, Michigan, and Minnesota have received CDC funding to develop statewide public health genomics programs.

The Utah Department of Health, for instance, created in 2001 a Chronic Disease Genomics department, which works with the asthma department to integrate genomics into asthma care.

Several factors make Utah the perfect state for laying the foundations for public health genomics. The Mormon Church encourages documenting genealogy records. Many families have stayed in Utah since it first was settled. And Utah's families are slightly larger on average, with 3.57 members compared with the 3.14 national average, according to U.S. census figures.

As part of its genomics campaign, the Utah Department of Health has held conferences addressing the latest genomic research and ethical questions.

How will genetic information be used by employers and insurers? What is the role of newborn screening? Are physicians obligated to share patients' genetic information with their families if they are at risk for developing a hereditary disease?

These big questions can be answered in small measures, according to program specialists. At one conference, they had audience members write down two things they could do in the next year to integrate the topic of genomics into other activities in Utah. One conference attendee, for instance, developed an incentive program for employees who collected a family health history.

"We wanted quick baby steps that will lead to the larger, more effective strategies in the future," said Libbey Chuy, MPH, environmental health program specialist for the asthma program.

They are working to integrate genomics into respiratory therapy and nursing curricula at local universities. Educational programs are in the works for senior citizens, school nurses, and health care practitioners to differentiate the hype from the facts.

"These promises that people are expecting to be fulfilled by genomics haven't happened yet," said Jenny Johnson, BS, health program specialist for the Chronic Disease Genomics Program of the Utah Department of Health. "Our role is to prepare the public health workforce, health care providers, policymakers, and the general public for when these promises of genomics are fulfilled eventually."

God's handwriting

Barnes did not realize how deeply asthma was rooted in her family history until she was diagnosed with asthma in 2006 at age 36. At first she was in denial.

Proof came when she was arm deep in dish water and suffered her first mild attack. But Barnes' second attack persuaded her to get serious about her asthma. Home alone, Barnes felt as though her airways completely closed shut. Unable to talk or dial 911, she sat on the floor and waited it out. "I just prayed," she said.

She has been praying a lot lately, hoping she and her daughters can make it through the day without an attack. The answer to her prayers might lie just a few miles away where CHOP researchers are working steadily to decipher God's handwriting.

References

1.University of Washington Center for Genomics and Public Health. Asthma Genomics: Implications for Public Health. 2004 April. Available from: http://www.cdc.gov/genomics/training/perspectives/asthma.htm.