Hospital Study Shifts Protocol to Inform Its Participants of Worrisome Test Results
Children’s Hospital Boston, breaking with scientific convention, has designed a new genetic research project so information gleaned from DNA submitted by patients and their families can benefit not only science, but potentially participants themselves.
No decisions have been made on what will be passed on to families, but research has already identified genes associated with conditions such as autism, diabetes and obesity. Families who learn they are at genetic risk might seek medical intervention sooner. Others may adopt lifestyle changes to try to lower their risk.
Channing Johnson for The Wall Street Journal
Lab technologist Mei Han works May 18 in the Boston laboratory where DNA samples from the Children’s Hospital Boston study are processed.
In most large-scale genetic research, people contribute genetic information knowing they will receive neither payment nor personal results. One big reason is the concern among researchers and medical ethicists that people would be confused or alarmed by the information, which isn’t always well-understood even by geneticists. Some genes confer increased risk for disease, for instance, but that doesn’t mean someone will definitely get sick.
But the Boston project, at one of the nation’s leading pediatric hospitals, comes at a time when researchers are starting to confront whether more medical information should be shared with participants in genetic studies. New technologies allow researchers to run many genetic tests at the same time, revealing potentially important health information about individuals.
“We plan to follow these families for years,” said Kenneth Mandl, one of the principal investigators on the Gene Partnership Project. “In order to ask people to spend more time with this project, we felt we needed to give them something back.”
One of the project’s goals is to pinpoint the genetic causes of a range of childhood diseases by seeing how lifestyle and environment interact with genetic risk over time. But a key notion is that researchers will be in regular communication with participants. Families will be told of relevant clinical findings regarding their genetic information, as well as clinical trials or other research studies applicable to them.
The More You Know
Genetic information can prove useful for people at risk for conditions such as:
ADHD: A number of genes have been identified that are associated with ADHD. Studies show that ADHD runs in families.
Type 1 or Type 2 diabetes: Research about Type 1 diabetes has led to studying risk in relatives of patients with diabetes. Genetic studies are also showing that certain genes increase risk of Type 2 diabetes even in people who aren’t obese.
Obesity: If someone has a genetic predisposition for obesity, changes in diet and other interventions may have an impact.
High cholesterol: Researchers believe that most cases are the result of genetics combined with lifestyle, including diet and exercise.
Investigators have already collected several hundred DNA samples from children, their siblings and parents. The hospital plans to start recruiting in the next several weeks from the roughly 60,000 children seen every year at the hospital’s emergency room. The goal is to collect 10,000 DNA samples every year and ultimately to make gene testing part of routine health care at the hospital. Families participate at no cost.
The hospital has invested about $10 million from federal grants, donations and hospital funding, and is working to raise an additional $50 million over the next three years.
The Gene Partnership Project is one of a growing number of genetic databases around the country, many collecting DNA from people with specific diseases. Typically the samples, usually blood and saliva, are housed at academic medical centers or hospitals, and researchers interested in studying different diseases submit proposals requesting samples from the databanks. Any findings are usually published in scientific papers but not returned to participants.
Isaac Kohane, one of the principal investigators, said his involvement grew out of an autism study he did with another co-investigator, Louis Kunkel. The research revealed that two children in the study might have leukemia. Under the terms of the study, the researchers weren’t supposed to give clinical information back to the patients. But such so-called incidental findings are increasingly common as researchers use more sophisticated genetic testing.
“I lost two nights of sleep over what to do,” Dr. Kohane said. The researchers realized after retesting that the finding was a false positive, but they started talking about ways to communicate clinically relevant information to participants.
Children’s Hospital Boston gets permission from parents but also explains the project and gains assent from children ages 7 or older, then again at age 13. If the child doesn’t want to participate at any stage, the DNA is destroyed. At age 18, participants must give consent to continue to participate, said Ingrid Holm, who is one of the co-investigators of the Gene Partnership.
When investigators find genetic information they believe should be shared, a special oversight board including geneticists, ethicists and advocates weighs whether the data are scientifically valid enough to share with interested families. One of the issues is whether the findings require some kind of intervention, such as medical treatment or a lifestyle and dietary change.
Patient data are anonymous, but the families can be contacted through a secure electronic-messaging system.
Jessica Freier of Newton, Mass., whose 11- and 9-year-old sons are seen at the hospital’s developmental-medicine clinic, said, “I had hesitation about my kids’ genetic information being in a database. I wasn’t sure how much I wanted on record.” She said she agreed to do it because she thinks the database may help develop “best practices for treating kids.”
Her 11-year-old son had many questions for the genetic counselor. “He wanted to know how they store it and what they can harvest from it,” she said.
Other projects are considering such steps but are still wrestling with the issue of how to share results in a meaningful way that might allow people to prevent or treat diseases.
Hakon Hakonarson, director of the Center for Applied Genomics at Children’s Hospital of Philadelphia, says the pediatric biobank at the hospital has DNA from more than 100,000 people, including over 60,000 children. Currently, participants receive no genetic results.
He said he personally would “like to give information back because that would be the right thing to do.” His biggest concern is that the samples are collected for research, not for making medical decisions. “We do not want to misinform anyone,” Dr. Hakonarson said.
Posted by Monique Meinecke
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