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Using Genomics to Make Personalized, Safer Medication Choices for Children

Feb. 3, 2014

First pharmacogenomics study launches in diverse pediatric population

Aiming to reduce adverse drug reactions—which affect some 70,000 children annually in the U.S.1—a study at Boston Children’s Hospital, in partnership with the Medical College of Wisconsin (MCW) and the Children’s Hospital of Wisconsin Research Institute, is using genetic information to predict children’s reactions to medications, ultimately enabling clinicians to select a more individualized therapy for the patient.”

Boston Children’s has offered targeted pharmacogenomic clinical testing at the hospital since August 2012. The new research study, InforMED Kids, currently is enrolling patients seen in the hospital’s Epilepsy, End-Stage Renal, Inflammatory Bowel Disease and Cardiology programs, whose patients also typically require multiple medications, and may expand to the department of Psychiatry.

The researchers plan to enroll 1,000 patients, along with their health care providers; to date, more than 220 patients have enrolled. “Ultimately, our goal is to offer this testing to all patients at the hospital,” said the study’s principal investigator Shannon Manzi, PharmD, of the Boston Children’s Department of Pharmacy.

Blood samples from patients enrolled in InforMED Kids are sent to MCW, an experienced clinical test provider with clinical-grade genetic assays. MCW and the Research Institute offer one of the most comprehensive clinical testing panels for pharmacogenetics. The results are returned to the patient’s health care provider at Boston Children’s, and families are notified and invited to speak with their provider for more information. Families can also request a consult with a genetic counselor.

The study’s primary goal is to determine whether individual genetic differences in enzymes involved in the metabolism or action of a drug predict how patients respond to the drug, as indicated by health surveys and information from patients’ electronic medical records.

“We are excited to collaborate with Boston Children’s Hospital and to be able to offer clinical pharmacogenetic testing,” said Ulrich Broeckel, MD, professor of pediatrics at MCW and an investigator with the Children’s Hospital of Wisconsin Research Institute. “This project builds on our longstanding experience in clinical pharmacogenetic testing as well as our ongoing collaborations with other pediatric hospitals for pre-emptive testing. Based on the data from other hospitals, we are convinced that this test will help physicians in making better drug decisions and provide another example for the power of comprehensive pharmacogenetic testing.”

As the study gathers data on the effects of different genetic variants on drug responses, Manzi and colleagues hope to build a repository and database and ultimately develop prescribing guidelines that tailor treatments to patients’ genetic makeup. Few such guidelines now exist.

“If we are aware of the genetic information at the time of medication prescribing, we can often substitute another drug, or in other cases reduce the dosage to avoid the adverse reaction,” said Manzi, who chaired the Adverse Events Committee at Boston Children’s for 10 years.

Nationwide, according to the Institute of Medicine (IOM) report To Err Is Human2, an estimated 1 in 100 hospital patients experienced a preventable adverse drug event, incurring a cost of about $2 billion for hospital inpatients alone. A review of serious adverse drug events reported to the FDA in 2011 estimates that 2 to 4 million people suffer serious injuries each year.3

As data come back from the study, the patient’s electronic medical record will be flagged when genetic test results indicate potential for an adverse drug effect, and physicians and pharmacists will be informed via pop-up alerts. This process is already in place at Boston Children’s for a limited number of drug-gene pairs and is now combined with the existing infrastructure at the Research Institute and MCW.

The study data will also be used to encourage health insurance companies to reimburse the cost of pharmacogenomic screening. Whether current insurers will cover it, and to what extent, is still unclear, Broeckel and Manzi stated.

A secondary goal of the InforMED Kids study is to learn whether providers, patients and families find the information useful and get feedback on the reports, to improve user satisfaction and ultimately improve the clinical program for all patients.

In addition to Shannon Manzi, PharmD, the study research team at Boston Children’s also includes Catherine Brownstein, MD, MPH, a geneticist and toxicologist; Catherine Clinton, MS, CGS, a genetic counselor in the Program in Genomics; Vincent Fusaro, PhD, of the Children’s Hospital Informatics Program; Wendy Wolf, PhD, director of the hospital’s BioBank; and Jared Hawkins, PhD, of Harvard Medical School. The team at MCW and the Research Institute is comprised of Rachel Kraemer and Praful Aggarwal, MS, as well Gunter Scherer, MD, PhD, and David Bick, MD.


1. Woods D; et al. Adverse events and preventable adverse events in children. Pediatrics 2005 Jan 1; 115:155-60.

Institute of Medicine. Crossing the quality chasm: a new health system for the 21st century. Washington, DC: National Academy Press 2001.

Bond CA; Raehl CL.Adverse drug reactions in United States hospitals. Pharmacotherapy 2006; 26:601-8.

2. Institute of Medicine. To err is human. Washington, DC: National Academy Press 2000.

3. Moore TJ; et al. (2012) QuarterWatch 2011 Q-4: Anticoagulants the Leading Reported Drug Risk in 2011.

The Medical College of Wisconsin is the state’s only private medical school and health sciences graduate school. Founded in 1893, it is dedicated to leadership and excellence in education, patient care, research and community engagement. More than 1,200 students are enrolled in the Medical College’s medical school and graduate school programs in Milwaukee. New regional medical education campuses are opening in Green Bay in 2015, and in Central Wisconsin in 2016, with each recruiting initial classes of 15-20 students. A major national research center, MCW is the largest research institution in the Milwaukee metro area and second largest in Wisconsin. In FY 2012-13, faculty received approximately $160 million in external support for research, teaching, training and related purposes, of which approximately $144 million is for research. This total includes highly competitive research and training awards from the National Institutes of Health (NIH). Annually, College faculty direct or collaborate on more than 2,000 research studies, including clinical trials. Additionally, more than 1,350 physicians provide care in virtually every specialty of medicine for more than 425,000 patients annually.

Boston Children's Hospital is home to the world’s largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including seven members of the National Academy of Sciences, 14 members of the Institute of Medicine and 14 members of the Howard Hughes Medical Institute comprise Boston Children’s research community. Founded as a 20-bed hospital for children, Boston Children’s today is a 395-bed comprehensive center for pediatric and adolescent health care grounded in the values of excellence in patient care and sensitivity to the complex needs and diversity of children and families. Boston Children’s is also the primary pediatric teaching affiliate of Harvard Medical School. For more information about research and clinical innovation at Boston Children’s, visit:

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