Genetic Disorders Common Among Hospitalized Children; New Findings Carry Important Implications For Medical Training And Patient Care

The study led by a pediatrician and medical geneticist at the University of North Carolina at Chapel Hill, found such disorders accounting for more than two-thirds of all children admitted to a large full-service pediatric hospital over a one-year period.

Moreover, regardless of reason for admission, children whose underlying disorder had a strong genetic basis tended to be hospitalized longer, charges for their care accounting for 80% of total costs.

The new findings and their potential implications will be presented Monday April 30th to the 2001 Pediatric Academic Societies and American Academy of Pediatrics joint meeting in Baltimore, Maryland.

"We consider this study a first step in quantifying the enormous impact of genetic factors on inpatient pediatrics and the health care system," said Shawn E. McCandless, MD, assistant professor of Pediatrics in the Division of Biochemical Genetics and Metabolism at UNC-CH School of Medicine.

"This clearly emphasizes that we the need to train a medical workforce that understands genetic issues, that's able to utilize new genetic information to deliver better patient care and that is able to accurately and appropriately inform patients of the genetic aspects of their disorders."

The medical geneticist notes that a survey of pediatric inpatient admissions in 1973 found a possible genetic basis in just over half, and a clear-cut genetic basis in only 4.5%. "We sought to update this important study in light of current hospitalization practices and new knowledge about genetics," McCandless explained.

The new study surveyed a computerized database of 5747 consecutive admissions, representing 4224 individuals, some with multiple admissions. All had been admitted in 1996 to Rainbow Babies and Children's Hospital in Cleveland, Ohio. McCandless, then a postdoctoral fellow at Case Western Reserve University, conducted his research with Jeanne W. Brunger, MA, now at North Shore University Hospital, Manhasset, NY, and pediatrician Suzanne B. Cassidy, MD, currently at the University of California Irvine.

The researchers included all patients aged 18 years and under, newborns excluded. Patients were divided into one of four groups based on the presence and cause of an underlying chronic medical condition.

I - underlying condition with a clear genetic cause (cystic fibrosis, sickle cell disease, chromosomal rearrangements); II - underlying condition with strong genetic predisposition (asthma, juvenile diabetes, childhood cancers); III - underlying condition with no recognized genetic component (disability due to near drowning, head injury); IV - no underlying condition.

"We found that 35% fell into category I, 36.5% into category II, and slightly less than a third fell into the last two categories, 1.3% and 27.2%, respectively," McCandless said. "So 71.5% of patients admitted to hospital had an underlying disorder with a significant genetic component."

When the study team looked at the charges for care, they found total charges of over $62 million, of which disorders with a genetic basis (groups I and II) accounted for $50 million. And of that $50 million, 63% (more than $31 million) was charged to patients in group I.

In addition, length of hospital stay for children of group I was 40% longer than that for children in group IV. "And there is some evidence that the severity of illness was greater for children with genetic diseases than those having no genetic disorder," McCandless added.

The Carolina researcher points out that "in most instances" the underlying disorder was the primary cause for the admission or was the reason for it.

"We saw very few children who were admitted with simple problems like broken arms or pneumonia. Most individuals that were admitted with simple problems required hospitalization because of an underlying disability that complicated the care," McCandless said.

"There were patients with respiratory illness who, absent an underlying genetic disease, would not have been admitted to the hospital. But because of their underlying asthma or their underlying chest deformity from their genetic disorder, they were not able to cope with the infection as well as children without the underlying disorder."

McCandless noted that the scope of future studies needs broadening.

"A study like this really is the first step. While each individual genetic disease is uncommon, as a group they are not rare. This study demonstrates that genetically determined disorders are a factor in most admissions to a children's hospital. The next step is to broaden the outlook and study larger pediatric populations and to extend this research to adult inpatient and outpatient units.

"There is a clear need for all healthcare providers to be comfortable with the unique aspects of genetically determined disorders. This will require meaningful changes in how we train doctors and other healthcare providers."