The Burden of Genetic Disease on Inpatient Care in a Children’s Hospital

Abstract

The important role of genetics in pediatric illness has been increasingly recognized, but the true impact has not been well delineated. An important study of pediatric inpatient admissions to a children's hospital in 1978 found a genetic basis for disease in just less than half of admitted patients. We sought to update this study in light of current hospitalization practices and new knowledge about genetics. We systematically reviewed the records of 5,747 consecutive admissions (4,224 individuals), representing 98% of patients admitted in 1996 to Rainbow Babies and Children's Hospital (Cleveland, OH). Each patient was assigned to one of five groups on the basis of the presence or absence of an underlying chronic medical condition and whether that condition had a genetic basis or susceptibility. An underlying disorder with a significant genetic component was found in 71% of admitted children. The vast majority (96%) of underlying chronic disorders in children in this study were either clearly genetic or had a genetic susceptibility. Total charges for 1996 were >$62 million, of which $50 million (81%) was accounted for by disorders with a genetic determinant. The 34% of admissions with clearly genetic underlying disorders accounted for 50% (>$31 million) of the total hospital charges. The mean length of stay was 40% longer for individuals with an underlying disease with a genetic basis than for those with no underlying disease. Charges and length of stay were similar for children with underlying chronic disorders, regardless of the cause. This study begins to quantify the enormous impact of genetic disease on inpatient pediatrics and the health care system. Additional study and frank public discourse are needed to understand the implications on the future health care workforce and on the utilization of health care resources.

The impact of single gene and chromosomal disorders on hospital admissions in an adult population

“…Consistent with the data reported on hospital admissions of children with single gene and chromosomal disorders (Day and Holmes 1973;FitzPatrick et al 1991;Hall et al 1978;Kumar et al 2001;McCandless et al 2004;Meguid et al 2003;Scriver et al 1973;Stanley et al 2009;Yoon et al 1997;Dye et al 2010), adult patients in our study had more admissions and longer hospital stays than all patients. However, despite the greater LOS of overnight genetic admissions, the cost per admission of patients with single gene and chromosomal disorders was less than for all patients (3,090 versus 3,568 USD), which differs from previously reported pediatric data.…”

“…The proportion of adult patients, admissions, and hospital costs due to single gene and chromosomal disorders reported here and by Day and Holmes (1973) and Giampietro et al (2006) are lower than those reported for pediatric populations (Day and Holmes 1973;FitzPatrick et al 1991;Hall et al 1978;Kumar et al 2001;McCandless et al 2004;Meguid et al 2003;Scriver et al 1973;Stanley et al 2009;Yoon et al 1997;Dye et al 2010). This difference appears to be due to increasing numbers of "non-genetic" patients rather than decreasing numbers of patients with single gene and chromosomal disorders.…”

“…In addition, it was less labor-intensive than direct review. However, there are a number of potential limitations in using a population database to perform this kind of study (Dye et al 2010;Hall 1997;McCandless et al 2004;Yoon et al 1997). A population-based approach using ICD coding may underestimate the impact of single gene and chromosomal disorders.…”

“…A population-based approach using ICD coding may underestimate the impact of single gene and chromosomal disorders. For example, McCandless et al (2004) found that using ICD codes to extract data from hospital databases identified only 75% of the genetic disorders identified by direct review, presumably due to insufficient coding. The hospitals surveyed by direct review are also usually large referral centers, and clinicians in these hospitals are more likely to have experience in diagnosing rare single gene and chromosomal disorders than those practicing in smaller settings.…”

“…Previous studies investigating the impact of genetic disease on hospital admissions have reported that 5-12% of all admissions in children were due to single gene or chromosomal disorders, and that patients with these conditions had more admissions, longer hospital stays, and increased morbidity and mortality than other patients (Day and Holmes 1973;FitzPatrick et al 1991;Hall et al 1978;Kumar et al 2001;McCandless et al 2004;Meguid et al 2003;Scriver et al 1973;Stanley et al 2009;Yoon et al 1997). Given that estimates of the population prevalence of single gene and chromosomal disorders range from 0.4% to 2.0% (Baird et al 1988;Rimoin and Conner 2002;Trimble and Doughty 1974), it is clear that children with Electronic supplementary material The online version of this article (doi:10.1007/s12687-011-0043-3) contains supplementary material, which is available to authorized users.…”