The importance of genetics in the public health care system: report on the closing down of a genetics division in São Paulo, Brazil

Abstract

The availability of genetics services in hospitals should be an issue of public concern. Having genetics services helps shorten the time spent in making diagnoses and reduces the average number of inpatient days; it also helps accelerate the choice of adequate treatments, prevents or minimizes sequelae, and, ultimately, reduces costs. The objective of the present study was to describe the closing down in 1996 of the genetics division at the Menino Jesus Children's Hospital, a pediatric institution located in the city of São Paulo, SP, Brazil. A retrospective analysis was carried out of the work performed by this division between 1992 and 1996, with an emphasis on the detection of chromosomal abnormalities. Of all cases assessed during the study period, 571 were entered into a database. Some kind of chromosomal abnormality was observed in 20% of the 350 karyotypes performed. The existence of genetics services in hospitals helps minimize the appearance of clinical symptoms in carriers of genetic abnormalities, improves the quality of life of these patients, and enables them to receive information regarding risk of recurrence, while preventing the waste of resources that results from tests that are costly and unnecessary. Such benefits amply justify the investment in setting up genetics services of the type described here.