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Inherited deficiency of medium-chain acyl-CoA dehydrogenase (MCAD) is a severe, sometimes fatal disorder. A single mutation in the MCAD gene, 985A>G, is involved in approximately 90% of cases. To evaluate the relevance of implementing a systematic population-based screening program in the province of Quebec using a biochemical test, we measured the prevalence of this mutation in a set of anonymous newborn samples from the Quebec City area, a region where the majority of its inhabitants are French-Canadians. An allele-specific polymerase chain reaction assay was designed and used to detect the mutation in 7143 DNA samples obtained from consecutive anonymous newborns. Pools of eight DNA samples were genotyped in parallel for the same mutation to validate this pooling strategy. The allelic frequency of the MCAD 985A>G mutation was found to be 0.71% and the carrier frequency 1:71 (95% confidence interval 1:55 to 1:98). This estimate predicts a homozygous frequency of 1:19,837. Ninety-nine heterozygous carriers and one homozygous individual were identified out of 7143 samples. There was 100% concordance between the individual and pooled analyses, and the pooling strategy reduced the total genotyping costs by approximately 70%. The carrier frequency estimated for this population is similar to other northwestern European populations and would support implementation of systematic newborn screening (such as tandem mass spectrometry screening) for this disease. Pooling DNA samples followed by genotyping appears to be cost-effective for estimating prevalence of rare mutations.

We analysed the cost-effectiveness of a teleconsultation service after five years of operation. The service provides diagnostic consultation at a distance for children suffering from cardiac pathologies. A retrospective study was performed with all 78 infants who had received a paediatric cardiology teleconsultation over a four-year period from January 1998. The cost-effectiveness of telecardiology was compared with that of the conventional means of providing services. Teleconsultation proved to be an effective and reliable method of enhancing access to tertiary care. The number of patient journeys (both emergency transfers and semi-urgent or elective visits to the tertiary care centre) was reduced by 42%. However, the cost analysis demonstrated that teleconsultation did not result in overall cost savings: the total cost of telecardiology was C dollars 272,327 and the total cost of conventional care would have been C dollars 157,212. There were direct savings for patients but not for the health-care system, because of the high cost of the equipment and telecommunication fees. Telemedicine therefore represented a supplementary cost of C dollars 1500 per patient. In summary, telemedicine added to cost but increased effectiveness. The incremental cost-effectiveness ratio of teleconsultation was estimated to C dollars 3488 per patient journey avoided.