No single vali date d outcome measure encompassed all potential patient benefits from using a CGS .
A variety of different domains were identified , including anxiety and depression , coping , decision-making , distress , family environment , health status , knowledge , mood , perception of risk , perceived personal control , psychological impact , quality of life , satisfaction and expectations , self-esteem , spiritual well-being , and worry .
Some important aspects of patient benefit from CGS are not covered by existing outcome measures .
OBJECTIVE This systematic review aim ed to inform research ers and policymakers about what vali date d outcome measures are available to evaluate clinical genetics services ( CGS ) and the need for new measures .
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study.
OBJECTIVE --To assess the efficiency , reliability , and ease of use of DNA diagnosis for Duchenne and Becker muscular dystrophies ( DMD/BMD ) using the polymerase chain reaction ( PCR ) . DESIGN --DNA from the patients was screened for deletion mutations using multiplex PCR , and the results were compared with those obtained by Southern blot analysis . The PCR multiplex reaction detects nine specific " hot-spot " exons in the dystrophin gene while the Southern analysis detects 66 specific dystrophin gene restriction fragments . The multiplex reaction requires 50-fold less DNA than Southern analysis and thus is considerably more sensitive . SETTING --Fourteen university-affiliated and private genetic disease diagnostic laboratories . PATIENTS --Male patients with clinical signs of DMD/BMD . Cases were selected for analysis r and omly , without knowledge of whether a deletion was present within the dystrophin gene . MAIN OUTCOME MEASURES --The percentage of cases that were detectable by multiplex PCR in comparison with Southern analysis , the frequency , extent , and location of the detected deletion mutations . In some cases , duplication mutations were monitored . RESULTS --The accuracy of a single PCR multiplex amplification ( nine exons ) was compared with Southern analysis with 10 cDNA probes that cover the full length of the gene . The multiplex PCR analytic method detected 82 % of those deletions detected by Southern analysis methods . In one of 745 analyses , the multiplex method suggested a single exon deletion , which was not confirmed by Southern analysis , representing a false-positive rate of 0.013 % . CONCLUSIONS --Multiplex PCR represents a sensitive and accurate method for deletion detection of 46 % of all cases of DMD/BMD . The method requires 1 day for analysis , is easy to perform , and does not use radioactive tracers . As such , multiplex PCR represents an efficient and rapid method for prenatal or postnatal diagnosis of DMD/BMD
No single vali date d outcome measure encompassed all potential patient benefits from using a CGS .
A variety of different domains were identified , including anxiety and depression , coping , decision-making , distress , family environment , health status , knowledge , mood , perception of risk , perceived personal control , psychological impact , quality of life , satisfaction and expectations , self-esteem , spiritual well-being , and worry .
Some important aspects of patient benefit from CGS are not covered by existing outcome measures .
OBJECTIVE This systematic review aim ed to inform research ers and policymakers about what vali date d outcome measures are available to evaluate clinical genetics services ( CGS ) and the need for new measures .