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Hi,

this is a very interesting article for those waiting for a dx. In

2000 10% of the genetic test results were WRONG! That's an incredible

high percentage and a good reason to doubt a result when you have

good reasons to doubt. Dan, thanks for the link to the abstracts from

Vienna!

Peace

Torsten

S6.5: THE EUROPEAN EXTERNAL QUALITY ASSESSMENT SCHEME OF CYSTIC

FIBROSIS

E. Dequeker, J.-J. Cassiman

Center for Human Genetics, University of Leuven, Belgium

To evaluate the quality of genetic testing for cystic fibrosis, 136,

145, 159, 173 and 191 laboratories participated in a European study

in 1996, 1997, 1998, 1999 and 2000, respectively. Six purified DNA

samples carrying the more common CFTR mutations were sent with the

request to test them using routine protocols. A panel of experts

reviewed the results together with the raw data. Since 1999 an

evaluation of the interpretation of the data in the written reports

is also included

Over the years the quality of genetic testing for CF improved but the

error rate remained significant (1996: 35%; 1997: 24%; 1998: 21%;

1999: 9%; 2000: 10%). Apart from incorrect genotype results due to

technical reasons and misinterpretation of (technical correct)

results, administrative errors were also made. With regard to the

interpretation of the data in the written reports, the schemes of

1999 and 2000 demonstrated that the way of reporting laboratory

results varies considerably between the different laboratories.

Unfortunately, both in 1999 and in 2000, more than 30% of the

laboratories which submitted reports made a mistake in one or in more

reports (administrative errors, errors in risk calculation, a wrong

interpretation of the results, or confusing genotype results of

samples from patients and carriers)

The gradual reduction in the error rates of the successive QA schemes

for CFTR testing illustrates the benefit of these schemes. However,

no further decrease in error rate was observed between 1999 and 2000.

This supports the idea that continued efforts will have to be made in

order to further improve the genetic services provided to the

community.

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YES!! very interesting. Thank you both for passing these along.

LOVE & HUGS, grandmombev

Lab errors

Hi,

this is a very interesting article for those waiting for a dx. In

2000 10% of the genetic test results were WRONG! That's an incredible

high percentage and a good reason to doubt a result when you have

good reasons to doubt. Dan, thanks for the link to the abstracts from

Vienna!

Peace

Torsten

S6.5: THE EUROPEAN EXTERNAL QUALITY ASSESSMENT SCHEME OF CYSTIC

FIBROSIS

E. Dequeker, J.-J. Cassiman

Center for Human Genetics, University of Leuven, Belgium

To evaluate the quality of genetic testing for cystic fibrosis, 136,

145, 159, 173 and 191 laboratories participated in a European study

in 1996, 1997, 1998, 1999 and 2000, respectively. Six purified DNA

samples carrying the more common CFTR mutations were sent with the

request to test them using routine protocols. A panel of experts

reviewed the results together with the raw data. Since 1999 an

evaluation of the interpretation of the data in the written reports

is also included

Over the years the quality of genetic testing for CF improved but the

error rate remained significant (1996: 35%; 1997: 24%; 1998: 21%;

1999: 9%; 2000: 10%). Apart from incorrect genotype results due to

technical reasons and misinterpretation of (technical correct)

results, administrative errors were also made. With regard to the

interpretation of the data in the written reports, the schemes of

1999 and 2000 demonstrated that the way of reporting laboratory

results varies considerably between the different laboratories.

Unfortunately, both in 1999 and in 2000, more than 30% of the

laboratories which submitted reports made a mistake in one or in more

reports (administrative errors, errors in risk calculation, a wrong

interpretation of the results, or confusing genotype results of

samples from patients and carriers)

The gradual reduction in the error rates of the successive QA schemes

for CFTR testing illustrates the benefit of these schemes. However,

no further decrease in error rate was observed between 1999 and 2000.

This supports the idea that continued efforts will have to be made in

order to further improve the genetic services provided to the

community.

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PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS.

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