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Re: Cystic fibrosisFrom: zygote@ICSI.NetSat May 23 15:39:23 1998
Having been out of town for 2 weeks and too buzy for the past week to read the list, the above circumstance. There is substanctial discordance for CF testing recommencdations between the ACMG and ACOG. My own bias is that of the ACMG. Given the current availability of CF gene testing (i.e. 30 in the Baylor DNA lab) one can screen for the 30 most common mutations which can then yield max of 90-95% of potential couples who would have delta 508 or other mutation. it will certainly not!!!!!!!! predict 100% of all double mutant disorders especially the other 400,500,600etc of known or currently unknown gene mutations, If it is to be offered then the appropriate counselling is required. The cost is often not borne by inssurance and that critical question often raised in other circumstnaces as to what MAY be done with positive imformation should be discussed. Despite the routine discussion of the availability of testing in our labs, no where close to 100% of folks choose to have tsting even when they present for CVS/GA counselling and procedure. The ACOG stance, I believe from both theorectical and practical views, is that that if routine testing is recommended that the lack of detailed information availability to the average OB care procider will be poor and that information will be even more poorly discussed with patients. At sometime in the future, it may become routine, but certainly that is multiple years away. The best that interested observers can do is to contact either their local DNA lab or national depending upon where their counselling/testing is done and inquire as to the number of major mutations detected and the percentage of disease which may be detectable through heterozygote screening. Hope this helps unless has already been more complete and I have missed seeing it. Robert J. Carpenter, Jr., MD St. Luke's Medical Tower #2720 6624 Fannin, Houston, TX 77030 zygote@icsi.net 713-795-4600 FAX:713-795-4422
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