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Genetic screening for cystic fibrosis
Anthony R Gregg1, Joe Leigh Simpson
1Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA. agregg@bcm.tmc.edu
Insights
New guidelines offer cystic fibrosis carrier screening to all pregnant women, refining genetic disease risk estimates. Recommendations include ethnic-specific frequencies and a pan-ethnic panel inclusion threshold.
Area of Science:
- Medical Genetics
- Public Health
Background:
- Cystic Fibrosis (CF) is a significant genetic disorder.
- Previous carrier screening lacked a systematic, population-wide approach.
- Advances in genetic technology necessitate updated screening protocols.
Purpose of the Study:
- To outline new recommendations for cystic fibrosis carrier screening.
- To establish a systematic approach for offering screening to pregnant women.
- To provide refined risk estimates for cystic fibrosis in a genetic disease context.
Main Methods:
- Development of ethnic-specific carrier frequencies for targeted screening.
- Establishment of a 1/1,000 carrier frequency threshold for pan-ethnic CF mutation panels.
- Framework for concurrent or sequential screening during pregnancy.
Main Results:
- Comprehensive standards for recessive disease screening provided by NIH, ACOG, and ACMG.
- Guidelines recommend screening for Caucasians of European or Ashkenazi-Jewish descent.
- Defined criteria for inclusion in cystic fibrosis mutation panels.
Conclusions:
- The new recommendations represent a landmark in systematic genetic disease screening.
- Future technological advances are expected to reduce screening costs.
- Ongoing evaluation of these guidelines will be crucial as clinical applications evolve.
Abstract:
The importance of the recent recommendations that address cystic fibrosis carrier screening cannot be overemphasized. For the first time, a systematic approach to offering or making screening available to all pregnant women in the hopes of providing refined risk estimates for a genetic disease has been established. Caucasian of European or Ashkenazi-Jewish descent should be offered screening. Within the proposed guidelines are ethnic-specific carrier frequencies (1/29) used to establish who should be offered testing and to whom testing should be made available. Recent recommendations have made clear that in a pan-ethnic population a frequency of 1/1,000 is required for inclusion into the cystic fibrosis mutation panel. A general framework for screening during pregnancy has been established (either concurrent or sequential). It will be interesting to watch as the fruits of the human genome project are inspected and applied to everyday clinical practice. No doubt the cost of screening will be reduced through advances in technology. The combined efforts of NIH, ACOG, and ACMG have provided the first set of comprehensive standards for screening of recessive diseases. How time changes these guidelines deserves following.