Conclusion

Cystic fibrosis represents an extremely heterogeneous disease that affects most major organ systems. In addition, our knowledge of the disease mechanisms and genetics makes CF one of the most understood complex diseases at all fundamental levels. CF carrier screening is the first clinically recommended DNA screening program in the United States. In addition to diagnostic and technical challenges, our ability to provide quality education for health care providers and patients with respect to the nuances of genetic testing will determine future progress in carrier screening analyses.

Fig. 5. The NanoChip workstation and CF data output (Nanogen Inc., San Diego, CA).

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