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Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition

  • Genetic Counseling and Clinical Testing (BS LeRoy and N Callanan, Section Editors)
  • Published:
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Abstract

Purpose of Review

This manuscript reviews developments in the diagnosis and treatment of cystic fibrosis (CF) and addresses the impact on families.

Recent Findings

Once the classic example of a single-gene, autosomal recessive, life-shortening condition, CF and related disorders are now known to form a phenotypic spectrum with genetic etiology rooted in more than 2000 known variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This spectrum encompasses asymptomatic newborns and adult-diagnosed individuals in addition to classically diagnosed infants and children. Advances in variant-specific therapies are driving research and clinical agendas.

Summary

Nearly two decades of CF carrier, prenatal, and newborn screening have contributed to knowledge and understanding of genotypic and phenotypic diversity, generating new diagnostic terminology and unique resources, such as the CFTR2 database. Advanced cellular-level treatments are clinically available and under further development. Patients and families are collaborating with their clinical and research teams to improve care and drive research forward.

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Authors and Affiliations

  1. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 733 N. Broadway, MRB 553, Baltimore, MD, 21287, USA

    Karen S. Raraigh

  2. Division of Molecular and Human Genetics, Nationwide Children’s Hospital, 700 Children’s Drive, Genetics TH2G, Columbus, OH, 43205, USA

    Matthew T. Pastore

  3. Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43205, USA

    Matthew T. Pastore

  4. Happy Heart Families, 2620 Bellevue Way NE #146, Bellevue, WA, 98004, USA

    Lisa Greene

  5. Johns Hopkins DNA Diagnostic Laboratory, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 1812 Ashland Ave, Suite 200, Baltimore, MD, 21287, USA

    Barbara A. Karczeski

  6. Genetic Counseling Department, Windsong Health Medical Alliance, 55 Spindrift Drive, Williamsville, NY, 14221, USA

    Laura K. Fisher

  7. Center for Clinical and Translational Research, Seattle Children’s Research Institute, 2001 8th Avenue, Suite 400, Seattle, WA, 43205, USA

    Bonnie W. Ramsey

  8. Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA

    Bonnie W. Ramsey

  9. The Cystic Fibrosis Center, Mount Sinai Beth Israel, Icahn School of Medicine at Mount Sinai, 1st Ave at 16th St, New York, NY, 10003, USA

    Elinor Langfelder-Schwind

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  1. Karen S. Raraigh
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  2. Matthew T. Pastore
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  3. Lisa Greene
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  4. Barbara A. Karczeski
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  5. Laura K. Fisher
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  7. Elinor Langfelder-Schwind
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Correspondence to Elinor Langfelder-Schwind.

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Conflict of Interest

Karen Raraigh reports grants from the Cystic Fibrosis Foundation, Vertex Pharmaceuticals, and Sequenom, outside of the submitted work.

Barbara Karczeski is employed by a laboratory offering fee-for-service testing for the condition discussed in this article.

Bonnie Ramsey, as the former director of the Cystic Fibrosis Foundation Therapeutics Development Network, received grants or contracts administered through Seattle Children’s Research Institute with Vertex Pharmaceuticals within the past 36 months.

All other authors declare no conflicts of interest.

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This article does not contain any studies with human or animal subjects performed by any of the authors.

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This article is part of the Topical Collection on Genetic Counseling and Clinical Testing

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Raraigh, K.S., Pastore, M.T., Greene, L. et al. Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition. Curr Genet Med Rep 5, 91–99 (2017). https://doi.org/10.1007/s40142-017-0122-9

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