Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67:117-133. Abstract
Knowles MR, Drumm M. The influence of genetics on cystic fibrosis phenotypes. Cold Spring Harb Perspect Med. 2012;2:1-13.
Quon BS, Rowe SM. New and emerging targeted therapies for cystic fibrosis. BMJ. 2016;352:i859.
Wang Y, Wrennall JA, Cai Z, et al. Understanding how cystic fibrosis mutations disrupt CFTR function: from single molecules to animal models. Int J Biochem Cell Biol. 2014;52:47-57. Abstract
Ferec C, Cutting GR. Assessing the disease-liability of mutations in CFTR. Cold Spring Harb Perspect Med. 2012;2:a009480.
Clinical and Functional TRanslation of CFTR (CFTR2) website. http://cftr2.org. Accessed September 1, 2017.
Costa C, Pruliere-Escabasse V, de Becdelievre A, et al. A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical Nat Rev Genet practice. J Cyst Fibros. 2011;10:479-482. Abstract
Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. 2015;16:45-56. Abstract
Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 2011;365:1663-1672. Abstract
Kalydeco® [package insert]. Boston, MA: Vertex Pharmaceuticals Incorporated; 2017.
Moss RB, Flume PA, Elborn JS, et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial. Lancet Respir Med. 2015;3:524-533. Abstract
Rowe SM, Heltshe SL, Gonska T, et al. Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. Am J Respir Crit Care Med. 2014;190:175-184. Abstract
Yousef S, Solomon GM, Brody A, et al. Improved clinical and radiographic outcomes after treatment with ivacaftor in a young adult with cystic fibrosis with the P67L CFTR mutation. Chest. 2015;147:e79-e82. Abstract
Orkambi® [package insert]. Boston, MA: Vertex Pharmaceuticals Incorporated; 2016.
Wainwright CE, Elborn JS, Ramsey BW, et al. Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med. 2015;373:220-231. Abstract
Konstan MW, McKone EF, Moss RB, et al. Assessment of safety and efficacy of long-term treatment with combination lumacaftor and ivacaftor therapy in patients with cystic fibrosis homozygous for the F508del-CFTR mutation (PROGRESS): a phase 3, extension study. Lancet Respir Med. 2017;5:107-118. Abstract
Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066-1073. Abstract
Corvol H, Thompson KE, Tabary O, et al. Translating the genetics of cystic fibrosis to personalized medicine. Transl Res. 2016;168:40-49. Abstract
Salvatore D, Buzzetti R, Baldo E, et al. An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea. J Cyst Fibros. 2011;10:71-85. Abstract
McKone EF, Goss CH, Aitken ML. CFTR genotype as a predictor of prognosis in cystic fibrosis. Chest. 2006;130:1441-1447. Abstract
Brennan ML, Schrijver I. Cystic fibrosis: a review of associated phenotypes, use of molecular diagnostic approaches, genetic characteristics, progress, and dilemmas. J Mol Diagn. 2016;18:3-14. Abstract
Konstan MW, Butler SM, Wohl ME, et al. Growth and nutritional indexes in early life predict pulmonary function in cystic fibrosis. J Pediatr. 2003;142:624-630. Abstract
Adherence to long-term therapies: evidence for action. Geneva. World Health Organization, 2003. ISBN 92 4 154599 2,
Quittner AL, Goldbeck L, Abbott J, et al. Prevalence of depression and anxiety in patients with cystic fibrosis and parent caregivers: results of The International Depression Epidemiological Study across nine countries. Thorax. 2014;69:1090-1097. Abstract
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Medscape, LLC, encourages Authors to identify investigational products or off-label uses of products regulated by the US Food and Drug Administration, at first mention and where appropriate in the content.

Moderator

Manu Jain, MD, MS

Professor of Medicine and Pediatrics; Director, Adult Cystic Fibrosis Program, Northwestern University, Chicago, Illinois

Disclosures

Disclosure: Manu Jain, MD, MS, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: AbbVie Inc.; Gilead Sciences, Inc.; Vertex Pharmaceuticals Incorporated
Served as a speaker or a member of a speakers bureau for: Gilead Sciences, Inc.; Vertex Pharmaceuticals Incorporated

Dr Jain does not intend to discuss off-label uses of drugs, mechanical devices, biologics, or diagnostics approved by the FDA for use in the United States.

Dr Jain does not intend to discuss investigational drugs, mechanical devices, biologics, or diagnostics not approved by the FDA for use in the United States.

Panelist

Steven M. Rowe, MD, MSPH

Professor of Medicine; Director, Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham

Disclosures

Disclosure: Steven M. Rowe, MD, MSPH, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: AbbVie Inc.; Bayer HealthCare Pharmaceuticals; Celtaxsys; Novartis Pharmaceuticals Corporation; PTC Therapeutics; Vertex Pharmaceuticals Incorporated
Received grants for clinical research from: Bayer HealthCare Pharmaceuticals; Celtaxsys; Galapagos; Nivalis Therapeutics; Novartis Pharmaceuticals Corporation; PTC Therapeutics; Vertex Pharmaceuticals Incorporated

Dr Rowe does intend to discuss off-label uses of drugs, mechanical devices, biologics, or diagnostics approved by the FDA for use in the United States.

Dr Rowe does intend to discuss investigational drugs, mechanical devices, biologics, or diagnostics not approved by the FDA for use in the United States.

Author

Nicola Felicetti, MSN, RN

Adult Cystic Fibrosis Program Nurse Coordinator, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire

Disclosures

Disclosure: Nicola Felicetti, MSN, RN, has disclosed no relevant financial relationships.

Ms Felicetti does not intend to discuss off-label uses of drugs, mechanical devices, biologics, or diagnostics approved by the FDA for use in the United States.

Ms Felicetti does not intend to discuss investigational drugs, mechanical devices, biologics, or diagnostics not approved by the FDA for use in the United States.

Editor

Karen Badal, MD, MPH

Scientific Director, Medscape, LLC

Disclosures

Disclosure: Karen Badal, MD, MPH, has disclosed no relevant financial relationships.

CME Reviewer/Nurse Planner

Amy Bernard, MS, BSN, RN-BC

Lead Nurse Planner, Medscape, LLC

Disclosures

Disclosure: Amy Bernard, MS, BSN, RN-BC, has disclosed no relevant financial relationships.

Peer Reviewer

This activity has been peer reviewed and the reviewer has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: Genentech, Inc.; Gilead Sciences, Inc.; Novartis Pharmaceuticals Corporation

CME / ABIM MOC / CE

Precision Medicine in Cystic Fibrosis: Integrating the Genetics of CFTR

Authors: Manu Jain, MD, MS; Steven M. Rowe, MD, MSPH; Nicola Felicetti, MSN, RN
CME / ABIM MOC / CE Released: 9/25/2017
THIS ACTIVITY HAS EXPIRED FOR CREDIT
Valid for credit through: 9/25/2018

Start Activity

Target Audience and Goal Statement

This activity is intended for pulmonologists, pediatricians, gastroenterologists, and nurses.

The goal of this activity is to increase awareness regarding the effect of cystic fibrosis transmembrane regulator (CFTR) genetic mutations on cystic fibrosis (CF) presentation and phenotype and how genetic information can be used to inform treatment strategies.

Upon completion of this activity, participants will:

Have increased knowledge regarding the relationship between CFTR genotype and CF phenotype
Have greater competence related to treatment strategies for CF based on mutation status

Disclosures

Moderator

Manu Jain, MD, MS

Professor of Medicine and Pediatrics; Director, Adult Cystic Fibrosis Program, Northwestern University, Chicago, Illinois

Disclosures

Disclosure: Manu Jain, MD, MS, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: AbbVie Inc.; Gilead Sciences, Inc.; Vertex Pharmaceuticals Incorporated
Served as a speaker or a member of a speakers bureau for: Gilead Sciences, Inc.; Vertex Pharmaceuticals Incorporated

Dr Jain does not intend to discuss off-label uses of drugs, mechanical devices, biologics, or diagnostics approved by the FDA for use in the United States.

Dr Jain does not intend to discuss investigational drugs, mechanical devices, biologics, or diagnostics not approved by the FDA for use in the United States.

Panelist

Steven M. Rowe, MD, MSPH

Professor of Medicine; Director, Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham

Disclosures

Disclosure: Steven M. Rowe, MD, MSPH, has disclosed the following relevant financial relationships:
Served as an advisor or consultant for: AbbVie Inc.; Bayer HealthCare Pharmaceuticals; Celtaxsys; Novartis Pharmaceuticals Corporation; PTC Therapeutics; Vertex Pharmaceuticals Incorporated
Received grants for clinical research from: Bayer HealthCare Pharmaceuticals; Celtaxsys; Galapagos; Nivalis Therapeutics; Novartis Pharmaceuticals Corporation; PTC Therapeutics; Vertex Pharmaceuticals Incorporated

Dr Rowe does intend to discuss off-label uses of drugs, mechanical devices, biologics, or diagnostics approved by the FDA for use in the United States.

Dr Rowe does intend to discuss investigational drugs, mechanical devices, biologics, or diagnostics not approved by the FDA for use in the United States.

Author

Nicola Felicetti, MSN, RN

Adult Cystic Fibrosis Program Nurse Coordinator, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire

Disclosures

Disclosure: Nicola Felicetti, MSN, RN, has disclosed no relevant financial relationships.

Ms Felicetti does not intend to discuss off-label uses of drugs, mechanical devices, biologics, or diagnostics approved by the FDA for use in the United States.

Ms Felicetti does not intend to discuss investigational drugs, mechanical devices, biologics, or diagnostics not approved by the FDA for use in the United States.

Editor

Karen Badal, MD, MPH

Scientific Director, Medscape, LLC

Disclosures

Disclosure: Karen Badal, MD, MPH, has disclosed no relevant financial relationships.

CME Reviewer/Nurse Planner

Amy Bernard, MS, BSN, RN-BC

Lead Nurse Planner, Medscape, LLC

Disclosures

Disclosure: Amy Bernard, MS, BSN, RN-BC, has disclosed no relevant financial relationships.

Peer Reviewer

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This activity is designed to be completed within the time designated on the title page; physicians should claim only those credits that reflect the time actually spent in the activity. To successfully earn credit, participants must complete the activity online during the valid credit period that is noted on the title page. To receive AMA PRA Category 1 Credit™, you must receive a minimum score of 75% on the post-test.

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From Medscape Education Pulmonary Medicine

CME / ABIM MOC / CE

Precision Medicine in Cystic Fibrosis: Integrating the Genetics of CFTR

Authors: Manu Jain, MD, MS; Steven M. Rowe, MD, MSPH; Nicola Felicetti, MSN, RNFaculty and Disclosures

THIS ACTIVITY HAS EXPIRED FOR CREDIT

CME / ABIM MOC / CE Released: 9/25/2017

Valid for credit through: 9/25/2018

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Educational Impact Challenge

The goal of this activity is to increase awareness regarding the effect of CFTR genetic mutations on CF presentation and phenotype, and how genetic information can be used to inform treatment strategies.

Before you begin this activity, please assess your clinical knowledge by completing this brief survey. Answering these questions again after the activity will allow you to see what you learned and to compare your answers with those of your peers.

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CME / ABIM MOC / CE Information Download Slides

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The educational activity presented above may involve simulated case-based scenarios. The patients depicted in these scenarios are fictitious and no association with any actual patient is intended or should be inferred.

The material presented here does not necessarily reflect the views of Medscape, LLC, or companies that support educational programming on medscape.org. These materials may discuss therapeutic products that have not been approved by the US Food and Drug Administration and off-label uses of approved products. A qualified healthcare professional should be consulted before using any therapeutic product discussed. Readers should verify all information and data before treating patients or employing any therapies described in this educational activity.

References

Faculty and Disclosures

Moderator

Manu Jain, MD, MS

Panelist

Steven M. Rowe, MD, MSPH

Author

Nicola Felicetti, MSN, RN

Editor

Karen Badal, MD, MPH

CME Reviewer/Nurse Planner

Amy Bernard, MS, BSN, RN-BC

Peer Reviewer

CME / ABIM MOC / CE

Precision Medicine in Cystic Fibrosis: Integrating the Genetics of CFTR

Target Audience and Goal Statement

Disclosures

Moderator

Manu Jain, MD, MS

Panelist

Steven M. Rowe, MD, MSPH

Author

Nicola Felicetti, MSN, RN

Editor

Karen Badal, MD, MPH

CME Reviewer/Nurse Planner

Amy Bernard, MS, BSN, RN-BC

Peer Reviewer

Accreditation Statements

For Physicians

For Nurses

Instructions for Participation and Credit

Precision Medicine in Cystic Fibrosis: Integrating the Genetics of CFTR

Educational Impact Challenge