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Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1049–1054 | Cite as

Pediatric and Adult Recommendations Vary for Sibling Testing in Cystic Fibrosis

  • Kimberly L. Brown
  • Patrick A. Flume
Original Research

Abstract

Four to 5 % of cystic fibrosis (CF) patients are diagnosed as adults and often have subtler symptoms. Their siblings are at genetic risk to also have a subtler disease state. Diagnostic testing is recommended for siblings of newly diagnosed infants, but recommendations are less clear for later diagnoses. This study explored sibling testing recommendations in pediatric and adult practice using a survey that was emailed to CF clinicians. There were 58 respondents. Results revealed that 82.5% of pediatric and 36.4% of adult care respondents reported always recommending diagnostic testing for siblings of a newly diagnosed patient. In adult care, another 33.3% reported recommending diagnostic testing if the sibling has symptoms. In pediatric care, whether the sibling had newborn screening was most influential. Most pediatric respondents prefer the sweat chloride test, while 40% in adult practice prefer familial mutation analysis. Perceived barriers included cost, insurance coverage and logistical concerns in both settings, parental emotional state in pediatrics, and concern making recommendations for someone who is not the patient in adult care. Genetic counselors may be able to meet familial needs in CF care, including sibling testing. Many newly diagnosed patients/families do not see a genetic counselor, especially in adult care. These data reveal opportunities for practice guidelines and standardization.

Keywords

Cystic fibrosis Genetic testing Family testing Genetic counseling Recommendations 

Abbreviations

CF

Cystic fibrosis

CFF

Cystic Fibrosis Foundation

CFF-LLC

Cystic Fibrosis Foundation Learning and Leadership Collaborative

DNA

Deoxyribonucleic acid

NBS

Newborn screening

Notes

Acknowledgments

Kimberly Brown and Patrick Flume conducted this research and authored this manuscript, and performed data analysis with the assistance of Suchit Kumbhare, M.B.B.S., M.S.

Compliance with Ethical Standards

Conflict of Interest

Kimberly L. Brown and Patrick A. Flume declare that they have no conflict of interest.

Human Studies and Informed Consent

This research was reviewed and approved by the Institutional Review Board at the Medical University of South Carolina. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. For this type of study, formal consent is not required.

Animal Studies

No animal studies were carried out by the authors for this article.

Supplementary material

10897_2018_220_MOESM1_ESM.docx (53 kb)
ESM 1 (DOCX 52 kb)

References

  1. Borry, P., Nys, H., & Dierickx, K. (2007). Carrier testing in minors: Conflicting views. Nature, 8, 828.Google Scholar
  2. Chawla, A., Turcotte, F. G., Usmani, K., & Kanu, A. C. (2010). When to suspect atypical cystic fibrosis. The Journal of Family Practice, 59, 509–513.PubMedGoogle Scholar
  3. Cystic Fibrosis Foundation (2015). Patient registry annual data report. Retrieved from https://www.cff.org/Our-Research/CF-Patient-Registry/2015-Patient-Registry-Annual-Data-Report.pdf.
  4. Farrell, P. M., Rosenstein, B. J., White, T. B., Accurso, F. J., Castellani, C., Gutting, G. R., et al. (2008). Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic fibrosis foundation consensus report. Journal of Pediatrics, 153, S4–S14.CrossRefGoogle Scholar
  5. Farrell, P. M., White, T. B., Ren, C. L., Hempstead, M. S., Accurso, F., & Derichs, N. (2017). Diagnosis of cystic fibrosis: Consensus guidelines from the cystic fibrosis foundation. Journal of Pediatrics, 181S, S4–S15.CrossRefGoogle Scholar
  6. Holland, B. S., & Copenhaver, M. D. (1988). Improved Bonferroni-type multiple testing procedures. American Psychological Association Inc. Psychological Bulletin, 104(1), 145–149.Google Scholar
  7. Rodman, D. M., Polis, J. M., Heltshe, S. L., Sontag, M. K., Chacon, C., Rodman, R. V., et al. (2004). Late diagnosis defines a unique population of long-term survivors of cystic fibrosis. American Journal of Respiratory and Critical Care Medicine, 171, 621–626.CrossRefGoogle Scholar
  8. Schram, C. A. (2012). Atypical cystic fibrosis identification in the primary care setting. Canadian Family Physician, 58, 1341–1345.PubMedPubMedCentralGoogle Scholar
  9. Storm, C., Agarwal, R., & Offit, K. (2008). Ethical and legal implications of cancer genetic testing: Do physicians have a duty to warn patients’ relatives about possible genetic risks? Journal of Oncology Practice, 4(5), 229–230.CrossRefGoogle Scholar
  10. The American College of Obstetricians and Gynecologists. (2011). ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstetrics and Gynecology, 117(4), 1028–1031.Google Scholar
  11. Watson, M. S., Cutting, G. R., Desnick, R. J., Driscoll, D. A., Klinger, K., Mennuti, M., et al. (2004). Cystic fibrosis population carrier screening: 2004 revision of the American college of medical genetics mutation panel. Genetics in Medicine, 6(5), 387–391.CrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  1. 1.Division of Pulmonary, Critical Care, Allergy and Sleep MedicineMedical University of South CarolinaCharlestonUSA

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