Journal of Genetic Counseling

, Volume 22, Issue 2, pp 218–225 | Cite as

Who Counsels Parents of Newborns Who Are Carriers of Sickle Cell Anemia or Cystic Fibrosis?

  • Kathryn L. Moseley
  • Samya Z. Nasr
  • Jane L. Schuette
  • Andrew D. Campbell
Original Research

Abstract

Our objective was to describe: 1) physicians’ knowledge of whether genetic counseling is provided to parents of newborns with sickle cell trait (SCT) or who are cystic fibrosis carriers (CFC), and 2) the prevalence of genetic counseling provided by primary care physicians. We conducted a cross-sectional descriptive survey of 600 randomly-sampled Michigan-based pediatricians and family physicians, assessing physician knowledge of where and whether genetic counseling is received by parents whose newborns are carriers. Chi-squared testing determined associations between genetic counseling location and physician demographic characteristics. Our response rate was 62 %: 298 (84 %) provided infant well care (183 pediatricians, 115 family physicians). Most respondents were non-Hispanic White (65 %). Virtually all physicians believed parents whose newborns are carriers of either SCT or CFC should receive some genetic counseling (from the physician and/or another source), yet 20 % reported that parents of newborns with SCT did not receive counseling. Parents of infants with CFC received more counseling overall (92 % vs. 80 %; p < 0.01) and were counseled more frequently by genetic counselors or specialty centers than parents of newborns with SCT (85 % vs. 60 %; p < 0.01). Although physicians agreed that parents whose newborns are carriers should receive genetic counseling, fewer parents of newborns with SCT than with CFC received counseling from any source. This finding strongly suggests the need for further education and investigation of this apparent health disparity.

Keywords

Newborn screening Genetic counseling Sickle cell trait Cystic fibrosis 

Abbreviations

SCD

Sickle cell disease

CF

Cystic fibrosis

SCT

Sickle cell trait

CFC

Cystic fibrosis carrier

NCAA

National Collegiate Athletic Association

PCP

Primary care physician

References

  1. American College of Medical Genetics (2006). Newborn Screening ACT Sheet: Sickle Cell Carrier (Trait) (Hb AS).Google Scholar
  2. American College of Medical Genetics. (2010). Newborn screening ACT sheet: [Elevated IRT +/− DNA] Cystic Fibrosis.Google Scholar
  3. American Medical Association. (2012). Physician data resources: Physician masterfile. http://www.ama-assn.org/ama/pub/about-ama/physician-data-resources/physician-masterfile.page. Accessed March 13 2012.
  4. Centers for Disease Control and Prevention. (2004). Newborn screening for cystic fibrosis:evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR, 53(RR-13), 1–44.Google Scholar
  5. Kark, J. A., Posey, D. M., Schumacher, H. R., & Ruehle, C. J. (1987). Sickle-cell trait as a risk factor for sudden death in physical training. N Engl J Med, 317(13), 781–787. doi:10.1056/NEJM198709243171301.PubMedCrossRefGoogle Scholar
  6. Kemper, A. R., Uren, R. L., Moseley, K. L., & Clark, S. J. (2006). Primary care physicians' attitudes regarding follow-up care for children with positive newborn screening results. Pediatrics, 118(5), 1836–1841.PubMedCrossRefGoogle Scholar
  7. Kleyn, M., VanOchten, K., Grigorescu, V., & Young, W. (2009). Sickle cell disease in Michigan. Michigan Newborn Screening Follow-Up Brief. In Newborn Screening Follow-up Program (Ed.), (Vol. 1, pp. 2). Lansing, MI: Michigan Department of Community Health.Google Scholar
  8. Kleyn, M., VanOchten, K., Grigorescu, V., & Young, W. (2009). Sickle cell disease in Michigan in newborn screening follow-up program (Ed.), (Vol. 1). Lansing, MI: Michigan Department of Community Health.Google Scholar
  9. Kleyn, M., Korzeniewski, S., Grigorescu, V., Young, W., Homnick, D., Goldstein-Filbrun, A., et al. (2011). Predictors of insufficient sweat production during confirmatory testing for cystic fibrosis. Pediatr Pulmonol, 46(1), 23–30. doi:10.1002/ppul.21318.PubMedCrossRefGoogle Scholar
  10. Le Gallais, D., Bile, A., Mercier, J., Paschel, M., Tonellot, J. L., & Dauverchain, J. (1996). Exercise-induced death in sickle cell trait: role of aging, training, and deconditioning. Med Sci Sports Exerc, 28(5), 541–544.PubMedGoogle Scholar
  11. Mitchell, B. L. (2007). Sickle cell trait and sudden death–bringing it home. J Natl Med Assoc, 99(3), 300–305.PubMedGoogle Scholar
  12. National Collegiate Athletic Association. (2010). NCAA football rules committee 2009–2010 Point of Emphasis. http://www.ncaa.org/wps/portal/ncaahome?WCM_GLOBAL_CONTEXT=/ncaa/ncaa/academics+and+athletes/personal+welfare/health+and+safety/football+point+of+emphasis+sickle+cell+trait. Accessed July 28 2010.
  13. National Institutes of Health; National Heart Lung and Blood Institute. (2002). The Management of Sickle Cell Disease (4ed.).Google Scholar
  14. National Newborn Screening and Genetics Resource Center. (2010). National newborn screening status report. http://genes-r-us.uthscsa.edu/nbsdisorders.htm. Accessed May 27 2010.
  15. Tsaras, G., Owusu-Ansah, A., Boateng, F. O., & Amoateng-Adjepong, Y. (2009). Complications associated with sickle cell trait: a brief narrative review. The American Journal of Medicine, 122(6), 507–512. doi:10.1016/j.amjmed.2008.12.020.PubMedCrossRefGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2012

Authors and Affiliations

  • Kathryn L. Moseley
    • 1
  • Samya Z. Nasr
    • 2
  • Jane L. Schuette
    • 3
  • Andrew D. Campbell
    • 4
  1. 1.Department of Pediatrics and Communicable Diseases, Child Health Evaluation and Research Unit, Division of General Pediatrics, Mott Children’s HospitalUniversity of MichiganAnn ArborUSA
  2. 2.Department of Pediatrics and Communicable Diseases, Cystic Fibrosis Center, Division of Pediatric Pulmonology, Mott Children’s HospitalUniversity of MichiganAnn ArborUSA
  3. 3.Division of Pediatric Genetics, Department of Pediatrics and Communicable Diseases, Mott Children’s HospitalUniversity of MichiganAnn ArborUSA
  4. 4.Department of Pediatrics and Communicable Diseases, Pediatric Comprehensive Sickle Cell Program, Division of Pediatric Hematology/Oncology, Mott Children’s HospitalUniversity of MichiganAnn ArborUSA

Personalised recommendations