Who Counsels Parents of Newborns Who Are Carriers of Sickle Cell Anemia or Cystic Fibrosis?
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.
KeywordsNewborn screening Genetic counseling Sickle cell trait Cystic fibrosis
Sickle cell disease
Sickle cell trait
Cystic fibrosis carrier
National Collegiate Athletic Association
Primary care physician
- American College of Medical Genetics (2006). Newborn Screening ACT Sheet: Sickle Cell Carrier (Trait) (Hb AS).Google Scholar
- American College of Medical Genetics. (2010). Newborn screening ACT sheet: [Elevated IRT +/− DNA] Cystic Fibrosis.Google Scholar
- 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.
- 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
- 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
- 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
- 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.
- National Institutes of Health; National Heart Lung and Blood Institute. (2002). The Management of Sickle Cell Disease (4ed.).Google Scholar
- 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.