Abstract
Newborn screening (NBS) for cystic fibrosis (CF) provides the opportunity for cascade carrier testing of relatives. Uptake of testing by adult non-parent relatives of children diagnosed with CF through NBS has not been previously described, and this study describes uptake by both parents and adult non-parent relatives in Victoria, Australia. Pedigrees were taken from parents of children who were born in 2000–2004 and diagnosed with CF. A total of 40 families were eligible for the study and 30 (75%) were recruited. In all, 716 non-parent relatives were identified from the pedigrees as eligible for carrier testing, and 82 (adjusted uptake percentage: 11.8%; 95% confidence interval 8.0–15.7) have had carrier testing by March 2009. On average, 2.7 non-parent relatives per family had CF carrier testing after diagnosis through NBS. The odds of being tested were greater for females than males (adjusted odds ratio 1.61; 95% confidence interval 1.11–2.33; P=0.01) and greater for those more closely related to the child with CF (adjusted odds ratio 5.17; 95% confidence interval 2.38–11.24; P<0.001). Most relatives who undergo testing are tested immediately after the baby's diagnosis; however, some testing is undertaken up to 8 years later. These results indicate that in a clinical setting, the diagnosis of a baby with CF by NBS does not lead to carrier testing for the majority of the baby's non-parent relatives. We suggest re-contact with parents to offer cascade carrier testing.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Southern KW, Munck A, Pollitt R et al: A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 2007; 6: 57–65.
O'Sullivan BP, Freedman SD : Cystic fibrosis. Lancet 2009; 373: 1891–1904.
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.
National Institutes of Health: Consensus development conference statement on genetic testing for cystic fibrosis. Arch Intern Med 1999; 159: 1529–1539.
American Society of Human Genetics: Statement of the American Society of Human Genetics on cystic fibrosis carrier screening. Am J Hum Genet 1992; 51: 1443–1444.
Super M, Schwarz MJ, Malone G, Roberts T, Haworth A, Dermody G : Active cascade testing for carriers of cystic fibrosis gene. BMJ 1994; 308: 1462–1467.
Sorenson JR, Cheuvront B, DeVellis B et al: Acceptance of home and clinic-based cystic fibrosis carrier education and testing by first, second, and third degree relatives of cystic fibrosis patients. Am J Med Genet 1997; 70: 121–129.
Turner G, Meagher W, Willis C, Colley P : Cascade testing for carrier status in cystic fibrosis in a large family. Med J Aust 1993; 159: 163–165.
Lafayette D, Abuelo D, Passero MA, Tantravahi U : Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis. J Genet Couns 1999; 8: 17–36.
Surh LC, Cappelli M, MacDonald NE, Mettler G, Dales RE : Cystic fibrosis carrier screening in a high-risk population. Participation based on a traditional recruitment process. Arch Pediatr Adolesc Med 1994; 148: 632–637.
Massie J, Clements B : Diagnosis of cystic fibrosis after newborn screening: the Australasian experience--twenty years and five million babies later: a consensus statement from the Australasian Paediatric Respiratory Group. Pediatr Pulmonol 2005; 39: 440–446.
Human Genetics Society of Australasia Genetic Services Committee: Cystic fibrosis population screening position paper. 2009; http://www.hgsa.com.au/images/UserFiles/Attachments/CysticFibrosisPositionPaper.pdf.
Massie RJ, Olsen M, Glazner J, Robertson CF, Francis I : Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989–1998). Med J Aust 2000; 172: 584–587.
Parsons EP, Bradley DM : Psychosocial issues in newborn screening for cystic fibrosis. Paediatr Respir Rev 2003; 4: 285–292.
Lagoe E, Labella S, Arnold G, Rowley PT : Cystic fibrosis newborn screening: a pilot study to maximize carrier screening. Genet Test 2005; 9: 255–260.
Oliver S, Dezateux C, Kavanagh J, Lempert T, Stewart R : Disclosing to parents newborn carrier status identified by routine blood spot screening. Cochrane Database Syst Rev 2004: CD003859.
Sawyer SM, Glazner JA : What follows newborn screening? An evaluation of a residential education program for parents of infants with newly diagnosed cystic fibrosis. Pediatrics 2004; 114: 411–416.
Hanley JA, Negassa A, Edwardes MD, Forrester JE : Statistical analysis of correlated data using generalized estimating equations: an orientation. Am J Epidemiol 2003; 157: 364–375.
Ghisletta P, Spini D : An introduction to generalized estimating equations and an application to assess selectivity effects in a longitudinal study on very old individuals. J Educ Behav Stat 2004; 29: 421–437.
d'Agincourt-Canning L, Baird P : Genetic testing for hereditary cancers: the impact of gender on interest, uptake and ethical considerations. Crit Rev Oncol Hematol 2006; 58: 114–123.
Sonnappa S, Prescott K, Adler B, Dinwiddie R, Wallis C : Cystic fibrosis and Russell-Silver syndrome in a child with maternal isodisomy of chromosome 7. Pediatr Pulmonol 2005; 40: 166–168.
Dequeker E, Stuhrmann M, Morris MA et al: Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet 2009; 17: 51–65.
Comeau AM, Accurso FJ, White TB et al: Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report. Pediatrics 2007; 119: e495–e518.
Parsons EP, Clarke AJ, Bradley DM : Implications of carrier identification in newborn screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 2003; 88: F467–F471.
Denayer L, Evers-Kiebooms G, De Boeck K, Van den Berghe H : Reproductive decision making of aunts and uncles of a child with cystic fibrosis: genetic risk perception and attitudes toward carrier identification and prenatal diagnosis. Am J Med Genet 1992; 44: 104–111.
Fanos JH, Johnson JP : Barriers to carrier testing for adult cystic fibrosis sibs: the importance of not knowing. Am J Med Genet 1995; 59: 85–91.
Ormond KE, Mills PL, Lester LA, Ross LF : Effect of family history on disclosure patterns of cystic fibrosis carrier status. Am J Med Genet C Semin Med Genet 2003; 119: 70–77.
Forrest LE, Curnow L, Delatycki MB, Skene L, Aitken M : Health first, genetics second: exploring families' experiences of communicating genetic information. Eur J Hum Genet 2008.
Denayer L, De Boeck K, Evers-Kiebooms G, Van den Berghe H : The transfer of information about genetic transmission to brothers and sisters of parents with a CF-child. Birth Defects Orig Artic Ser 1992; 28: 149–158.
Newson AJ, Humphries SE : Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 2005; 13: 401–408.
Cody N, Green A, McDevitt T, Lynch SA : Cascade screening in BRCA1/2 mutation carriers. Ir Med J 2008; 101: 140–142.
Suthers GK, Armstrong J, McCormack J, Trott D : Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 2006; 43: 665–670.
Forrest LE, Burke J, Bacic S, Amor DJ : Increased genetic counseling support improves communication of genetic information in families. Genet Med 2008; 10: 167–172.
Sawyer SM, Cerritelli B, Carter LS, Cooke M, Glazner JA, Massie J : Changing their minds with time: a comparison of hypothetical and actual reproductive behaviors in parents of children with cystic fibrosis. Pediatrics 2006; 118: e649–e656.
Dudding T, Wilcken B, Burgess B, Hambly J, Turner G : Reproductive decisions after neonatal screening identifies cystic fibrosis. Arch Dis Child Fetal Neonatal Ed 2000; 82: F124–F127.
Evers-Kiebooms G, Denayer L, Van den Berghe H : A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis. Clin Genet 1990; 37: 207–215.
Mischler EH, Wilfond BS, Fost N et al: Cystic fibrosis newborn screening: impact on reproductive behavior and implications for genetic counseling. Pediatrics 1998; 102: 44–52.
Jedlicka-Kohler I, Gotz M, Eichler I : Utilization of prenatal diagnosis for cystic fibrosis over the past seven years. Pediatrics 1994; 94: 13–16.
Acknowledgements
We thank Ms Amanda Sherwen and the staff at the CF clinic at the Royal Children's Hospital for assistance with recruiting participants, and Dr Sharon Lewis, Murdoch Childrens Research Institute, for valuable comments on this paper. Obioha Ukoumunne is supported by the Australian NH&MRC Capacity Building Grant 436914.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no conflict of interest.
Rights and permissions
About this article
Cite this article
McClaren, B., Metcalfe, S., Aitken, M. et al. Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening. Eur J Hum Genet 18, 1084–1089 (2010). https://doi.org/10.1038/ejhg.2010.78
Received:
Revised:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1038/ejhg.2010.78
Keywords
This article is cited by
-
Cystic fibrosis in Tuscany: evolution of newborn screening strategies over time to the present
Italian Journal of Pediatrics (2021)
-
Exploring approaches to facilitate family communication of genetic risk information after cystic fibrosis population carrier screening
Journal of Community Genetics (2018)
-
Psychosocial Distress and Knowledge Deficiencies in Parents of Children in Ireland Who Carry an Altered Cystic Fibrosis Gene
Journal of Genetic Counseling (2018)
-
“Suddenly Having two Positive People who are Carriers is a Whole New Thing”‐ Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population‐Based Carrier Screening Program in Australia
Journal of Genetic Counseling (2015)
-
Attitudes and opinions of pregnant women who are not offered cystic fibrosis carrier screening
European Journal of Human Genetics (2014)
