Uptake of Carrier Testing in Families After Cystic Fibrosis Diagnosis Through Newborn Screening

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2010 Jun 1

PMID 20512163

Citations 10

Authors

Belinda J McClaren

Sylvia A Metcalfe

MaryAnne Aitken

R John Massie

Obioha C Ukoumunne

David J Amor

Affiliations

Soon will be listed here.

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.

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References

Riordan J, Rommens J, Kerem B, Alon N, Rozmahel R, Grzelczak Z . Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989; 245(4922):1066-73. DOI: 10.1126/science.2475911. View

Newson A, Humphries S . Cascade testing in familial hypercholesterolaemia: how should family members be contacted?. Eur J Hum Genet. 2005; 13(4):401-8. DOI: 10.1038/sj.ejhg.5201360. View

Lafayette D, Abuelo D, Passero M, 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. 2001; 8(1):17-36. DOI: 10.1023/a:1022830519602. View

Mischler E, Wilfond B, Fost N, Laxova A, Reiser C, Sauer C . Cystic fibrosis newborn screening: impact on reproductive behavior and implications for genetic counseling. Pediatrics. 1998; 102(1 Pt 1):44-52. DOI: 10.1542/peds.102.1.44. View

Dequeker E, Stuhrmann M, Morris M, Casals T, Castellani C, Claustres M . Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. Eur J Hum Genet. 2008; 17(1):51-65. PMC: 2985951. DOI: 10.1038/ejhg.2008.136. View

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; (4):CD003859. PMC: 11491188. DOI: 10.1002/14651858.CD003859.pub2. View

Ormond K, Mills P, Lester L, Ross L . Effect of family history on disclosure patterns of cystic fibrosis carrier status. Am J Med Genet C Semin Med Genet. 2003; 119C(1):70-7. DOI: 10.1002/ajmg.c.10008. View

Southern K, Munck A, Pollitt R, Travert G, Zanolla L, Dankert-Roelse J . A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros. 2006; 6(1):57-65. DOI: 10.1016/j.jcf.2006.05.008. View

Surh L, Cappelli M, MacDonald N, Mettler G, Dales R . Cystic fibrosis carrier screening in a high-risk population. Participation based on a traditional recruitment process. Arch Pediatr Adolesc Med. 1994; 148(6):632-7. DOI: 10.1001/archpedi.1994.02170060086017. View

10.

Hanley J, Negassa A, Edwardes M, Forrester J . Statistical analysis of correlated data using generalized estimating equations: an orientation. Am J Epidemiol. 2003; 157(4):364-75. DOI: 10.1093/aje/kwf215. View

11.

Parsons E, Clarke A, Bradley D . Implications of carrier identification in newborn screening for cystic fibrosis. Arch Dis Child Fetal Neonatal Ed. 2003; 88(6):F467-71. PMC: 1763227. DOI: 10.1136/fn.88.6.f467. View

12.

Super M, Schwarz M, Malone G, Roberts T, Haworth A, Dermody G . Active cascade testing for carriers of cystic fibrosis gene. BMJ. 1994; 308(6942):1462-7. PMC: 2540318. DOI: 10.1136/bmj.308.6942.1462. View

13.

Sawyer S, Glazner J . What follows newborn screening? An evaluation of a residential education program for parents of infants with newly diagnosed cystic fibrosis. Pediatrics. 2004; 114(2):411-6. DOI: 10.1542/peds.114.2.411. View

14.

Lagoe E, LaBella S, Arnold G, Rowley P . Cystic fibrosis newborn screening: a pilot study to maximize carrier screening. Genet Test. 2005; 9(3):255-60. DOI: 10.1089/gte.2005.9.255. View

15.

Sawyer S, Cerritelli B, Carter L, Cooke M, Glazner J, 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(3):e649-56. DOI: 10.1542/peds.2005-2551. View

16.

Massie R, Olsen M, Glazner J, Robertson C, Francis I . Newborn screening for cystic fibrosis in Victoria: 10 years' experience (1989-1998). Med J Aust. 2000; 172(12):584-7. DOI: 10.5694/j.1326-5377.2000.tb124123.x. View

17.

Sorenson J, Cheuvront B, DeVellis B, Callanan N, Silverman L, Koch G . 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(2):121-9. View

18.

. Statement of the American Society of Human Genetics on cystic fibrosis carrier screening. Am J Hum Genet. 1992; 51(6):1443-4. PMC: 1682904. View

19.

dAgincourt-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(2):114-23. DOI: 10.1016/j.critrevonc.2006.03.001. View

20.

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(1):104-11. DOI: 10.1002/ajmg.1320440124. View