Direct-to-consumer Carrier Screening for Cystic Fibrosis Via a Hospital Website: a 6-year Evaluation

Overview

Journal J Community Genet

Publisher Springer

Specialty Health Services

Date 2018 Sep 20

PMID 30229537

Citations 3

Authors

Kim C A Holtkamp

Lidewij Henneman

Johan J P Gille

Hanne Meijers-Heijboer

Martina C Cornel

Phillis Lakeman

Affiliations

Soon will be listed here.

Abstract

A Dutch university hospital started offering cystic fibrosis (CF) carrier screening directly to consumers (DTC) through their website in 2010. A 6-year process evaluation was conducted to evaluate the offer. Screening was implemented as intended. However, uptake was lower than expected. Forty-four tests have been requested, partly by couples with a positive family history for CF, which was not the intended target group. Users were generally positive about the screening offer, citing accessibility, ease of testing, anonymity, and perceived shortcomings of regular healthcare as reasons for requesting screening. DTC CF carrier screening via a university hospital website is feasible, but is seldom used. Considering technological advances, continuation of this specific offer is questionable.

Citing Articles

Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.

Ont Health Technol Assess Ser. 2023; 23(4):1-398.

PMID: 37637488 PMC: 10453298.

Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review.

Richardson E, McEwen A, Newton-John T, Crook A, Jacobs C Eur J Hum Genet. 2022; 30(7):756-765.

PMID: 35347269 PMC: 9259674. DOI: 10.1038/s41431-022-01090-1.

Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer.

van Dijke I, Lakeman P, Sabiri N, Rusticus H, Ottenheim C, Mathijssen I Eur J Hum Genet. 2021; 29(8):1252-1258.

PMID: 34155360 PMC: 8384865. DOI: 10.1038/s41431-021-00923-9.

References

Hulscher M, Laurant M, Grol R . Process evaluation on quality improvement interventions. Qual Saf Health Care. 2003; 12(1):40-6. PMC: 1743654. DOI: 10.1136/qhc.12.1.40. View

Henneman L, Bramsen I, van Kempen L, van Acker M, Pals G, van der Horst H . Offering preconceptional cystic fibrosis carrier couple screening in the absence of established preconceptional care services. Community Genet. 2003; 6(1):5-13. DOI: 10.1159/000069540. View

Saunders R, Evans M, Joshi P . Developing a process-evaluation plan for assessing health promotion program implementation: a how-to guide. Health Promot Pract. 2005; 6(2):134-47. DOI: 10.1177/1524839904273387. View

McClaren B, Delatycki M, Collins V, Metcalfe S, Aitken M . 'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet. 2007; 16(4):435-44. DOI: 10.1038/sj.ejhg.5201965. View

Lakeman P, Plass A, Henneman L, Bezemer P, Cornel M, Ten Kate L . Three-month follow-up of Western and non-Western participants in a study on preconceptional ancestry-based carrier couple screening for cystic fibrosis and hemoglobinopathies in the Netherlands. Genet Med. 2008; 10(11):820-30. DOI: 10.1097/GIM.0b013e318188d04c. View

Lakeman P, Plass A, Henneman L, Bezemer P, Cornel M, ten Kate L . Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation?. Eur J Hum Genet. 2009; 17(8):999-1009. PMC: 2986548. DOI: 10.1038/ejhg.2009.1. View

Zlotogora J, Israeli A . A comprehensive screening program for cystic fibrosis. Isr Med Assoc J. 2009; 11(9):555-7. View

Castellani C, Picci L, Tamanini A, Girardi P, Rizzotti P, Assael B . Association between carrier screening and incidence of cystic fibrosis. JAMA. 2009; 302(23):2573-9. DOI: 10.1001/jama.2009.1758. View

Castellani C, Macek Jr M, Cassiman J, Duff A, Massie J, Ten Kate L . Benchmarks for cystic fibrosis carrier screening: a European consensus document. J Cyst Fibros. 2010; 9(3):165-78. DOI: 10.1016/j.jcf.2010.02.005. View

10.

Maxwell S, Kyne G, Molster C, Barker N, Ormsby J, OLeary P . Perceptions of population cystic fibrosis prenatal and preconception carrier screening among individuals with cystic fibrosis and their family members. Genet Test Mol Biomarkers. 2011; 15(3):159-64. DOI: 10.1089/gtmb.2010.0121. View

11.

Borry P, Henneman L, Lakeman P, Ten Kate L, Cornel M, Howard H . Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod. 2011; 26(5):972-7. PMC: 3079469. DOI: 10.1093/humrep/der042. View

12.

. ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011; 117(4):1028-1031. DOI: 10.1097/AOG.0b013e31821922c2. View

13.

Borry P, Cornel M, Howard H . Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market. J Community Genet. 2011; 1(3):101-106. PMC: 3063844. DOI: 10.1007/s12687-010-0023-z. View

14.

Beaudet A . Carrier screening for cystic fibrosis. Am J Hum Genet. 1990; 47(4):603-5. PMC: 1683791. View

15.

Skirton H, Goldsmith L, Jackson L, OConnor A . Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations. Clin Genet. 2012; 82(3):210-8. DOI: 10.1111/j.1399-0004.2012.01863.x. View

16.

Janssens S, De Paepe A, Borry P . Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature. J Community Genet. 2013; 5(1):13-29. PMC: 3890063. DOI: 10.1007/s12687-012-0131-z. View

17.

Massie J, Delatycki M . Cystic fibrosis carrier screening. Paediatr Respir Rev. 2013; 14(4):270-5. DOI: 10.1016/j.prrv.2012.12.002. View

18.

Ioannou L, McClaren B, Massie J, Lewis S, Metcalfe S, Forrest L . Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research. Genet Med. 2013; 16(3):207-16. DOI: 10.1038/gim.2013.125. View

19.

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

20.

Massie J, Ioannou L, Delatycki M . Prenatal and preconception population carrier screening for cystic fibrosis in Australia: where are we up to?. Aust N Z J Obstet Gynaecol. 2014; 54(6):503-9. DOI: 10.1111/ajo.12255. View