We use cookies to improve your experience. By continuing to browse this site, you accept our cookie policy.×
Skip main navigation
Aging Health
Bioelectronics in Medicine
Biomarkers in Medicine
Breast Cancer Management
CNS Oncology
Colorectal Cancer
Concussion
Epigenomics
Future Cardiology
Future Medicine AI
Future Microbiology
Future Neurology
Future Oncology
Future Rare Diseases
Future Virology
Hepatic Oncology
HIV Therapy
Immunotherapy
International Journal of Endocrine Oncology
International Journal of Hematologic Oncology
Journal of 3D Printing in Medicine
Lung Cancer Management
Melanoma Management
Nanomedicine
Neurodegenerative Disease Management
Pain Management
Pediatric Health
Personalized Medicine
Pharmacogenomics
Regenerative Medicine

Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status

    Sandra Janssens

    *Author for correspondence:

    E-mail Address: sandra.janssens@ugent.be

    Centre for Medical Genetics, Ghent University Hospital, Ghent, De Pintelaan 185, 9000 Ghent, Belgium

    ,
    Louiza Kalokairinou

    Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35 BOX 7001 3000 Leuven, Belgium

    ,
    Davit Chokoshvilli

    Centre for Medical Genetics, Ghent University Hospital, Ghent, De Pintelaan 185, 9000 Ghent, Belgium

    Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35 BOX 7001 3000 Leuven, Belgium

    ,
    Carmen Binst

    Department of Life Sciences & Medicine, University of Ghent, Ghent, Belgium

    ,
    Inge Mahieu

    Department of Life Sciences & Medicine, University of Ghent, Ghent, Belgium

    ,
    Lidewij Henneman

    Community Genetics Section, Department of Clinical Genetics, EMGO Institute for Health & Care Research, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands

    ,
    Anne De Paepe

    Centre for Medical Genetics, Ghent University Hospital, Ghent, De Pintelaan 185, 9000 Ghent, Belgium

    &
    Pascal Borry

    Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35 BOX 7001 3000 Leuven, Belgium

    Published Online:https://doi.org/10.2217/pme.14.75

    Background: An increasing number of direct-to-consumer (DTC) genetic testing companies have started offering tests for carrier status of autosomal recessive disorders. Materials & Methods: A written questionnaire was administered to 47 patients and 65 parents of children with Cystic Fibrosis (CF), a common severe autosomal recessive disorder, to assess their views about the offer of DTC carrier tests. All participants were recruited from a CF patient registry in Belgium. Results & Conclusion: We found that very few patients and parents were aware of the offer of DTC genetic testing for carrier status, and were generally skeptical. A strong preference for the healthcare system over commercial companies as the provider of the test was observed. However, many participants believe people should have a right to access DTC genetic tests provided by commercial companies.

    Papers of special note have been highlighted as: • of interest; •• of considerable interest

    References

    • 1 Rohlfs EM, Zhou Z, Heim RA et al. Cystic fibrosis carrier testing in an ethnically diverse US population. Clin. Chem. 57, 841–848 (2011).
    • 2 Riordan JR, Rommens JM, Kerem B et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066–1073 (1989).
    • 3 Human Genetics Commission. Increasing options, informing choice: a report on preconception genetic testing and screening. http://f.hypotheses.org/wp-content/blogs.dir/257/files/2011/04/2011.HGC_.-Increasing-options-informing-choice-final2.pdf.• Report describing the landscape of preconception carrier screening as well as outlines some of the important ethical issues in this context.
    • 4 National Institutes of Health. Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. Arch. Intern. Med. 159, 1529–1539 (1999).
    • 5 Cunningham F, Lewis S, Curnow L, Glazner J, Massie J. Respiratory physicians and clinic coordinators’ attitudes to population-based cystic fibrosis carrier screening. J. Cyst. Fibros. 13, 99–105 (2014).
    • 6 Borry P, Cornel MC, Howard HC. Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market. J. Community Genet. 1, 101–106 (2010).
    • 7 Human Genetics Commission. A common framework of principles for direct-to-consumer genetic testing services. www.sashg.org/documents/HGC-UK-Policy-on-DTC-testing.pdf.
    • 8 Howard HC, Borry P. Is there a doctor in the house? The presence of physicians in the direct-to-consumer genetic testing context. J. Community Genet. 3, 105–112 (2012).• Study revolving around the involvement of medical professionals in direct-to-consumer (DTC) genetic testing, which was one of the central points also in our survey.
    • 9 Hogarth S, Javitt G, Melzer D. The current landscape for direct-to-consumer genetic testing: legal, ethical, and policy issues. Annu. Rev. Genomics Hum. Genet. 9, 161–182 (2008).
    • 10 Caulfield T, McGuire AL. Direct-to-consumer genetic testing: perceptions, problems, and policy responses. Annu. Rev. Med. 63, 23–33 (2012).
    • 11 EASAC and FEAM. Direct-to-consumer genetic testing for health-related purposes in the European Union: the view from EASAC and FEAM. Policy Report, 18. www.easac.eu/home/reports-and-statements/detail-view/article/direct-to-co.html.•• Document focusing on policy/regulatory aspects of DTC genetic testing and pays great deal of attention to carrier screening through DTC.
    • 12 Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC. Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum. Reprod. 26, 972–977 (2011).•• Discusses many important issues related to direct-to-consumer genetic testing for reproductive purposes.
    • 13 Godard B, Raeburn S, Pembrey M, Bobrow M, Farndon P, Ayme S. Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur. J. Hum. Genet. 11(Suppl. 2), S123–S142 (2003).
    • 14 Finney Rutten LJ, Gollust SE, Naveed S, Moser RP. Increasing public awareness of direct-to-consumer genetic tests: health care access, internet use, and population density correlates. J. Cancer Epidemiol. 2012, 309109 (2012).
    • 15 Kolor K, Duquette D, Zlot A et al. Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice. Genet. Med. 14, 860–867 (2012).• Investigated awareness of DTC genetic tests among the general public. It may be interesting to compare results with the findings of our study.
    • 16 Goddard KA, Duquette D, Zlot A et al. Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006. Am. J. Public Health 99, 442–445 (2009).
    • 17 Vayena E, Gourna E, Streuli J, Hafen E, Prainsack B. Experiences of early users of direct-to-consumer genomics in Switzerland: an exploratory study. Public Health Genomics 15, 352–362 (2012).
    • 18 Bollinger JM, Green RC, Kaufman D. Attitudes about regulation among direct-to-consumer genetic testing customers. Genet. Test. Mol. Biomarkers 17, 424–428 (2013).
    • 19 McBride CM, Wade CH, Kaphingst KA. Consumers’ views of direct-to-consumer genetic information. Annu. Rev. Genomics Hum. Genet. 11, 427–446 (2010).
    • 20 Howard HC, Borry P. To ban or not to ban? Clinical geneticists’ views on the regulation of direct-to-consumer genetic testing. EMBO Rep. 13, 791–794 (2012).• Explored clinical geneticists’ views on issues similar to those discussed in the present paper.
    • 21 Bernhardt BA, Zayac C, Gordon ES, Wawak L, Pyeritz RE, Gollust SE. Incorporating direct-to-consumer genomic information into patient care: attitudes and experiences of primary care physicians. Per. Med. 9, 683–692 (2012).• Assessed primary care physicians’ attitudes toward some of the issues discussed in the present paper. More specifically, attitudes toward genetic counseling and information provision were explored.
    • 22 Hock KT, Christensen KD, Yashar BM, Roberts JS, Gollust SE, Uhlmann WR. Direct-to-consumer genetic testing: an assessment of genetic counselors’ knowledge and beliefs. Genet. Med. 13, 325–332 (2011).
    • 23 McGuire AL, Diaz CM, Wang T, Hilsenbeck SG. Social networkers’ attitudes toward direct-to-consumer personal genome testing. Am. J. Bioethics 9(6–7), 3–10 (2009).
    • 24 Almeling R, Gadarian SK. Public opinion on policy issues in genetics and genomics. Genet. Med. 16(6), 491–494 (2013).
    • 25 Henneman L, Bramsen I, Van Os TA et al. Attitudes towards reproductive issues and carrier testing among adult patients and parents of children with cystic fibrosis (CF). Prenat. Diagn. 21, 1–9 (2001).
    • 26 Kolor K, Liu T, St Pierre J, Khoury MJ. Health care provider and consumer awareness, perceptions, and use of direct-to-consumer personal genomic tests, United States, 2008. Genet. Med. 11, 595 (2009).
    • 27 Cherkas LF, Harris JM, Levinson E, Spector TD, Prainsack B. A survey of UK public interest in internet-based personal genome testing. PLoS ONE 5, e13473 (2010).
    • 28 Henneman L, Vermeulen E, van El CG, Claassen L, Timmermans DR, Cornel MC. Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010. Eur. J. Hum. Genet. 21, 793–799 (2013).
    • 29 Gollust SE, Gordon ES, Zayac C et al. Motivations and perceptions of early adopters of personalized genomics: perspectives from research participants. Public Health Genomics 15, 22–30 (2012).
    • 30 Brett GR, Metcalfe SA, Amor DJ, Halliday JL. An exploration of genetic health professionals’ experience with direct-to-consumer genetic testing in their clinical practice. Eur. J. Hum. Genet. 20, 825–830 (2012).• Although not limited to carrier testing, this paper investigated some relevant issues in DTC genetic testing.
    • 31 Borry P, Fryns JP, Schotsmans P, Dierickx K. Carrier testing in minors: a systematic review of guidelines and position papers. Eur. J. Hum. Genet. 14, 133–138 (2006).
    • 32 The British Society for Human Genetics. Report on the Genetic Testing of Children 2010. www.ethox.org.uk/Documents%20and%20images/GTOC_2010_BSHG.pdf.