Abstract
Non-invasive techniques to diagnose genetic disease have advanced rapidly in recent years and include prenatal diagnosis for fetal aneuploidy and single gene disorders, and early screening and diagnosis for people affected by cancer and diabetes. In this chapter we consider some of the key ethical issues arising as a result of this new technology. We highlight how non-invasive testing offers a number of significant benefits to patients including safe and early testing. Issues that have been raised as concerns include the erosion of informed decision-making, pressure to test, testing for non-medical reasons or for information only and the broader societal impact that the widespread introduction of non-invasive testing may have. These are issues that should be considered when developing practice guidelines.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS (1997) Presence of fetal DNA in maternal plasma and serum. Lancet 350(9076):485–487
Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27(1):1–7
Lo YM, Zhang J, Leung TN, Lau TK, Chang AM, Hjelm NM (1999) Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 64(1):218–224
Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G, Daniels G, Chitty LS (2011) Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 80(1):68–75
Daniels G, Finning K, Martin P, Massey E (2009) Noninvasive prenatal diagnosis of fetal blood group phenotypes: current practice and future prospects. Prenat Diagn 29(2):101–107
Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, Pajkrt E, Cole TJ (2011) New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol 37(3):283–289
Hill M, Barret AN, White H, Chitty LS (2012) Uses of cell free fetal DNA in maternal circulation. Best Pract Res Clin Obstet Gynaecol 26(5):639–654
Lench N, Barrett A, Fielding S, McKay F, Hill M, Jenkins L, White H, Chitty LS (2013) The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: challenges and progress made. Prenat Diagn 33:555–562
Boon EM, Faas BM (2013) Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat Diagn 33(6):563–568
Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, Nicolaides KH (2013) Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol 41(1):21–25
Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 119(5):890–901
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K (2012) Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 207(2):137.e1–137.e8
Agarwal A, Sayres LC, Cho MK, Cook-Deegan R, Chandrasekharan S (2013) Commercial landscape of noninvasive prenatal testing in the United States. Prenat Diagn 33(6):521–531
Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A (2013) Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn 33(7):662–666
Pan M, Li FT, Li Y, Jiang FM, Li DZ, Lau TK, Liao C (2013) Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat Diagn 33(6):598–601
Searle CJ, Smith K, Daniels G, Maher EJ, Quarrell O (2013) Cell-free fetal DNA sex determination identified a maternal SRY gene with a known X chromosome deletion. Prenat Diagn 33(6):612–613
Osborne CM, Hardisty E, Devers P, Kaiser-Rogers K, Hayden MA, Goodnight W, Vora NL (2013) Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn 33(6):609–611
Kooij L, Tymstra T, Berg P (2009) The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA. Prenat Diagn 29(2):164–168
Lewis C, Silcock C, Chitty LS (2013) Non-invasive prenatal testing for Down’s syndrome – pregnant women’s views and likely uptake. Public Health Genomics 16(5):223–232
Tischler R, Hudgins L, Blumenfeld YJ, Greely HT, Ormond KE (2011) Noninvasive prenatal diagnosis: pregnant women’s interest and expected uptake. Prenat Diagn 13:1292–1299
Lewis C, Hill M, Chitty L (2014) Non-invasive prenatal diagnosis for single gene disorders: experience of patients. Clin Genet. 85:336–42
Lewis C, Hill M, Skirton H, Chitty LS (2012) Non-invasive prenatal diagnosis for fetal sex determination – benefits and disadvantages from the service users’ perspective. Eur J Hum Genet 20(11):1127–1133
Kelly SE, Farrimond HR (2012) Non-invasive prenatal genetic testing: a study of public attitudes. Public Health Genomics 15(2):73–81
Hill M, Compton C, Lewis C, Skirton H, Chitty LS (2012) Determination of fetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom. Haemophilia 18(4):575–583
Hill M, Karunaratna M, Lewis C, Forya F, Chitty L (2013) Views and preferences for the implementation of non-invasive prenatal diagnosis for single gene disorders from health professionals in the United Kingdom. Am J Med Genet A 161A(7):1612–1618
Rantanen E, Hietala M, Kristoffersson U, Nippert I, Schmidtke J, Sequeiros J, Kääriäinen H (2008) What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet 16(4):445–452
Sayres LC, Allyse M, Norton ME, Cho MK (2011) Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenat Diagn 31(11):1070–1076
van den Heuvel A, Chitty L, Dormandy E, Newson A, Deans Z, Attwood S, Haynes S, Marteau TM (2009) Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Educ Couns 78(1):24–28
Benn PA, Chapman AR (2009) Practical and ethical considerations of noninvasive prenatal diagnosis. JAMA 301(20):2154–2156
de Jong A, Dondorp WJ, de Die-Smulders CE, Frints SG, de Wert GM (2010) Non-invasive prenatal testing: ethical issues explored. Eur J Hum Genet 18(3):272–277
de Jong A, Dondorp WJ, Frints SG, de Die-Smulders CE, de Wert GM (2011) Advances in prenatal screening: the ethical dimension. Nat Rev Genet 12(9):657–663
de Jong A, Dondorp WJ, Frints SG, de Die-Smulders CE, de Wert GM (2011) Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment. Hum Reprod 26(11):2915–2917
Deans Z, Hill M, Chitty LS, Lewis C (2013) Non-invasive prenatal testing for single gene disorders: exploring the ethics. Eur J Hum Genet 21(7):713–718
Deans Z, Newson AJ (2011) Should non-invasiveness change informed consent procedures for prenatal diagnosis? Health Care Anal 19(2):122–132
Hall A, Bostanci A, Wright CF (2010) Non-invasive prenatal diagnosis using cell-free fetal DNA technology: applications and implications. Public Health Genomics 13(4):246–255
Skirton H, Patch C (2013) Factors affecting the clinical use of non-invasive prenatal testing: a mixed methods systematic review. Prenat Diagn 33(6):532–541
Isaacs D (2003) Moral status of the fetus: fetal rights or maternal autonomy? J Paediatr Child Health 39(1):58–59
Marteau TM, Dormandy E, Michie S (2001) A measure of informed choice. Health Expect 4(2):99–108
Beauchamp T, Childress J (2008) Principles of biomedical ethics. Oxford University Press, Oxford
O’Neil O (2002) Autonomy and trust in bioethics. Cambridge University Press, Cambridge
Newson AJ (2008) Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med 13(2):103–108
AGNC Association Genetic Nurses and Counsellors: code of Ethics. Retrieved 8 July 2013, from http://www.agnc.org.uk/about-us/code-of-ethics/
Nicolaides KH (2011) Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 31(1):7–15
van den Berg M, Timmermans DR, Ten Kate LP, van Vugt JM, van der Wal G (2005) Are pregnant women making informed choices about prenatal screening? Genet Med 7(5):332–338
Hill M, Fisher J, Chitty LS, Morris S (2012) Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests. Genet Med 14(11):905–913
Skirton H, Goldsmith L, Jackson L, Lewis C, Chitty L (2013) Offering prenatal diagnostic tests – European guidelines for clinical practice. Eur J Hum Genet 22(5):580–586
Wright CF, Burton H (2009) The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update 15(1):139–151
Guetta E (2006) Noninvasive detection of fetal sex: the laboratory diagnostician’s view. Prenat Diagn 26(7):635–636
Greely HT (2011) Get ready for the flood of fetal gene screening. Nature 469(7330):289–291
Kobelka C, Mattman A, Langlois S (2009) An evaluation of the decision-making process regarding amniocentesis following a screen-positive maternal serum screen result. Prenat Diagn 29(5):514–519
Kuhse H (1999) Preventing genetic impairments: does it discriminate against people with disabilities? In: Thompson AK, Chadwick RF (eds) Genetic information: access, acquisition, and control. Kluwer Academic/Plenum Publishing, New York
Fan HC, Gu W, Wang J, Blumenfeld YJ, El-Sayed YY, Quake SR (2012) Non-invasive prenatal measurement of the fetal genome. Nature 487(7407):320–324
Lo YM, Chan KC, Sun H, Chen EZ, Jiang P, Lun FM, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RW (2010) Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2((61):61ra91
Snyder MW, Simmons LE, Kitzman JO, Santillan DA, Santillan MK, Gammill HS, Shendure J (2013) Noninvasive fetal genome sequencing: a primer. Prenat Diagn 33(6):547–554
Daley R, Hill M, Lewis C, Chitty LS (2014) Non-invasive prenatal testing for Down’s syndrome – where are we now? Br J Midwifery 22(2):85–93
Morris S, Karlsen S, Chung N, Hill M, Chitty L (2014) Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down’s syndrome using cell free fetal DNA in the UK National Health Service. PLoS One 9:e93559
Gahan PB (2012) Biology of circulating nucleic acids and possible roles in diagnosis and treatment in diabetes and cancer. Infect Disord Drug Targets 12(5):360–370
Mouliere F, Thierry AR (2012) The importance of examining the proportion of circulating DNA originating from tumor, microenvironment and normal cells in colorectal cancer patients. Expert Opin Biol Ther 12(Suppl 1):S209–S215
Shaw JA, Page K, Blighe K, Hava N, Guttery D, Ward B, Brown J, Ruangpratheep C, Stebbing J, Payne R, Palmieri C, Cleator S, Walker RA, Coombes RC (2012) Genomic analysis of circulating cell-free DNA infers breast cancer dormancy. Genome Res 22(2):220–231
Tamir S (2010) Direct-to-consumer genetic testing: ethical-legal perspectives and practical considerations. Med Law Rev 18(2):213–238
Skirton H, Goldsmith L, Jackson L, O'Connor A (2012) Direct to consumer genetic testing: a systematic review of position statements, policies and recommendations. Clin Genet 82(3):210–218
Acknowledgements
Part of the work presented here was funded by the National Institute for Health Research (NIHR) Programme Grants for Applied Research (RP-PG-0707–10107). LSC is partially funded by the Great Ormond Street Hospital Children’s Charity; the NIHR comprehensive Biomedical Research Centre at University College London Hospitals NHS Foundation Trust and University College London. The funders have had no role in any aspect of study design, collection, analysis or interpretation, or in the writing of the report and decision to submit for publication. The research funded is independent, and the views expressed in the article are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2015 Springer Science+Business Media Dordrecht
About this chapter
Cite this chapter
Lewis, C., Chitty, L.S. (2015). Societal Aspects: Ethics. In: Gahan, P. (eds) Circulating Nucleic Acids in Early Diagnosis, Prognosis and Treatment Monitoring. Advances in Predictive, Preventive and Personalised Medicine, vol 5. Springer, Dordrecht. https://doi.org/10.1007/978-94-017-9168-7_14
Download citation
DOI: https://doi.org/10.1007/978-94-017-9168-7_14
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-94-017-9167-0
Online ISBN: 978-94-017-9168-7
eBook Packages: MedicineMedicine (R0)