References

Adewoyin AS. Management of sickle cell disease: a review for physician education in Nigeria (Sub-Saharan Africa). Anemia. 2015; https://doi.org/10.1155/2015/791498

Barr JA, Skirton H. Informed decision making regarding antenatal screening for fetal abnormality in the United Kingdom: a qualitative study of parents and professionals. Nursing and Health Sciences. 2013; 15:(3)318-325 https://doi.org/10.1111/nhs.12034

Barr JA, Tsai LP, Welch A, Faradz SM, Lame-Krebs K, Howie V, Hillman W. Current practice for genetic counselling by nurses: an integrative review. International Journal of Nursing Practice. 2018; 24:(2) https://doi.org/10.1111/ijn.12629

Barrett AN, McDonnell TC, Chan KC, Chitty LS. Digital PCR analysis of maternal plasma for non-invasive detection of sickle cell anaemia. Clinical Chemistry. 2012; 58:(6)1026-1032 https://doi.org/10.1373/clinchem.2011.178939

Barrett AN, Saminathan R, Choolani M. Thalassaemia screening and confirmation of carriers in parents. Best Practice and Research Clinical Obstetrics and Gynaecology. 2017; 39:27-40 https://doi.org/10.1016/j.bpobgyn.2016.10.015

Berstein B. Class, codes and control vol II: applied studies towards a sociology of language.London: Routledge and Kegan Paul; 1973

Blake A, Asnani V, Leger RR, Harrus J, Odesina V, Hemmings DL, Morris DA, Knight-Madden J, Wagner L, Asnani MR. Stigma and uncertainty: adding to the burden of sickle cell disease. Hematology. 2018; 23:(2)122-130 https://doi.org/10.1080/10245332.2017.1359898

Cappellini MD, Cohen A, Eleftheriou A. Psychological Support in Thalassaemia. Guidelines for the management of thalassaemia, 2nd edn. Nicosia (CY): Thalassaemia International Federation; 2008

Cappellini MD, Porter JB, Viprakasit V, Taher AT. A paradigm shift on beta-thalassaemia treatment: how will we manage this old disease with new therapies?. Blood Reviews. 2018; 32:(4)300-311 https://doi.org/10.1016/j.blre.2018.02.001

Chenery-Morris S. Grading student midwives' practice: a case study exploring relationships, identity and authority.: Doctoral dissertation submitted to the University of East Anglia; 2017

Deans Z, Hill M, Chitty LS, Lewis C. Non-invasive prenatal testing for single gene disorders: exploring the ethics. European Journal of Human Genetics. 2013; 21:(7)713-718 https://doi.org/10.1038/ejhg.2012.250

Galanello R. Screening and diagnosis for haemoglobin disorders. Prevention of thalassaemias and other haemoglobinn disorders.Nicosia: Cyprus; 2013

Gilbert Welch H, Schwartz LM, Woloshin S. Overdiagnosed: making people sick in the pursuit of health. 2011; 121:(8) https://doi.org/10.1172/JCI57171

Goffman E. Stigma: notes on the management of spoiled identity.London: Penguin; 1963

Harper P. Practical genetic counselling, 7 edn. London: Routledge; 2010

Haywood C, Tranbe P, Naik R. The impact of race and disease on sickle cell patient wait times in the emergency department. American Journal of Emergency Medicine. 2013; 31:(4)651-656 https://doi.org/10.1016/j.ajem.2012.11.005

Hill M, Compton C, Karunaratna M, Lewis C, Chitty L. Client views and attitudes to non-invasive prenatal diagnosis for sickle cell disease, thalassaemia and cystic fibrosis. Journal of Genetic Counselling. 2014; 23:(6)1012-1021 https://doi.org/10.1007/s10897-014-9725-4

Jegede AS. African culture and health.Lagos: Stirling-Horden Publishers Nigeria Limited; 1998

Karetti M, Yardumian A, Karetti D, Modell B. Informing carriers of ß-thalassaemia: giving the good news. Genetic Testing. 2004; 8:(2)245-249 https://doi.org/10.1089/gte.2004.8.109

Khuse H, Singer P. Should the baby live? Problem of handicapped infants (studies in Bioethics).London: Oxford Paperbacks; 1985

Kirk M, Tonkin E, Skirton H. An iterative consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK. Journal of Advanced Nursing. 2013; 70:(2)405-420 https://doi.org/10.1111/jan.12207

Kirk M. Introduction to genetics and genomics: a revised framework for nurses. Nursing Standard. 2013; 28:(8)37-41 https://doi.org/10.7748/ns2013.10.28.8.37.e7466

Kirkham M. Exploring the dirty side of women's health.London: Routledge; 2006

Martin L, Hutton EK, Gitsels-van der Wal JT, Spelten ER, Kuiper F, Pereboom MTR, van Dulmen S. Antenatal counselling for congenital anomaly tests: an exploratory video-observational study about client-midwife communication. Midwifery. 2015; 31:(1)37-45 https://doi.org/10.1016/j.midw.2014.05.004

Martin L, Gitsels-van der Wal G, Pereboom MT, Spelten ER, Hutton EK, van Dulmen S. Clients' psychosocial communication and midwives' verbal and nonverbal communication during prenatal counselling for anomaly screening. Patient Education and Counselling. 2016; 99:85-91 https://doi.org/10.1016/j.pec.2015.07.020

Mayo-Gamble TL, Barnes PA, Cunningham Erves J, Middlestadt SE, Lin HC. ‘It means everyone should know their status’: exploring lay conceptions of sickle cell trait and sickle cell trait screening among African Americans within middle reproductive age. Ethnicity and Health. 2017; 23:(7)813-829 https://doi.org/10.1080/13557858.2017.1295135

McCartney M. The patient paradox: why sexed up medicine is bad for your health.London: Pinter and Martin; 2012

NHS England. Round table discussion: Health Education England's Genomics Education Programme Nursing and Midwifery. 2019a. https://www.genomicseducation.hee.nhs.uk/wp-content/uploads/2019/06/Genomics-nursing-midwifery-Report-May-2019.pdf (accessed 8 November 2019)

NHS National Genetics and Genomics Education Centre. Sickle cell anaemia. Genomic education programme. 2019. https://www.genomicseducation.hee.nhs.uk/resources/genetic-conditions-factsheets/item/86-sickle-cell-anaemia/ (accessed 12 June 2019)

Nuffield Council on Bioethics. Genome editing: an ethical review. 2016. http://nuffieldbioethics.org/wp-content/uploads/Genome-editing-an-ethical-review.pdf (accessed 12 June 2019)

Nuffield Council on Bioethics. Non-invasive prenatal testing: ethical issues. 2017. http://nuffieldbioethics.org/wp-content/uploads/NIPT-ethical-issues-full-report.pdf (accessed 8 November 2019)

African and Caribbean people's attitude to sickle cell and the risk of having a child with sickle cell anaemia. Doctoral thesis written for the University of Surrey. 2007. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.505104

NHS sickle cell and thalassaemia screening programme. Handbook for antenatal laboratories.London: NHS; 2017

NHS Public health functions agreement 2018–2019. Service specification no 18 NHS sickle cell and thalassaemia screening programme.London: PHE; 2018

Sickle cell and thalassaemia screening: information for adult haemoglobinopathy carriers. You are a beta thalassaemia carrier.London: PHE; 2018a

Raffle AE, Mackie A, Muir Gray JA. Screening evidence and practice, 2nd edn. Oxford: Oxford University Press; 2019

Amniocentesis and chorionic villus sampling (green-top guidelines no 8).London2010

Ribeil JA, Hacein-Bay-Abina S, Payen E, Magnani A, Semeraro M, Magrin E, Caccavelli L, Neven B, Bourget P, Nermer WE, Bartolucci P, Weber L, Puy H, Meritet JF, Grevent D, Beuzard Y, Chrétien S, Lefebvre T, Ross RW, Negre O, Veres G, Sandler L, Soni S, de Montalembert M, Blanche S, Leboulch P, Cavazzana M. Gene therapy in a patient with sickle cell disease. New England Journal of Medicine. 2017; 376:848-855 https://doi.org/10.1056/NEJMoa1609677

RCN Competencies. Caring for people with sickle cell disease and thalassemia syndromes. A framework for nursing staff.London2011

Stillwell D. Helping couples fulfill the “highest of life's goals”: Mate selection, marriage counselling and genetic counselling in the United States. Journal of Genetic Counselling. 2016; 25:(1)157-165 https://doi.org/10.1007/s10897-015-9853-5

Taher AT, Weatherall DJ, Cappellini MD. Thalassaemia. Lancet. 2018; 391:155-167 https://doi.org/10.1016/S0140-6736(17)31822-6

Timmermans S, Buchbinder M. Saving babies?. The consequences of newborn genetic screening. 2012; 41:(3–4) https://doi.org/10.25336/P66P5N

Traeger-Synodinos J. Pre-implantation genetic diagnosis. Best Practice and Research Clinical Obstetrics and Gynaecology. 2017; 39:74-88 https://doi.org/10.1016/j.bpobgyn.2016.10.010

Screening in the UK: making effective recommendations.London: NHS; 2018

Ware RE, de Montalembert M, Tshilolo L, Abboud MR. Sickle cell disease. Lancet. 2017; 390:311-323 https://doi.org/10.1016/S0140-6736(17)30193-9

Recognition of sickle cell anaemia as a public health problem. 63rd World Health Assembly.Geneva: Switzerland; 2010

Genetic risk assessment and haemoglobinopathy counselling: two case studies

02 December 2019
Case Study
02 December 2019
Volume 27 · Issue 12

Abstract

Background

The author works as an antenatal and newborn (ANNB) screening coordinator in a hospital designated as an area of low prevalence for sickle cell and thalassaemia (SCT). As such, the opportunity for an ANNB coordinator to gain competency in prenatal counselling of individuals with SCT is limited.

Method

Two case studies are used to demonstrate social, cultural and ethical issues arising from counselling individuals with SCT.

Findings

Information regarding genetic risk and haemoglobinopathy status can be threatening for individuals and families, as well as transforming, depending on the context in which information is provided.

The role of the antenatal and newborn (ANNB) coordinator is to work as part of a team to deliver the six ANNB programmes commissioned by the NHS, with oversight and quality assurance provided by Public Health England (PHE). One of these programmes is the Sickle Cell and Thalassaemia (SCT) screening programme (PHE, 2018). In order to have assurance of safety and quality, PHE have a mandatory requirement for all ANNB coordinators to undertake genetic risk assessment and counselling training. While educational and sociological debates exist regarding the pedagogic discourse of knowledge transmission (Berstein, 1973) and how competency and performance in midwifery practice can be assessed (Chenery-Morris, 2017), two reflective counselling episodes are used to demonstrate how ANNB coordinators can meet the requirements of the Royal College of Nursing ([RCN], 2011) SCT competency framework. This framework ensures high quality counselling and engagement in shared decision making with individuals and families. This is especially important when the opportunity for ANNB coordinators to engage and gain confidence in genetic and haemoglobinopathy counselling on a regular basis is limited.

Register now to continue reading

Thank you for visiting British Journal of Midwifery and reading some of our peer-reviewed resources for midwives. To read more, please register today. You’ll enjoy the following great benefits:

What's included

  • Limited access to our clinical or professional articles

  • New content and clinical newsletter updates each month

Register
Or continue by

Signing in with your registered email address

Sickle cell and thalassaemia
Haemoglobinopathy screening
Genetic counselling
Antenatal and newborn screening coordinator