Following the recent UK NSC recommendation [1] to implement screening and testing for Edwards’ Syndrome and Patau’s Syndrome [2] into existing Down’s Syndrome screening programmes, [3] I am currently undertaking an ESRC-funded PhD project in Law at Swansea University that explores whether expectant parents are giving informed consent for NHS trisomy screening and testing.

The study is the first of its kind exploring the legal standard of consent and information disclosure in the context of trisomy screening and testing from the perception of both expectant parents and healthcare professionals, across England and Wales. With the implementation of non-invasive prenatal testing (NIPT) by the NHS in Wales in 2018, [4] and its anticipated implementation by the NHS in England, it only amplifies the need to explore this area.

With the recent decisions in Montgomery (2015) [5] and Mordel (2019) [6] recognising that current models of care are based on the patients’ right to self-determination and autonomy, this raised novel questions around the standard of informed consent and information disclosure for medical treatment and antenatal screening in the UK. This study’s primary aim is to correctly inform current policy standards and guidelines of the recent legal developments, and to spotlight potential areas for amendment or revision. It will also inform the training healthcare professionals receive on informed consent for trisomy screening and testing.

Personally, I have an interest in medical law, with a particular passion to improve the relationship between patient and professional under the evolving standard of consent. After completing my studies in this area, I found that it was under researched which motivated my personal interest to study it in greater depth.

With the introduction of screening for Edwards’ Syndrome and Patau’s Syndrome to the antenatal screening programmes across England and Wales, in addition to impending implementation of non-invasive prenatal testing (NIPT) as a method of screening by the NHS, I thought this would challenge the professional-patient relationship in the context of informed consent and choice, raising novel legal and ethical implications which required further exploration. [7]

Under the transforming trisomy screening and testing pathway, five themes have been identified which could leave healthcare professionals (HCPs) vulnerable to breaching current legal standards of consent, consequentially destructing patient autonomy. The themes identified are: the novel legal duties placed on HCPs when offering trisomy screening and testing under Montgomery (2015) and Mordel (2019); the discussion HCPs and expectant parents have on all three chromosomal conditions that are capable of being screened for under the amended pathway; the discussion on the current methods of screening and testing; [8] the introduction of NIPT as a method of screening onto the pathway [9] and ongoing professional training [10].

It is with this aim I am inviting healthcare professionals who perform a role on the NHS trisomy screening and testing pathway to kindly complete a 10-minute survey focusing on your experiences of informed consent in clinical practice. The link to the survey is located below. If you have any questions in relation to the study, please email me, Emyr Wile, at e.o.wile@swansea.ac.uk (lead researcher) or Professor Karen Morrow k.morrow@swansea.ac.uk (supervisor).

Please participate in the survey here: https://t.co/j4K5AMMXMz?amp=1

Deadline for the survey is September 30th, 2020.

[1]. UK NSC. First Trimester Combined Screening for Trisomy 13 and Trisomy 18. External review against programme appraisal criteria for the UK National Screening Committee (UK NSC), 2013, Version 5, pp.1-57.
[2]. Edwards’ Syndrome and Patau’s Syndrome are the second and third most commonly detected chromosomal condition behind Down’s Syndrome. These conditions are also referred to as Trisomy 21 (Down’s Syndrome), Trisomy 18 (Edwards’ Syndrome) and Trisomy 13 (Patau’s Syndrome).
[3]. All current methods of trisomy screening and testing are highlighted by; Public Health England – NHS Public Health Functions Agreement (2019-20). Service Specification No.16. NHS Fetal Anomaly Screening Programme – Screening for Down’s Syndrome, Edwards’ Syndrome and Patau’s Syndrome, available at: https://www.england.nhs.uk/wp-content/uploads/2017/04/Service-Specification-No.16-NHS_FASP_Trisomy_Screening.pdf; and; Antenatal Screening Wales Policy, Standards and Protocols 2019 – 7.0 and 8.0 Antenatal Screening for Down’s Syndrome, Edwards’ Syndrome and Patau’s Syndrome, available here.
[4]. Antenatal Screening Wales Policy, Standards and Protocols 2019 – 7.0 and 8.0 Antenatal Screening for Down’s Syndrome, Edwards’ Syndrome and Patau’s Syndrome, Standard 7.8 (pp.69-73) available here.
[5]. Montgomery v Lanarkshire Health Board (2015) UKSC 11, at para 87, available at: https://www.bailii.org/uk/cases/UKSC/2015/11.html.
[6]. Mordel v Royal Berkshire NHS Foundation Trust (2019) EWHC 2591 (QB), at para 133-152, available at: https://www.bailii.org/ew/cases/EWHC/QB/2019/2591.html.
[7]. van den Heuvel A, Chitty L, Dormandy E, Newson A, Deans Z, Attwood S, Haynes S, Marteau TM, “Will the introduction of noninvasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals”, Patient Educ Couns, 2009, 78; pp.24–28.
[8]. Caroline Silcock, Lih-Mei Liao, Melissa Hill, Lyn S. Chitty, “Will the Introduction of Non-invasive Prenatal Testing for Down’s Syndrome Undermine Informed Choice?”, International Journal of Public Participation in Health Care and Health Policy, 2015 Oct; 18(5): 1658-1672, and; Alexandra Cernat, Chante De Freitas, Umair Majid, Forum Trivedi, Caroline Higgins and Meredith Vanstone, “Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women’s experiences”, BMC Pregnancy and Childbirth, 2019, 19:27, at pp.10-11.
[9]. Zuzana Deans, Melissa Hill, Lyn S Chitty, and Celine Lewis, “Non-invasive prenatal testing for single gene disorders: exploring the ethics”, European Journal of Human Genetics. 2013 Jul; 21(7): 713-8.
[10]. Elizabeth Alexander, Susan Kelly, Lauren Kerzin-Storrar, “Non-invasive prenatal testing: UK genetic counselors’ experiences and perspectives”, Journal of Genetic Counseling, 2015, 24(2), 300-311.
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