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PAPERS: Bernadette Modell, Rodney Harris, Beverley Lane, Maren Khan, Matthew Darlison, Mary Petrou, John Old, Mark Layton, and Lysandros Varnavides Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry BMJ 2000; 320: 337-341 [Abstract] [Full text]

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What does it mean for clients to have informed choice?

W Eboh, O van den Akker   (11 February 2000)

Haemoglobinopathy Screening in General Practice

Jane Logan   (22 February 2000)

Reply to Eboh and van den Akker

Bernadette Modell   (3 March 2000)

What does it mean for clients to have informed choice? 11 February 2000
W Eboh, Lecturer/Senior Lecturer:Research Fellow Robert Gordon University, O van den Akker Send response to journal: Re: What does it mean for clients to have informed choice?	The term 'informed choice' in screening programs, implies a process whereby clients receives sufficient information about a testing procedure and possible implications to enable them to give a truly informed consent to the procedure (1). However, even when information is readily available this decision making process can be influenced by cultural norms, extended families being part of this decision making process and the clients understanding of risk (2). Modell et al in this paper makes no mention of any of the above factors and instead uses uptake of prenatal diagnosis and number of affected births as the only measure to gauge quality of service provision. It's ironic that the focus was on two communities, Cypriot and Pakistani communities who are at opposite ends of the spectrum if population awareness of thalassaemia were to be compared. It is well documented that the Cypriot population has had in existence education programs to control the numbers of births of thalassaemic babies for years, the opposite situation is said to exist in Pakistan. This means that even if a Cypriot couple is not offered screening, it is likely that they will ask for it because of their pre-existing knowledge (3), and not necessarily because of the information provided by a health professional. There is little doubt that first trimester identification of a fetus affected by thalassaemia, especially for Muslim clients who will not permit testing and subsequent termination of a pregnancy after 'soul- breathing' (120 days or 17 weeks) is by far the best option (4). Greater pressure needs to be exerted on NHS Trusts to implement better screening policies to ensure that where possible at risk couples are tested in early pregnancy. Equally, those at the forefront of providing counseling such as midwives and nurses should have a basic understanding of what is available for these clients and how it impacts on them and their families (1). However, even good knowledge of these disorders amongst health professionals does not necessarily equate to a willingness to provide counselling. There is evidence to suggest that midwives are not always willing to give information about prenatal diagnosis, because it was felt that specialist nurses who have the expertise (5) should undertake this. It is interesting that counselling records held by haemoglobinopathy nurses were not used to gaether data about information provided to couples. Although many of the points made in this article are valid, one cannot base a whole audit of a service in this area on uptake of prenatal diagnosis. References 1. Denton J. Genetics Special: Inheriting an ethical dilemma. Nursing Standard. 11 (29): 22-3, 1997 2. Marteau TM, Kidd J, Cook R, Michie S, Johnston M, Slack J, et al. Perceived risk not actual risk predicts uptake of amniocentesis. British Journal of Obstetrics and Gynaecology, 98: 282-6, 1991 3. Gill PS. Modell B. Thalassaemia in Britain: a tale of two communities. Births are rising among British Asians but falling in Cypriots. British Journal of Medicine, 317(716): 761-2, 1998 4. Mohammed SH. Genetic counselling among Muslims: questions remain unanswered. Lancet, 350(9083): 1035-36, 1997 5. Eboh W. van den Akker O. Is it realistic to expect midwives to take up health promotion in the area of haemoglobinopathies? Abstract of papers presented at the 18th Annual Conference: Journal of Reproductive and Infant Psychology, 16(4): 238, 1998
Haemoglobinopathy Screening in General Practice 22 February 2000
Jane Logan Send response to journal: Re: Haemoglobinopathy Screening in General Practice	Editor - We note from Modell, Harris1 et al that only half the couples at risk received a service that allowed them an informed choice with wide variation by region and ethnic group, and that for informed choice to be translated into the practical reality of a prenatal diagnostic procedure, this needs to be undertaken within the first trimester. In general practice the window of opportunity is small, as many mothers will not present for confirmation of pregnancy until after their second missed period. Even with timely electrophoresis, if the woman is found to be a carrier it is necessary then to find and persuade her partner to come for testing. To overcome these time constraints, this practice offers all men and women haemoglobinopathy screening based on their self perception of risk. Screening is undertaken at a registration check and opportunistically within the practice with both pre and post test counselling. We are supported in this work by using an APOGI CD Rom2 developed by the Department of Primary Care and Population Sciences at RFH and UCL which provides accessible genetic information to both patient and clinician, and publicity materials. We have shown that this service is acceptable to patients with high uptake in appropriate ethnic groups and a high attendance at follow up visits for the giving of results and a haemoglobinopathy card. The results are readily available on the computer screen and in the GP record. Any patients found to carry a significant trait are advised to present early should they or their partner become pregnant for antenatal care. Preconceptional haemoglobinopathy testing removes some of the additional anxiety for the patient in early pregnancy by identifying "risk" earlier and allows more time to organise prenatal diagnosis should it be necessary. Our practice is recognised as a Beacon3 practice for this service. We would be happy to share our experience with other professionals and provide them with free CD Roms to facilitate this. Dr Jane Logan general practitioner with an interest in haemoglobinopathy screening. Mawbey Brough Health Centre, 39, Wilcox Close, London, SW8 2UD Mawbeygp@dircon.co.uk 1 Bernadette Modell, Rodney Harris, Beverley Lane, Maren Khan, Matthew Darlison, Mary Petrou, John Old, Mark Layton, Lysandros Varnavides. 'Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry' 2 Department of Primary Care and Population Sciences, RFH and UCL Schools of Medicine, Archway Resource Centre, Whittington Hospital, Highgate Hill, London N19 5NF, UK. 3 The NHS Beacon Services Programme is managed on behalf of the NHS Executive by Status Meetings Ltd, Tel: 01730 235014, Beacon Visit Programme, PO Box 82, Petersfield, GU31 4XH.
Reply to Eboh and van den Akker 3 March 2000
Bernadette Modell Send response to journal: Re: Reply to Eboh and van den Akker	Before responding to Eboh and van den Akker's comments on our report from the Thalassaemia module of the National Confidential Enquiry into Genetic Counselling (CEGEN), we would like to address the possible misconception that specific ethnic groups were selected for study. There was no selection of cases. CEGEN reviewed the records of 88% of all couples resident in the UK who had a fetus with a major beta thalassaemia in the five years 1990-94. There was no evidence that cases not reviewed differed from those reviewed in any significant way, and the data are considered national and representative. Cypriots and Pakistanis figure prominently because they are the largest groups at risk for thalassaemias in the UK. We fully agree with Eboh and van den Akker's point that the effect of a screening programme on the number of affected births is not an appropriate indicator of the quality of service provision. We maintain registers of patients and of prenatal diagnoses but have never interpreted our results in this way. The aim of CEGEN was to assess access to informed choice. This is the objective of genetic counselling. It requires those at risk to be (a) identified (b) informed (c) supported in making the right choice for themselves in the light of their individual circumstances (1). The registers were used by CEGEN to measure availability of informed choice defined by (a) whether and when each couple's risk was identified, and (b) whether and when they were informed. Further details for 45 pregnancies ending in an unexpected affected live-birth are given in the CEGEN report to the Department of Health (2). Eboh and van den Akker enquire why counselling records held by haemoglobinopathy nurses were not used. We requested access to the records from haemoglobinopathy counsellors who could be identified from the obstetric notes. However, the response was poor and these records were not a useful source. The quality of notes and communications from haemoglobinopathy counsellors present in the obstetric records was extremely uneven, but we welcome this opportunity to comment on their outstanding quality in some areas. Eboh and van den Akker argue that a whole audit of a service in this area cannot be based on the method used. On the contrary, a meaningful audit cannot be conducted without such a study. This correspondence demonstrates the need for an agreed terminology in community genetics. For example it is necessary to distinguish clearly between utilisation and uptake of prenatal diagnosis. Utilisation = per cent of at risk pregnancies in which a prenatal diagnosis is performed. Uptake = per cent of at risk couples who request prenatal diagnosis when it is offered. Utilisation of prenatal diagnosis for thalassaemia in the UK has long been known to be 50% (3, 4). CEGEN was able to show that uptake is 80%, and that the main reason for 30% lower utilisation is failure to offer an informed choice. Of course, for a fully informed choice couples should be counselled in their preferred language and provided with all relevant information - e.g. British Muslims need to know that prenatal diagnosis and selective abortion are practised with the approval of respected religious authorities in many predominantly Islamic countries, including Pakistan and Iran (5). There are two reasons why we did not include such aspects in this paper. Firstly, the quality of the counselling records in most notes was inadequate for such evaluation. Secondly, the appalling finding that only half of all at risk couples in the UK are informed in time for choice, even though the service has been established for 20 years, makes a mockery of the idea of examining more refined aspects of counselling at a national level at this time. On a wider canvas our findings raise the question, how can the community benefit appropriately from the sequencing of the human genome, unless effort is also devoted to developing the policies and systems needed to deliver basic genetic services? Bernadette Modell References 1. Prenatal diagnosis and genetic screening; community and service implications. A report of the Royal College of Physicians, September 1989. The Royal College of Physicians of London. 2. National Confidential Enquiry into Counselling for Genetic Disorders. Homozygous Beta Thalassaemias, Great Britain 1990-94. Report to the Department of Health from the Steering Committee. 1998. 3. Modell B, Petrou M, Ward RHT, Fairweather DVI, Rodeck C, Varnavides LA, White JM. Effect of fetal diagnostic testing on the birth-rate of thalassaemia in Britain. Lancet 1985;2:1383-1386. 4. Modell B, Petrou M, Layton M, Varnavides L, Slater C, Ward RHT, Rodeck C, Nicolaides K, Gibbons S, Old J. Audit of prenatal diagnosis for haemoglobin disorders in the United Kingdom: the first 20 years. BMJ 1997; 315:779-784. 5. Petrou M, Modell B. Prenatal screening for haemoglobin disorders. Prenat Diag 1995;15:1275-95.