Clinical ethics committee case 6: Our patient wishes to take an unlisted drug though we’re not sure of his diagnosis.

Referral to the Clinical Ethics Committee: A 30 year-old man with suspected ADHD Case description A 30 year-old United States citizen, Mr D, who successfully studied in the USA was referred to a consultant psychiatrist in the UK two years ago. He had been given a diagnosis of Attention Deficit Hyperactivity Disorder (ADHD) in the USA and tried various stimulants there before settling on Adderal (a mixed amphetamine/ methamphetamine). Upon arrival in the UK he paid for this drug out of his own pocket but when he could no longer afford it, he approached his general practitioner (GP) to ask for a prescription for it. The GP then requested a psychiatric opinion as to the drug’s suitability, and ongoing psychiatric supervision if it was felt the drug was clinically indicated. The consultant psychiatrist was not persuaded that the patient did in fact have ADHD, but agreed to continue the treatment whilst assessing him further to review the diagnosis. There was no way of obtaining third party information about Mr D from his childhood or from his treating psychiatrist in the USA. He concluded that the patient had difficulties in his personality and with forming close relationships and that the diagnosis of ADHD was obscuring the main problem. Mr D would not accept the suggested revised diagnosis of personality disorder nor would he contemplate any alternative treatment. He passed examinations for Microsoft during the next year, but remained isolated, doing maths at home and corresponding with friends in the USA. Eventually he got a job in information technology, which he had held for a month. At around the same time, the GP declined to prescribe the drug any further, questioning the psychiatric indication, and saying it was expensive, and had to be ordered from the USA. The patient went for two weeks without the drug and felt his mind was wandering, that he was distractible, that he tended to waste time, and was worried about losing his job. His medication was then recommenced. However a second opinion was sought from another psychiatrist who concluded that, although the diagnosis could not be reliably established, it could not be discounted. His apparent benefit from medication argued for its potential continuation. A further opinion was recommended from a substance misuse specialist. This consultation confirmed that Mr D evidenced no signs of dependence or misuse of the stimulants, that he understood the potential long-term consequences of stimulant use and was competent to make that treatment decision. Mr D was able to continue work and, in fact, subsequently secured a better-paid job. Although he claimed to have good relations with work colleagues, he has not formed anything like a trusting friendship and remains fairly isolated. Dilemma prompting referral to the Clinical Ethics Committee Our team has approached the CEC to discuss the case with the following dilemma in mind: The key difficulty is that the psychiatrist does not feel he has a clear diagnosis which would justify the prescription and is authorising a prescription based purely on the balance of benefit and harm as perceived by the patient. Aside from the cost-benefit calculation, the question is: who should decide what constitutes the patient’s best interests?This article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014

Choice, autonomy and eugenics: Thoughts on the HGC's report on preconception genetic testing and screening

As highlighted in BioNews, in early April 2011 the UK's Human Genetics Commission (HGC) published a report supporting preconception genetic testing and screening (1). Preconception screening, which can be broadly described as identifying carriers of genetic mutations to inform reproductive decision-making for the person tested or his/her relatives, is well established in some jurisdictions but relatively unknown in the UK. The proposals outlined in the report could be argued to be merely an extension of established principles of genetic testing in pregnancy to those who are not yet pregnant. The rationale for this extension is that it will increase people's options and choices, enhancing reproductive autonomy. But large-scale screening of young people previously unaware of such testing will give rise to new issues. This means Dr Callum MacKellar was right to question the ethics of screening in his recent BioNews Commentary. But I think that Dr MacKellar hasn't quite hit the mark with his criticism. His concerns can be divided into two broad areas: (i) whether preconception testing is eugenic; and (ii) that preconception testing necessarily entails selecting against children. Taking his first concern, Dr MacKellar does not explicitly state whether he believes the report's recommendations will lead to eugenic practices, although he does seem to imply they may contravene some EU legal instruments if put into practice. But if such an interpretation is sound, it would also mean most current prenatal diagnosis also amounts to such a contravention. It may be more helpful to examine what might be wrong with 'negative eugenics' (that is, discouraging couples from having a particular child).This article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014

The role of patients in Clinical Ethics Support: A snapshot of practices and attitudes in the United Kingdom

Clinical ethics committees (CECs) in the United Kingdom (UK) have developed significantly over the past 15 years. The issue of access to and participation in clinical ethics consultation by patients and family members has, however, gone largely unrecognized. There are various dimensions to this kind of contact, including patient notification, consent and participation. This study reports the first specific investigation of patient contact with UK CECs. A questionnaire study was carried out with representatives from UK CECs. Results suggest that patient participation in clinical ethics consultation is low and unlikely to change significantly in the near future. Attitudes towards patients having a role in clinical ethics consultation are mixed, with a variety of reasons put forward both for and against patient participation. These results are discussed in the light of common themes in the literature and the practical and political context of clinical ethics support in the UK.This article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014

From foetus to full term - without a mother's touch

ARTIFICIAL wombs, to bring a foetus of a human being to full term outside a woman's body, could become a reality within 20 years, scientists have predicted. This could present great advantages in the case of ery premature babies, which could be nurtured to full pregnancy term in artificial wombs, thereby reducing the risk of long-term developmental problems. Such technology might also appeal to those who cannot have children naturally, such as women with a damaged uterus or no uterus at all, or to gay couples. The need for surrogate mothers could disappear. Experiments with human embryos, mice and goats have already had some success. But the technology raises significant ethical challenges and should not proceed without full ethical debate, Frida Simonstein, of Ben Gurion University in Israel, said

Whose genome is it anyway? Ethics and whole genome sequencing before birth

Geneticist Razib Khan's decision to obtain the whole genome sequence of his partner's fetus in utero shows us that genomics is no longer a fantasy. While it would be a mistake to use this one example to condemn the entire practice of whole genome sequencing (WGS) prior to birth, I will suggest here why we should look before we leap regarding prenatal WGS. If you lean towards the permissive with respect to genomics, this sequencing event may not be a big deal. Genomic sequencing technology is now fast and cheap. Long-held paradigms such as non-directiveness and respecting children's future autonomy may no longer apply when sequence information is becoming almost mundane and is striding into new healthcare domains. Presumptions of bodily integrity and reproductive autonomy in pregnancy may further diminish concerns – after all, we have very few justifiable thresholds for interfering in decision-making during pregnancy and the harm to the future child that may occur here would be unlikely to reach them. I think a bit differently to this and advocate a (future) child-centred approach; one which rejects technological imperatives to obtain whole sequences before birth just because we can. WGS will soon be cheaper than testing for one or a few genes and this is certainly a welcome development. But while high throughput methods might be chosen, they should not necessarily dictate the information that is provided. Genomics will bring a significant change in the volume of information received and we won't know for some time what it all means. Genomics also won't ever be able to tell us everything about our health. While Khan may have been able to analyse his son's own genome, this skill will not be within everyone's reach. And while genome sequencing is cheap, interpretation and data storage are not

Depression under stress: ethical issues in genetic testing (Refereed Editorial)

Genetic testing for risk of depression requires a reconsideration of ethical issues in genetics and how they manifest in psychiatric practice. A precautionary approach is advocated in that there should be limits on the use of the 5-HTT genetic test until its clinical utility and broader social impact are better understood.This article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014

Often it is not worth all of the heartache

PATERNITY tests re often the culmination of years of gnawing doubt. But they can have unforeseen consequences for family relationships. DNA testing has made the physical process of paternity testing straightforward. This simplicity, however, can conceal the emotional fallout. Non-paternity results could have far-reaching social, emotional nd legal consequences. Family relationships, care nd residence rrangements nd inheritance can be turned upside down. Once this information is known, it cannot be unlearnt. Some fathers may be happier to live with the hope of paternity than the certainty that they re not the father. They lso need to consider how they will react to bad news in their relationship with the child, or family life. If the situation is volatile, it may be better to delay testing

Why information and choice won't solve all of NIPT's ethical problems

Jane Fisher and Lyn Chitty highlight in BioNews 864 that it's been almost nine months since the UK National Screening Committee (NSC) recommended an 'evaluative implementation of NIPT into the NHS's antenatal screening programme (1) – a recommendation that still awaits ministerial decision. The NSC have recommended the staged implementation of NIPT as a contingent screen. It will be offered as an additional second-line test to women who have already had the currently available screening test and have been found to have a probability of greater than 1 in 150 of giving birth to a child with trisomy 13, 18 or 21. In the constraints of a publicly funded healthcare system, this step-wise implementation arguably makes ethical as well as scientific sense when compared to a model in which NIPT replaces current screening. It may reduce concerns such as routinisation of screening, the possible loss of moral and temporal 'thinking space' (2), and population harm resulting from overdiagnosis in pregnant women (see BioNews 797). Further, the oversight of testing by a public health body may mitigate the issue of equity of access to testing while accurately presenting the test's positive predictive value. While data now supports the use of NIPT in women from a range of risk backgrounds, it remains an 'advanced screening test' and is not yet diagnostic (3). This pragmatic and measured approach to the introduction of NIPT into a publicly funded healthcare setting is laudable, but ethical issues inevitably remain. Two particular aspects of the implementation of NIPT require further deliberation: (i) the ongoing prevalence of information-driven conceptions of reproductive autonomy; and (ii) the need to include a richer and more nuanced account of disability. I'll consider each in turn

“Should parental refusals of newborn screening be accepted?”

For over four decades, knowledge that symptoms of some inherited diseases can be prevented or reduced via early detection and treatment in newborns has underpinned state-funded screening programs in most developed countries. 1 Conditions for which newborn screening is now a recognized preventative public health initiative include phenylketonuria (PKU), congenital hypothyroidism (CHT), and, more recently, cystic fibrosis (CF) and sickle cell disorder (SCD). The use of tandem mass spectrometry to detect conditions such as amino-acidopathies and fatty-acid oxidation defects is also becoming increasingly prevalent. 2 The early identification of children who are at risk for these conditions can have very positive implications. To take the most significant example, a child born with mutations that would otherwise lead to symptoms of PKU will have a vastly different kind of life if the condition is detected in early infancy rather than later. The introduction of a modified diet at this time, although cumbersome, will prevent the onset of severe mental impairment, allowing the child to lead a virtually normal life. 3 Although clinical indications are sometimes more contentious when justifying screening for other conditions, by and large newborn screening is clinically valid and carries only minimal risk. However, it is sometimes declined by parents, presenting healthcare professionals with an ethical, legal, and practical dilemma. Consider the following scenario: Emma and Tom both work as pediatricians in a large city hospital. They have recently had their third child, a daughter named Clare. During a postnatal visit to their home by a midwife, Emma indicates that she and Tom do not want Clare to have any newborn screening. Emma reports there is no family history of any of the diseases being screened for, and she feels strongly that the probability Clare will have any of the conditions is so low that it cannot justify subjecting her to an invasive test. This scenario gives rise to three issues, each addressed below. First, is Emma and Tom’s refusal of newborn screening for Clare justifiable? Second, should the law ever mandate newborn screening over parental objections? Third, howshould such refusals be managed in practice? Using the example of PKU screening, it is argued that although refusals are often difficult to defend, legal intervention is unjustified as a means of compelling parents to allow their infant to be screened. Nevertheless, the state may be justified in exercising some degree of “influence” over parental decisionmaking, via the practices of health professionals involved in newborn screening.This article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014

A justifiable alternative

The granting of a licence to avoid the birth of children carrying the retinoblastoma gene marks another direction for pre-implantation genetic diagnosis (PGD). Selection is no longer against disease, but susceptibility. A child born with retinoblastoma will not definitely fall ill. There are treatments to control it in its early stages. But this does not mean we should not offer PGD for retinoblastoma. PGD to avoid the birth of children with genetic diseases has public support, for good reason. Retinoblastoma is an especially unpleasant disease. It can lead to blindness or death, and treatment often requires chemotherapy and removal of the eye. This is why prenatal diagnosis in early pregnancy is offered. Yet this is not an ideal option. A woman may not want to abort on the chance that her child might get cancer. There is also no guarantee that the next pregnancy will be healthy. PGD therefore offers a real alternative. The gene is not passed on but no abortion is required