New Knowledge - New Challenges: A Consideration of Some Key Challenges for Intellectual and Developmental Disability Nursing Arising from the Developing Understanding of Genetics

Owen Barr, RGN, RNLD, RNT, BSc (Hons), MSc, PhD and Heather Skirton, PhD, RGN, Registered Genetic Counsellor, Cert.M

Abstract

Developments in the understanding of genetics have advanced considerably in the past 20 years. There is considerable anticipation of the benefits that a more accurate understanding of genetics may bring to the lives of people with intellectual and/or developmental disabilities and their families. However, the development of this new knowledge brings with it new challenges in its application to the lives of people with intellectual and developmental disabilities that are often not adequately discussed in the nursing press. Nurses working in services for people with intellectual and developmental disabilities need to become more knowledgeable both in understanding the nature of genetics and, equally importantly, in the potential ethical challenges in applying this in their nursing role. It is argued that nurses should pay particular attention to the challenges involved. Two areas that are highly relevant to nurses who provide care for individuals with learning disabilities are the introduction of antenatal screening and testing, and the limited accessibility of information on genetics for people with intellectual and/or developmental disabilities.

Keywords: genetics , challenges , antenatal screening , choice

INTRODUCTION

This issue of the journal has brought together much information on the advances in understanding genetic knowledge and highlighted the potential importance of this to nurses providing services for people with intellectual and/or developmental disabilities. This message has also been highlighted in professional intellectual disability journals within the United Kingdom^{1, 2}. As noted in this special issue of IJIDDN on genetics, a review of the literature in professional journals and on the Internet quickly reveals the growing number of resources available to nurses wishing to understand more about how genetics may impact their future practice. Much of the literature and other resources seek to emphasize the potential positive contribution to the lives of people with intellectual disabilities and their families.

It is acknowledged that the developments in genetics may increase the practitioner’s ability to confirm a genetic diagnosis, which may be of benefit to the child and parents in providing services required. Some parents who have a child with intellectual disability have expressed a need to know the cause of their child’s disability and have found that having a diagnosis has positive psychological benefits^{3, 4}. Developments in genetics, however, have also given rise to international recognition and expressions of concern about the potential implications for people with disabilities^{5, 6, 7}. These developments have raised a number of ethical and legal issues, including the timing of tests, the process of obtaining informed and valid consent, the purpose of antenatal genetic screening and diagnostic testing, and the potential use of personal genetic information arising from test results^{6, 8, 9, 10}.

The authors accept that the developments in genetic understanding may have a major impact on the lives of people with intellectual disabilities and people with developmental disabilities and their families. However, they challenge what appears to the authors to be an implicit view in many articles that the contribution of developing genetic knowledge to the lives of people with intellectual or developmental disabilities will be unproblematic. It is argued that as a result of the development of understanding in the field of genetics, new challenges will arise related to the way this information is used for the benefit of people with intellectual or developmental disabilities. Three key areas are explored:

• The descriptive and evolving nature of existing knowledge about genetics;
• The introduction of antenatal screening for congenital conditions such as Down syndrome;
• The need for people with intellectual disabilities to have information and to be included in discussions about genetics.

This paper is informed by a literature review into genetic screening, choice and rights undertaken by the authors and funded by the Foundation for People with Learning Disabilities¹¹.

GENETICS AS A CAUSE OF INTELLECTUAL DISABILITIES: 'WORK IN PROGRESS'

A wide range of factors may contribute to, or result in the presence of intellectual disabilities. These can be broadly categorized under the headings of biological, social and environmental factors. Alterations in the structure of either genes or chromosomes are among the biological causes, and it is estimated that approximately 50% of all people with intellectual disabilities have a condition with a genetic origin¹². Of these, only half have a definite genetic diagnosis, while the remainder are considered to have a genetic condition on the basis of clinical presentation and family history.

Since the confirmation of Trisomy 21 as the chromosomal origin of Down syndrome, many more conditions that involve either alterations in one or more genes or numerical or structural chromosome anomalies have been identified, resulting in a group of conditions that is now exceedingly large and steadily growing¹³. Of these, the two most common conditions associated with the presence of learning disability are Down syndrome and fragile X¹⁴.

It is expected that with increasing developments in understanding genetic inheritance and diagnostic testing, the number of known genetic causes will increase. This will include a growing number of occasions in which a confirmed genetic cause is identified for conditions that were previously presumed to be environmental/social in causation¹⁵. Developments in technology and scientific insights will result in the increased ability of practitioners to undertake genetic tests, leading to the identification and diagnosis of a growing number of genetic conditions^{16, 17}. Recent examples of this include the implication of cytoplasmic mitochondrial inheritance in the familial Down syndrome¹⁸, evidence that Klinefelter syndrome may be a common cause of intellectual disabilities in prepubertal boys who have previously been identified as having intellectual disabilities of unknown aetiology¹⁹ and the detection of interstitial deletions and unbalanced translocations in children with cri-du-chat syndrome²⁰.

In accepting there has been considerable growth in the understanding of genetics, it is important to recognize that the growth in knowledge is largely at the level of descriptive information. For instance, the map of the human genome is a description of the contents of the genome; it provides the number of genes within the genome, together with the size and location of these²¹. In addition, some information is provided on the function of the genes in relation to their link to particular proteins produced. However, this should not be mistaken for a detailed understanding of the overall function of what the genes do individually, how these interact or how they may be altered to benefit people. Furthermore, this knowledge has been revised on a number of occasions as new information has become available, and in this process, previously reported information has been altered. Alongside this there has been a growing recognition that genetic material previously consigned to being 'junk' has been reassigned to potentially having important roles, so the understanding of the human genome is not by any means complete.

The potential for major developments in treatment is undoubtedly present, but the realization of this potential will require a shift beyond descriptive knowledge to a more advanced level of comprehension and the ability to synthesis the information. The technological developments required in order to use the information in the genetic-based treatments could be more accurately described as a 'work in progress.' An increasing number of individuals with intellectual disabilities (or their parents) will receive diagnostic information from genetic investigations as progress in understanding genetic inheritance is made. This information can provide a basis for offering carrier testing to other family members or antenatal screening and diagnostic testing for the condition in a future pregnancy. However, it is likely that services are some distance from providing effective interventions to improve the quality of life of people with intellectual and/or developmental disabilities.

THE INTRODUCTION OF ANTENATAL SCREENING FOR DOWN SYNDROME

The offer of antenatal screening to identify the level of chance that a particular fetus has Down syndrome now exists in many countries. For example, within the United Kingdom the offer of antenatal screening for Down syndrome for all pregnant women was introduced in England and Wales on the 1^st April 2004²² and is available to differing degrees in Scotland and Northern Ireland. This type of antenatal screening is offered within some European countries²³ and across many states within America²⁴. In some services this is offered to all pregnant women, whereas in other places this is only offered to mothers who are considered to be at higher risk of having a child with Down syndrome (for example mothers over 35 years old or those with a previous history of having a child with Down syndrome). Within the United Kingdom a number of principles that should underpin the offer of antenatal screening for the risk of having a child with Down syndrome have been identified²², these are:

• No screening without available pre- and post-test counseling.
• Tests should only be offered to detect serious risks to the child’s health.
• Counseling should be non-directive.
• Both partners should be involved, if possible.
• Informed consent is required for screening or testing.
• Incapacitated persons should not be disadvantaged in terms of opportunities for screening and testing.
• Information provided should be sufficient to enable the person to make informed decision.
• Pre-conceptual counseling should be offered where risks are known prior to the pregnancy.

Although the terms antenatal screening and antenatal testing appear to be sometimes used interchangeably, there is a distinction between antenatal screening and testing. In the case of antenatal screening for Down syndrome, a combination of maternal age, biochemical test results and possibly ultrasound scan findings are used to devise an estimate related to the chance that the fetus in that particular pregnancy may have Down syndrome²². Recent evidence indicates that the most accurate way to screen for Down syndrome in pregnancy is using the integrated approach, which combines results from first trimester and second trimester screening; but, this means women need to make a decision about screening very early in the pregnancy ²⁵. Generally those parents whose fetus is assessed as having more than a 1 in 250 chance are offered invasive diagnostic testing^{26, 27}.

Within the literature reviewed, four key ethical arguments have been put forward to defend the introduction of antenatal screening for conditions such as Down syndrome. Whilst a detailed ethical debate is beyond the scope of this paper, an overview of the four main lines of argument is provided, together with details of further publications in this area. These arguments can be viewed as arising from, at times, differing perspectives of parents, people with intellectual disabilities and society.

Parental autonomy

The core of this line of argument is that parents (often presented more specifically as mothers) should have the right to make autonomous decisions about their own reproduction. In consequence, when parents become aware that the fetus has a disability, they have the right to consider this and make a decision about the continuation or ending of the pregnancy^{9, 28}. In this scenario, it can be argued that the provision of antenatal screening and diagnostic testing acts to further enhance information given to parents and inform their decision. Another perspective put forward by Chadwick²⁹ is that the decision to decline information and any tests should also be viewed as the exercise of autonomy and right not to know, but there is evidence that some professionals find the refusal of screening difficult to manage³⁰. The right of parents to make decisions in relation to reproduction, although not universally accepted, appears to be the argument with the most consistent support. However, this is conditional on the need for the conditions of valid consent to be met^{9, 28, 31, 32}.

The idea of a good life – quality of life of people with intellectual disabilities

This line of argument seeks to present the support for antenatal screening as an approach that prevents suffering of people with Down syndrome. It is argued that people with Down syndrome suffer as a consequence of their condition and challenges their ability to have an acceptable quality of human life⁹. Within this argument, suffering is assumed to be present, despite the fact that some proponents do acknowledge that many people with intellectual disabilities do have an excellent quality of life³¹. A particular challenge to this argument is presented by authors who believe that the concept of disability is rooted in societal attitudes³³ and that many of the experiences that contribute to the reduced quality of life are not inherent in the genetic origin of the disabilities. Rather, these have their origins in how society responds to people and the effect of any associated stigma. Using this argument, the use of antenatal screening does not address a key cause of the reduced quality of life. Another criticism of this argument is that it is built upon presumptions of (so-called) able-bodied people about what constitutes an acceptable quality of life.

The interest of 'the state'

Moving beyond the interests of parents, siblings and people with disabilities, a further ethical argument is that it is in the interests of the state, collectively, to have antenatal screening programmes. It has been argued that the historical association between genetics and people with intellectual disabilities (in the form of eugenics) has contributed to concerns about the use of genetics^{1, 7}. A particular concern highlighted within services for people with intellectual disabilities has focused on the concern that underlying the development of genetic tests and other genetic-based technologies is the perceived desire to reduce the number of children born with intellectual and other disabilities^{7, 34}.

These concerns appear to have some basis, with recent references in the literature to the use of antenatal screening as cost-effective³⁵ and as a method of reducing the number of children born with birth defects³⁶. Another approach by some authors has been to present this argument using the language of public health, and it as been asserted in an earlier issue of this journal that 'the prevention of primary intellectual and developmental disabilities and secondary conditions is important to maintain the health of the public'³⁷.

In challenging this line of argument for antenatal screening, it is argued that such a programme would only ever be in the interests of the state if it were linked to the requirement for termination of affected fetuses and there was a compulsion for testing. Such a programme would be explicitly eugenic; however, the requirement for valid and informed parental consent for screening helps reduce the chance that eugenics is being practiced through the screening program.

Fetal wastage argument

Building on the fact that many pregnancies are lost through spontaneous abortion, and that genetic disorders are over represented in such abortions, it is argued that antenatal screening, testing and the selective termination of pregnancy are an enhancement of a natural process. Louhiala⁹ rejects this argument as not valid, due to its reliance on the presumption that all that happens in nature is good and evidence that nature does not always seek to remove pregnancies in which a condition possibly leading to intellectual disabilities is present. He also argues that it is underpinned by presumptions about people with particular genotype or phenotype. This argument is further challenged due to the number of other processes of nature that we do not seek to further enhance.

In conclusion, a number of ethical arguments have been put forward in support of the introduction of antenatal screening with varying degrees of support. The need to give attention to the ethical aspects of antenatal screening has been highlighted within a handbook for staff involved in offering antenatal screening, which noted that 'the ethical implications of all screening programmes are important. These implications are particularly important in antenatal screening and the need to respect values and beliefs of different groups and individuals is of highest importance'²².

While all of the above arguments can be challenged to varying degrees, it is accepted that the parental autonomy argument may be strong in some particular cases depending on parents’ views, personal and cultural circumstances, and other resources. Conditional to this is the offer of antenatal screening and diagnostic testing without any compulsion to terminate an affected pregnancy. Inherent in the rationale of the argument for parental autonomy is the requirement for parents’ autonomous decisions to be underpinned by access to appropriate balanced information and be free of duress.

Other factors relevant to the offer of antenatal genetic screening and antenatal testing

Although a number of publications have highlighted ethical challenges to the introduction of antenatal screening^{8, 9, 22, 38}, it is argued that within intellectual disability services limited debate and research about genetic developments has occurred⁶. Published literature, in the main, is restricted to the consideration of the ethical discourse relevant to antenatal screening and the potential of developments in genetic understanding to lead to an increased number of genetic tests and confirmed diagnosis. Much less attention has been given in the literature to the evaluation of the actual implementation of antenatal screening, practical issues that arise in this process, and actual or potential implications for parents, other family members and people with intellectual disabilities.

There is a need for further exploration of the issues associated with the developing knowledge of genetic inheritance and the application of this in the form of antenatal genetic screening and testing. While such screening is seen to be an expression of reproductive choice offered to parents, there is a potential impact upon individuals, families and communities. The receipt of personal genetic information can often have direct implications for other family members because of the transgenerational aspect of this information. The identification of implications for other family members may also contribute to tension within the wider family^{39, 40, 41}.

Concerns have been expressed about how the 'offer' of antenatal screening and testing has been implemented, in particular, around the quality of the information provided to people who may be considering consenting to a genetic test. These concerns have included the overly medically and potentially biased information provided about people with Down syndrome and the lack of knowledge that staff offering the antenatal screening have of the lives of people with Down syndrome¹¹.

Another important area of concern is that the task of decision making about issues with which the parents may have no experience contributes to the difficulties for those parents. As the number of terminations for Down syndrome increase, the less opportunity individuals have to meet and interact with children and adults who have Down syndrome. The widespread use of antenatal screening and testing prompts fears that societal resources to support individuals with a disability will diminish as a result of the reduction in numbers of disabled people. As the majority of disabilities are undetectable before birth¹⁴, a dramatic reduction in numbers is unlikely. However, widespread use of antenatal screening and termination of affected pregnancies does have the potential to further stigmatize those born with a disability. Communities need to address the value of each individual in society and address resource issues to enable those born with a disability to live with their impairment. Couples who are not given support to explore what it would mean to them to raise a child with a disability are not able to give truly valid consent to these procedures^{42, 43, 44}. Research to explore the views of women who have a sibling with Down syndrome indicated that only about half (54%) would definitely wish to have antenatal diagnostic test during a pregnancy. Some respondents, however, were distressed and offended by the assumption by health professionals that they would want antenatal testing⁴⁵.

Giving the unique nature of personal genetic information⁴⁶ and the potentially far reaching consequences for people with intellectual disabilities and their families arising from the introduction of the offer of antenatal genetic testing, there is a need for further exploration of the issues associated with the developing knowledge of genetic inheritance and the application of this in the form of antenatal genetic screening. In doing so, there should be a clearer focus on how these developments will potentially impact people with intellectual disabilities and their family members across different countries.

THE NEED FOR PEOPLE WITH INTELLECTUAL DISABILITIES TO HAVE INFORMATION AND BE INCLUDED IN DISCUSSIONS ABOUT GENETICS

People with intellectual and/or developmental disabilities may come in contact with genetics services or the application of new genetic information in a number of ways. These could include the process of genetic investigation in an effort to diagnose the origins of their disabilities, the use of genetic profiling in the selection of treatment approaches such as pharmacogenetics, screening for susceptibility to common health problems or adult onset conditions, and the offer of antenatal screening and/or testing if they are themselves prospective parents.

The past decade has seen an emphasis on the importance of providing accessible information to people with intellectual disabilities about a wide range of aspects of health care and equity of access to services across the United Kingdom and America^{47, 48, 49, 50}. The need to provide opportunities for people with intellectual disabilities to give valid consent and receive on going support during the process of genetic investigation has also been highlighted³³. However, in reviewing the available literature, it became very clear that few attempts have been made to date to explain the concepts of genetics to people with intellectual disabilities, or to explore what they understand and feel about genetics. The only projects found relating specifically to providing people with intellectual disabilities the opportunity to discuss genetics were in relation to antenatal screening^{34, 51}.

In an innovative project, Howarth et al.³⁴ sought to provide information about genetics, including antenatal screening and termination of pregnancy, to a group of people with intellectual disabilities. This was provided in a workshop session and using specially formatted information that sought to explain the concepts involved. It was clear from the feedback of the people with intellectual disabilities that they developed some understanding of the key points of information and recognized that the potential implications of antenatal screening could lead to people choosing to terminate a pregnancy if a diagnostic test confirmed the presence of Down syndrome. Although acknowledging some difficulties in living with intellectual disabilities, they particularly highlighted their achievements and several, but not all, people questioned why the birth of child with disabilities should be prevented. In particular, a person with Down syndrome in the group became particularly distressed as the individual realized the potential for the birth of people with Down syndrome to be prevented. Alderson et al.⁵¹ reported a similar distress among some people with Down syndrome she interviewed in relation to genetics, and she noted the need for supportive counseling in providing this information, which is a criterion already expected when providing this information to people who do not have intellectual disabilities²².

CONCLUSION

The understanding of genetics will continue to develop, and there is hope that there will be benefits for people with intellectual and developmental disabilities. A more developed understanding of genetics may provide parents with advance notice that their child will be born with a genetic condition and so facilitate planning for the birth and the life of the child. Genetic investigations may also provide people with intellectual disabilities and their parents/family members with opportunities to obtain a more specific diagnosis; this in turn could be important in helping families to access proactive health treatments and further screening. However, with this new knowledge will come new challenges related, in particular, to the use of genetic investigations in antenatal care and to the determination of the potential benefits of treatment approaches. It is neither practical nor desirable to attempt to separate the developments in understanding genetics from the ethical challenges in successfully applying this new knowledge for the benefit of people with intellectual and/or developmental disabilities.

If developments in understanding genetic information are to actually benefit people with intellectual disabilities already living, as well as their families and wider society, it is necessary for nurses who support them to become actively involved in learning about genetics and communicating this information to people with intellectual disabilities in a way they can understand and which increases their opportunities to make informed decisions¹. Alongside this, nurses in intellectual and developmental disabilities services need to remain alert to the potential abuses of genetic knowledge. An apparent scientific veneer for the introduction of further genetic investigations and treatments could have negative consequences for people with intellectual disabilities and possibly the opportunity for future children with genetic conditions identified prenatally to be born^{6, 9}.