Abstract
In the process of creating a care plan or finding a placement for children, assessment of their health and developmental needs will be undertaken. This can involve the interpretation of complex family history information and may also include undertaking and interpreting the results of genetic testing, when within professional guidelines. This study explores opinions, knowledge about and experiences of adoption professionals in relation to genetic information and testing in Wales. Semi-structured qualitative interviews were conducted with six social workers and seven medical advisers. The data were transcribed and thematically analysed. Themes included the challenges to collation of family history, how the willingness of professionals to undertake genetic testing in children awaiting adoption was altered by the availability (and non-availability) of family history information, and the uncertainty that genetic information can generate for professionals and prospective parents. Uncertainty for both professional groups emerged from apparent inconsistency in current practice and from concern over their own lack of genetic knowledge. As new genetic technologies increase the scope of uncertainty, there is a need for social workers and medical practitioners working in adoption to have a greater understanding of genetics alongside opportunities to discuss cases in a multidisciplinary setting when appropriate.
Genetics: a basic introduction
A gene is a section of DNA that codes for particular proteins: the building blocks of our body. This DNA is packaged into 46 chromosomes arranged as 23 pairs. Usually people have two copies of each chromosome: one is inherited from the mother and one from the father, meaning we typically have two copies of every gene. Genes can be altered through changes to the DNA and these alterations have implications for health. The genotype refers to the genes we have that are responsible for a particular trait or problem. The phenotype is a description of the physical characteristics. It is influenced by both the genotype (the genes we have) and the unique circumstances of the intrauterine and postnatal environment, such as antenatal drug and alcohol exposure, neglect and emotional and physical abuse.
Genetic alterations responsible for disease can occur when an embryo is created at fertilisation. These are de novo changes, meaning that they arise for the first time in the newly formed embryo. Alternatively, genetic alterations may be inherited from a parent. When an alteration is found in a child, it may be useful, or even necessary, to test parents too (a ‘trio sample’, the trio being the child, mother and father) in order to ‘make sense’ of the alteration, deciding on its likely clinical significance.
Each genetic condition has an inheritance pattern which determines the risk of having a genetic disease for other family members. In a dominant condition only one copy of a gene needs to be altered for the disease to occur. When this individual has a child, they would pass on one copy of that gene, either the altered or the working copy. This means that a first-degree relative of a person affected by such a disease is at a 50% risk of having the condition (Figure 1, Image 1).
Inheritance patterns and genetic alteration.
In a recessive condition both copies of a gene must be altered for a disease to occur. Often the parents of an affected child are carriers for the recessive condition, as they have one altered copy of a disease-causing gene and one working copy. Being a carrier has no consequences for parental health, but when two carriers have a child there is a 25% risk of that child being affected (Figure 1, Image 2). There are conditions that are associated with changes on the X-chromosome. Males have an X and Y chromosome, females have two X chromosomes and these are known as the sex chromosomes. Typically in an X-linked condition, males are affected as they do not have another copy to compensate, and females are carriers; however, there are some circumstances where females may develop milder symptoms.
Within genetics three broad categories of testing can be undertaken:
Diagnostic testing. When a pregnancy, child or adult is suspected of having a genetic condition, testing can be carried out to confirm the clinical diagnosis. A consultant clinical geneticist or another specialist doctor, such as a paediatrician or neurologist, may do it following a clinical assessment. Carrier testing. When a couple are planning a pregnancy and there is a family history of a recessive condition, testing can be undertaken to establish whether individuals are carriers. Where two people are found to be carriers, there may be options pre-pregnancy that can be carried out to ensure that a foetus is not affected by the condition (pre-implantation genetic diagnosis). Predictive or pre-symptomatic testing. When a known condition in a family has been confirmed by genetic testing in an affected individual, relatives can be tested prior to the development of symptoms to see if they are affected. Testing a healthy individual for this condition is known as ‘predictive’ or ‘pre-symptomatic’ testing. This type of testing may reveal a higher risk of cancer, allowing for increased surveillance or prophylactic surgery; for example, in the case of the actress Angelina Jolie, detection of the BRCA gene led to her having a prophylactic mastectomy. In other cases, it may involve testing for a disease without treatment options, such as Huntington’s disease. Generally, children should not have predictive genetic testing for adult-onset conditions. This respects the autonomy of the child, allowing them to wait until an age where they can participate in making their own informed decision about their preferences for knowing about their future health.
Depending on the condition suspected, different types of genetic testing will be performed. Usually it requires a blood sample to be taken, following consent for testing. For a child, this tends to be proxy consent by a parent or other individual with parental responsibility. When a particular genetic condition is suspected, a test can be done that looks just at that particular gene. The gene can be sequenced, meaning each component of the DNA code is ‘read’. When there is no one particular gene thought to be the cause, the whole genome will be tested to try to identify a genetic origin. Frequently, the test used is chromosomal microarray (CMA), also known as array comparative genomic hybridisation (aCGH). This looks across the chromosomes that contain the genes, comparing a patient’s DNA sample with a reference sample to find areas where there is too much (duplication) or too little (deletion) DNA. These changes in gene copy number can be responsible for disease and disorders of development. As technology advances, it is possible to sequence the whole genome or just the parts that code for proteins (whole exome sequencing). These tests are now starting to enter clinical practice, used when there is a strong suspicion of genetic disease but no diagnosis has been established using other testing methods.
Medical genetics in the UK
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. It is a rapidly evolving medical specialty and is staffed by medical geneticists (doctors specialising in the diagnosis and management of genetic disease), genetic counsellors (healthcare professionals who inform and advise families about their risk of inheriting genetic diseases and the possible testing and treatment options) and laboratory scientists (who perform different types of genetic testing on human samples).
In the UK, NHS regional genetic services are based in Hospital Trusts that provide a clinical service for both adults and children, mainly in the outpatient setting. Individuals and families can be referred to medical genetics based upon family history information suggestive of genetic disease or where a medical professional (such as a general practitioner or paediatrician) suspects a genetic cause for a particular problem, such as congenital anomaly or delayed or disordered development. Families may also be seen prenatally or antenatally when a previous pregnancy or current pregnancy is thought to be affected by a genetic disorder (for example, through abnormal screening tests).
Adoption and genetic testing
Adoption enables the creation and/or growth of family systems for children and parents. Historically, it predominantly involved the placement of relinquished children: those taken into care because the biological family chose not to, or could not, raise them. In contrast, children from many backgrounds now enter care through decisions made by local authorities, often having been removed from birth families following neglect or abuse (Hill, et al., 2010).
Social workers, in conjunction with medical advisers, are required to collate and assess the individual child and broader family medical history in order to identify the most appropriate home for each child. The matching process aims to pair the looked after child with the most appropriate available adoptive family, thus promoting permanency. The guidelines for collecting and sharing familial information, along with other professional practices in adoption, are based upon the Adoption Act Regulations (Adoption Agencies Regulations, 2005, Reg. 16.2). These state how: The adoption agency must obtain, so far as is reasonably practicable, the information about the health of each of the child’s natural parents and his brothers and sisters (of the full blood or the half-blood).
Ethicists have turned to the ‘matching argument’ to assert that pre-adoption genetic testing ‒ predicting a child’s future health or reproductive risks ‒ has a role in allowing prospective adoptive parents to choose a child whom they would be emotionally and socially prepared to adopt. However, suspicion remains that this reduces the child to a commodity and parents who make use of such testing will place inappropriate weight on the characteristics over which they can exert some control. Furthermore, the underlying assumption that matching parental preferences with the child’s genetic constitution will lead to the best ‘match’ seems to be a prejudice without basis in reason or evidence. The ethical consensus remains that the child’s genetic privacy should be respected unless there are strong grounds for testing in her or his best interests (Freundlich, 1998; Jansen and Ross, 2001; Leighton, 2014; Newson and Leonard, 2010).
Medical professionals have also developed consensus guidance stating that predictive genetic testing should not be undertaken in children for conditions with adult-onset or where there is no beneficial medical intervention available at the age of testing (Committee on Bioethics, 2013; European Society of Human Genetics, 2009; Ross, et al., 2013). Guidelines published by the American Society of Human Genetics (ASHG) (Botkin, et al., 2015) and the British Society of Human Genetics (BSHG) (BSHG, 2010) further explore the genetic testing of looked after children in the context of adoption and advise that biological and adoptive children should be treated no differently when testing is being considered. The BSHG report raises the question of whether there may be circumstances in which, given open communication of genetic information between all parties, including prospective parents, predictive testing could help to ensure an appropriate match between family and child. However, this report still recommends caution about testing and advises that the ‘best’ prospective parents will accept a child in the knowledge that there remains uncertainty about her or his genetic make-up (BSHG, 2010). These guidelines are yet to reflect the implications of results from more modern technologies (such as whole genome sequencing) for looked after children.
Genetic testing can also generate ‘off-target’ information: that is, information which is not related to the reason why testing was undertaken but which may have clinical implications for the health or reproductive decision-making of the patient and their relatives. These types of off-target results fall broadly into two categories. First, variants of uncertain/unknown significance are those in the genes where the clinical significance is not yet known. With more genetic research and knowledge, these variants may well be reclassified in the future as whether pathogenic or benign. The second category, incidental findings, are variants with a known clinical consequence that is unrelated to the reason for which the test was performed; for example, finding a cancer predisposition gene in a child being investigated for delayed development. The chances of finding either variants of uncertain significance or incidental findings using genome-based diagnostics is now much greater than with more targeted forms of testing (Clarke, 2014; Hamilton, et al., 2015). The additional data from genome-based tests, such as CMA, exome sequencing and whole genome sequencing, offer not only greater diagnostic yield but also increases in complexity and uncertainty (Newson, et al., 2016). These difficulties and the additional questions of incomplete penetrance and variable expressivity may be especially hard to resolve in the context of adoption.
Lay misunderstandings about inheritance and the interpretation of genetic test results can trigger potentially avoidable adverse responses to finding out genetic information (Soon, Hariharan and Snyder, 2013). Hamilton and colleagues (2015) evidence this through a case in which prospective parents withdrew from the adoption process after CMA testing identified a microduplication recognised as a risk factor for autism, despite there being no clinical evidence of autism in the child. The current high levels of intrauterine exposure to alcohol and drugs in some of the pregnancies of looked after children, and the scope for interaction between such exposures and neurosusceptibility variants discovered on CMA or other genetic testing, introduce further uncertainties that (at present) cannot be resolved (Hamilton, et al., 2015; Parker, Parker and Teasdale, 2016).
Concerns have been reiterated by parents discussing pre-adoption whole genome sequencing (Crouch, et al., 2015). These tests could attempt to substitute missing health family history, which could be seen as beneficial for adopted children (Lebner, 2000). However, without full family history information and without the testing of biological relatives to enable the interpretation of results, negative or uncertain findings cannot provide the reassurance and information that adoptive parents might be seeking.
May (2015), an adoptive parent and doctor, has given a reflective account of an adopter’s feelings towards the potential genetic testing of his daughter. He describes his own insecurities about the child’s biological heritage and the way this has driven him to consider the direct-to-consumer testing available through private services online. This testing can provide DNA-based ethnicity information as well as DNA markers that can predict health risks. He feels his child might consider him to have failed as a parent if he cannot provide the ancestral information but on balance decided that the health information would be inappropriate and advises caution.
Previously, the opinions of health professionals have revealed uncertainty among social workers around their knowledge and awareness of professional genetic guidelines (Dewell, 2012; Taylor, et al., 2010). Some conveyed favourable attitudes towards genetic testing within the adoption process while medical advisers demonstrated awareness of the caution about genetic testing in children expressed in guidelines, placing more emphasis on the need to respect the future autonomy of the ones facing adoption (Dewell, 2012).
Parker and colleagues (2016) describe how information sharing is an essential facet of assessment of each child, maintaining a focus on the child’s best interests. Others have also considered the challenges of collecting and disclosing information in this process (Acharyya, 2000; Hill, et al., 2010), particularly regarding the quality of care requirements and the legality of information sharing within the UK.
Despite discussion of the difficulties and the ethical principles involved, it is still not clear how genetic testing is incorporated into current practice by professionals and what importance is placed on this information by prospective parents. It is therefore important to gain insight into how family history information and genetic testing are understood and used by medical professionals and social workers in the adoption process. It was decided that this study should seek information from such professionals with first-hand experience of working with birth families, looked after children and prospective adopters. They would provide thoughts, reflections and evidence about their own practice and experiences and also offer insight into the feelings of the families with whom they work.
Methods
This study employed semi-structured interviews with medical professionals and social workers in Wales who are involved in adoption through gathering family history information. They perform medical examinations and access and share information between birth families and prospective adopters. The study was approved by the Research Ethics Committee of the School of Medicine of Cardiff University, the Research & Development Office of Cardiff and Vale University Health Board and the lead of the National Adoption Service (NAS) in Wales.
Participants and recruitment
Purposive sampling was undertaken to identify the relevant professionals. Medical advisers, usually paediatricians working predominantly in fostering and adoption, were contacted through the Welsh Medical Group. The local authority and voluntary sector social workers were approached through the NAS. Recruitment extended from January to May 2016. Professionals were asked to consider taking part if they were willing to share their experience of genetics and of adoption but they were not required to have had direct experience with genetic testing in a case of adoption or fostering. Seven medical advisers and six social workers were interviewed. Thirteen medical advisers were initially approached, giving a participation rate of 54%; it is not possible to give the rate for social workers as it is not known how many of those who work within each local authority were both eligible to participate and were introduced to the research.
Semi-structured interviews
Semi-structured interviews with open questions were used, enabling structured conversations but with flexibility to elicit accounts (Garfinkel, 1956; Goffman, 1959). An interview guide, created for the study, provided a list of topics and areas for further exploration which could provide context to the use of genetic information and testing.
Data analysis
Thematic analysis of the anonymised data (interview transcripts) was carried out (Braun and Clarke, 2006). This aimed to identify patterns of meaning across the dataset, allowing for reports of experiences. The analysis provided a rich description of the predominant themes, helping to investigate an area where real-life practice is under researched. Patterns and themes relevant to the research question were identified through coding, inclusive of surrounding data to maintain context (Bryman, 2015). Themes were refined by identifying the coherent narrative captured by each theme and referring back to the original research question.
Data validation
Data saturation was reached and presentations of the research locally and nationally provided simple validation of the themes identified (Shenton, 2004) and demonstrated rigour. Following the identification of the need for knowledge among social workers as a theme, the researcher undertook a teaching session for a group of social workers. This allowed member checking, confirming the data findings among the type of professionals interviewed, and was rewarded with positive feedback.
Results
All of the participants described challenges and inconsistencies in the practice of obtaining and using genetic information in adoption. Barriers to the process of genetic assessment of looked after children were identified at each stage and are described below. The main themes identified arose from professionals’ descriptions of the overall process and of the challenges of working with familial information: (1) collecting information; (2) genetic testing; (3) sharing information; and (4) professional practice.
Theme 1: Challenges to collecting information
Throughout the interviews, the professionals described the difficulties of collecting information on the looked after children and the birth families. This involved medical advisers carrying out a medical assessment of the child that was collated with a form called the Child’s Assessment Report for Adoption (CARA). Social workers would also gather family history and gain the biological parents’ consent to access health information. However, every professional interviewed expressed dissatisfaction at the depth, quality and reliability of the information obtained and reflected upon the challenges they encountered in trying to access it.
Co-operation
The first challenge described by participants was obtaining consent from the birth family to access their information. There was an opinion that birth families chose not to participate as their last act of control and a protest at their children being removed from their care: And of course they don’t want to engage with the local authority because we’ve just taken their child away from them, so why would they want to engage with us? (Participant 5)
A social worker described the process of trying to persuade birth families to provide information and consent, discussing it as a final ‘gift’, doing it for their child’s future. Their view was that the more information the parents could supply, the better equipped that child would be if she or he ever needed their family history to provide a diagnosis for themselves or their children.
Professional frustration at these obstacles was demonstrated by one social worker’s story of an adopted child’s long diagnostic odyssey that knowledge of family history could have avoided: … the family went on holiday and he collapsed … from that point on there was a multitude of tests and hospital admissions because they couldn’t find what was wrong with him… little boy was subsequently diagnosed with Duchenne Muscular Dystrophy… when we looked further into it … there was a male cousin who had been diagnosed with Duchenne Muscular Dystrophy but it hadn’t been disclosed. (Participant 8)
Quality and reliability
After information had been obtained, both social workers and medical advisers felt there were still gaps in quality and reliability, leaving uncertainty for the looked after child. The information given by birth families was generally reported by the child’s biological parents. This relied on individuals having accurate knowledge of their own family medical history, having open communication with other family members and understanding the relevance of that information for their children.
This was also the case for information received from GP records, where medical advisers might uncover references to specific conditions: … there’s a reference here to Mum maybe having a syndrome … we think she’s got this and then nobody mentions it again … definitely lots to follow up … this little one that my colleague has just seen is at risk and isn’t being followed up but then neither is Mum. (Participant 1) I get to hear that although they now know where father is and he’s been traced and may even respond in the court case, nobody has ever taken the effort of giving me any further medical information about that. (Participant 9)
Theme 2: Genetic testing
Testing threshold
Three out of seven medical advisers interviewed described how, in their practice, looked after children would not be treated differently to those living with their birth parents with respect to thresholds for genetic testing. They undertook such testing only when it was clinically indicated, feeling that any other practice would be ethically improper. Nevertheless, they expressed some uncertainty about whether this was the correct approach and questioned their own knowledge. Often these advisers are working in relative isolation: one described having to use common sense to come to decisions surrounding testing, given the small amount of direct experience she had of genetics. Likewise, four other medical advisers interviewed talked of variation in their threshold for genetic testing of looked after children: I do think we do have a lower threshold for assessing [looked after] kids, so for example, if we think ‘Hmm, development’s not quite right’, whereas for other children we might say we’ll wait a bit longer, we’ll watch a bit longer. I think the thinking is, well you’ve almost not got that luxury of time because that uncertainty might make it then difficult to find the right adopter … (Participant 4)
Impact of results
A common question among the professionals was how to deal with ‘uncertain’ results and understand them. They came across CMA results that raised questions of pathogenicity, the interpretation of variable phenotypes and assessing the implications of findings for other relatives, particularly other siblings in care: … we’re finding a greater yield of abnormality aren’t we, when we test kids, than we used to do with the old karyotype? Erm, we get this situation then of trying to determine what the genetic change means … And that can be a real problem in our families; engaging parents then in the testing process, the counselling process … (Participant 4) Yes, because we don’t yet know what’s going to be important, we don’t … and you know CGH array wasn’t around before and there may be things coming up that we need to share. (Participant 1)
Genomic testing
None of the professionals interviewed were in favour of genomic testing ‒ sequencing of the entire genome for looked after children ‒ unless it became the norm within the NHS for all children. They expressed concern that with the uncertainty associated with testing, genomic information would lead to anxiety in individuals, professionals and parents. Both medical advisers and social workers supported this in relation to having their own genome tested. Most often they were not in favour unless it was revealing something that they could be proactive about, such as predisposing cancer genes. They wished to pick and choose rather than revealing all of the information.
One social worker commented on the possible benefits of genome testing: The difficulty being is that sometimes because you’ve only got one side of the story, you’ve only got one birth parent, you don’t know anything about the birth father and so the blood testing would come into its own because then you’re covering both sides aren’t you, so that’s the positive. (Participant 9)
Theme 3: Sharing information
When the information on the looked after child is collated, it is shared by social workers with prospective parents whom they believe to be a suitable match. If the would-be adopters are interested, they have the option of meeting with a medical adviser to discuss the relevant health and family history information. The professionals interviewed reported that most parents took up this opportunity. There were challenges to sharing this information with prospective adopters, in terms of both procedural and moral practice, especially if it carried uncertainty. There were also concerns about how the information might impact on the matching of parents with children.
Open sharing
All parties involved are encouraged to be open with three-way sharing of information between the birth families, professionals and the prospective adopters, which the professionals in this study promoted. Medical advisers and social workers alike recognised a duty that all available information should be shared, particularly with prospective adopters: Well, they should have had as much of, well … as much of the medical information as we’ve got. There’s no benefit to anybody in withholding any information. (Participant 5)
Discussion about how the information was shared with prospective adopters also differed between medical advisers. One used the word ‘bleak’ (Participant 1) as a descriptor of how they presented the information, a sentiment shared by others. They felt it important to demonstrate the worst-case scenario to fully prepare potential adopters for future situations and allow an informed decision. In contrast, another medical adviser described painting a ‘positive light’ for adopters, trying to encourage excitement rather than anxiety about the future with the looked after child.
One of the concerns about the procedure of information sharing was confidentiality. Information has been collated on not just the child but other birth family members and this was being provided to individuals who were not genetically related and who might, in the end, decide not to adopt the child in question: … we’re in this difficult situation where we’re having to often share information with individuals that aren’t sort of genetically related to the child, um and you might say, ‘Oh well, that’s a bad thing to do, we should never do that,’ but there is a duty upon us … to share relevant information with prospective adopters. Um, and if we don’t do that, if we keep information away from them, that can cause problems. (Participant 4)
Sharing uncertainties
Genetic testing can give rise to uncertain results. All the professionals described challenges in explaining results to prospective adopters, as well as disclosing their limits – what is not known: I wouldn’t say it’s made a huge difference but it has made a challenging difference in how to explain it to the social worker and to the adoption team and to the adoptive parents, when it’s something that maybe we don’t really understand, especially when it has relatively unknown significance … (Participant 1) We’ve had no contact and they don’t turn up at all to any of the meetings or anything. It’s very difficult … so yes, it is like putting your hand in a pot and not quite sure … what you’re pulling out of it. (Participant 5)
Without a basic understanding of genetics, social workers were sharing the information as described to them and both social workers’ and medical advisers’ skills in conveying these uncertainties varied. A large part of the concern among both parties was whether they were doing the right thing. They were aware of the influence their role could have on a successful match for a child: … because I don’t think we do it with any confidence … because we are frightened of saying the wrong thing. You know you just know if you say the wrong thing that … that’s somebody’s life, that’s the rest of their life if you say the wrong thing and they make a decision on the basis of what I’ve said … (Participant 2)
Impact on the success of placements
In cases where no medical problems were identified, medical advisers described prospective parents as not being particularly concerned about family history and genetic information. It was more important for them to understand the practical details about the child regarding specific conditions and the support and management needed. All professionals felt that successful matches were made between parents willing to accept uncertainty, adapt their expectations and deal with the information appropriately: I remember talking to one set of adopters here and the adopter said that’s fantastic odds, for not getting schizophrenia. I think well, I said you’re the one that can judge that … if you can almost parcel it away, put it on the shelf and forget about it … then you’re the right match. But if you cannot get away from the fact that you’re watching this child in case they might develop schizophrenia, then you’re probably not the right match for the child. (Participant 1) So the genetics side of it has not been sort of as important to those particular people as having the children, loving the children, looking after the children and trying to give them the best possible life they can. (Participant 13)
Theme 4: Professional practice
As previously demonstrated, professional practice has been questioned throughout the process of obtaining and sharing genetic information in relation to both knowledge and confidence in the relevant procedures.
The medical advisers often answered questions about their own practice, uncertain of whether their answer was correct: ‘I just don’t/can’t do that. I’m sure nobody else does. Tell me if anyone else does. (Participant 11)
Two participants mentioned supporting professional bodies but neither described deriving any benefit from this. The first, a social worker, told of the British Association for Adoption and Fostering (BAAF) practice note providing guidance on genetic testing and adoption (BAAF, 2006). However, despite being aware of it she or he had not read the contents. The second, a medical adviser, discussed the issues of confidentiality and sharing information mentioned in an earlier theme and how the General Medical Council (GMC) would question this practice but may be unable to provide advice for this issue.
Commonly, both medical advisers and social workers felt that they did not have enough education in genetics. For social workers, the concern over their genetic knowledge was at the forefront when sharing information with prospective parents: I do notice that from the information that we are getting through at the moment … it’s just initials really, means nothing to any of us at all … so it’s kind of like ‘Wooh! How is that going to impact?’ … and it’s scary because it’s the unknown for them and it’s the unknown for us as well so, you know, we’re not particularly good at supporting them … (Participant 2)
All the professionals interviewed asserted, directly or in discussing case scenarios, that they (as a group) required more support and training. Medical advisers knew that if they were uncertain they could contact the Medical Genetics department and all of them mentioned a contact there. However, there were variable thresholds for when they would refer a case. One medical adviser described clinical geneticists as being the more experienced in assessing dysmorphic children and would refer to them for advice, whereas another thought they had the capability themselves and felt the referral time and waiting list in genetics departments would not be suitable for the adoption timeline. They were nevertheless appreciative of the advice and information provided by clinical geneticists when this was accessed.
Social workers expressed a general appreciation for the genetic departments’ interventions in cases. Two participants described the usefulness of case letters written by consultant geneticists which gave them a way of describing the necessary medical information about the looked after child. At the same time, they requested more resources and more training to support their genetic knowledge and reduce risk, which reiterates the difficulties discussed earlier of obtaining, interpreting and using the information effectively.
Discussion
This study provides insight into the challenges of seeking family history and appropriate use and interpretation of genetic information in adoption in Wales. Adoption is an interdisciplinary practice and our research shed light on the opinions of both medical advisers and social workers. The professionals interviewed reflected some of the challenges identified in the literature but went further in demonstrating a deeper lack of confidence in both their knowledge and their skills.
The professional accounts demonstrate how challenging it is to gain sufficient reliable information concerning family history and health information about the looked after child. This was highlighted especially in relation to obtaining consent to share such details and disclose genetic information to individuals who are not genetically related to the child. However, our research goes further in demonstrating that these challenges are complicated by inconsistency in how and by whom family history information is collected. Gathering such information is a skill and despite significant advances in testing technologies, family history remains the most important ‘genetic test’ available. It is unrealistic to expect that everyone with a family history of a genetic condition will always comprehend the risks to themselves and their family members. Uncertainty arising from this information, and in the understanding of it by professionals and prospective adopters, will often require management and negotiation as well as an acceptance that uncertainties will remain. Nevertheless, professionals obtaining this information can be trained to ask questions which best explore these potential risks and when to seek more expert advice.
There was also concern about the sharing of information. Medical advisers reported unease that they were making assessments and sharing information without all of the relevant knowledge of the looked after child’s family history. Current adoption practice leads to different disciplinary teams working independently and only coming together at a final matching panel meeting to pool information and make a decision on the adoption. Professionals reported that this hinders the sharing of potentially important details among them, with the risk of drawing inaccurate conclusions. Those in this study felt they were working at the limit of their knowledge and lacked confidence in their grasp of best practice and procedures. They also reported relying on their own experience and having ‘to use a lot of common sense’ (Participant 10) to interpret genetic information and choose appropriate actions when other support was not available.
The actions of the medical advisers are morally bounded but as one of the advisers pointed out, there is concern that if the GMC looked at their level of disclosure of confidential information to unrelated individuals, questions might be raised. Presumably this participant was referring to the GMC guidance, Good Medical Practice, which outlines medical professionals’ obligations in terms of patient confidentiality (General Medical Council, 2013). Without definitive guidance about the disclosure of information in the specific context of adoption, tension between respect for confidentiality and openness can build. The professionals interviewed reported feeling that they carried a lot of responsibility, especially the duty to protect the best interests of the child.
When professionals undertake genetic testing in looked after children, further information can become available that it is important to share. The medical advisers indicated that they carried out genetic testing only when it was clinically relevant, as advised in current British and American Genetic societies (ASHG/ACMG, 2000; Botkin, et al., 2015; BSHG, 2010). There was a shared opinion among the professionals that the best adopters for children were those who could deal with uncertainties rather than needing a definitive, predictive test result (Newson and Leonard, 2010). This supports findings by Dewell (2012) in her study of professionals within the field of adoption. At the same time, there was variation in practice and some professionals allowed the looked after status of children to modify their decisions about the timing of testing. Earlier testing could provide increased certainty for the looked after child in matching and might fit into the adoption timeline; some medical advisers felt this justified adjusting their practice, for example, performing CMA early in the assessment of a child with delayed development.
Medical advisers, who are paediatricians with uneven knowledge of genetic practice, admitted that uncertain results including variable phenotypes and variants of uncertain significance are challenging. For social workers with limited genetic knowledge, the process of interpreting and understanding test results was difficult. They feared that misinterpretation of the information then passed to prospective adoptive parents could have a negative impact on matching.
Despite fears of this negative influence, professionals reported that, in general, prospective parents placed little importance on genetic testing. This contrasts with the case report of Hamilton and colleagues (2015) who described a negative impact on a potential match of a CMA result. The professionals in this study emphasised the importance of establishing with prospective parents what kind of child they could offer a home to, including family history and medical conditions, and any additional needs they could manage as parents. This process occurs prior to the sharing of specific information about children. They emphasised that prospective parents, once matched with a child, were reportedly unperturbed by any uncertainties subsequently raised about that child. In this scenario, cases like that of Hamilton and colleagues (2015) should not arise as prospective parents would not have been matched with a child undergoing testing if they were not prepared for this. However, as May (2015) demonstrated, the medicalisation of society is increasing the curiosity of potential parents with respect to the implications of genetics in adopted children. May’s US perspective also is likely to reflect the experiences of potential parents in the UK. Challenges will increase as awareness of genetic testing grows, particularly ‘direct-to-consumer’ testing, a concern of the professionals for the future.
Throughout the themes uncovered by the interviews, there was a call among professionals for further training and increased multidisciplinary working. Both medical advisers and social workers believed that current practice is variable and while it may be difficult to change standard procedures, training could improve the capabilities of the individuals in obtaining family history information, understanding what may be relevant and obtaining consent to share information, deciding on the appropriateness of genetic testing and sharing these details with prospective adopters in sensitive situations.
Social workers expressed concern that misunderstanding of genetic information may result in their misrepresenting information about the child when communicating with prospective parents. This supports current narratives regarding the importance of educating other professionals who are now using genetic information in mainstream medical care and encouraging links between the departments to improve clinical care (Mahon, 2015). Paediatricians, who often have clinical experience of genetic disorders, discussed the value of close communication with their local clinical genetics department. Yet it was clear that thresholds for seeking support from specialist genetics services were variable. Reasons for this include paediatricians’ own confidence in managing complex genetic information and the nature and availability of professional relationships between individual paediatricians and the local genetics service. Social workers did not have this link and reported not having training in genetics despite having to utilise such information within fostering and adoption.
There is a clear need for training and increased liaison between other departments or agencies, such as the local authority, with local genetics services. In 1992, a series of papers published in the Journal of Genetic Counseling proposed introducing training workshops for social workers (Burns and Reiser, 1992; Delp and Kaepernick, 1992; Rauch and Plumridge, 1992). Although this research was in the context of the 1990s US adoption system and has only limited parallels with current practice in Wales, the fundamental principles of their genetic training could help guide new training programmes. These studies demonstrated improvements in family history after professionals had done the training workshops. While local programmes may exist in the UK, formal professional education for social workers with respect to genetics has not been widely taken up.
Methodological considerations
This study focused on a small number of social workers and around half the medical advisers based in Wales. However, while opinions differed among the professionals, the concerns that they raised and discussed were common. There may also have been some bias on the part of participants. For example, the medical advisers described practice they would expect from a ‘good social worker’. The social workers interviewed discussed and gave examples of ‘good’ practice, highlighting that maybe those who chose to participate would be more proactive in furthering research on this topic as well as in their own practice. Consequently it is possible that recruitment was biased towards professionals with better practice.
In addition, in any interview-based study addressing professional practice, it is apparent that individual interviewees will be giving an account of themselves and so may take care to ensure a good self-presentation as a competent and concerned professional, just as any research interviewer will wish to convey both their competence and their compliance with high ethical standards. The researcher tried to put participants at ease when asking direct questions about their own practice, using counselling skills such as unconditional positive regard to encourage honest answers.
Conclusions and future work
This study provided important evidence regarding the practice and views of social work and medical professionals working at the frontline of adoption, grappling with the reality of this task. Participants universally appreciated the central importance of family history information; however, the inherent challenges and practicalities of collating good quality background information were clearly described. Both uncertainties and concerns about information collecting and sharing, and about the role of genetic testing practices, formed key areas for consideration.
Both social workers and medical advisers acknowledged the limits of their own knowledge with respect to genetic testing, with some also stressing the absolute limit of what such information was able to offer. All were in favour of training and increased professional links to provide information and advice on genetic conditions in looked after children. This highlights a need for training that could be addressed through outreach and local collaboration between professionals working in clinical genetics and those at the frontline of adoption work.
Future research needs to study the opinions of prospective adoptive parents and the importance they place on genetic information in their search for a child. Work has addressed adoptive parents’ opinions following an adoption, but little attention has been paid to prospective adopters as they await matching.