Background

Clinical genetics is a rapidly expanding field in the UK, and genetic clinics provide advice to individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. The Genetics service at Guy’s hospital is unique in setting up embedded clinical psychology posts to provide support to patients undergoing genetic testing and living with test results, and there are currently 1.6 wte clinical psychologists in post. This paper describes the roles of the Clinical Psychology Team as well as reflections on working in this highly interesting and exciting field relevant to the UK as NHS genomic medicine services evolve. Integration of clinical psychology within clinical genetics is known in some European centres such as in the Netherlands but is less well established in the United Kingdom.

Patient care

The extent of psychological need - psychosocial issues experienced by people living with a genetic diagnosis

Patients who have been diagnosed with a genetic condition face multiple challenges and a range of psychosocial issues. Leading up to the diagnosis they may have encountered losses of family members due to the genetic condition, and there may be difficulties in deciding whether to have a genetic test, as well as telling family members, friends, and partners about the possibility of an inherited condition. Health-related problems can leave patients feeling out of control and with a sense of increased vulnerability which may lead to low self-esteem and feeling isolated and stigmatized, with an inability to cope with day-to-day problems.

While testing is being conducted patients can face long waits before they get results. Whilst the majority of people find way to cope with the wait, for some the level of uncertainty can be destabilising or exacerbate existing mental health conditions and health anxiety. The wait for results can also connect people to family illness histories and bereavements.

After being diagnosed with a genetic condition patients may encounter a range of emotions such as numbness, anxiety, and guilt, [1, 2] to grief and distress [3, 4]. With more clinical testing now available, tests are being done on people without requiring so much family history as might previously have been the case, which can mean that finding an inherited mutation may be more of a shock that requires more education and support. Direct-to-consumer testing further complicates this because typically there is no counselling provided and patients therefore sometimes misinterpret the results.

It is worth noting that testing can also have a positive impact, such as informing preventive risk management or providing a sense of relief of having an explanation for major family illness [5]. Furthermore, some people find knowing their results helpful and empowering. However many patients experience negative or mixed emotions.

The need to take an individualized approach has been emphasised more recently, in order to take into account factors such as the purpose of seeking testing, numbers of disorders tested for and their characteristics, level of certainty associated with a test, level of affected family members, method of delivering test results and the age of patient [6]. Researchers are emphasising that patients need to have a chance to discuss their personal experiences of testing [7].

How can psychology help?

Many authors in the field recommend that psychological support and counselling should occur alongside delivering genetic test results in order to focus on support issues such as considering risk management options or support for parents sharing genetic results with children [e.g., 8]. Additionally, in relation to cancer genetics patients, for example, the NICE Guidelines in 2013 [9] stated that, “Patients considering risk-reducing surgery should be managed by a multidisciplinary team”, including “psychological assessment and counselling”. Research typically finds that around one-third of genetic counselees express a need for further psychological support [10]. Such additional support is associated with high-quality decision-making [4] as well as satisfaction with treatment [11] and a good sense of personal control over dealing with uncertain information [12]. Psychosocial and educational support groups have also been found to make a positive impact on mood and other psychological outcomes for a range of conditions including Huntingdon’s disease [13]. These types of groups can also facilitate family communication and promote better coping and adaptation to living with an inherited genetic condition for families [14]. Attention to psychological needs is therefore key component of satisfaction with genetic counselling services [15].

Psychological assessment and intervention

Clinical psychologists are uniquely trained in a range of psychological interventions and therefore can offer a variety of therapeutic modalities when it comes to treating patients in the Clinical Genetics Service. We follow a stepped-care model in order to best match patient need and preference with clinical need and professional expertise. A stepped approach to psychological care is recommended by NICE guidelines for people suffering from depression and anxiety disorders and other common mental health disorders attending IAPT (Improving Access to Psychological Therapies) services [16]. Clinical psychology input within the service is mainly provided at the Step 3 level which is targeted at people with moderate psychological needs and this is where we provide most support for Clinical Genetics patients. We also help with Steps 1 and 2, i.e., supporting clinicians with screening, signposting to IAPT services, or providing self-help materials. We may also provide low-intensity support for specific genetic-related issues, where it may be better to see the patient in the Genetics Service rather than IAPT. Step 4 services are usually provided by Community mental health services (CMHT), and/or some IAPT services. However, we may also provide time-limited interventions for specific genetic issues in conjunction with any treatments occurring in the CMHT or IAPT. In brief, we tend to see patients who have more complex difficulties rather than normal adjustment issues to diagnosis.

We currently will offer up to six therapy sessions. In rare cases, e.g., where a crisis occurs during treatment, a further limited number of sessions may be offered to support the patient and help to link them in with ongoing support if necessary. Intervention is also offered to families and couples, however, relatives and partners are not seen independently from the patient (unless they have a separate genetic referral in their own right). If a young person or sibling is not attached to a specific clinic/service offering psychological support then, the Psychology Team will complete an assessment to see whether the service can appropriately offer support. Siblings will require a GP referral

Table 1 shows the types of referral issues that Psychology Team at Guys hospital typically deal with:

Table 1 Issues covered by the Psychology Genetics Team.

Specific psychological interventions

All psychologists are trained in therapies that have strong evidence that they work for large numbers of people. The choice of which therapeutic approach is used is influenced by several factors including choice of patient, preference of therapist, and evidence base for managing particular issues. Approaches include:

Cognitive Behavioural Therapy (CBT)

With regard to genetic counselling, David et al. [17] write that CBT could help deal with many of the situations that arise in genetic counselling appointments. These include increasing health beneficial behaviours, helping clients make informed and realistic decisions, and help with specific difficult life situations and the emotional distress associated with them such as high cancer anxiety or guilt about passing the genetic conditions on to children.

Solution Focused Therapy (SFT)

In physical health settings, SFT has been used successfully with a variety of conditions including cancer [18], chronic pain (e.g., [19, 20]) and people with a range of longer-term health conditions [21]. It is listed in the Department of Health’s NICE Cancer guidelines for Supportive and Palliative Care [22]. In the field of genetics, the approach is a particularly useful way of empowering patients and families to move forward and cope with difficult news and make important decisions around managing risk.

Acceptance and Commitment Therapy (ACT)

Acceptance and Commitment Therapy (ACT) seeks to change the relationship between difficult thoughts and feelings [23] as well as creating a meaningful life while accepting some of the difficulties that come along with it [24]. There has been considerable research showing the effectiveness of ACT in improving the life of patients with cancer for example [25].

From a genetics psychology perspective, ACT can be used to explore ways in which patients can engage in the present moment, be more open to difficult thoughts and feelings whilst going through genetic testing either individually or within the family system. Engaging in values work can be helpful in reconnecting patients with what is important to them and help them to make important decisions about e.g., genetic testing, informing family about testing, and managing their risk.

Compassion Focused Therapy (CFT)

Compassion-focused therapy (CFT) draws on a biopsychosocial understanding of the ways we think and feel, identifying ways to build and foster compassion [26]. Greater self-compassion has been linked to a range of positive psychological [27] and physical health behaviours and outcomes [28]. Within genetics psychology, we draw on CFT to support people in noticing and developing an understanding of the range of emotions that can come up around genetic testing and diagnosis, or the presence of a genetic condition within the family. People are supported to build skills that activate the soothing system, in order to feel more able to cope, feel safe, and engage with care.

Narrative Therapy

Narrative Therapy [29] is an approach that aims to separate an individual from the problem and place them in relation to that problem, by widening and enriching the narratives individuals hold about themselves that can limit their lives, [29, 30]. Narrative therapy has been applied widely in health settings [31] and more specifically in illness and health care settings such as in chronic pain [32] and cancer settings [33].

Within genetics individuals narrative therapy offers ways off working to explore and loosen the grip of (unseen) discourses to which people benchmark themselves and consider themselves failed [34]. Given the level of bereavement in this population, narrative approaches such as “Saying hello again” [35] are extremely helpful.

Implementation of the embedded psychology service

The need for clinical psychology input was formally recommended by the NICE familial breast cancer guidance in 2006 [36] for women carrying high risk gene mutations that were accessing risk-reducing breast surgery. This enabled some funding to be granted for a pilot to establish whether patients would indeed take up this offer of clinical psychology. An annual data capture through our Hereditary Breast and Ovarian Cancer Family Service, demonstrated that almost 50% of patients accepted the offer of clinical psychology.

The Consultant Genetic Counsellor team worked with the Trust cancer services and implemented a pathway model which enabled women accessing risk-reducing breast and risk-reducing gynaecological surgery at the hospital to be offered clinical psychology as part of the surgical pathway. This has now been in functional with support from the surgical cancer services for a decade.

The successful implementation of the cancer genetics psychology service led to an inequity for families and patients with other rare diseases outside the cancer sphere. A further pilot was secured through the Trust transformation and innovation route to establish a further clinical psychologist within the clinical genetics service for a 12-month trial. Ambitious targets around revenue generation were set such as patient numbers, audit and patient feedback which would determine any further substantive funding arrangements. The clinical psychology team in conjunction with the consultant genetic counsellors undertook some pathway work with clinicians. This increased the referrals to clinical psychology over the 12 month duration. Attendance at case discussion meetings and establishing an on-call system for queries really drove up the interest and referrals from clinicians. A successful business case was submitted and the service has now secured permanent funding for 1.6 WTE clinical psychologists. However, the limitation of regional provision of clinical genetics services is that demand has continued to increase for psychology access as patients struggle to access it within their primary and secondary care providers. We plan to review this provision further over the next year to manage current waiting times.

Indirect patient care/Supporting the team

MDT input

We take part in two multidisciplinary ‘one-stop’ clinics for patients with a family history of hereditary breast and ovarian cancer (HBOC clinic), and one for patients with a family history of hereditary bowel cancer (HBCS clinic). Patients see a range of clinicians on the same day (e.g., the Breast Surgeon, Geneticist, Genetic Counsellor, Oncologist) and can opt for a psychology appointment which serves as a screening appointment to assess whether further psychology input is required. We also attend MDT meetings in order to provide a psychological perspective to patient discussions and care plans. We feel that having embedded psychologists within this clinic helps to provide holistic MDT support and removes psychological barriers for patients who might otherwise find it challenging to take up this support. It also helps to embed psychological thinking about patients in the MDT.

Training and development

The psychology team also undertake various training activities for the Clinical Genetics team. For example recently we have provided training in CBT and short-term interventions, psychological impact of high-risk pregnancies and coping with working remotely. We have had a role in supporting staff wellbeing providing training around wellbeing as well as signposting to Trust-wide staff support services. In the future, we plan to offer training workshops to Genetic counsellors around bereavement and managing patient safety from a psychological risk perspective. We regularly attend Genetic team meetings such as case discussion meetings and a psychosocial journal club and are available to provide informal support around case discussions/formulations and managing psychological risk. Being embedded in the team means that we can quickly identify and respond to gaps in psychological knowledge within the team, and also provide informal clinical support which can be crucial to help genetics colleagues understand psychological thinking in relation to patients as well supporting genetics colleagues when difficult psychological issues arise.

Research and audit

Clinical psychologists play a key role in clinical governance research activities ranging from research and audit to service evaluation. For example, we have carried out regular patient satisfaction surveys of the genetics MDT clinics and audits on the uptake of psychology appointments for patients opting for RRM. These have helped to shape the MDT clinics and improve patient satisfaction. We also undertake regular analysis of client activity information to monitor patient waiting times and referral reason.

Screening questionnaires

Clinical psychologists value the regular use of outcome measures pre and post-treatment in order to help monitor treatment effectiveness and to provide further information to inform understanding of patients’ difficulties. We currently use the Patient Health Questionnaire (PHQ-9) [37] and the Generalised Anxiety Disorder questionnaire (GAD-7) [38]. In the HBOC clinic, we also use the BRCA self-concept scale [39] which has been found to be a highly useful way to find out more about the issues which these patients encounter.

Patient feedback

Clinical psychologists are trained in audit and research methodology and currently, we use these skills to carry out regular patient satisfaction surveys for the MDT clinics that we attend. The Psychology Team also currently uses a bespoke satisfaction survey for measuring the impact of psychology sessions. This is based on the Outcome Rating Scale ORS [40]. Data from 2019 shows that the average rating in terms of overall satisfaction with appointments (on a scale of 0–10, with 10 being very satisfied) is 9. Patients have commented that, e.g., “It’s open for me to talk about what I wanted to and to think about practical next steps”, and also, “What’s useful is being able to talk and let feelings out and helping me to realise that I’m doing my best in spite of everything”.

Supervision and line management

Line managing psychologists - it is common in health services for clinical psychologists to be line managed by non-psychologists and this is the case for multiple services at Guy’s and St Thomas’. The Psychology Team in Clinical Genetics is managed by two consultant genetic counsellors. We feel that this is an excellent way to link in with the needs of the Genetics Team, and receive guidance on how the psychology team can best support the team. Supervision arrangements for the Psychology Team are provided by a clinical psychologist from another team in the Trust. As clinical psychologists, we are also training in supervision models and have at times provided brief supervision to Genetic counsellors around specific cases. We also regularly practice co-counselling within the Psychology Team, and the senior psychologists in the team supervise the band 7 psychologist in the team.

Final thoughts

Embedded psychology vs central psychology service

We feel that in clinical genetics, given the prevalence of psychosocial need for patients, it’s highly important to have embedded psychology teams in order to not only improve patient access to psychology support, but to support and empower genetic clinicians to best deliver this aspect patient care. This view is support by NICE which has published guidance on benefit of embedded psychology in health services such as stroke care, e.g., “Psychological care needs to be embedded into team routines—regularly considering psychological aspects of care in discussions, including it in paperwork and involving patients in service improvement; development of psychological skills throughout the MDT is crucial in providing psychological care to all stroke patients seen by the teams” [41].

Over time we have seen a great increase in psychology referrals to the Psychology Team from approximately 33% to 50% of patients opting for a psychology appointment within the MDT clinics, and for overall referrals from the Genetics Team, referrals have nearly tripled (see Fig. 1). While this may in part be due to UK/world-wide expansion and advances in genetics, it could also be due to clinicians in the department becoming increasing aware of patient need for this service through the visibility of the Psychology Team, and a reduced stigma for patients given the easy access to our service.

Fig. 1
figure 1

Figure showing the amount of psychology referrals per year between 2014–2020.

Future directions

The service plans to further develop by offering group interventions and training opportunities to doctoral psychology trainees which will further help to meet the increasing demand for psychology sessions.

Conclusion

Clinical psychologists play an integral role in the provision of psychosocial support for patients with a genetic condition as demonstrated by the current work in the Clinical Genetics Service at Guys Hospital. A short-term therapy model is useful for treating the issues associated with having a family history of a genetic condition. The psychologists are also able to provide indirect patient care as well as formal and informal support to the wider clinical genetics team members. As psychologists, we feel that this is a highly interesting and exciting field to be involved with and it is hoped that the service will continue to develop in ways that fit with the ongoing expansion of Clinical Genetics at Guy’s & St Thomas’ NHS Trust. Psychology provision within clinical genetics can no longer be an afterthought and we advocate for clinical genetics commissioners to consider resourcing clinical psychology as an integral part of the clinical genetics service delivery.