Art & science
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The synthesis of art and science is lived by the nurse in the nursing act
Josephine G Paterson
Providing nursing care and support to individuals and families with genetic/genomic healthcare needs Kirk M, Marshallsay M (2013) Providing nursing care and support to individuals and families with genetic/genomic healthcare needs. Nursing Standard. 28, 16-18, 39-46. Date of submission: December 19 2012; date of acceptance: May 31 2013.
Abstract This is the final article in a series looking at how nurses can develop confidence and competence in genetics and genomics health care. This article focuses on the role of the nurse in providing ongoing care and support for families affected by genetics and/or genomics issues.
Authors Maggie Kirk Professor of genetics education, Genomics Policy Unit, Faculty of Life Sciences and Education, University of South Wales, Pontypridd. Martine Marshallsay Assistant head of nursing, Learning Disabilities Directorate, Abertawe BroMorgannwg University Health Board, Swansea. Correspondence to: [email protected]
Keywords Genetics, long-term conditions, nursing competence, ongoing care
Review All articles are subject to external double-blind peer review and checked for plagiarism using automated software.
Online Guidelines on writing for publication are available at www.nursing-standard.co.uk. For related articles visit the archive and search using the keywords above.
THE JOURNEY THROUGH specialist genetics services, involving making decisions about genetic testing, receiving a diagnosis and coming to terms with it, is significant to patients and family members (Barr and Millar 2003). Nurses have a valuable role to play in signposting people appropriately to genetics services and providing additional support during decision making. However, the genetic healthcare needs of individuals and families do not stop with a diagnosis, nor does nursing care cease with an assessment that has taken account of ‘relevant... genetic and environmental factors’ as required by the Nursing and Midwifery Council (2010). Genetic conditions are lifelong and, therefore, people affected by such conditions and their families need ongoing care and support. This is a fundamental component of nursing and is reflected in competency 8 of the revised framework for genetics/genomics for nurses (Kirk et al 2013a) (Box 1). Examples from stories published on the Telling Stories: Understanding Real Life Genetics website (www.tellingstories.nhs.uk) are used to illustrate the issues raised in this article. These stories have been collected using an ethical framework, and people’s names have been changed to protect their privacy (Kirk et al 2013b).
Importance of this competency In 2010, a consensus meeting was convened of nurses in practice, policy and education, together with patient representatives and genetics
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Art & science competency standards: 8 nurse experts, to review the existing genetics education framework for nurses (Kirk et al 2003). Participants agreed that provision of ongoing care for people affected by genetics and genomics was not adequately reflected in the original framework. This was felt to be an important element of the nurse’s role, sufficient to merit an additional (eighth) competency in the revised framework (Kirk et al 2013a). Most genetic diseases are rare, but it is estimated that around 3.5 million people in the UK at some time will be affected by a rare disease, many of which have a genetic basis (Rare Disease UK 2011). Some conditions are more common, for example familial hypercholesterolaemia affects one in 500 people (Brice et al 2013), and common
BOX 1 Competency 8 Provide ongoing nursing care and support to patients, carers and families with genetic/genomic healthcare needs: Being responsive to changing needs through the life stages and during periods of uncertainty. Demonstrating awareness about how an inherited condition, and its implications for family members, might affect family dynamics. Working in partnership with family members and other agencies in the management of conditions. Recognising the potential expertise of individuals, family members and carers with genetic/genomic healthcare needs that develops over time and with experience. (Kirk et al 2013a)
diseases such as diabetes and cancer also have a genetic component. The increasing availability and scope of genetic testing means that more people are being identified as having or being at risk of developing, or being carriers for, genetic conditions (Skirton and Jackson 2013). At the same time, nurses lack awareness about genetics and confidence in incorporating it into practice (Godino and Skirton 2012). While identifying people who might benefit from referral to genetics services and information is an essential starting point, the growing number of people who access such services highlights the need for follow-on support in mainstream services. Genetics can affect individuals and families at any of the life stages (Table 1). The needs of individuals and families for nursing support is ongoing. Although genetic counsellors or specialist genetics nurses will normally provide follow-up counselling following diagnosis of a genetic condition, this is a discrete episode of care and other nurses should be able to support explanations given as well as patients and families as they learn to cope with the outcomes of investigations. Patients’ and families’ needs may also change over time and nurses should to be able to recognise, reassess and respond to changing circumstances (Box 2). While nurses are used to caring for people with lifelong conditions, they must also be able to appreciate the complexity surrounding living with a genetic condition, from understanding the effect and implications for family members (Box 3), to co-ordinating care across multiple agencies.
TABLE 1 Potential effect of genetics at different life stages Life stage
Effect
Preconception
Testing for carrier status in prospective parents.
Antenatal
Antenatal screening and testing for inherited conditions. Testing for carrier status. Diagnosis of affected fetus. Management of women with genetic conditions, including learning disability.
Neonatal
Neonatal screening and testing for inherited conditions. Diagnosis of a genetic condition (although the infant may be asymptomatic at diagnosis).
Child
Diagnosis of childhood-onset conditions.
Adolescent
Testing for early-onset adult conditions. Transition to adult services.
Adult
Testing and diagnosis of adult-onset conditions. Testing and diagnosis of childhood-onset conditions where testing had been previously unavailable.
Older adult
Children or grandchildren diagnosed with an inherited condition. Death of a young family member as a result of an inherited condition.
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Benefits to patients and patient and/or family care Canam (1993) outlined the challenges facing families adjusting to the diagnosis of a child with a lifelong condition in having to: Accept the child’s condition. Manage the condition on a day-to-day basis. Meet the normal developmental needs of the child. Meet the developmental needs of other family members. Cope with continuous stress and periodic crises. Assist family members to manage their feelings. Educate others about the child’s condition. Establish a support system. A structured review of 34 articles about parents’ experiences of managing children with long-term conditions found that developing skills in managing such conditions was paramount (Smith et al 2013). However, the authors also found that there were difficulties in securing appropriate support in terms of information and resources. Nurses can make a significant difference to patients and families through provision of ongoing care, whether as part of a single episode of care or through longer term involvement, by being aware of the challenges these individuals face. Some examples of the nurse’s role in supporting people affected by genetic conditions are highlighted in the Telling Stories series.
BOX 2 Rob’s story Rob has Von Hippel-Lindau disease. This condition is characterised by predisposition to tumours, particularly in the cerebellum, spinal cord, retina and renal cells. It is an autosomal dominant condition, with a 50% chance that children will inherit it. Rob’s comment highlights the need for extra support: ‘A genetic condition is with you every second of every day and I have to deal with it all the time – it never fades with time. It’s a constant “threat”... although I can get advice on the medical symptoms, I feel a bit lost when it comes to non-medical issues relating to someone with a genetic condition. As the genetics team are busy people, I do feel like I am intruding upon them if I want some help or advice.’
The nurse caring for Charlotte’s daughter, who died one year after being diagnosed at 18 months with cerebella ataxia, a progressive neurological condition, was not afraid to show her compassion for the family’s situation (Telling Stories: Understanding Real Life Genetics 2010): ‘The rage gave way over the weeks of tests to resignation and the beginning of a long goodbye... The nurse I liked most was the one who cried when we talked about how short a time she had left. I loved her for that.’ Yvonne’s granddaughter has SWAN (Syndrome Without A Name), a complex congenital condition of unknown cause. Her health visitor demonstrated commitment and competence in supporting the family (Telling Stories: Understanding Real Life Genetics 2006c):
BOX 3 Paul’s story Paul has an inherited bowel condition, familial adenomatous polyposis, where multiple polyps occur in the bowel and can lead to bowel cancer. As an autosomal dominant condition, Paul’s children have a 50% risk of inheriting the condition. In this extract from his story, Paul shows how he has had to adjust to one thing after another. His daughter was found also to have inherited familial adenomatous polyposis, although one of his sons tested negative: ‘I had had my bowel out and the cancer by that time was well under control and I thought: “Oh that’s it finished with me. I don’t need to worry.” I had a test for freckles behind the eye, which is an indication and they couldn’t find any and I thought “Great”. We came back and we celebrated and although they said it wasn’t a definite clear… It was a week later when I had the phone call to say I had got the gene – which was a bit of a blow – because then we realised with three children… It gets a bit serious, you know. And you’d got the elation of the cancer being OK – and then suddenly they say: “Well, you know, your family could be at risk”.’
Rob needs care from nurses who understand the complexity and unpredictability of a multi-system, long-term condition, who can help co-ordinate multi-agency care, and who can work with him to find information and support relevant to his condition.
Paul has encountered many nurses along his journey – in primary care, on surgical wards, in oncology and outpatient departments, for example. Although each encounter may be for a discrete episode of care, the nurses involved have to appreciate the broader context of the challenges of living with a long-term condition. Paul needs support to understand the implications for his children and his wife of being at risk of familial adenomatous polyposis, and help in dealing with his feelings around this.
(Telling Stories: Understanding Real Life Genetics 2006a)
(Telling Stories: Understanding Real Life Genetics 2006b)
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Art & science competency standards: 8 ‘Our Health Visitor was a tower of strength at this time and she provided a great deal of support for us with referrals and helping with a multitude of forms which had to be filled in.’ Rachel’s cystic fibrosis clinical nurse specialist exemplified the caring, competent nurse, delivering quality, person-centred care (Telling Stories: Understanding Real Life Genetics 2006d): ‘Care from our CF [cystic fibrosis] community nurse. Impeccable. At the end of the phone whenever we need her. Very well informed... Explains lots of stuff for us... Helped set up my daughter’s care plan at pre-school... Couldn’t manage without her.’ One factor that is important to individuals and families in their ongoing care is involvement with healthcare professionals who treat them as a whole person, listening to them and respecting their views. Elizabeth has a family history of breast and ovarian cancer, confirmed following identification of the BRCA2 gene in her aunt. Elizabeth herself was diagnosed with breast cancer, but decided not to undergo genetic testing. She opted for a bilateral risk-reducing mastectomy and oophorectomy, but before making that decision, she did not feel she was always treated as a whole person (Telling Stories: Understanding Real Life Genetics 2011a): ‘It just felt as if they didn’t see me, they didn’t see the person that was in here and not only did they not see, they didn’t always hear.’ This quote highlights the importance of psychosocial support leading up to and following decision making around risk-reducing mastectomy and oophorectomy (Howard et al 2010). Elizabeth now has to go to her GP surgery for annual check-ups and she has developed osteoporosis as a result of the early oophorectomy. It will be important that any primary care nurses involved in monitoring Elizabeth’s condition are aware of her complex background and the effect it has had on her and her family. Rare Disease UK (2011) found that care for patients with rare diseases is often not provided holistically and does not always consider their non-medical needs. Furthermore, 71% of respondents to a survey on patients’ and families’ experiences of rare diseases did not feel they received sufficient psychological support in relation to their condition (Limb et al 2010). Work by
McAllister et al (2007), exploring the emotional effects of genetic conditions, underlines the importance of receiving such support. Emotional effects identified included anxiety, worry, guilt, anger, uncertainty, sadness, grief and depression. Nurses need to be able to deliver holistic care that incorporates knowledge and skills about genetics and genomics and the spectrum of its effect on health, wellbeing and lifestyle. There are examples across a number of specialties where experienced nurses are achieving this, including cancer nursing (Calzone et al 2010, Santos et al 2013), diabetes nursing (Shepherd et al 2003) and cardiac nursing (Watts et al 2009). Additional genetics education is central to this extended role. Burke et al (2012) outlined an education strategy tailored for experienced haemophilia nurses to address the needs of practising nurses hoping to incorporate genetics into their everyday role. Following an education session on genetics tailored to their needs, the haemophilia nurses who attended felt significantly more confident in incorporating genetics into their practice.
The nurse’s role Table 2 identifies significant episodes in the lives of people affected by genetic conditions where the need for competent nursing care may be greatest, be it in the primary or secondary care setting. The nursing role is outlined for each situation, but it is important to note that recognising transitions in people’s lives is an integral part of this, anticipating when changes in circumstances (medical, social, emotional and psychological) may trigger changes in healthcare needs. As indicated in Table 2, some aspects of the role will require experience on the part of the nurse, for example in becoming familiar with the inherited conditions most likely to be encountered in practice, or with local contacts and support groups. For other elements, the nurse is likely to have to undergo additional genetics training, for example to promote confidence in taking, drawing and interpreting a family history, and recognising the mode of inheritance to triage patients, or to give advice about tests. Oliver and Skirton (2010) outlined the role of specialist cardiac genetics nurses, emphasising their important part in providing psychosocial support and in educating other healthcare professionals about inherited cardiac conditions. The primary care nurse or specialist nurse, who may work in primary, secondary or tertiary care, may be more likely to take the overarching co-ordinating role, liaising with other agencies,
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TABLE 2 Role of the nurse in providing care for people affected by genetic conditions Episode
Notes
Nursing role
Onset of symptoms raises concern
May be identified by the patient, family member or healthcare professional. May occur at any life stage.
Identifying individuals who might benefit from genetics services or information. Ensuring patient’s and/or family members’ concerns are heard and acted on. Recognising and learning from the expertise of individuals and families. Knowing how and when to refer to genetics services.
Diagnosis in a close relative
Family members may be unaware of the implications for themselves. Family members may not wish to know about their own risk. Family members may not communicate with each other.
May be involved in breaking bad news and communicating sensitively with the family.
Deciding about whether to undergo testing
Pressures may arise because of a limited timescale, for example during pregnancy, or from other family members.
Acting as an advocate in upholding the individual’s right to informed decision making.
Awaiting a test result
Timescale will vary according to the test and its complexity.
Providing empathic support.
Diagnosis in a patient
Diagnosis may be unexpected. No diagnosis may be made. Outcome may be uncertain. Diagnosis may be in addition to diagnosis in other family members, including children or siblings.
*Providing additional support and explanations to reinforce interventions from genetics services. May be involved in breaking bad news. Appreciating the effect of a diagnosis on all family members and understanding different family members may respond in different ways. Being aware of the psychological effects of a diagnosis, including feelings of anger, guilt and blame and the effect this can have on family dynamics.
Adjusting to day-to-day management of the condition
There may be one or more children in a family affected by the condition. Developmental and emotional needs of other siblings also need to be met.
*Co-ordinating multi-agency care. Working in partnership with the individual and/or family to promote self-management. †Providing and communicating accurate and balanced information about the condition and signposting to support groups, using communication and counselling skills to do so at the individual’s own pace. Delivering community-based care. Listening to the family and acting as advocate in mobilising appropriate care and resources. Mobilising practical support, with breaks or respite care for patients, siblings and families.
Periodic crises in the course of the condition
Trajectory of the condition may be uncertain. Hospitalisation may be required.
*Being familiar with the typical course of conditions of patients on the nurse’s caseload or in their care setting. *Recognising signs of impending crisis, or predisposition to crisis, and acting promptly to ensure timely referral where necessary. Delivering acute nursing care, seeking information about the patient’s underlying condition as necessary.
Illness of main carer
Carers becoming ill can precipitate a crisis because the patients’ needs remain.
*Co-ordinating multi-agency care in supporting both carers and patients. Delivering respite care.
Transition across services
Transition across schools. Transition to adult services. Transition to maternity services. Transition to end of life care.
Death of affected family member
Death is usually anticipated, but for some inherited cardiac conditions, sudden death may be the first indication of genetic disease.
Assessing and responding to changing needs. *Co-ordinating and promoting effective multiprofessional care and communication for: Children, especially for those with conditions where previously transition to adult services was uncommon. Pregnant women with rare conditions moving into maternity services. Individuals of all ages moving to end of life care. Providing bereavement support for family members, including children and grandparents. Acting sensitively in raising the possibility of the need for referral to genetics services for other family members.
*This role could be reasonably expected of an experienced nurse. †This role might form part of an extended role, with the nurse having undergone additional training in genetics.
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Art & science competency standards: 8 including genetics services (Box 4). However, all those who encounter the patient and family, whether for a discrete episode of care or over a longer timescale, should have the basic knowledge and skills as outlined in this series, to deliver competent care, being non-judgemental and supporting the patient and family as they adjust to new circumstances.
Achieving this competency Genetic conditions can be complex, can affect more than one family member and can affect families at any life stage. Their trajectory can often be uncertain and this is compounded when the diagnosis itself is uncertain. Families affected by genetic conditions will interact with nurses at multiple points over time, with community-based nurses, in particular, often building a relationship with the family over an extended period of time. According to Kirk et al (2011), to provide competent ongoing care and support, nurses need to be able to: Demonstrate knowledge and understanding of genetics and genomics appropriate to the life stages when carrying out a nursing assessment and providing care. Incorporate a knowledge of inheritance risk and the effect on family dynamics when anticipating potential issues and planning care.
BOX 4 Co-ordinating care: a case study Amy and her partner Stephen, who have been together for four years, have decided they want to have a baby. They both have learning disabilities and Amy has Down’s syndrome. Samira is a community learning disability nurse and she accompanies Amy and Stephen on a visit to the regional genetics centre to talk to a genetic counsellor about their reproductive options. Samira has already spoken to the genetic counsellor to ensure that any information available to the couple will be in an easy-to-read format and she liaises with the speech and language therapist in the learning disability community support team. After the appointment, Samira can use the information to go over what was said at the appointment to make sure Amy and Stephen have understood what their choices are. As a community learning disability nurse, Samira is responsible for providing ongoing care and support for Amy and Stephen. She recognises that the couple’s needs have changed in deciding they want to have a child and has worked in partnership with genetics services, other healthcare professionals and the couple, to manage this next period in their lives. She is also acting as their advocate, to uphold their rights to make this decision, and to be appropriately informed in doing so as in competency 3 (Goldsmith and Skirton).
Recognise their own role and contribute effectively in a team to the co-ordination of care, taking a leading role when appropriate. Actively seek advice from the individual or family members to address care needs. Work in partnership with families. Detailed knowledge of genetics is not necessary, but the nurse needs enough knowledge and understanding of the role of genes and chromosomes in health and disease to be able to reinforce information given to individuals and families by genetic specialists, and to know where to go to obtain further information. Likewise, it is important for nurses to understand how genetic conditions are inherited and the chances that other family members may be affected (Tonkin and Skirton 2013). However, the most important element of ‘scientific’ knowledge is to be able to translate it into the effect it has on people. For example, Rhiannon, whose first daughter died from spinal muscular atrophy explained (Telling Stories: Understanding Real Life Genetics 2009): ‘If you could teach people that a genetic disorder can be catastrophic and people somehow need to process the information they are giving them so they may need to write things down, repeat things or explain even the most basic things.’ It is also important to be aware that different family members will respond differently to particular events, such as decisions around testing and their reactions to a diagnosis. They may also make different choices, often related to personal experiences. As noted previously, many people indicate that, outside of the genetics specialty, they do not necessarily expect healthcare professionals to be experts (Burke et al 2007). They do appreciate honesty, being respected and being given the opportunity to work in partnership with healthcare professionals involved in their care (Box 5). The development of a therapeutic relationship must be founded on trust and part of the nursing role is to nurture this, being truthful about limitations to knowledge and being open to learning alongside the family. Yvonne gave the following advice to doctors and nurses when dealing with the unknown, such as her granddaughter’s rare condition (Telling Stories: Understanding Real Life Genetics 2006c): ‘Please don’t be afraid to ask the parents and to talk about the child’s needs... We deal with the child each day and we are aware of the changes
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which you don’t see. Please listen to us. Don’t be afraid to say that you don’t know.’ Yvonne’s words reinforce two of the central strands to competence in providing ongoing care: working with families as partners and recognising the expertise of family members.
Further information Genetic Alliance UK (www.geneticalliance.org.uk) and Contact a Family (www.cafamily.org.uk), as well as disease or syndrome-specific support organisations, offer valuable information and support for patients and healthcare professionals. Care needs to be taken because some websites may give subjective information and it is important that nurses critically appraise sites before signposting these to patients and families (Fairgrieve and McDonnell 2013). National organisations may also provide information on care, such as the National Institute for Health and Care Excellence (2012) guidelines for the management of acute painful sickle cell episodes. Perhaps the best source of information for nurses who wish to develop competence in providing ongoing care is from patients and families themselves. There are now several websites where people’s stories about genetics may be viewed. Cincinnati
BOX 5 Nancy’s story Nancy’s son Dean had schizophrenia. His father was diagnosed with Huntington’s disease only six weeks before he died and Dean was informed of this diagnosis by letter. Dean’s brother subsequently tested positive for the condition, but Dean tested negative. Dean could not cope with the effect of this news and committed suicide. Nancy summarises some basic steps where healthcare professionals can make a difference: ‘Be honest if you do not know something – admit it but try to find out more if you can. Do not underestimate the profound effect on mental health this kind of news can have. Sometimes people just want to talk even if they know you can do very little. Try to keep appointments if possible. Again, you may be the only person that your patient can really talk to.’ Nancy’s story illustrates that family life is complex and a genetic diagnosis adds to that complexity. The community psychiatric nurse involved in Dean’s ongoing care would have had a significant role in supporting Dean following receipt of the letter. He or she would have needed to understand the implications of Dean’s father’s diagnosis for Dean and his brother, and the potential effect of this on Dean, applying that knowledge to inform care planning. (Telling Stories: Understanding Real Life Genetics 2011b)
References Barr O, Millar R (2003) Parents of children with intellectual disabilities: their expectations and experience of genetic counselling. Journal of Applied Research in Intellectual Disabilities. 16, 3, 189-204. Brice P, Burton H, Edwards CW, Humphries SE, Aitman TJ (2013) Familial hypercholesterolaemia: a pressing issue for European health care. Atherosclerosis. 231, 2, 223-226. Burke S, Barker C, Marshall D (2012) Developing education tailored to clinical roles: genetics education for haemophilia nurses. Nurse Education Today. 32, 1, 52-56. Burke S, Bennett C, Bedward J, Farndon P (2007) The Experiences and Preferences of People Receiving Genetic Information from Healthcare Professionals. NHS National Genetics Education and Development Centre, Birmingham.
Calzone KA, Cashion A, Feetham S et al (2010) Nurses transforming health care using genetics and genomics. Nursing Outlook. 58, 1, 26-35. Canam C (1993) Common adaptive tasks facing parents of children with chronic conditions. Journal of Advanced Nursing. 18, 1, 46-53. Fairgrieve S, McDonnell S (2013) Genetics and genomics: obtaining and communicating information. Nursing Standard. 28, 15, 37-42. Godino L, Skirton H (2012) A systematic review of nurses’ knowledge of genetics. Journal of Nursing Education and Practice. 2, 3, 173-184. Goldsmith L, Skirton H (2013) Genetics: advocating for the rights of all individuals to informed decision making and voluntary action. Nursing Standard. 28, 11, 37-41.
Howard AF, Bottorff JL, Balneaves LG, Kim-Sing C (2010) Women’s constructions of the ‘right time’ to consider decisions about risk-reducing mastectomy and risk-reducing oophorectomy. BMC Women’s Health. 10, 24. Kirk M, McDonald K, Longley M, Anstey S (2003) Fit for Practice in the Genetics Era: A Competence Based Education Framework for Nurses, Midwives and Health Visitors. University of Glamorgan, Pontypridd. Kirk M, Tonkin E, Skirton H (2011) Fit for Practice in the Genetics/Genomics Era: A Revised Competence Based Framework with Learning Outcomes and Practice Indicators. A Guide for Nurse Education and Training. NHS National Genetics Education and Development Centre, Birmingham. Kirk M, Tonkin E, Skirton H (2013a) An iterative
consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK. Journal of Advanced Nursing. Doi: 10.1111/ jan.12207. Kirk M, Tonkin E, Skirton H, McDonald K, Cope B, Morgan R (2013b) Storytellers as partners in developing a genetics education resource for health professionals. Nurse Education Today. 33, 5, 518-524. Limb L, Nutt S, Sen A (2010) Experiences of Rare Diseases: An Insight from Patients and Families. Rare Disease UK, London. McAllister M, Davies L, Payne K, Nicholls S, Donnai D, MacLeod R (2007) The emotional effects of genetic diseases: implications for clinical genetics. American Journal of Medical Genetics. Part A. 143A, 22, 2651-2661.
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Art & science competency standards: 8 Children’s Hospital Medical Center (tinyurl. com/RelevantGenetics) provides five freely accessible stories, including one on bipolar disorder and another on Alzheimer’s disease. The Cancer Genetics Storybank (www. cancergeneticsstorybank.co.uk) is an online collection of digital stories from patients about inherited cancer. The Telling Stories website (www.tellingstories.nhs.uk) has 100 stories from people whose lives are affected by genetic conditions in some way. Each story provides some insight into what it is like to have, to live with or to care for someone with a genetic condition. However, the best source of information is that which is relayed directly to the nurse. During the course of his or her career, a nurse will encounter many people with genetic conditions, or conditions in which genetics plays a significant part. Nurses should talk to these individuals about their experiences. As Smith et al (2013) noted, carers develop considerable expertise in learning to manage their ‘family
National Institute for Health and Care Excellence (2012) Sickle Cell Acute Painful Episode: Management of An Acute Painful Sickle Cell Episode in Hospital. Clinical guideline No. 143. National Institute for Health and Care Excellence, London. Nursing and Midwifery Council (2010) Standards for Pre-Registration Nursing Education. Nursing and Midwifery Council, London. Oliver J, Skirton H (2010) Familial dilated cardiomyopathy: effective management of the family to improve prognosis. British Journal of Cardiac Nursing. 5, 5, 224-228. Rare Disease UK (2011) Improving Lives, Optimising Resources: A Vision for the UK Rare Disease Strategy. Rare Disease UK, London. Santos EM, Edwards QT, Floria-Santos M, Rogatto SR, Achatz MI, MacDonald DJ (2013) Integration of genomics in cancer
care. Journal of Nursing Scholarship. 45, 1, 43-51. Shepherd M, Stride A, Ellard S, Hattersley A (2003) Integrating genetics into diabetes care: a new role for DSNs. Journal of Diabetes Nursing. 7, 8, 289-292. Skirton H, Jackson L (2013) Utility and limitations of genetic/genomic information and testing. Nursing Standard. 28, 13, 45-49. Smith J, Cheater F, Bekker H (2013) Parents’ experiences of living with a child with a long-term condition: a rapid structured review of the literature. Health Expectations. Doi: 10.1111/hex.12040. Telling Stories: Understanding Real Life Genetics (2006a) Rob’s Story: Living with Von Hippel Lindau. www.tellingstories.nhs.uk/stories. asp?id=10 (Last accessed: December 3 2013.) Telling Stories: Understanding Real Life Genetics (2006b)
condition’, but this expertise is seldom valued by healthcare professionals.
Conclusion While regional genetics services play a vital role in specialist care, interactions tend to be linked with discrete episodes of care, particularly around genetic testing and diagnosis. Nursing care can provide a trusted and informed constant in the lives of people and families affected by genetic conditions. To provide high-quality ongoing care and support, nurses need to understand the challenges such people face throughout their lives NS Acknowledgements At the conclusion of this series of articles on genetics and genomics, Professor Maggie Kirk wishes once again to thank Professor Heather Skirton and Dr Emma Tonkin for their help in planning the series.
Bowel Cancer – How Genetic Information Can Help Reduce the Risk. www.tellingstories.nhs.uk/ stories.asp?id=38 (Last accessed: December 3 2013.) Telling Stories: Understanding Real Life Genetics (2006c) Syndrome Without A Name: A Grandmother’s Tale. www.tellingstories.nhs.uk/ stories.asp?id=16 (Last accessed: December 3 2013.) Telling Stories: Understanding Real Life Genetics (2006d) ‘We Can’t Be Normal Parents’. www. tellingstories.nhs.uk/stories. asp?id=20 (Last accessed: December 3 2013.) Telling Stories: Understanding Real Life Genetics (2009) Rhiannon’s Journey: Receiving A Diagnosis Through to Prenatal Testing. www.tellingstories.nhs.uk/ stories.asp?id=49 (Last accessed: December 3 2013.) Telling Stories: Understanding Real Life Genetics (2010) Cerebellar Ataxia: My Daughter’s Story. www.
tellingstories.nhs.uk/stories. asp?id=55 (Last accessed: December 3 2013.) Telling Stories: Understanding Real Life Genetics (2011a) ‘That Gene Link Being Identified is Probably Bigger Than Any Cancer.’ www.tellingstories.nhs.uk/stories. asp?id=100 (Last accessed: December 3 2013.) Telling Stories: Understanding Real Life Genetics (2011b) Huntington Disease in the Family. www.tellingstories.nhs.uk/stories. asp?id=69 (Last accessed: December 3 2013.) Tonkin E, Skirton H (2013) The role of genetic/genomic factors in health, illness and care provision. Nursing Standard. 28, 12, 39-46. Watts S, Bueser T, Robert M (2009) A multidisciplinary service for inherited cardiac disease in a regional clinical genetics service. British Journal of Cardiac Nursing. 4, 7, 321-325.
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If you would like to contribute to the Art & science section, email [email protected]
The synthesis of art and science is lived by the nurse in the nursing act
Josephine G Paterson
Providing nursing care and support to individuals and families with genetic/genomic healthcare needs Kirk M, Marshallsay M (2013) Providing nursing care and support to individuals and families with genetic/genomic healthcare needs. Nursing Standard. 28, 16-18, 39-46. Date of submission: December 19 2012; date of acceptance: May 31 2013.
Abstract This is the final article in a series looking at how nurses can develop confidence and competence in genetics and genomics health care. This article focuses on the role of the nurse in providing ongoing care and support for families affected by genetics and/or genomics issues.
Authors Maggie Kirk Professor of genetics education, Genomics Policy Unit, Faculty of Life Sciences and Education, University of South Wales, Pontypridd. Martine Marshallsay Assistant head of nursing, Learning Disabilities Directorate, Abertawe BroMorgannwg University Health Board, Swansea. Correspondence to: [email protected]
Keywords Genetics, long-term conditions, nursing competence, ongoing care
Review All articles are subject to external double-blind peer review and checked for plagiarism using automated software.
Online Guidelines on writing for publication are available at www.nursing-standard.co.uk. For related articles visit the archive and search using the keywords above.
THE JOURNEY THROUGH specialist genetics services, involving making decisions about genetic testing, receiving a diagnosis and coming to terms with it, is significant to patients and family members (Barr and Millar 2003). Nurses have a valuable role to play in signposting people appropriately to genetics services and providing additional support during decision making. However, the genetic healthcare needs of individuals and families do not stop with a diagnosis, nor does nursing care cease with an assessment that has taken account of ‘relevant... genetic and environmental factors’ as required by the Nursing and Midwifery Council (2010). Genetic conditions are lifelong and, therefore, people affected by such conditions and their families need ongoing care and support. This is a fundamental component of nursing and is reflected in competency 8 of the revised framework for genetics/genomics for nurses (Kirk et al 2013a) (Box 1). Examples from stories published on the Telling Stories: Understanding Real Life Genetics website (www.tellingstories.nhs.uk) are used to illustrate the issues raised in this article. These stories have been collected using an ethical framework, and people’s names have been changed to protect their privacy (Kirk et al 2013b).
Importance of this competency In 2010, a consensus meeting was convened of nurses in practice, policy and education, together with patient representatives and genetics
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Art & science competency standards: 8 nurse experts, to review the existing genetics education framework for nurses (Kirk et al 2003). Participants agreed that provision of ongoing care for people affected by genetics and genomics was not adequately reflected in the original framework. This was felt to be an important element of the nurse’s role, sufficient to merit an additional (eighth) competency in the revised framework (Kirk et al 2013a). Most genetic diseases are rare, but it is estimated that around 3.5 million people in the UK at some time will be affected by a rare disease, many of which have a genetic basis (Rare Disease UK 2011). Some conditions are more common, for example familial hypercholesterolaemia affects one in 500 people (Brice et al 2013), and common
BOX 1 Competency 8 Provide ongoing nursing care and support to patients, carers and families with genetic/genomic healthcare needs: Being responsive to changing needs through the life stages and during periods of uncertainty. Demonstrating awareness about how an inherited condition, and its implications for family members, might affect family dynamics. Working in partnership with family members and other agencies in the management of conditions. Recognising the potential expertise of individuals, family members and carers with genetic/genomic healthcare needs that develops over time and with experience. (Kirk et al 2013a)
diseases such as diabetes and cancer also have a genetic component. The increasing availability and scope of genetic testing means that more people are being identified as having or being at risk of developing, or being carriers for, genetic conditions (Skirton and Jackson 2013). At the same time, nurses lack awareness about genetics and confidence in incorporating it into practice (Godino and Skirton 2012). While identifying people who might benefit from referral to genetics services and information is an essential starting point, the growing number of people who access such services highlights the need for follow-on support in mainstream services. Genetics can affect individuals and families at any of the life stages (Table 1). The needs of individuals and families for nursing support is ongoing. Although genetic counsellors or specialist genetics nurses will normally provide follow-up counselling following diagnosis of a genetic condition, this is a discrete episode of care and other nurses should be able to support explanations given as well as patients and families as they learn to cope with the outcomes of investigations. Patients’ and families’ needs may also change over time and nurses should to be able to recognise, reassess and respond to changing circumstances (Box 2). While nurses are used to caring for people with lifelong conditions, they must also be able to appreciate the complexity surrounding living with a genetic condition, from understanding the effect and implications for family members (Box 3), to co-ordinating care across multiple agencies.
TABLE 1 Potential effect of genetics at different life stages Life stage
Effect
Preconception
Testing for carrier status in prospective parents.
Antenatal
Antenatal screening and testing for inherited conditions. Testing for carrier status. Diagnosis of affected fetus. Management of women with genetic conditions, including learning disability.
Neonatal
Neonatal screening and testing for inherited conditions. Diagnosis of a genetic condition (although the infant may be asymptomatic at diagnosis).
Child
Diagnosis of childhood-onset conditions.
Adolescent
Testing for early-onset adult conditions. Transition to adult services.
Adult
Testing and diagnosis of adult-onset conditions. Testing and diagnosis of childhood-onset conditions where testing had been previously unavailable.
Older adult
Children or grandchildren diagnosed with an inherited condition. Death of a young family member as a result of an inherited condition.
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Benefits to patients and patient and/or family care Canam (1993) outlined the challenges facing families adjusting to the diagnosis of a child with a lifelong condition in having to: Accept the child’s condition. Manage the condition on a day-to-day basis. Meet the normal developmental needs of the child. Meet the developmental needs of other family members. Cope with continuous stress and periodic crises. Assist family members to manage their feelings. Educate others about the child’s condition. Establish a support system. A structured review of 34 articles about parents’ experiences of managing children with long-term conditions found that developing skills in managing such conditions was paramount (Smith et al 2013). However, the authors also found that there were difficulties in securing appropriate support in terms of information and resources. Nurses can make a significant difference to patients and families through provision of ongoing care, whether as part of a single episode of care or through longer term involvement, by being aware of the challenges these individuals face. Some examples of the nurse’s role in supporting people affected by genetic conditions are highlighted in the Telling Stories series.
BOX 2 Rob’s story Rob has Von Hippel-Lindau disease. This condition is characterised by predisposition to tumours, particularly in the cerebellum, spinal cord, retina and renal cells. It is an autosomal dominant condition, with a 50% chance that children will inherit it. Rob’s comment highlights the need for extra support: ‘A genetic condition is with you every second of every day and I have to deal with it all the time – it never fades with time. It’s a constant “threat”... although I can get advice on the medical symptoms, I feel a bit lost when it comes to non-medical issues relating to someone with a genetic condition. As the genetics team are busy people, I do feel like I am intruding upon them if I want some help or advice.’
The nurse caring for Charlotte’s daughter, who died one year after being diagnosed at 18 months with cerebella ataxia, a progressive neurological condition, was not afraid to show her compassion for the family’s situation (Telling Stories: Understanding Real Life Genetics 2010): ‘The rage gave way over the weeks of tests to resignation and the beginning of a long goodbye... The nurse I liked most was the one who cried when we talked about how short a time she had left. I loved her for that.’ Yvonne’s granddaughter has SWAN (Syndrome Without A Name), a complex congenital condition of unknown cause. Her health visitor demonstrated commitment and competence in supporting the family (Telling Stories: Understanding Real Life Genetics 2006c):
BOX 3 Paul’s story Paul has an inherited bowel condition, familial adenomatous polyposis, where multiple polyps occur in the bowel and can lead to bowel cancer. As an autosomal dominant condition, Paul’s children have a 50% risk of inheriting the condition. In this extract from his story, Paul shows how he has had to adjust to one thing after another. His daughter was found also to have inherited familial adenomatous polyposis, although one of his sons tested negative: ‘I had had my bowel out and the cancer by that time was well under control and I thought: “Oh that’s it finished with me. I don’t need to worry.” I had a test for freckles behind the eye, which is an indication and they couldn’t find any and I thought “Great”. We came back and we celebrated and although they said it wasn’t a definite clear… It was a week later when I had the phone call to say I had got the gene – which was a bit of a blow – because then we realised with three children… It gets a bit serious, you know. And you’d got the elation of the cancer being OK – and then suddenly they say: “Well, you know, your family could be at risk”.’
Rob needs care from nurses who understand the complexity and unpredictability of a multi-system, long-term condition, who can help co-ordinate multi-agency care, and who can work with him to find information and support relevant to his condition.
Paul has encountered many nurses along his journey – in primary care, on surgical wards, in oncology and outpatient departments, for example. Although each encounter may be for a discrete episode of care, the nurses involved have to appreciate the broader context of the challenges of living with a long-term condition. Paul needs support to understand the implications for his children and his wife of being at risk of familial adenomatous polyposis, and help in dealing with his feelings around this.
(Telling Stories: Understanding Real Life Genetics 2006a)
(Telling Stories: Understanding Real Life Genetics 2006b)
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Art & science competency standards: 8 ‘Our Health Visitor was a tower of strength at this time and she provided a great deal of support for us with referrals and helping with a multitude of forms which had to be filled in.’ Rachel’s cystic fibrosis clinical nurse specialist exemplified the caring, competent nurse, delivering quality, person-centred care (Telling Stories: Understanding Real Life Genetics 2006d): ‘Care from our CF [cystic fibrosis] community nurse. Impeccable. At the end of the phone whenever we need her. Very well informed... Explains lots of stuff for us... Helped set up my daughter’s care plan at pre-school... Couldn’t manage without her.’ One factor that is important to individuals and families in their ongoing care is involvement with healthcare professionals who treat them as a whole person, listening to them and respecting their views. Elizabeth has a family history of breast and ovarian cancer, confirmed following identification of the BRCA2 gene in her aunt. Elizabeth herself was diagnosed with breast cancer, but decided not to undergo genetic testing. She opted for a bilateral risk-reducing mastectomy and oophorectomy, but before making that decision, she did not feel she was always treated as a whole person (Telling Stories: Understanding Real Life Genetics 2011a): ‘It just felt as if they didn’t see me, they didn’t see the person that was in here and not only did they not see, they didn’t always hear.’ This quote highlights the importance of psychosocial support leading up to and following decision making around risk-reducing mastectomy and oophorectomy (Howard et al 2010). Elizabeth now has to go to her GP surgery for annual check-ups and she has developed osteoporosis as a result of the early oophorectomy. It will be important that any primary care nurses involved in monitoring Elizabeth’s condition are aware of her complex background and the effect it has had on her and her family. Rare Disease UK (2011) found that care for patients with rare diseases is often not provided holistically and does not always consider their non-medical needs. Furthermore, 71% of respondents to a survey on patients’ and families’ experiences of rare diseases did not feel they received sufficient psychological support in relation to their condition (Limb et al 2010). Work by
McAllister et al (2007), exploring the emotional effects of genetic conditions, underlines the importance of receiving such support. Emotional effects identified included anxiety, worry, guilt, anger, uncertainty, sadness, grief and depression. Nurses need to be able to deliver holistic care that incorporates knowledge and skills about genetics and genomics and the spectrum of its effect on health, wellbeing and lifestyle. There are examples across a number of specialties where experienced nurses are achieving this, including cancer nursing (Calzone et al 2010, Santos et al 2013), diabetes nursing (Shepherd et al 2003) and cardiac nursing (Watts et al 2009). Additional genetics education is central to this extended role. Burke et al (2012) outlined an education strategy tailored for experienced haemophilia nurses to address the needs of practising nurses hoping to incorporate genetics into their everyday role. Following an education session on genetics tailored to their needs, the haemophilia nurses who attended felt significantly more confident in incorporating genetics into their practice.
The nurse’s role Table 2 identifies significant episodes in the lives of people affected by genetic conditions where the need for competent nursing care may be greatest, be it in the primary or secondary care setting. The nursing role is outlined for each situation, but it is important to note that recognising transitions in people’s lives is an integral part of this, anticipating when changes in circumstances (medical, social, emotional and psychological) may trigger changes in healthcare needs. As indicated in Table 2, some aspects of the role will require experience on the part of the nurse, for example in becoming familiar with the inherited conditions most likely to be encountered in practice, or with local contacts and support groups. For other elements, the nurse is likely to have to undergo additional genetics training, for example to promote confidence in taking, drawing and interpreting a family history, and recognising the mode of inheritance to triage patients, or to give advice about tests. Oliver and Skirton (2010) outlined the role of specialist cardiac genetics nurses, emphasising their important part in providing psychosocial support and in educating other healthcare professionals about inherited cardiac conditions. The primary care nurse or specialist nurse, who may work in primary, secondary or tertiary care, may be more likely to take the overarching co-ordinating role, liaising with other agencies,
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TABLE 2 Role of the nurse in providing care for people affected by genetic conditions Episode
Notes
Nursing role
Onset of symptoms raises concern
May be identified by the patient, family member or healthcare professional. May occur at any life stage.
Identifying individuals who might benefit from genetics services or information. Ensuring patient’s and/or family members’ concerns are heard and acted on. Recognising and learning from the expertise of individuals and families. Knowing how and when to refer to genetics services.
Diagnosis in a close relative
Family members may be unaware of the implications for themselves. Family members may not wish to know about their own risk. Family members may not communicate with each other.
May be involved in breaking bad news and communicating sensitively with the family.
Deciding about whether to undergo testing
Pressures may arise because of a limited timescale, for example during pregnancy, or from other family members.
Acting as an advocate in upholding the individual’s right to informed decision making.
Awaiting a test result
Timescale will vary according to the test and its complexity.
Providing empathic support.
Diagnosis in a patient
Diagnosis may be unexpected. No diagnosis may be made. Outcome may be uncertain. Diagnosis may be in addition to diagnosis in other family members, including children or siblings.
*Providing additional support and explanations to reinforce interventions from genetics services. May be involved in breaking bad news. Appreciating the effect of a diagnosis on all family members and understanding different family members may respond in different ways. Being aware of the psychological effects of a diagnosis, including feelings of anger, guilt and blame and the effect this can have on family dynamics.
Adjusting to day-to-day management of the condition
There may be one or more children in a family affected by the condition. Developmental and emotional needs of other siblings also need to be met.
*Co-ordinating multi-agency care. Working in partnership with the individual and/or family to promote self-management. †Providing and communicating accurate and balanced information about the condition and signposting to support groups, using communication and counselling skills to do so at the individual’s own pace. Delivering community-based care. Listening to the family and acting as advocate in mobilising appropriate care and resources. Mobilising practical support, with breaks or respite care for patients, siblings and families.
Periodic crises in the course of the condition
Trajectory of the condition may be uncertain. Hospitalisation may be required.
*Being familiar with the typical course of conditions of patients on the nurse’s caseload or in their care setting. *Recognising signs of impending crisis, or predisposition to crisis, and acting promptly to ensure timely referral where necessary. Delivering acute nursing care, seeking information about the patient’s underlying condition as necessary.
Illness of main carer
Carers becoming ill can precipitate a crisis because the patients’ needs remain.
*Co-ordinating multi-agency care in supporting both carers and patients. Delivering respite care.
Transition across services
Transition across schools. Transition to adult services. Transition to maternity services. Transition to end of life care.
Death of affected family member
Death is usually anticipated, but for some inherited cardiac conditions, sudden death may be the first indication of genetic disease.
Assessing and responding to changing needs. *Co-ordinating and promoting effective multiprofessional care and communication for: Children, especially for those with conditions where previously transition to adult services was uncommon. Pregnant women with rare conditions moving into maternity services. Individuals of all ages moving to end of life care. Providing bereavement support for family members, including children and grandparents. Acting sensitively in raising the possibility of the need for referral to genetics services for other family members.
*This role could be reasonably expected of an experienced nurse. †This role might form part of an extended role, with the nurse having undergone additional training in genetics.
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Art & science competency standards: 8 including genetics services (Box 4). However, all those who encounter the patient and family, whether for a discrete episode of care or over a longer timescale, should have the basic knowledge and skills as outlined in this series, to deliver competent care, being non-judgemental and supporting the patient and family as they adjust to new circumstances.
Achieving this competency Genetic conditions can be complex, can affect more than one family member and can affect families at any life stage. Their trajectory can often be uncertain and this is compounded when the diagnosis itself is uncertain. Families affected by genetic conditions will interact with nurses at multiple points over time, with community-based nurses, in particular, often building a relationship with the family over an extended period of time. According to Kirk et al (2011), to provide competent ongoing care and support, nurses need to be able to: Demonstrate knowledge and understanding of genetics and genomics appropriate to the life stages when carrying out a nursing assessment and providing care. Incorporate a knowledge of inheritance risk and the effect on family dynamics when anticipating potential issues and planning care.
BOX 4 Co-ordinating care: a case study Amy and her partner Stephen, who have been together for four years, have decided they want to have a baby. They both have learning disabilities and Amy has Down’s syndrome. Samira is a community learning disability nurse and she accompanies Amy and Stephen on a visit to the regional genetics centre to talk to a genetic counsellor about their reproductive options. Samira has already spoken to the genetic counsellor to ensure that any information available to the couple will be in an easy-to-read format and she liaises with the speech and language therapist in the learning disability community support team. After the appointment, Samira can use the information to go over what was said at the appointment to make sure Amy and Stephen have understood what their choices are. As a community learning disability nurse, Samira is responsible for providing ongoing care and support for Amy and Stephen. She recognises that the couple’s needs have changed in deciding they want to have a child and has worked in partnership with genetics services, other healthcare professionals and the couple, to manage this next period in their lives. She is also acting as their advocate, to uphold their rights to make this decision, and to be appropriately informed in doing so as in competency 3 (Goldsmith and Skirton).
Recognise their own role and contribute effectively in a team to the co-ordination of care, taking a leading role when appropriate. Actively seek advice from the individual or family members to address care needs. Work in partnership with families. Detailed knowledge of genetics is not necessary, but the nurse needs enough knowledge and understanding of the role of genes and chromosomes in health and disease to be able to reinforce information given to individuals and families by genetic specialists, and to know where to go to obtain further information. Likewise, it is important for nurses to understand how genetic conditions are inherited and the chances that other family members may be affected (Tonkin and Skirton 2013). However, the most important element of ‘scientific’ knowledge is to be able to translate it into the effect it has on people. For example, Rhiannon, whose first daughter died from spinal muscular atrophy explained (Telling Stories: Understanding Real Life Genetics 2009): ‘If you could teach people that a genetic disorder can be catastrophic and people somehow need to process the information they are giving them so they may need to write things down, repeat things or explain even the most basic things.’ It is also important to be aware that different family members will respond differently to particular events, such as decisions around testing and their reactions to a diagnosis. They may also make different choices, often related to personal experiences. As noted previously, many people indicate that, outside of the genetics specialty, they do not necessarily expect healthcare professionals to be experts (Burke et al 2007). They do appreciate honesty, being respected and being given the opportunity to work in partnership with healthcare professionals involved in their care (Box 5). The development of a therapeutic relationship must be founded on trust and part of the nursing role is to nurture this, being truthful about limitations to knowledge and being open to learning alongside the family. Yvonne gave the following advice to doctors and nurses when dealing with the unknown, such as her granddaughter’s rare condition (Telling Stories: Understanding Real Life Genetics 2006c): ‘Please don’t be afraid to ask the parents and to talk about the child’s needs... We deal with the child each day and we are aware of the changes
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which you don’t see. Please listen to us. Don’t be afraid to say that you don’t know.’ Yvonne’s words reinforce two of the central strands to competence in providing ongoing care: working with families as partners and recognising the expertise of family members.
Further information Genetic Alliance UK (www.geneticalliance.org.uk) and Contact a Family (www.cafamily.org.uk), as well as disease or syndrome-specific support organisations, offer valuable information and support for patients and healthcare professionals. Care needs to be taken because some websites may give subjective information and it is important that nurses critically appraise sites before signposting these to patients and families (Fairgrieve and McDonnell 2013). National organisations may also provide information on care, such as the National Institute for Health and Care Excellence (2012) guidelines for the management of acute painful sickle cell episodes. Perhaps the best source of information for nurses who wish to develop competence in providing ongoing care is from patients and families themselves. There are now several websites where people’s stories about genetics may be viewed. Cincinnati
BOX 5 Nancy’s story Nancy’s son Dean had schizophrenia. His father was diagnosed with Huntington’s disease only six weeks before he died and Dean was informed of this diagnosis by letter. Dean’s brother subsequently tested positive for the condition, but Dean tested negative. Dean could not cope with the effect of this news and committed suicide. Nancy summarises some basic steps where healthcare professionals can make a difference: ‘Be honest if you do not know something – admit it but try to find out more if you can. Do not underestimate the profound effect on mental health this kind of news can have. Sometimes people just want to talk even if they know you can do very little. Try to keep appointments if possible. Again, you may be the only person that your patient can really talk to.’ Nancy’s story illustrates that family life is complex and a genetic diagnosis adds to that complexity. The community psychiatric nurse involved in Dean’s ongoing care would have had a significant role in supporting Dean following receipt of the letter. He or she would have needed to understand the implications of Dean’s father’s diagnosis for Dean and his brother, and the potential effect of this on Dean, applying that knowledge to inform care planning. (Telling Stories: Understanding Real Life Genetics 2011b)
References Barr O, Millar R (2003) Parents of children with intellectual disabilities: their expectations and experience of genetic counselling. Journal of Applied Research in Intellectual Disabilities. 16, 3, 189-204. Brice P, Burton H, Edwards CW, Humphries SE, Aitman TJ (2013) Familial hypercholesterolaemia: a pressing issue for European health care. Atherosclerosis. 231, 2, 223-226. Burke S, Barker C, Marshall D (2012) Developing education tailored to clinical roles: genetics education for haemophilia nurses. Nurse Education Today. 32, 1, 52-56. Burke S, Bennett C, Bedward J, Farndon P (2007) The Experiences and Preferences of People Receiving Genetic Information from Healthcare Professionals. NHS National Genetics Education and Development Centre, Birmingham.
Calzone KA, Cashion A, Feetham S et al (2010) Nurses transforming health care using genetics and genomics. Nursing Outlook. 58, 1, 26-35. Canam C (1993) Common adaptive tasks facing parents of children with chronic conditions. Journal of Advanced Nursing. 18, 1, 46-53. Fairgrieve S, McDonnell S (2013) Genetics and genomics: obtaining and communicating information. Nursing Standard. 28, 15, 37-42. Godino L, Skirton H (2012) A systematic review of nurses’ knowledge of genetics. Journal of Nursing Education and Practice. 2, 3, 173-184. Goldsmith L, Skirton H (2013) Genetics: advocating for the rights of all individuals to informed decision making and voluntary action. Nursing Standard. 28, 11, 37-41.
Howard AF, Bottorff JL, Balneaves LG, Kim-Sing C (2010) Women’s constructions of the ‘right time’ to consider decisions about risk-reducing mastectomy and risk-reducing oophorectomy. BMC Women’s Health. 10, 24. Kirk M, McDonald K, Longley M, Anstey S (2003) Fit for Practice in the Genetics Era: A Competence Based Education Framework for Nurses, Midwives and Health Visitors. University of Glamorgan, Pontypridd. Kirk M, Tonkin E, Skirton H (2011) Fit for Practice in the Genetics/Genomics Era: A Revised Competence Based Framework with Learning Outcomes and Practice Indicators. A Guide for Nurse Education and Training. NHS National Genetics Education and Development Centre, Birmingham. Kirk M, Tonkin E, Skirton H (2013a) An iterative
consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK. Journal of Advanced Nursing. Doi: 10.1111/ jan.12207. Kirk M, Tonkin E, Skirton H, McDonald K, Cope B, Morgan R (2013b) Storytellers as partners in developing a genetics education resource for health professionals. Nurse Education Today. 33, 5, 518-524. Limb L, Nutt S, Sen A (2010) Experiences of Rare Diseases: An Insight from Patients and Families. Rare Disease UK, London. McAllister M, Davies L, Payne K, Nicholls S, Donnai D, MacLeod R (2007) The emotional effects of genetic diseases: implications for clinical genetics. American Journal of Medical Genetics. Part A. 143A, 22, 2651-2661.
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Art & science competency standards: 8 Children’s Hospital Medical Center (tinyurl. com/RelevantGenetics) provides five freely accessible stories, including one on bipolar disorder and another on Alzheimer’s disease. The Cancer Genetics Storybank (www. cancergeneticsstorybank.co.uk) is an online collection of digital stories from patients about inherited cancer. The Telling Stories website (www.tellingstories.nhs.uk) has 100 stories from people whose lives are affected by genetic conditions in some way. Each story provides some insight into what it is like to have, to live with or to care for someone with a genetic condition. However, the best source of information is that which is relayed directly to the nurse. During the course of his or her career, a nurse will encounter many people with genetic conditions, or conditions in which genetics plays a significant part. Nurses should talk to these individuals about their experiences. As Smith et al (2013) noted, carers develop considerable expertise in learning to manage their ‘family
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care. Journal of Nursing Scholarship. 45, 1, 43-51. Shepherd M, Stride A, Ellard S, Hattersley A (2003) Integrating genetics into diabetes care: a new role for DSNs. Journal of Diabetes Nursing. 7, 8, 289-292. Skirton H, Jackson L (2013) Utility and limitations of genetic/genomic information and testing. Nursing Standard. 28, 13, 45-49. Smith J, Cheater F, Bekker H (2013) Parents’ experiences of living with a child with a long-term condition: a rapid structured review of the literature. Health Expectations. Doi: 10.1111/hex.12040. Telling Stories: Understanding Real Life Genetics (2006a) Rob’s Story: Living with Von Hippel Lindau. www.tellingstories.nhs.uk/stories. asp?id=10 (Last accessed: December 3 2013.) Telling Stories: Understanding Real Life Genetics (2006b)
condition’, but this expertise is seldom valued by healthcare professionals.
Conclusion While regional genetics services play a vital role in specialist care, interactions tend to be linked with discrete episodes of care, particularly around genetic testing and diagnosis. Nursing care can provide a trusted and informed constant in the lives of people and families affected by genetic conditions. To provide high-quality ongoing care and support, nurses need to understand the challenges such people face throughout their lives NS Acknowledgements At the conclusion of this series of articles on genetics and genomics, Professor Maggie Kirk wishes once again to thank Professor Heather Skirton and Dr Emma Tonkin for their help in planning the series.
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