Art & science
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
Obtaining and communicating information about genetics and genomics Fairgrieve S, McDonnell S (2013) Obtaining and communicating information about genetics and genomics. Nursing Standard. 28, 15, 37-41. Date of submission: December 19 2012; date of acceptance: June 14 2013.
Abstract This is the eighth article in a series looking at how nurses can develop competence in genetics and genomics health care. The article explores the many ways in which nurses can acquire up to date and accurate genetic and genomic information, with the intention of improving their knowledge base. It enables nurses to discover the best ways of giving specific and complex information to patients and colleagues effectively and using straightforward language.
Authors Susan Fairgrieve Principal genetic counsellor, Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne. Sharon McDonnell Principal genetic counsellor, Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne. Correspondence to: [email protected]
Keywords Communication, critical appraisal, genetics information, resources
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.
GENETIC AND GENOMIC SCIENCE is developing rapidly and plays an increasing role in medical care. The development of genetics into mainstream medicine has provided the motivation for competency 7 of the revised framework for genetics/genomics for nurse education (Kirk et al 2013) (Box 1). Scenarios and stories from the Telling Stories: Understanding Real Life Genetics website (www.tellingstories.nhs.uk) will be used to illustrate the nurse’s role in providing genetic and genomic information, and the difference this makes to patient care. Ways in which the nurse can acquire knowledge and keep abreast of current information will be discussed with reference to where further information can be accessed.
Importance of this competency Competency 7 is important to enable nurses to keep up to date with advances in genetic and genomic science relevant to their area of practice. To be a competent practitioner, it is essential for
BOX 1 Competency 7 Obtain and communicate credible, current information about genetics/genomics, for self, patients, families and colleagues: Using information technologies and other information sources effectively to do so. Applying critical appraisal skills to assess the quality of information accessed. (Kirk et al 2013)
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Art & science competency standards: 7 nurses to recognise the importance of having basic genetic knowledge and to update this knowledge regularly from credible and current resources. The Nursing and Midwifery Council’s (2008) code of practice requires nurses to ‘recognise and work within the limits of your competence’ and ‘keep your knowledge and skills up to date throughout your working life’. It is the healthcare professional’s responsibility to provide clear information and not false reassurance (Box 2). One parent’s story illustrates how information given by a healthcare professional can be misleading (Telling Stories: Understanding Real Life Genetics 2006a): ‘When the results came in, our GP told us not to worry, that the disease wasn’t very serious and recommended that we don’t go and do a search for alkaptonuria on the internet because it would make us worried.’ Part of the motivation for competency 7 is the increase in knowledge about more than 15,000 recognised genetic disorders and the amount of information available on the internet. Nurses cannot be expected to know all this information. They do, however, need to be effective managers of information, including identifying and accessing relevant resources, evaluating content, synthesising this for their own benefit and communicating it to patients, relatives and colleagues. There may also be a role in teaching and/or communicating information to junior colleagues. The documents Genetics and Mainstream Medicine (Burton 2011) and Building on Our Inheritance (Department of Health (DH) 2012)
BOX 2 Case study Judith is a staff nurse based on a neurology ward. Fred, aged 58, has been admitted for investigation of recent falls and unsteady gait. During his admission, he tells Judith that his mother had similar problems, but at a much younger age. On further questioning about his mother, Fred explains that she had Huntington’s disease, but he knows this is not something he can have since he is too old and is male and only females are affected. Judith has heard of Huntington’s disease, but is uncertain about the facts of the disease. She researches the disease on the internet and contacts the local genetics centre for information. She is told about the inheritance pattern, available testing and the risks to other family members. After discussing her findings with the registrar on the neurology ward, Judith explains to Fred and his wife the facts about Huntington’s disease and that he is still at risk. She discusses the implications for their children with regard to testing and also the help and support available if he does have the disease. Now that they have accurate information about the condition, the couple make an informed choice and Fred is tested for Huntington’s disease and found to carry the gene. He is then referred to the specialist Huntington’s disease team where his condition is managed.
highlighted how genetics and genomics is being integrated into everyday care. The following two examples illustrate how genetic and genomic science affects mainstream medicine: More patients are being identified from population screening programmes such as the NHS Newborn Blood Spot Screening Programme (newbornbloodspot.screening.nhs. uk). When a genetic disorder is identified in a baby, the information enables the baby’s parents to make decisions about future pregnancies and inform other family members about their risk of being carriers. Further information is available on the UK National Screening Committee’s website (www.screening.nhs.uk). Genetic testing is helping with diagnosis and assessment of appropriate individualised treatment options. In cases of leukaemia, cytogenetic investigation of bone marrow cells for chromosomal change helps to provide a definitive diagnosis and prognostic indicator leading to appropriate treatment (Harrison 2000). This technique has progressed and is now used for other types of cancer such as some sarcomas and lymphomas (Sandberg and Meloni-Ehrig 2010).
Benefits to patients and patient and/or family care In addition to the benefits to the patient of a definitive diagnosis and individualised treatment, genetic and genomic science provides information that affects the individual and his or her family. One particular story illustrates how a health visitor becoming well informed about a condition was associated strongly with a mother’s positive experience. It is important to note that Maria, whose son was diagnosed with the genetic condition achondroplasia, did not mind that the health visitor did not initially know anything about the condition (Telling Stories: Understanding Real Life Genetics 2006b): ‘It was just very fortunate for us that we had a brilliant health visitor who gave us all the support she could offer. She helped us find out all that she could, even though she knew as little as we did. She spent much of her own time doing research on the internet about the condition and where to get some special growth charts for my son to record his progress. There were numerous amounts of calls made by her to our consultant in an effort to get appointments or just to chase things up. She also, with the help of our GP, made sure that we got referrals to all the right people and got a different consultant. We were just made to feel very looked after, in spite of
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the fact that the rest of the system seemed to be failing us. It felt like somebody was on our side and looking after our best interests.’ Secondary to the diagnosis of a genetic condition is finding out who else in the family is at risk of being affected by or a carrier of the condition. Individuals may experience feelings of blame and/or guilt at passing a condition on to their children, as in myotonic dystrophy, or passing on a genetic mutation which increases their chance of developing a cancer (Murakami et al 2001, Evans 2006). Communication is a two-way process – listening to patients will provide information about their condition, social circumstances and the understanding they have about their condition. Patients can be the experts with regard to the physical symptoms of their condition, especially if their condition is rare. When attending the hospital, Alan’s wife Eleanor, who has Charcot-Marie-Tooth, always takes information leaflets with her where they are gratefully received by staff who have little knowledge of the condition. Staff are subsequently better informed to help the next patient who has Charcot-Marie-Tooth have a more positive experience. In this story, the point is also made that not all problems experienced by the patient are as a result of the condition (Telling Stories: Understanding Real Life Genetics 2009): ‘I think the one thing I would always say to any health professional in terms of anybody with a neurological condition like Eleanor has got is – don’t hide behind that condition. They don’t say that everything that you’ve got wrong with you must be your CMT [Charcot-Marie-Tooth].’ However, while Eleanor was happy to give information to healthcare staff, patients and families affected by genetic conditions may find having to explain the condition every time they attend hospital frustrating. The Online Mendelian Inheritance in Man (www.omim.org) is a database of single-gene disorders containing detailed technical information on clinical features and mutations.
The nurse’s role Nobody’s Fault – Achondroplasia (Telling Stories: Understanding Real Life Genetics 2006b) illustrates how part of the nurse’s role is being with the patient and/or family as they work their way through information. Obtaining credible, current information will enable the nurse to signpost patients and carers to credible resources for information and support such as Contact a Family
(www.cafamily.org.uk) and Genetic Alliance UK (www.geneticalliance.org.uk). For some parents who may have known there was something wrong with their child and not having a diagnosis for several years, the provision of a diagnosis can be a relief. However, this initial relief is sometimes followed by the question: ‘where do we go from here?’. If the nurse gains further information about the genetic condition, then he or she will be in a better position to signpost the family to appropriate resources and refer them to other relevant healthcare professionals, including the genetics service. The nurse’s role includes informing and/or teaching and explaining some of the core concepts of genetics to patients and colleagues to reinforce what they have already been told and dispel some common myths. Often, people have preconceived ideas regarding how conditions run in families, such as ‘it only affects the first born’ or ‘I don’t look like my mother’s side of the family’. It is important to listen to their ideas, obtain as accurate a family history as possible and have an understanding of the different patterns of inheritance. This will help family members understand the risk of developing a genetic condition (Emslie et al 2003, Klitzman 2010). When communicating genetic information, the nurse should be non-judgemental and sensitive to the individual’s beliefs. This is a crucial aspect of genetic counselling that is explored further by Skirton and Patch (2002) and Evans (2006). Explaining genetics can be a daunting task, but keeping explanations simple and using layman’s terms and analogies can help, such as: ‘Our bodies are made of trillions of cells, within the cells there is a nucleus or information centre. Within the nucleus there are thread-like structures called chromosomes. Chromosomes are packaging for genes. Genes are like a recipe which makes a protein necessary for the cell to function. If the recipe for a sponge cake has an alteration to the recipe such as no eggs then the result will not be a sponge cake. Similarly, if there is an alteration or mutation in the gene then the cell will not produce the protein necessary for the cell to function properly.’ While people might sometimes appear to understand genetic concepts that are explained to them, further questioning to check their understanding might reveal that they have not fully understood the explanation. Diagrams can be particularly effective when trying to explain patterns of inheritance. Such diagrams and explanations of patterns of inheritance can be downloaded from the Genetic Alliance UK and Genetics Home Reference (www.ghr.nlm.nih.gov) websites. There is also an education resource,
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Art & science competency standards: 7 GeneEd (geneed.nlm.nih.gov/index.php) for personal use, or to use when teaching or talking to colleagues. Tonkin et al (2011) explained how the use of resources can help in the learning process.
Achieving this competency Genetic knowledge can be acquired through formal education, but because of the nature of this rapidly developing science it is important for nurses to update their understanding of genetics regularly. Formal education may be gained through academic courses, study days and conferences. While this provides theoretical knowledge, nurses then need to incorporate this into the holistic care of the individual, taking into consideration the genetic issues that may be raised for the person’s children and wider family. Skirton and Patch (2002) provide further information about genetic concepts and use case examples to demonstrate the effect of these concepts on patients and their families.
Textbooks, journals and web-based resources
Textbooks and journals are helpful sources of information, however it is important to check the date of publication because they may contain out-of-date information given that genetics is a rapidly evolving field of medicine. The details of some useful resources are given in Box 3. Obtaining genetic information is assisted by access to the internet, which can provide up-to-date information, however there is no governance over
BOX 3 Useful genetics resources for nurses and midwives Haydon J (2007) Genetics in Practice: A Clinical Approach for Health Care Practitioners. John Wiley and Sons, Chichester. Case studies are used to explain models of inheritance and explore the possibilities for families following a genetic diagnosis. Skirton H, Patch C (2002) Genetics for Healthcare Professionals: A Lifestage Approach. BIOS Scientific Publishers, Oxford. Genetic concepts are explained and case examples are used to demonstrate the effect of genetics on patients and their families. Bradley-Smith G, Hope S, Firth HV, Hurst JA (2010) Oxford Handbook of Genetics. Understanding Genetics – A Guide for the Non-specialist. Oxford University Press, Oxford. This is a useful resource for the science of genetics, including genetic conditions and the effect these may have on the family. Read A, Donnai D (2007) New Clinical Genetics. Scion Publishing, Bloxham. Realistic case studies are used to illustrate genetic testing and show how genetics works in the clinical setting. Jackson JF (1996) Genetics and You. Humana Press Inc, Totowa NJ. Genetic information is provided for medical and non-medical people. Balkwill F, Rolf M (1993) DNA is Here to Stay. Lerner Publishing Group, Minneapolis MN. This is a useful resource for explaining genetics to children.
the content of websites. It is an individual’s own preference as to which approach is best for him or her, so it is worth doing some personal research and bookmarking preferred sites. Whether accessing information via textbooks, journals or the internet, it is important to think about how reliable the information is and to critically appraise it. Help with developing critical appraisal skills can be obtained via university libraries, for example Cardiff University (2103) has a useful guide entitled Critical Appraisal of Health Care Literature. The National Human Genome Research Institute website (www.genome.gov/11008303) provides guidance on assessing health information online. Trust It or Trash It? (www.trustortrash.org) provides an assessment tool to evaluate health information. Points to bear in mind when appraising information include how well known the author is, whether there is evidence of the sources of information and whether the information is based on research or an individual’s own experience. In journal articles, points to consider are the integrity of the journal and whether the articles are peer reviewed. More importantly, it is not wise to rely only on the abstract because data in the abstract may not appear in the content, or may be inconsistent (Cardiff University 2013).
Patient support groups
Patient support groups are generally a good source of information written in lay terms. However, it is sensible to look at the information they provide because this may not be evidence based. An example of how a good support group can provide information is illustrated in Tom’s story (Telling Stories: Understanding Real Life Genetics 2006c): ‘The only positive way to help families is to advertise the help that CMT UK can give and to increase the size of its membership. It is rare to find its good work being advertised nationally or mentioned in the daily press or in hospital trusts. There is a long way to go!’
Genetics services
The local genetics service will always be able to provide information, act as a resource and give advice regarding the management of care for individuals. An example of how the genetics service can provide help is illustrated in Box 4. Details of where to access local services can be found on the British Society for Genetic Medicine website (www.bsgm.org.uk).
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Further information The DH funds the NHS National Genetics and Genomics Education Centre (www. geneticseducation.nhs.uk), as one of the initiatives of the white paper Our Inheritance, Our Future (DH 2003). The centre is a resource for understanding genetics and learning how to draw a family history, and it provides links to other useful websites for learners and tutors. The centre works with a range of groups to facilitate the integration of education in genetics and genomics into all levels of education and training for NHS healthcare professionals. Tonkin et al (2011) reviewed genomic education resources for nursing addressing why there is a need for resources, what is required from a resource, and how the quality and effect of a resource can be measured. Tonkin et al (2011) provided a number of resources for nurse educators, which can also be accessed by all healthcare professionals.
Conclusion The well-informed nurse can play an important role in the care of people with a genetic condition. Credible current information communicated to individuals in an easily understandable manner will enable them to understand the condition and its affect on them and their family. In addition, well-informed nurses will be able to refer individuals to other relevant healthcare professionals and their local genetics service NS
BOX 4 Case study While Maria is having her vision checked in the ophthalmic outpatient department, she asks Simon, the staff nurse, about trials that she wants to participate in. Maria produces a collection of articles about stem cell research into genetic ophthalmic diseases, explains that she has retinitis pigmentosa and feels that this research would help her. Simon is aware that the ophthalmic outpatient department holds a clinic in conjunction with the genetics department and asks the registrar who attends this clinic about the research. The registrar gives Simon the contact details of the genetic counsellor who also attends the clinic because she has more information. Simon explains the situation to Maria, takes her contact details and assures her he will phone her when he has more information. Simon contacts the genetic counsellor who explains the nature of the stem cell research and why it is not suitable for this patient. However, she does give him information about a further study that is investigating the genetic aspects of retinitis pigmentosa specifically and offers Maria an appointment to discuss this further. The genetic counsellor gives Simon the references for him to read up about stem cell research and the information regarding the retinitis pigmentosa study. Having read this information, Simon is able to call Maria and inform her of the available study and explain why stem cell research would not be appropriate. Maria is very grateful and asks him to make an appointment for her to discuss the retinitis pigmentosa study with the genetic counsellor.
Acknowledgement Thanks to Maggie Kirk, professor of genetics education, Genomics Policy Unit, Faculty of Life Sciences and Education, University of South Wales, for her guidance and contribution in co-ordinating and developing this series.
References Burton H (2011) Genetics and Mainstream Medicine: Service Development and Integration. PHG Foundation, Cambridge.
Evans C (2006) Genetic Counselling: A Psychological Approach. Cambridge University Press, Cambridge.
Cardiff University (2013) Critical Appraisal of Health Care Literature. www.cardiff.ac.uk/insrv/ resources/guides/inf083.pdf (Last accessed: November 26 2013.)
Harrison CJ (2000) The management of patients with leukaemia: the role of cytogenetics in this molecular era. British Journal of Haematology. 108, 1, 19-30.
Department of Health (2003) Our Inheritance, Our Future: Realising the Potential of Genetics in the NHS. The Stationery Office, London.
Kirk M, Tonkin E, Skirton H (2013) 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
Department of Health (2012) Building on Our Inheritance: Genomic Technology in Healthcare. A Report by the Human Genomics Strategy Group. The Stationery Office, London. Emslie C, Hunt K, Watt G (2003) A chip off the old block? Lay understandings of inheritance among men and women in mid-life. Public Understanding of Science. 12, 1, 47-65.
Klitzman RL (2010) Misunderstandings concerning genetics among patients confronting genetic disease. Journal of Genetic Counseling. 19, 5, 430-446. Murakami Y, Gondo N, Okamura H, Akechi T, Uchitomi Y (2001) Guilt
from negative genetic test findings. American Journal of Psychiatry. 158, 11, 1929. Nursing and Midwifery Council (2008) The Code: Standards of Conduct, Performance and Ethics for Nurses and Midwives. NMC, London. Sandberg AA, Meloni-Ehrig AM (2010) Cytogenetics and genetics of human cancer: methods and accomplishments. Cancer Genetics and Cytogenetics. 203, 2, 102-126. Skirton H, Patch C (2002) Genetics for Healthcare Professionals: A Lifestage Approach. BIOS Scientific Publishers, Oxford. Telling Stories: Understanding Real Life Genetics (2006a) A Parent’s Story: The Need for Clear Information, Not False Reassurance. www.tellingstories.nhs.uk/ stories.asp?id=12 (Last accessed: November 26 2013.)
Telling Stories: Understanding Real Life Genetics (2006b) Nobody’s Fault – Achondroplasia. www.tellingstories.nhs.uk/ stories.asp?id=39 (Last accessed: November 26 2013.) Telling Stories: Understanding Real Life Genetics (2006c) Tom’s Story: The Role of Support Groups in Providing Information. www.tellingstories.nhs.uk/ stories.asp?id=9 (Last accessed: November 26 2013.) Telling Stories: Understanding Real Life Genetics (2009) Living with Charcot-Marie-Tooth: A Husband’s Tale. www. tellingstories.nhs.uk/stories. asp?id=43 (Last accessed: November 26 2013.) Tonkin E, Calzone K, Jenkins J, Lea D, Prows C (2011) Genomic education resources for nursing faculty. Journal of Nursing Scholarship. 43, 4, 330-340.
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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
Obtaining and communicating information about genetics and genomics Fairgrieve S, McDonnell S (2013) Obtaining and communicating information about genetics and genomics. Nursing Standard. 28, 15, 37-41. Date of submission: December 19 2012; date of acceptance: June 14 2013.
Abstract This is the eighth article in a series looking at how nurses can develop competence in genetics and genomics health care. The article explores the many ways in which nurses can acquire up to date and accurate genetic and genomic information, with the intention of improving their knowledge base. It enables nurses to discover the best ways of giving specific and complex information to patients and colleagues effectively and using straightforward language.
Authors Susan Fairgrieve Principal genetic counsellor, Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne. Sharon McDonnell Principal genetic counsellor, Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne. Correspondence to: [email protected]
Keywords Communication, critical appraisal, genetics information, resources
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.
GENETIC AND GENOMIC SCIENCE is developing rapidly and plays an increasing role in medical care. The development of genetics into mainstream medicine has provided the motivation for competency 7 of the revised framework for genetics/genomics for nurse education (Kirk et al 2013) (Box 1). Scenarios and stories from the Telling Stories: Understanding Real Life Genetics website (www.tellingstories.nhs.uk) will be used to illustrate the nurse’s role in providing genetic and genomic information, and the difference this makes to patient care. Ways in which the nurse can acquire knowledge and keep abreast of current information will be discussed with reference to where further information can be accessed.
Importance of this competency Competency 7 is important to enable nurses to keep up to date with advances in genetic and genomic science relevant to their area of practice. To be a competent practitioner, it is essential for
BOX 1 Competency 7 Obtain and communicate credible, current information about genetics/genomics, for self, patients, families and colleagues: Using information technologies and other information sources effectively to do so. Applying critical appraisal skills to assess the quality of information accessed. (Kirk et al 2013)
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Art & science competency standards: 7 nurses to recognise the importance of having basic genetic knowledge and to update this knowledge regularly from credible and current resources. The Nursing and Midwifery Council’s (2008) code of practice requires nurses to ‘recognise and work within the limits of your competence’ and ‘keep your knowledge and skills up to date throughout your working life’. It is the healthcare professional’s responsibility to provide clear information and not false reassurance (Box 2). One parent’s story illustrates how information given by a healthcare professional can be misleading (Telling Stories: Understanding Real Life Genetics 2006a): ‘When the results came in, our GP told us not to worry, that the disease wasn’t very serious and recommended that we don’t go and do a search for alkaptonuria on the internet because it would make us worried.’ Part of the motivation for competency 7 is the increase in knowledge about more than 15,000 recognised genetic disorders and the amount of information available on the internet. Nurses cannot be expected to know all this information. They do, however, need to be effective managers of information, including identifying and accessing relevant resources, evaluating content, synthesising this for their own benefit and communicating it to patients, relatives and colleagues. There may also be a role in teaching and/or communicating information to junior colleagues. The documents Genetics and Mainstream Medicine (Burton 2011) and Building on Our Inheritance (Department of Health (DH) 2012)
BOX 2 Case study Judith is a staff nurse based on a neurology ward. Fred, aged 58, has been admitted for investigation of recent falls and unsteady gait. During his admission, he tells Judith that his mother had similar problems, but at a much younger age. On further questioning about his mother, Fred explains that she had Huntington’s disease, but he knows this is not something he can have since he is too old and is male and only females are affected. Judith has heard of Huntington’s disease, but is uncertain about the facts of the disease. She researches the disease on the internet and contacts the local genetics centre for information. She is told about the inheritance pattern, available testing and the risks to other family members. After discussing her findings with the registrar on the neurology ward, Judith explains to Fred and his wife the facts about Huntington’s disease and that he is still at risk. She discusses the implications for their children with regard to testing and also the help and support available if he does have the disease. Now that they have accurate information about the condition, the couple make an informed choice and Fred is tested for Huntington’s disease and found to carry the gene. He is then referred to the specialist Huntington’s disease team where his condition is managed.
highlighted how genetics and genomics is being integrated into everyday care. The following two examples illustrate how genetic and genomic science affects mainstream medicine: More patients are being identified from population screening programmes such as the NHS Newborn Blood Spot Screening Programme (newbornbloodspot.screening.nhs. uk). When a genetic disorder is identified in a baby, the information enables the baby’s parents to make decisions about future pregnancies and inform other family members about their risk of being carriers. Further information is available on the UK National Screening Committee’s website (www.screening.nhs.uk). Genetic testing is helping with diagnosis and assessment of appropriate individualised treatment options. In cases of leukaemia, cytogenetic investigation of bone marrow cells for chromosomal change helps to provide a definitive diagnosis and prognostic indicator leading to appropriate treatment (Harrison 2000). This technique has progressed and is now used for other types of cancer such as some sarcomas and lymphomas (Sandberg and Meloni-Ehrig 2010).
Benefits to patients and patient and/or family care In addition to the benefits to the patient of a definitive diagnosis and individualised treatment, genetic and genomic science provides information that affects the individual and his or her family. One particular story illustrates how a health visitor becoming well informed about a condition was associated strongly with a mother’s positive experience. It is important to note that Maria, whose son was diagnosed with the genetic condition achondroplasia, did not mind that the health visitor did not initially know anything about the condition (Telling Stories: Understanding Real Life Genetics 2006b): ‘It was just very fortunate for us that we had a brilliant health visitor who gave us all the support she could offer. She helped us find out all that she could, even though she knew as little as we did. She spent much of her own time doing research on the internet about the condition and where to get some special growth charts for my son to record his progress. There were numerous amounts of calls made by her to our consultant in an effort to get appointments or just to chase things up. She also, with the help of our GP, made sure that we got referrals to all the right people and got a different consultant. We were just made to feel very looked after, in spite of
38 december 11from :: volRCNi.com 28 no 15by:: ${individualUser.displayName} 2013 NURSING STANDARD / RCN Downloaded on Nov 15, 2015.©For personal use only. No other usesPUBLISHING without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
the fact that the rest of the system seemed to be failing us. It felt like somebody was on our side and looking after our best interests.’ Secondary to the diagnosis of a genetic condition is finding out who else in the family is at risk of being affected by or a carrier of the condition. Individuals may experience feelings of blame and/or guilt at passing a condition on to their children, as in myotonic dystrophy, or passing on a genetic mutation which increases their chance of developing a cancer (Murakami et al 2001, Evans 2006). Communication is a two-way process – listening to patients will provide information about their condition, social circumstances and the understanding they have about their condition. Patients can be the experts with regard to the physical symptoms of their condition, especially if their condition is rare. When attending the hospital, Alan’s wife Eleanor, who has Charcot-Marie-Tooth, always takes information leaflets with her where they are gratefully received by staff who have little knowledge of the condition. Staff are subsequently better informed to help the next patient who has Charcot-Marie-Tooth have a more positive experience. In this story, the point is also made that not all problems experienced by the patient are as a result of the condition (Telling Stories: Understanding Real Life Genetics 2009): ‘I think the one thing I would always say to any health professional in terms of anybody with a neurological condition like Eleanor has got is – don’t hide behind that condition. They don’t say that everything that you’ve got wrong with you must be your CMT [Charcot-Marie-Tooth].’ However, while Eleanor was happy to give information to healthcare staff, patients and families affected by genetic conditions may find having to explain the condition every time they attend hospital frustrating. The Online Mendelian Inheritance in Man (www.omim.org) is a database of single-gene disorders containing detailed technical information on clinical features and mutations.
The nurse’s role Nobody’s Fault – Achondroplasia (Telling Stories: Understanding Real Life Genetics 2006b) illustrates how part of the nurse’s role is being with the patient and/or family as they work their way through information. Obtaining credible, current information will enable the nurse to signpost patients and carers to credible resources for information and support such as Contact a Family
(www.cafamily.org.uk) and Genetic Alliance UK (www.geneticalliance.org.uk). For some parents who may have known there was something wrong with their child and not having a diagnosis for several years, the provision of a diagnosis can be a relief. However, this initial relief is sometimes followed by the question: ‘where do we go from here?’. If the nurse gains further information about the genetic condition, then he or she will be in a better position to signpost the family to appropriate resources and refer them to other relevant healthcare professionals, including the genetics service. The nurse’s role includes informing and/or teaching and explaining some of the core concepts of genetics to patients and colleagues to reinforce what they have already been told and dispel some common myths. Often, people have preconceived ideas regarding how conditions run in families, such as ‘it only affects the first born’ or ‘I don’t look like my mother’s side of the family’. It is important to listen to their ideas, obtain as accurate a family history as possible and have an understanding of the different patterns of inheritance. This will help family members understand the risk of developing a genetic condition (Emslie et al 2003, Klitzman 2010). When communicating genetic information, the nurse should be non-judgemental and sensitive to the individual’s beliefs. This is a crucial aspect of genetic counselling that is explored further by Skirton and Patch (2002) and Evans (2006). Explaining genetics can be a daunting task, but keeping explanations simple and using layman’s terms and analogies can help, such as: ‘Our bodies are made of trillions of cells, within the cells there is a nucleus or information centre. Within the nucleus there are thread-like structures called chromosomes. Chromosomes are packaging for genes. Genes are like a recipe which makes a protein necessary for the cell to function. If the recipe for a sponge cake has an alteration to the recipe such as no eggs then the result will not be a sponge cake. Similarly, if there is an alteration or mutation in the gene then the cell will not produce the protein necessary for the cell to function properly.’ While people might sometimes appear to understand genetic concepts that are explained to them, further questioning to check their understanding might reveal that they have not fully understood the explanation. Diagrams can be particularly effective when trying to explain patterns of inheritance. Such diagrams and explanations of patterns of inheritance can be downloaded from the Genetic Alliance UK and Genetics Home Reference (www.ghr.nlm.nih.gov) websites. There is also an education resource,
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Art & science competency standards: 7 GeneEd (geneed.nlm.nih.gov/index.php) for personal use, or to use when teaching or talking to colleagues. Tonkin et al (2011) explained how the use of resources can help in the learning process.
Achieving this competency Genetic knowledge can be acquired through formal education, but because of the nature of this rapidly developing science it is important for nurses to update their understanding of genetics regularly. Formal education may be gained through academic courses, study days and conferences. While this provides theoretical knowledge, nurses then need to incorporate this into the holistic care of the individual, taking into consideration the genetic issues that may be raised for the person’s children and wider family. Skirton and Patch (2002) provide further information about genetic concepts and use case examples to demonstrate the effect of these concepts on patients and their families.
Textbooks, journals and web-based resources
Textbooks and journals are helpful sources of information, however it is important to check the date of publication because they may contain out-of-date information given that genetics is a rapidly evolving field of medicine. The details of some useful resources are given in Box 3. Obtaining genetic information is assisted by access to the internet, which can provide up-to-date information, however there is no governance over
BOX 3 Useful genetics resources for nurses and midwives Haydon J (2007) Genetics in Practice: A Clinical Approach for Health Care Practitioners. John Wiley and Sons, Chichester. Case studies are used to explain models of inheritance and explore the possibilities for families following a genetic diagnosis. Skirton H, Patch C (2002) Genetics for Healthcare Professionals: A Lifestage Approach. BIOS Scientific Publishers, Oxford. Genetic concepts are explained and case examples are used to demonstrate the effect of genetics on patients and their families. Bradley-Smith G, Hope S, Firth HV, Hurst JA (2010) Oxford Handbook of Genetics. Understanding Genetics – A Guide for the Non-specialist. Oxford University Press, Oxford. This is a useful resource for the science of genetics, including genetic conditions and the effect these may have on the family. Read A, Donnai D (2007) New Clinical Genetics. Scion Publishing, Bloxham. Realistic case studies are used to illustrate genetic testing and show how genetics works in the clinical setting. Jackson JF (1996) Genetics and You. Humana Press Inc, Totowa NJ. Genetic information is provided for medical and non-medical people. Balkwill F, Rolf M (1993) DNA is Here to Stay. Lerner Publishing Group, Minneapolis MN. This is a useful resource for explaining genetics to children.
the content of websites. It is an individual’s own preference as to which approach is best for him or her, so it is worth doing some personal research and bookmarking preferred sites. Whether accessing information via textbooks, journals or the internet, it is important to think about how reliable the information is and to critically appraise it. Help with developing critical appraisal skills can be obtained via university libraries, for example Cardiff University (2103) has a useful guide entitled Critical Appraisal of Health Care Literature. The National Human Genome Research Institute website (www.genome.gov/11008303) provides guidance on assessing health information online. Trust It or Trash It? (www.trustortrash.org) provides an assessment tool to evaluate health information. Points to bear in mind when appraising information include how well known the author is, whether there is evidence of the sources of information and whether the information is based on research or an individual’s own experience. In journal articles, points to consider are the integrity of the journal and whether the articles are peer reviewed. More importantly, it is not wise to rely only on the abstract because data in the abstract may not appear in the content, or may be inconsistent (Cardiff University 2013).
Patient support groups
Patient support groups are generally a good source of information written in lay terms. However, it is sensible to look at the information they provide because this may not be evidence based. An example of how a good support group can provide information is illustrated in Tom’s story (Telling Stories: Understanding Real Life Genetics 2006c): ‘The only positive way to help families is to advertise the help that CMT UK can give and to increase the size of its membership. It is rare to find its good work being advertised nationally or mentioned in the daily press or in hospital trusts. There is a long way to go!’
Genetics services
The local genetics service will always be able to provide information, act as a resource and give advice regarding the management of care for individuals. An example of how the genetics service can provide help is illustrated in Box 4. Details of where to access local services can be found on the British Society for Genetic Medicine website (www.bsgm.org.uk).
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Further information The DH funds the NHS National Genetics and Genomics Education Centre (www. geneticseducation.nhs.uk), as one of the initiatives of the white paper Our Inheritance, Our Future (DH 2003). The centre is a resource for understanding genetics and learning how to draw a family history, and it provides links to other useful websites for learners and tutors. The centre works with a range of groups to facilitate the integration of education in genetics and genomics into all levels of education and training for NHS healthcare professionals. Tonkin et al (2011) reviewed genomic education resources for nursing addressing why there is a need for resources, what is required from a resource, and how the quality and effect of a resource can be measured. Tonkin et al (2011) provided a number of resources for nurse educators, which can also be accessed by all healthcare professionals.
Conclusion The well-informed nurse can play an important role in the care of people with a genetic condition. Credible current information communicated to individuals in an easily understandable manner will enable them to understand the condition and its affect on them and their family. In addition, well-informed nurses will be able to refer individuals to other relevant healthcare professionals and their local genetics service NS
BOX 4 Case study While Maria is having her vision checked in the ophthalmic outpatient department, she asks Simon, the staff nurse, about trials that she wants to participate in. Maria produces a collection of articles about stem cell research into genetic ophthalmic diseases, explains that she has retinitis pigmentosa and feels that this research would help her. Simon is aware that the ophthalmic outpatient department holds a clinic in conjunction with the genetics department and asks the registrar who attends this clinic about the research. The registrar gives Simon the contact details of the genetic counsellor who also attends the clinic because she has more information. Simon explains the situation to Maria, takes her contact details and assures her he will phone her when he has more information. Simon contacts the genetic counsellor who explains the nature of the stem cell research and why it is not suitable for this patient. However, she does give him information about a further study that is investigating the genetic aspects of retinitis pigmentosa specifically and offers Maria an appointment to discuss this further. The genetic counsellor gives Simon the references for him to read up about stem cell research and the information regarding the retinitis pigmentosa study. Having read this information, Simon is able to call Maria and inform her of the available study and explain why stem cell research would not be appropriate. Maria is very grateful and asks him to make an appointment for her to discuss the retinitis pigmentosa study with the genetic counsellor.
Acknowledgement Thanks to Maggie Kirk, professor of genetics education, Genomics Policy Unit, Faculty of Life Sciences and Education, University of South Wales, for her guidance and contribution in co-ordinating and developing this series.
References Burton H (2011) Genetics and Mainstream Medicine: Service Development and Integration. PHG Foundation, Cambridge.
Evans C (2006) Genetic Counselling: A Psychological Approach. Cambridge University Press, Cambridge.
Cardiff University (2013) Critical Appraisal of Health Care Literature. www.cardiff.ac.uk/insrv/ resources/guides/inf083.pdf (Last accessed: November 26 2013.)
Harrison CJ (2000) The management of patients with leukaemia: the role of cytogenetics in this molecular era. British Journal of Haematology. 108, 1, 19-30.
Department of Health (2003) Our Inheritance, Our Future: Realising the Potential of Genetics in the NHS. The Stationery Office, London.
Kirk M, Tonkin E, Skirton H (2013) 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
Department of Health (2012) Building on Our Inheritance: Genomic Technology in Healthcare. A Report by the Human Genomics Strategy Group. The Stationery Office, London. Emslie C, Hunt K, Watt G (2003) A chip off the old block? Lay understandings of inheritance among men and women in mid-life. Public Understanding of Science. 12, 1, 47-65.
Klitzman RL (2010) Misunderstandings concerning genetics among patients confronting genetic disease. Journal of Genetic Counseling. 19, 5, 430-446. Murakami Y, Gondo N, Okamura H, Akechi T, Uchitomi Y (2001) Guilt
from negative genetic test findings. American Journal of Psychiatry. 158, 11, 1929. Nursing and Midwifery Council (2008) The Code: Standards of Conduct, Performance and Ethics for Nurses and Midwives. NMC, London. Sandberg AA, Meloni-Ehrig AM (2010) Cytogenetics and genetics of human cancer: methods and accomplishments. Cancer Genetics and Cytogenetics. 203, 2, 102-126. Skirton H, Patch C (2002) Genetics for Healthcare Professionals: A Lifestage Approach. BIOS Scientific Publishers, Oxford. Telling Stories: Understanding Real Life Genetics (2006a) A Parent’s Story: The Need for Clear Information, Not False Reassurance. www.tellingstories.nhs.uk/ stories.asp?id=12 (Last accessed: November 26 2013.)
Telling Stories: Understanding Real Life Genetics (2006b) Nobody’s Fault – Achondroplasia. www.tellingstories.nhs.uk/ stories.asp?id=39 (Last accessed: November 26 2013.) Telling Stories: Understanding Real Life Genetics (2006c) Tom’s Story: The Role of Support Groups in Providing Information. www.tellingstories.nhs.uk/ stories.asp?id=9 (Last accessed: November 26 2013.) Telling Stories: Understanding Real Life Genetics (2009) Living with Charcot-Marie-Tooth: A Husband’s Tale. www. tellingstories.nhs.uk/stories. asp?id=43 (Last accessed: November 26 2013.) Tonkin E, Calzone K, Jenkins J, Lea D, Prows C (2011) Genomic education resources for nursing faculty. Journal of Nursing Scholarship. 43, 4, 330-340.
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