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
Genetics: advocating for the rights of all individuals to informed decision making and voluntary action 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. Date of submission: December 21 2012; date of acceptance: May 7 2013.
Abstract This is the fourth article in a series describing how nurses can develop their confidence and competence in genetics and genomics health care. The focus of this article is the right of the individual to make an informed choice, to be supported to make that choice and to do so in a voluntary manner. Nurses are well placed to support patients who may be considering genetic testing and are often responsible for gaining their consent for such investigations. It is essential that they provide balanced information in a way that the patient can understand and are able to explain the different options and possible outcomes of genetic tests, while considering the wider implications this may have on the patient’s family.
Authors Lesley Goldsmith, research fellow and Heather Skirton, professor in health genetics, School of Nursing and Midwifery, Plymouth University, Plymouth. Correspondence to: [email protected]
THIS ARTICLE FOCUSES on competency 3 of the revised framework for genetics/genomics (Kirk et al 2013), which relates to nurses’ understanding of the rights of patients to make a fully informed decision when consenting to genetic or genomic tests (Box 1). Ensuring patients give informed consent to any procedure is a fundamental responsibility of every nurse. The Nursing and Midwifery Council (NMC) (2012) states that nurses and midwives have three overriding professional responsibilities with regard to obtaining consent: To make the care of people their first concern and ensure they gain consent before they begin any treatment or care. To ensure that the process of establishing consent is rigorous, transparent and
BOX 1 Competency 3
Keywords Consent, decision making, genetics, genomics, information provision
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.
Advocate for the rights of all individuals to informed decision making and voluntary action: Based on an awareness of the potential for misuse of human genetic/genomic information. Understanding the importance of delivering genetic/genomic education and counselling fairly, accurately and without coercion or personal bias. Recognising that personal values and beliefs of self and individual may influence the care and support provided during decision making, and that choices and actions may differ over time. (Kirk et al 2013)
©Downloaded NURSINGfrom STANDARD / RCN PUBLISHING november 13 :: vol 28 no 11 :: 2013 37 RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
Art & science competency standards: 3 demonstrates a clear level of professional accountability. To record accurately all discussions and decisions relating to obtaining consent. However, to fulfil these responsibilities nurses require an understanding of the process of informed consent and its constituent parts, namely provision of information, capacity of the patient and lack of coercion (NMC 2012). Nurses also need to be aware of the possible influence that personal values and beliefs, not only of the patient, but also of themselves, may have on the decision-making process.
Importance of this competency Nurses working in a range of settings are involved in supporting patients who are considering genetic testing, for example in cardiology, neurology, haematology, paediatrics, gynaecology and oncology, as well as in primary care. In these settings, nurses may have a role in providing patients with relevant information and obtaining their consent for testing. Rapid advances in the field of genetics and genomics in the past decade have direct implications for clinical care. For example, presymptomatic and diagnostic genetic tests are being offered to patients in specialties such as neurology (presymptomatic test for Huntington’s
BOX 2 Case study George was the first child of Helen and James. Until the age of three he appeared to be developing normally, but his parents then noticed he was having difficulty running and could not keep up with his peers. His family doctor examined him and referred him to a paediatrician. Duchenne muscular dystrophy was suspected and George had a blood sample taken for genetic testing. A deletion was found in the relevant gene and George did not require any further investigations to make the diagnosis.
BOX 3 Issues to be discussed during the consent process Knowledge of a family history of a condition or disease, or genetic test results, has potential benefit to other family members. Communication of certain aspects of information to family members may, therefore, be recommended. Possibility of unexpected or incidental findings from genetic testing and how these might be managed. Predictive nature of certain genetic tests. (Royal College of Physicians et al 2011)
disease) and oncology (test for mutations in the BRCA1 and BRCA2 genes). Genetic and genomic tests are in many cases replacing other investigations to enable a more rapid or reliable diagnosis of a condition. For example, a genetic test for relevant mutations may be used to diagnose cystic fibrosis in place of a sweat test, while a painful muscle biopsy may be replaced by a genetic test for patients suspected of having one of the many types of muscular dystrophy (NHS Choices 2011) (Box 2). Other technologies are being introduced that have relevance to nursing and midwifery care. One of these is non-invasive prenatal testing, involving analysis of cell-free fetal deoxyribonucleic acid present in maternal blood (Hill et al 2011). In the UK, non-invasive prenatal testing for sex determination is offered in pregnancies where the fetus is at risk of a condition specific to one sex (Reliable Accurate Prenatal non-Invasive Diagnosis 2013), while non-invasive prenatal testing for single gene disorders and Down syndrome is being developed and validated (Bianchi et al 2012). Another development in the field of health genomics that nurses should be aware of is direct-to-consumer testing. Tests can be ordered via the internet, by which an individual can obtain information about their susceptibility to common conditions such as coronary heart disease or diabetes. Some companies offer carrier testing, which involves a test to determine whether a person carries an altered copy of a gene for a recessive condition. The evidence base for many of the susceptibility tests is weak and they are not currently available through the NHS, but people may ask nurses for advice before or after buying such a test (Goldsmith et al 2012).
The nurse’s role Nurses are frequently responsible for obtaining informed consent for investigations. This involves providing information on the test being offered, answering any questions and explaining the possible implications of the test to the patient and the wider family. To comply with the Mental Capacity Act 2005, a nurse taking blood or other biological material for a genetic test needs to ensure that the patient has received appropriate information in an accessible format, and that the information and its implications have been fully understood. The nurse might also have a role in obtaining informed consent from the patient and recording this in the medical records.
38 november 13 :: vol 28 no 11 :: 2013 © NURSING STANDARD / RCN PUBLISHING Downloaded from RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
In situations where having a test may involve making a difficult decision following the result, it is important for the patient to be given balanced information, and for the various options to be explained. The patient must have the capacity to understand the information, and weigh up the risks and benefits of the procedure to which they are consenting. Evidence has shown inconsistency in the level of knowledge and experience of genetics among healthcare professionals and the public (Henneman et al 2004, Baars et al 2005), and it is possible therefore that consent may not always be valid. The importance of obtaining informed consent with regard to genetic and genomic testing is outlined by the Joint Committee on Medical Genetics (Royal College of Physicians et al 2011), and some of the issues to be discussed during the consent process are outlined in Box 3. In any healthcare context, nurses may be providing care for those who lack mental capacity, for example because of a learning disability. The aim of the Mental Capacity Act 2005 is to protect those who may be unable to give consent. When considering a person’s capacity to make a decision, there are two questions that the healthcare professional needs to ask: Does the person have an impairment of the mind or brain, or is there some sort of disturbance affecting the way his or her mind or brain works? If so, does that impairment or disturbance mean that the person is unable to make the decision in question at the time it needs to be made? Before deciding that a person does not have capacity to give consent to a health intervention, the nurse should ensure that all relevant information has been provided, and that this information has been communicated in a way that the person will understand (Box 4).
Benefits to patients and patient and/or family care When the decision to have a genetic test is made, it is not only the patient who has to be considered, but the fact that the results could have implications for the wider family. It is important, therefore, that any decision and the potential effects on other family members are considered carefully. This is particularly relevant when considering reproductive decisions, and patients need to be comfortable with the values that are involved in these decisions. In a clinical situation
such as offering presymptomatic or prenatal testing, patients need to be given balanced information that is free from the clinician’s prejudice, and given time to make what could be a life-changing decision about whether or not to have such a test. Information provision is an essential part of shared decision making (Department of Health (DH) 2010), and it is good practice to offer written information, such as a leaflet or post-consultation summary letter, to enable patients to consider the information in their own time. The importance of offering appropriate information and supporting patients to make decisions is illustrated in the following two real-life examples. Marianne describes the time when her son was given a genetic test soon after birth and subsequently diagnosed with a life-limiting chromosomal condition, Edwards’ syndrome (trisomy 18) (Box 5). She was not given information
BOX 4 Case study Mike, aged 23, has learning disabilities and has been diagnosed with type 1 diabetes. It is proving difficult to control his diabetes with insulin, and the diabetes specialist nurse suggests that he might have maturity onset diabetes of the young (MODY), which is caused by a genetic mutation. The treatment for MODY is dependent on the specific mutation involved, but in most cases insulin therapy can be discontinued. This could be investigated using a genetic test based on a blood sample. The diabetes specialist nurse explains the test verbally, but also gives Mike written information about the test. This is specially prepared and is written in simple language with accompanying photographs and images. It includes the reason for the test, what it involves and risks that might arise from either having or not having the test. It is made clear to Mike that he can accept or decline the test. One week later, the nurse sees Mike to discuss the test again. He has decided he will have the genetic test. She asks him to explain his reasons for wanting the test, and he replies that it might help to find the reason for his diabetes and help the doctor find the best treatment for him. Because Mike demonstrates he has the capacity to understand the test and its implications, the nurse takes a blood sample. The result indicates that Mike has a mutation that causes MODY, he is able to cease taking insulin and his diabetes is subsequently well controlled with tablets.
BOX 5 Marianne’s story ‘I didn’t see him until the next day and then I was told that they were checking for chromosomal abnormalities and that they were sending off for FISH, which we had no idea what that, sort of, meant at the time, so that was that.’ ‘Yeah, we were basically told that James had an extra 18th chromosome which was trisomy 18 but Edwards’ syndrome is the name of the doctor who found it, and it was completely unusual, you know. We had no idea what this meant.’ (Telling Stories: Understanding Real Life Genetics 2011a)
©Downloaded NURSINGfrom STANDARD / RCN PUBLISHING november 13 :: vol 28 no 11 :: 2013 39 RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
Art & science competency standards: 3 in a form that she was able to understand: patients may not understand such technical terms as FISH, for example. Information needs to be tailored to the needs of the individual. Marianne was, therefore, unable to make an informed choice. She was also not given detailed information about the chromosomal abnormalities that were being tested for. Edward’s syndrome is a condition that causes severe physical and mental abnormalities. Diane underwent colectomy for familial adenomatous polyposis, an inherited condition that predisposes the patient to multiple polyps and colon cancer. Colectomy is usually performed in a patient with this condition, either to treat colon cancer, if the condition was previously unknown in the family, or as a preventive measure. Diane explained how the nursing staff involved in her care appeared to have little knowledge of the reason for her surgery, or the genetics involved (Box 6).
Achieving this competency People with or at risk of genetic conditions have expressed the view that healthcare professionals working outside genetic services need to have a greater awareness of genetics and be willing to refer appropriately (Kroese 2012). Nurses working outside specialist genetic roles, therefore, need to
BOX 6 Diane’s story ‘My consultant has neither the time or shows any interest or knowledge of the disease therefore I do not receive any support/advice from him. None of the nurses during my times in hospital asked me for the reason I need a colectomy and I am often met with blank stares when I try to explain my medical history.’ Diane is worried about the implications of her own condition for her daughter. She is anxious that when her daughter is of an age and level of understanding to be able to make an informed decision, she is provided with the relevant information. This story demonstrates that every individual has the right to make his or her own informed decision. For this to be possible, healthcare professionals also need to be fully informed of the facts. (Telling Stories: Understanding Real Life Genetics 2011b)
BOX 7 Factors contributing to informed consent Disclosure of information. Voluntariness (freedom from coercion). Competence and/or capacity. (Appelbaum et al 1987)
be aware of current developments in genetics and genomics, and the range of tests that may either be offered to patients in an NHS setting or available to them direct-to-consumer (Skirton et al 2012). They need to be familiar with the requirements of the Mental Capacity Act (2005): Code of Practice (Department for Constitutional Affairs 2007), with particular regard to informed consent, the process to be followed and the principles involved (DH 2009) (Box 7). In recent years, there has been a move away from the paternalistic model of decision making in which the healthcare professional made the decisions, to a shared decision-making model in which information is shared and discussed with the patient (Elwyn et al 2000). This should mean that healthcare professionals will become aware of any values or cultural beliefs that may affect a patient’s decision, and provide appropriate support. Each situation will be different, but it is important for nurses to understand that genetic testing may have implications for the wider family, and that patients may have different requirements in terms of information provision and understanding. Information should be tailored to the individual and provided in a non-judgemental way. A nurse must also be capable of judging whether or not a person has the capacity to make the decision to have a genetic test, and to seek advice if there is any doubt about capacity. Assessing a patient’s understanding is sometimes challenging and it is often helpful, in the case of someone with a learning disability for example, to confirm that the patient has understood the information by asking them to repeat it. Nurses also need to be aware that factors such as anxiety may affect a patient’s decision-making processes (Graugaard and Finset 2000), and that capacity may fluctuate in conditions such as dementia. If the person is assessed as not having capacity to give consent, then a decision to give treatment based on the belief that this is in the best interests of the patient will normally have to be made. This always requires consultation with the patient and others who know the person well. Consent to genetic testing in children is a specific issue for consideration. Further information on this as well as other aspects of genetics and genomics is provided in Box 8.
Conclusion With genetics and genomics increasingly being integrated into general health care,
40 november 13 :: vol 28 no 11 :: 2013 © NURSING STANDARD / RCN PUBLISHING Downloaded from RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
it is important that nurses are familiar with the general principles and the types of tests that are relevant to their specialty. In addition, knowledge of a patient’s right to make a fully informed decision and to receive non-directive counselling as part of this process is essential NS 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.
BOX 8 Further information on consent, and aspects of genetics and genomics Consent and Confidentiality in Clinical Genetic Practice: Guidance on Genetic Testing and Sharing Genetic Information: www.bsgm.org.uk/ media/678746/consent_and_confidentiality_2011.pdf Genetics/Genomics in Nursing and Midwifery: Task and Finish Group Report to the Nursing and Midwifery Professional Advisory Board: www.gov.uk/government/uploads/system/uploads/attachment_data/ file/215250/dh_131947.pdf Mental Capacity Act 2005: Code of Practice: www.justice.gov.uk/ downloads/protecting-the-vulnerable/mca/mca-code-practice-0509.pdf Report on the Genetic Testing of Children 2010: www.ethox.org.uk/ Documents%20and%20images/GTOC_2010_BSHG.pdf (Last accessed: October 30 2013)
References Appelbaum P, Lidz C, Meisel A (1987) Informed Consent: Legal Theory and Clinical Practice. Oxford University Press, Fair Lawn, NJ. Baars MJ, Henneman L, Ten Kate LP (2005) Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genetics in Medicine. 7, 9, 605-610. Bianchi DW, Platt LD, Goldberg JD et al (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics and Gynecology. 119, 5, 890-901. Department for Constitutional Affairs (2007) Mental Capacity Act 2005: Code of Practice. The Stationery Office, London. Department of Health (2009) Reference Guide to Consent for Examination or Treatment. Second edition. tinyurl.com/of7acma (Last accessed: October 30 2013.) Department of Health (2010) Equity and Excellence: Liberating the NHS. The Stationery Office, London. Elwyn G, Edwards A, Kinnersley P, Grol R (2000) Shared decision
making and the concept of equipoise: the competences of involving patients in healthcare choices. British Journal of General Practice. 50, 460, 892-899. Goldsmith L, Jackson L, O’Connor A, Skirton H (2012) Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. European Journal of Human Genetics. 20, 8, 811-816. Graugaard PK, Finset A (2000) Trait anxiety and reactions to patient-centered and doctor-centered styles of communication: an experimental study. Psychosomatic Medicine. 62, 1, 33-39.
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. Kroese M (2012) The Challenges Posed by Direct-to-Consumer Genetic Tests. www.phgfoundation. org/news/12372 (Last accessed: October 30 2013.) NHS Choices (2011) Muscular Dystrophy: Genetic Testing. www.nhs.uk/Conditions/ Muscular-dystrophy/Pages/ Prevention.aspx (Last accessed: October 30 2013.)
Henneman L, Timmermans DR, van der Wal G (2004) Public experiences, knowledge and expectations about medical genetics and the use of genetic information. Community Genetics. 7, 1, 33-43.
Nursing and Midwifery Council (2012) Consent. www.nmc-uk. org/Nurses-and-midwives/ Regulation-in-practice/ Regulation-in-Practice-Topics/ consent (Last accessed: October 30 2013.)
Hill M, Finning K, Martin P et al (2011) Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clinical Genetics. 80, 1, 68-75.
Reliable Accurate Prenatal non-Invasive Diagnosis (2013) NIPT for Fetal Sexing. www.rapid.nhs.uk/ patient-information/fetal-sexdetermination (Last accessed: October 30 2013.)
Royal College of Physicians, Royal College of Pathologists, British Society for Human Genetics (2011) Consent and Confidentiality in Clinical Genetic Practice: Guidance on Genetic Testing and Sharing Genetic Information. A Report of the Joint Committee on Medical Genetics. Second edition. Royal College of Physicians and Royal College of Pathologists, London. Skirton H, Jackson L, Goldsmith L, O’Connor A (2012) Genomic medicine: what are the challenges for the National Health Service? Personalized Medicine. 9, 5, 539-545. Telling Stories: Understanding Real Life Genetics (2011a) ‘He Happens to Have An Extra Chromosome – It Makes Him Extra Special.’ www.tellingstories.nhs.uk/ stories.asp?id=98 (Last accessed: October 30 2013.) Telling Stories: Understanding Real Life Genetics (2011b) Diane’s Story: The Need for Information and Support to Deal With A Diagnosis of Inherited Bowel Cancer. www. tellingstories.nhs.uk/stories. asp?id=2 (Last accessed: October 30 2013.)
©Downloaded NURSINGfrom STANDARD / RCN PUBLISHING november 13 :: vol 28 no 11 :: 2013 41 RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
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
Genetics: advocating for the rights of all individuals to informed decision making and voluntary action 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. Date of submission: December 21 2012; date of acceptance: May 7 2013.
Abstract This is the fourth article in a series describing how nurses can develop their confidence and competence in genetics and genomics health care. The focus of this article is the right of the individual to make an informed choice, to be supported to make that choice and to do so in a voluntary manner. Nurses are well placed to support patients who may be considering genetic testing and are often responsible for gaining their consent for such investigations. It is essential that they provide balanced information in a way that the patient can understand and are able to explain the different options and possible outcomes of genetic tests, while considering the wider implications this may have on the patient’s family.
Authors Lesley Goldsmith, research fellow and Heather Skirton, professor in health genetics, School of Nursing and Midwifery, Plymouth University, Plymouth. Correspondence to: [email protected]
THIS ARTICLE FOCUSES on competency 3 of the revised framework for genetics/genomics (Kirk et al 2013), which relates to nurses’ understanding of the rights of patients to make a fully informed decision when consenting to genetic or genomic tests (Box 1). Ensuring patients give informed consent to any procedure is a fundamental responsibility of every nurse. The Nursing and Midwifery Council (NMC) (2012) states that nurses and midwives have three overriding professional responsibilities with regard to obtaining consent: To make the care of people their first concern and ensure they gain consent before they begin any treatment or care. To ensure that the process of establishing consent is rigorous, transparent and
BOX 1 Competency 3
Keywords Consent, decision making, genetics, genomics, information provision
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.
Advocate for the rights of all individuals to informed decision making and voluntary action: Based on an awareness of the potential for misuse of human genetic/genomic information. Understanding the importance of delivering genetic/genomic education and counselling fairly, accurately and without coercion or personal bias. Recognising that personal values and beliefs of self and individual may influence the care and support provided during decision making, and that choices and actions may differ over time. (Kirk et al 2013)
©Downloaded NURSINGfrom STANDARD / RCN PUBLISHING november 13 :: vol 28 no 11 :: 2013 37 RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
Art & science competency standards: 3 demonstrates a clear level of professional accountability. To record accurately all discussions and decisions relating to obtaining consent. However, to fulfil these responsibilities nurses require an understanding of the process of informed consent and its constituent parts, namely provision of information, capacity of the patient and lack of coercion (NMC 2012). Nurses also need to be aware of the possible influence that personal values and beliefs, not only of the patient, but also of themselves, may have on the decision-making process.
Importance of this competency Nurses working in a range of settings are involved in supporting patients who are considering genetic testing, for example in cardiology, neurology, haematology, paediatrics, gynaecology and oncology, as well as in primary care. In these settings, nurses may have a role in providing patients with relevant information and obtaining their consent for testing. Rapid advances in the field of genetics and genomics in the past decade have direct implications for clinical care. For example, presymptomatic and diagnostic genetic tests are being offered to patients in specialties such as neurology (presymptomatic test for Huntington’s
BOX 2 Case study George was the first child of Helen and James. Until the age of three he appeared to be developing normally, but his parents then noticed he was having difficulty running and could not keep up with his peers. His family doctor examined him and referred him to a paediatrician. Duchenne muscular dystrophy was suspected and George had a blood sample taken for genetic testing. A deletion was found in the relevant gene and George did not require any further investigations to make the diagnosis.
BOX 3 Issues to be discussed during the consent process Knowledge of a family history of a condition or disease, or genetic test results, has potential benefit to other family members. Communication of certain aspects of information to family members may, therefore, be recommended. Possibility of unexpected or incidental findings from genetic testing and how these might be managed. Predictive nature of certain genetic tests. (Royal College of Physicians et al 2011)
disease) and oncology (test for mutations in the BRCA1 and BRCA2 genes). Genetic and genomic tests are in many cases replacing other investigations to enable a more rapid or reliable diagnosis of a condition. For example, a genetic test for relevant mutations may be used to diagnose cystic fibrosis in place of a sweat test, while a painful muscle biopsy may be replaced by a genetic test for patients suspected of having one of the many types of muscular dystrophy (NHS Choices 2011) (Box 2). Other technologies are being introduced that have relevance to nursing and midwifery care. One of these is non-invasive prenatal testing, involving analysis of cell-free fetal deoxyribonucleic acid present in maternal blood (Hill et al 2011). In the UK, non-invasive prenatal testing for sex determination is offered in pregnancies where the fetus is at risk of a condition specific to one sex (Reliable Accurate Prenatal non-Invasive Diagnosis 2013), while non-invasive prenatal testing for single gene disorders and Down syndrome is being developed and validated (Bianchi et al 2012). Another development in the field of health genomics that nurses should be aware of is direct-to-consumer testing. Tests can be ordered via the internet, by which an individual can obtain information about their susceptibility to common conditions such as coronary heart disease or diabetes. Some companies offer carrier testing, which involves a test to determine whether a person carries an altered copy of a gene for a recessive condition. The evidence base for many of the susceptibility tests is weak and they are not currently available through the NHS, but people may ask nurses for advice before or after buying such a test (Goldsmith et al 2012).
The nurse’s role Nurses are frequently responsible for obtaining informed consent for investigations. This involves providing information on the test being offered, answering any questions and explaining the possible implications of the test to the patient and the wider family. To comply with the Mental Capacity Act 2005, a nurse taking blood or other biological material for a genetic test needs to ensure that the patient has received appropriate information in an accessible format, and that the information and its implications have been fully understood. The nurse might also have a role in obtaining informed consent from the patient and recording this in the medical records.
38 november 13 :: vol 28 no 11 :: 2013 © NURSING STANDARD / RCN PUBLISHING Downloaded from RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
In situations where having a test may involve making a difficult decision following the result, it is important for the patient to be given balanced information, and for the various options to be explained. The patient must have the capacity to understand the information, and weigh up the risks and benefits of the procedure to which they are consenting. Evidence has shown inconsistency in the level of knowledge and experience of genetics among healthcare professionals and the public (Henneman et al 2004, Baars et al 2005), and it is possible therefore that consent may not always be valid. The importance of obtaining informed consent with regard to genetic and genomic testing is outlined by the Joint Committee on Medical Genetics (Royal College of Physicians et al 2011), and some of the issues to be discussed during the consent process are outlined in Box 3. In any healthcare context, nurses may be providing care for those who lack mental capacity, for example because of a learning disability. The aim of the Mental Capacity Act 2005 is to protect those who may be unable to give consent. When considering a person’s capacity to make a decision, there are two questions that the healthcare professional needs to ask: Does the person have an impairment of the mind or brain, or is there some sort of disturbance affecting the way his or her mind or brain works? If so, does that impairment or disturbance mean that the person is unable to make the decision in question at the time it needs to be made? Before deciding that a person does not have capacity to give consent to a health intervention, the nurse should ensure that all relevant information has been provided, and that this information has been communicated in a way that the person will understand (Box 4).
Benefits to patients and patient and/or family care When the decision to have a genetic test is made, it is not only the patient who has to be considered, but the fact that the results could have implications for the wider family. It is important, therefore, that any decision and the potential effects on other family members are considered carefully. This is particularly relevant when considering reproductive decisions, and patients need to be comfortable with the values that are involved in these decisions. In a clinical situation
such as offering presymptomatic or prenatal testing, patients need to be given balanced information that is free from the clinician’s prejudice, and given time to make what could be a life-changing decision about whether or not to have such a test. Information provision is an essential part of shared decision making (Department of Health (DH) 2010), and it is good practice to offer written information, such as a leaflet or post-consultation summary letter, to enable patients to consider the information in their own time. The importance of offering appropriate information and supporting patients to make decisions is illustrated in the following two real-life examples. Marianne describes the time when her son was given a genetic test soon after birth and subsequently diagnosed with a life-limiting chromosomal condition, Edwards’ syndrome (trisomy 18) (Box 5). She was not given information
BOX 4 Case study Mike, aged 23, has learning disabilities and has been diagnosed with type 1 diabetes. It is proving difficult to control his diabetes with insulin, and the diabetes specialist nurse suggests that he might have maturity onset diabetes of the young (MODY), which is caused by a genetic mutation. The treatment for MODY is dependent on the specific mutation involved, but in most cases insulin therapy can be discontinued. This could be investigated using a genetic test based on a blood sample. The diabetes specialist nurse explains the test verbally, but also gives Mike written information about the test. This is specially prepared and is written in simple language with accompanying photographs and images. It includes the reason for the test, what it involves and risks that might arise from either having or not having the test. It is made clear to Mike that he can accept or decline the test. One week later, the nurse sees Mike to discuss the test again. He has decided he will have the genetic test. She asks him to explain his reasons for wanting the test, and he replies that it might help to find the reason for his diabetes and help the doctor find the best treatment for him. Because Mike demonstrates he has the capacity to understand the test and its implications, the nurse takes a blood sample. The result indicates that Mike has a mutation that causes MODY, he is able to cease taking insulin and his diabetes is subsequently well controlled with tablets.
BOX 5 Marianne’s story ‘I didn’t see him until the next day and then I was told that they were checking for chromosomal abnormalities and that they were sending off for FISH, which we had no idea what that, sort of, meant at the time, so that was that.’ ‘Yeah, we were basically told that James had an extra 18th chromosome which was trisomy 18 but Edwards’ syndrome is the name of the doctor who found it, and it was completely unusual, you know. We had no idea what this meant.’ (Telling Stories: Understanding Real Life Genetics 2011a)
©Downloaded NURSINGfrom STANDARD / RCN PUBLISHING november 13 :: vol 28 no 11 :: 2013 39 RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
Art & science competency standards: 3 in a form that she was able to understand: patients may not understand such technical terms as FISH, for example. Information needs to be tailored to the needs of the individual. Marianne was, therefore, unable to make an informed choice. She was also not given detailed information about the chromosomal abnormalities that were being tested for. Edward’s syndrome is a condition that causes severe physical and mental abnormalities. Diane underwent colectomy for familial adenomatous polyposis, an inherited condition that predisposes the patient to multiple polyps and colon cancer. Colectomy is usually performed in a patient with this condition, either to treat colon cancer, if the condition was previously unknown in the family, or as a preventive measure. Diane explained how the nursing staff involved in her care appeared to have little knowledge of the reason for her surgery, or the genetics involved (Box 6).
Achieving this competency People with or at risk of genetic conditions have expressed the view that healthcare professionals working outside genetic services need to have a greater awareness of genetics and be willing to refer appropriately (Kroese 2012). Nurses working outside specialist genetic roles, therefore, need to
BOX 6 Diane’s story ‘My consultant has neither the time or shows any interest or knowledge of the disease therefore I do not receive any support/advice from him. None of the nurses during my times in hospital asked me for the reason I need a colectomy and I am often met with blank stares when I try to explain my medical history.’ Diane is worried about the implications of her own condition for her daughter. She is anxious that when her daughter is of an age and level of understanding to be able to make an informed decision, she is provided with the relevant information. This story demonstrates that every individual has the right to make his or her own informed decision. For this to be possible, healthcare professionals also need to be fully informed of the facts. (Telling Stories: Understanding Real Life Genetics 2011b)
BOX 7 Factors contributing to informed consent Disclosure of information. Voluntariness (freedom from coercion). Competence and/or capacity. (Appelbaum et al 1987)
be aware of current developments in genetics and genomics, and the range of tests that may either be offered to patients in an NHS setting or available to them direct-to-consumer (Skirton et al 2012). They need to be familiar with the requirements of the Mental Capacity Act (2005): Code of Practice (Department for Constitutional Affairs 2007), with particular regard to informed consent, the process to be followed and the principles involved (DH 2009) (Box 7). In recent years, there has been a move away from the paternalistic model of decision making in which the healthcare professional made the decisions, to a shared decision-making model in which information is shared and discussed with the patient (Elwyn et al 2000). This should mean that healthcare professionals will become aware of any values or cultural beliefs that may affect a patient’s decision, and provide appropriate support. Each situation will be different, but it is important for nurses to understand that genetic testing may have implications for the wider family, and that patients may have different requirements in terms of information provision and understanding. Information should be tailored to the individual and provided in a non-judgemental way. A nurse must also be capable of judging whether or not a person has the capacity to make the decision to have a genetic test, and to seek advice if there is any doubt about capacity. Assessing a patient’s understanding is sometimes challenging and it is often helpful, in the case of someone with a learning disability for example, to confirm that the patient has understood the information by asking them to repeat it. Nurses also need to be aware that factors such as anxiety may affect a patient’s decision-making processes (Graugaard and Finset 2000), and that capacity may fluctuate in conditions such as dementia. If the person is assessed as not having capacity to give consent, then a decision to give treatment based on the belief that this is in the best interests of the patient will normally have to be made. This always requires consultation with the patient and others who know the person well. Consent to genetic testing in children is a specific issue for consideration. Further information on this as well as other aspects of genetics and genomics is provided in Box 8.
Conclusion With genetics and genomics increasingly being integrated into general health care,
40 november 13 :: vol 28 no 11 :: 2013 © NURSING STANDARD / RCN PUBLISHING Downloaded from RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
it is important that nurses are familiar with the general principles and the types of tests that are relevant to their specialty. In addition, knowledge of a patient’s right to make a fully informed decision and to receive non-directive counselling as part of this process is essential NS 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.
BOX 8 Further information on consent, and aspects of genetics and genomics Consent and Confidentiality in Clinical Genetic Practice: Guidance on Genetic Testing and Sharing Genetic Information: www.bsgm.org.uk/ media/678746/consent_and_confidentiality_2011.pdf Genetics/Genomics in Nursing and Midwifery: Task and Finish Group Report to the Nursing and Midwifery Professional Advisory Board: www.gov.uk/government/uploads/system/uploads/attachment_data/ file/215250/dh_131947.pdf Mental Capacity Act 2005: Code of Practice: www.justice.gov.uk/ downloads/protecting-the-vulnerable/mca/mca-code-practice-0509.pdf Report on the Genetic Testing of Children 2010: www.ethox.org.uk/ Documents%20and%20images/GTOC_2010_BSHG.pdf (Last accessed: October 30 2013)
References Appelbaum P, Lidz C, Meisel A (1987) Informed Consent: Legal Theory and Clinical Practice. Oxford University Press, Fair Lawn, NJ. Baars MJ, Henneman L, Ten Kate LP (2005) Deficiency of knowledge of genetics and genetic tests among general practitioners, gynecologists, and pediatricians: a global problem. Genetics in Medicine. 7, 9, 605-610. Bianchi DW, Platt LD, Goldberg JD et al (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstetrics and Gynecology. 119, 5, 890-901. Department for Constitutional Affairs (2007) Mental Capacity Act 2005: Code of Practice. The Stationery Office, London. Department of Health (2009) Reference Guide to Consent for Examination or Treatment. Second edition. tinyurl.com/of7acma (Last accessed: October 30 2013.) Department of Health (2010) Equity and Excellence: Liberating the NHS. The Stationery Office, London. Elwyn G, Edwards A, Kinnersley P, Grol R (2000) Shared decision
making and the concept of equipoise: the competences of involving patients in healthcare choices. British Journal of General Practice. 50, 460, 892-899. Goldsmith L, Jackson L, O’Connor A, Skirton H (2012) Direct-to-consumer genomic testing: systematic review of the literature on user perspectives. European Journal of Human Genetics. 20, 8, 811-816. Graugaard PK, Finset A (2000) Trait anxiety and reactions to patient-centered and doctor-centered styles of communication: an experimental study. Psychosomatic Medicine. 62, 1, 33-39.
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. Kroese M (2012) The Challenges Posed by Direct-to-Consumer Genetic Tests. www.phgfoundation. org/news/12372 (Last accessed: October 30 2013.) NHS Choices (2011) Muscular Dystrophy: Genetic Testing. www.nhs.uk/Conditions/ Muscular-dystrophy/Pages/ Prevention.aspx (Last accessed: October 30 2013.)
Henneman L, Timmermans DR, van der Wal G (2004) Public experiences, knowledge and expectations about medical genetics and the use of genetic information. Community Genetics. 7, 1, 33-43.
Nursing and Midwifery Council (2012) Consent. www.nmc-uk. org/Nurses-and-midwives/ Regulation-in-practice/ Regulation-in-Practice-Topics/ consent (Last accessed: October 30 2013.)
Hill M, Finning K, Martin P et al (2011) Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clinical Genetics. 80, 1, 68-75.
Reliable Accurate Prenatal non-Invasive Diagnosis (2013) NIPT for Fetal Sexing. www.rapid.nhs.uk/ patient-information/fetal-sexdetermination (Last accessed: October 30 2013.)
Royal College of Physicians, Royal College of Pathologists, British Society for Human Genetics (2011) Consent and Confidentiality in Clinical Genetic Practice: Guidance on Genetic Testing and Sharing Genetic Information. A Report of the Joint Committee on Medical Genetics. Second edition. Royal College of Physicians and Royal College of Pathologists, London. Skirton H, Jackson L, Goldsmith L, O’Connor A (2012) Genomic medicine: what are the challenges for the National Health Service? Personalized Medicine. 9, 5, 539-545. Telling Stories: Understanding Real Life Genetics (2011a) ‘He Happens to Have An Extra Chromosome – It Makes Him Extra Special.’ www.tellingstories.nhs.uk/ stories.asp?id=98 (Last accessed: October 30 2013.) Telling Stories: Understanding Real Life Genetics (2011b) Diane’s Story: The Need for Information and Support to Deal With A Diagnosis of Inherited Bowel Cancer. www. tellingstories.nhs.uk/stories. asp?id=2 (Last accessed: October 30 2013.)
©Downloaded NURSINGfrom STANDARD / RCN PUBLISHING november 13 :: vol 28 no 11 :: 2013 41 RCNi.com by ${individualUser.displayName} on Dec 09, 2015. For personal use only. No other uses without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
