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
Identifying individuals who might benefit from genetic services and information Jacobs C, Patch C (2013) Identifying individuals who might benefit from genetic services and information. Nursing Standard. 28, 9, 37-42. Date of submission: January 7 2013; date of acceptance: May 21 2013.
Abstract This is the second in a series of articles on genetics. This article focuses on competency 1 of the revised framework for genetics/genomics for nurses. The authors discuss the importance of nurses identifying individuals who may benefit from genetic services. Recording a family history and drawing a family tree are useful skills that will help to identify these individuals and inform the healthcare team. The article explains when to refer individuals to genetic services and what they may expect from these referrals.
Authors Chris Jacobs Consultant genetic counsellor in cancer, Guy’s and St Thomas’ NHS Foundation Trust, London. Christine Patch Genetics and genetic counsellor manager, Guy’s and St Thomas’ NHS Foundation Trust, London. Correspondence to: [email protected]
Keywords Comprehensive nursing assessment, family history, genetics, genomics, hereditary conditions
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.
CompetenCy 1 of the revised framework for genetics/genomics for nurse education forms a crucial component of a comprehensive and systematic nursing assessment that takes account of genetic factors (Kirk et al 2013) (Box 1). this is in accordance with the nursing and midwifery Council’s (2010) Standards for Pre-Registration Nursing Education which states that: ‘All nurses must carry out comprehensive, systematic nursing assessments that take account of relevant physical, social, cultural, psychological, spiritual, genetic and environmental factors, in partnership with service users and others through interaction, observation and measurement.’
BOX 1 Competency 1 Identify individuals who might benefit from genetic services and/or information through a comprehensive nursing assessment: That recognises the importance of family history in assessing predisposition to disease. Recognising the key indicators of a potential genetic condition. Taking appropriate and timely action to seek assistance from, and refer individuals to, genetic specialists, other specialists and peer support resources. Based on an understanding of the care pathways that incorporate genetic services and information. (Kirk et al 2013)
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Art & science competency standards: 1 Importance of this competency early identification of individuals with, or at risk of, hereditary disease can make a difference to patients and families in terms of accessing genetic services, early detection and risk-reducing measures. Several clinical guidelines recommend undertaking family history assessment in the clinical setting (British Cardiac Society et al 2005, national Institute for Health and Care excellence (nICe) 2013). Because healthcare resources are limited, it is important to identify patients for whom these services will be the most beneficial and to reassure those for whom referral is not necessary. Identifying individuals who may benefit from genetic services is the responsibility of all healthcare professionals (Human Genomics Strategy Group
BOX 2 Joy’s story Joy was diagnosed and successfully treated for thyroid cancer. No one asked her about her family history. Some years later her cousins were referred to genetic services because of a family history of breast cancer. This led to identification of a mutation in the breast and ovarian cancer gene, BRCA2. Joy was found to have inherited the mutation. She now knows that she is at increased risk of developing breast and ovarian cancer, and that extra screening and risk-reducing surgery are available for her. She says: ‘Treat it as a positive thing rather than a negative because having the BRCA2 altered gene is not a death sentence in itself. Treat it as a positive because then you’re attending counselling sessions, you’re attending follow-ups with professionals who can help you and so having all this extra testing is a bonus.’ (Telling Stories: Understanding Real Life Genetics 2010a)
BOX 3 Claire’s story Claire went to see the practice nurse for her smear and blood pressure check, and mentioned that she was stopping her contraceptive pill because she was planning to become pregnant. She asked for general advice and explained that her mother’s brother had died when he was a teenager and had been in a wheelchair. The practice nurse had recently been to a study day on preconception care and knew this might be significant. She rang the clinical genetics department and asked if Claire should be referred. Eighteen months later she saw Claire waiting for an antenatal check. Claire told her that, as a result of the referral, she had been found to be a carrier of the gene for Duchenne muscular dystrophy. This is an abnormal congenital condition characterised by progressive wasting of the leg and pelvic muscles. It affects males, and females can carry the gene. Claire and her partner had considered carefully whether they could take the risk of having a child, whether they could test during pregnancy and end a pregnancy if the baby was affected, or whether or not they wanted an in-vitro fertilisation pregnancy with a pre-implantation genetic diagnosis. Claire got pregnant naturally, had a test at 11 weeks and learned that the baby was a girl. Claire said that, although the situation had been difficult, she was glad to have been given the opportunity to make informed choices.
2012). nurses form the largest group of the nHS workforce and are ‘central to the public’s health, through health promotion and prevention or amelioration of ill-health through screening programmes, early detection, targeted treatment and individualised care’ (Kirk et al 2011). It is therefore essential that nurses are able to recognise potentially significant genetic information, enable referral to genetic services and explain the rationale for this in a meaningful way.
Benefits to patients and patient and/or family care Depending on the genetic condition, identifying individuals and families at risk may enable access to early detection and risk reduction, reduce the possibility of passing the condition to future generations, and alter the management of the individual with the genetic condition. Identifying individuals who may benefit from early detection and risk reduction is important in many areas of medicine. Recognising individuals or families who may be at risk of conditions such as arrythmogenic right ventricular cardiomyopathy, familial hypercholesterolaemia and sickle cell anaemia can lead to early detection through surveillance and risk reduction via medication and lifestyle changes. the importance of identifying patients at risk of cancer is demonstrated in the case study described in Box 2. While all women in the UK have access to the nHS Breast Screening programme from the age of 50, women assessed to be at moderate and high risk of breast cancer due to their family history are eligible for breast screening from 40, and those at very high risk due to a genetic predisposition are offered breast surveillance from 30 (nICe 2013). these women may opt for risk-reducing surgery, such as a bilateral mastectomy or salpingo-oophorectomy. Recognising when offspring may be at risk of a genetic condition, such as cystic fibrosis, Duchenne muscular dystrophy or Huntington’s disease, can help couples to make choices about prenatal testing and pre-implantation genetic diagnosis. these procedures increase the possibility of a healthy baby and reduce the risk of passing the mutation to future generations (Box 3). It is important that healthcare professionals who manage women before and during pregnancy are aware of how to identify who may benefit from genetic services, how to access these services and the time frames for undertaking these procedures to maximise the benefits to individuals. Identifying when a condition may be hereditary can make a difference to the management of the
38 october 30 ::from vol RCNi.com 28 no 9 :: by 2013 NURSING STANDARD / RCN Downloaded ${individualUser.displayName} on Nov 18, 2015.©For personal use only. No other usesPUBLISHING without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
affected individual. for example, recognising the signs of developmental delay and making an early referral for appropriate investigations can help with management, education and support needs for the child and family (Barr and mcConkey 2006). for nurses working in oncology settings, awareness of a cancer family history is important in the routine cancer clinic (Dudley-Brown and freivogel 2009) and in the paediatric setting where those diagnosed with very rare cancers may be treated (parsons 2011) (Box 4). Identifying women at risk of hereditary breast cancer at diagnosis may provide information about the risk of future cancers that will help them to make decisions about whether or not to opt for more radical surgery, such as a double mastectomy at diagnosis (pal and Vadaparampil 2012). Clinical trials suggest that identification of a breast cancer-predisposing gene mutation may enable treatment with targeted chemotherapy (fong et al 2009, Audeh et al 2010). Identifying family members at risk of familial hypercholesterolaemia (Robinson 2013) or maturity onset diabetes of the young leads to different treatment and prevents complications, improving morbidity and mortality (Shields et al 2010). yet many individuals who might benefit from genetics services are not referred. this may be because they are not made aware of the possibility of referral (Bernhardt et al 2005). In addition, individuals who are unaware of their risk may not access screening that could detect inherited conditions early. Reassuring those who are not at increased risk of a genetic condition can help to allay their anxiety. However, while there is evidence that individuals are in general reassured by a moderate or low-risk assessment (Sivell et al 2007, Hilgart et al 2012), they may not feel reassured if the healthcare professional making the risk estimate appears to lack knowledge (Hall et al 2007). It is therefore important that nurses and other healthcare professionals understand the principles of genetic risk assessment so that they can give clear and consistent messages and enable individuals to feel confident in the assessment (Grande et al 2002).
would benefit from genetics referral in primary and secondary care (Brennan et al 2007, eeles et al 2007, Jacobs et al 2007). these projects and the services that have resulted from them, such as the breast cancer risk assessment service in south east London (Harris and Lötter 2012), demonstrate the nurse’s role in meeting this competency by collecting family history information, drawing a family tree, recognising and documenting potentially significant information, and triaging patients to genetics referral, screening or reassurance. Competencies and support and education have been developed for nurses who undertake cancer risk assessment in their clinical roles to identify patients who would benefit from referral to genetics services (Bennett et al 2007). the importance of the role of cardiovascular and primary care nurses in raising awareness and managing familial hypercholesterolemia has been highlighted (Ross 2013). nurses working in other areas, such as cardiac care (Hall et al 2007), gastroenterology (Dudley-Brown 2004, Dudley-Brown and freivogel 2009) and breast cancer (Grimsey et al 2010) also have a role in identifying patients who may benefit from genetic services.
BOX 4 David’s story David and his brother had regular scans in the 1970s but did not know why. Several years later they were told that there was a rare cancer syndrome in the family called von Hippel-Lindau syndrome. Eventually the gene was identified, the family mutation was known and David’s children were tested. They both had the gene. David says ‘At that point I got up, walked out of the room and sobbed my heart out in the kitchen because of what I’d given the kids. That was a very hard point, that was terrible, from that point on it was regular scans. It was hard to get my son to go, he was 12/13, he didn’t want to be at the hospital, he wanted to be out playing with his mates. He didn’t want to go for tests and scans, and then he started work and still didn’t want to go. Eventually when he could see members of my family dying of kidney failure and a cousin going blind because of this disease, he then realised that, yeah, perhaps he ought to start attending and going for all the tests.’ (Telling Stories: Understanding Real Life Genetics 2010b)
BOX 5 Nursing roles required to meet competency 1
The nurse’s role the revised genetics/genomics competency framework (Kirk et al 2013) outlined the nursing roles required to meet the first competency (Box 5). following publication of a Department of Health (2003) white paper, several pilot projects were set up to establish new models for identifying individuals with a family history of cancer who
Collect information as part of a comprehensive nursing assessment and use the information to draw a family tree using standard symbols. Recognise and document potentially significant genetic/genomic information from a family history. Apply knowledge of local and regional referral pathways to explain to patients the services that are available. Ensure referral to genetic services and other agencies where appropriate. (Kirk et al 2013)
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Art & science competency standards: 1 Achieving this competency talking about family history can be a positive experience as individuals feel that they are being listened to (pfeffer et al 2003). for others, however, talking about family history can be emotionally distressing, particularly if family members are seriously ill or have died or if relationships are difficult. At the outset it is helpful to introduce the purpose of taking a family history and to explain what information is required. for example, the nurse may say: ‘Can I ask you about your family’s history of cancer? this helps us to gain a better understanding of the implications of this for you. It would be helpful if you can tell me some details about who in your family has had cancer, what type of cancer they had, what ages they were when they were diagnosed, how they are related to you, and whether the cancer is on your mother’s or father’s side of the family.’ for a patient with a family history of learning difficulties, for example, the nurse may ask who in the family has learning difficulties, how these individuals are related to the patient and which side of the family they are on, how they are affected, whether they went to mainstream school and whether there is a family history of stillbirths or miscarriages. It is important to be sensitive to potential problems and to allow time to deal with any issues that may arise. Some individuals may feel reluctant to share information about family members, and it is important to reassure them that information will be confidential and privacy will be maintained. family history information should not be shared with other family members without the consent of each individual concerned. Identifying individuals at risk inevitably involves asking about the medical history of other members
FIGURE 1 Drawing a family tree
When compiling a family tree the circles represent females and the squares represent males. The filled-in symbols represent an individual affected by an inherited condition. It is important that the condition being represented is clearly identified.
of the family and may also involve identifying other relatives who are at risk. Genetic counselling undertaken by healthcare professionals specialising in clinical genetics involves families as well as individuals (American Society of Human Genetics 1975, Rantanen et al 2008). this is different to most areas of nursing where the focus is on the individual. family relationships can be complicated and it is important to make sure that the individual understands that the information being sought relates to his or her biological or ‘blood’ relatives. explaining the purpose of taking the family history and the type of information that is required, and asking clear and sensitive questions will help the individual to know what is expected of him or her and help him or her to feel confident in the process (Skirton and patch 2009). Ideally, the family history should cover at least three generations and document all relatives on the maternal and paternal sides of the family. A systematic approach to family history taking by asking similar questions about the health of each family member can be helpful in informing the healthcare team and in promoting better care for the patient. Drawing a family tree (or pedigree) is a helpful way of recording family history and is clearer than documenting a list of relatives and conditions (Harper 2010). A family tree (such as the one shown in figure 1) enables medical information and family relationships to be recorded quickly and clearly, and enables other healthcare professionals to understand the family situation at a glance. many individuals may be familiar with the concept of a family tree and some may already have researched their family history. there are standard symbols for drawing a family tree and for documenting relationships and family events, such as half siblings, adoptions and miscarriages. Learning how to take an accurate family history and to draw a family tree are useful skills for nurses to acquire and, once learned, can save time in the future when documenting family history. the first competency requires nurses to identify individuals who may benefit from genetic diagnosis, seek advice and, where appropriate, refer them to genetic services. It is therefore important for nurses to be aware of when referral to genetic services should be considered (Box 6) and the pathway into referral to the local regional genetic service. Informing an individual that a referral may be required can be alarming and care should be taken not to raise anxiety. It may not be helpful, for example, to talk to individuals about gene mutations or genetic testing, because this is the role of specialist service providers and not everyone who is referred to a genetic service will be offered a genetic test. the
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nurse could say, for example: ‘I would like to refer you to the genetic service for a full assessment of your family history. they will talk to you about what this might mean for you and your family.’ If an appointment is made, the genetic service will generally provide more information about what to expect. Some services may routinely offer an appointment, but most will send a family history questionnaire or suggest referral to a family history clinic in the first instance. nurses can help individuals to prepare for the appointment by advising them to find out information about dates of birth, dates of diagnosis, places of treatment and dates of death of relatives, and to take along any further information, such as medical letters or death certificates. It could be useful to suggest that individuals look at the website for the genetic service they are being referred to, where they may be able to download copies of family history forms and leaflets to help them to prepare for the appointment.
Further information It is important that nurses and other healthcare professionals ensure they have the knowledge
BOX 6 When to consider a genetic referral Genetic referral should be considered in families where one or more relatives has a history of the following conditions: Multiple closely related individuals with the same condition, particularly if the condition is rare. Disorders which occur at an earlier age than usual (especially if onset is early in two or more family members). For example: – Breast cancer
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
Identifying individuals who might benefit from genetic services and information Jacobs C, Patch C (2013) Identifying individuals who might benefit from genetic services and information. Nursing Standard. 28, 9, 37-42. Date of submission: January 7 2013; date of acceptance: May 21 2013.
Abstract This is the second in a series of articles on genetics. This article focuses on competency 1 of the revised framework for genetics/genomics for nurses. The authors discuss the importance of nurses identifying individuals who may benefit from genetic services. Recording a family history and drawing a family tree are useful skills that will help to identify these individuals and inform the healthcare team. The article explains when to refer individuals to genetic services and what they may expect from these referrals.
Authors Chris Jacobs Consultant genetic counsellor in cancer, Guy’s and St Thomas’ NHS Foundation Trust, London. Christine Patch Genetics and genetic counsellor manager, Guy’s and St Thomas’ NHS Foundation Trust, London. Correspondence to: [email protected]
Keywords Comprehensive nursing assessment, family history, genetics, genomics, hereditary conditions
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.
CompetenCy 1 of the revised framework for genetics/genomics for nurse education forms a crucial component of a comprehensive and systematic nursing assessment that takes account of genetic factors (Kirk et al 2013) (Box 1). this is in accordance with the nursing and midwifery Council’s (2010) Standards for Pre-Registration Nursing Education which states that: ‘All nurses must carry out comprehensive, systematic nursing assessments that take account of relevant physical, social, cultural, psychological, spiritual, genetic and environmental factors, in partnership with service users and others through interaction, observation and measurement.’
BOX 1 Competency 1 Identify individuals who might benefit from genetic services and/or information through a comprehensive nursing assessment: That recognises the importance of family history in assessing predisposition to disease. Recognising the key indicators of a potential genetic condition. Taking appropriate and timely action to seek assistance from, and refer individuals to, genetic specialists, other specialists and peer support resources. Based on an understanding of the care pathways that incorporate genetic services and information. (Kirk et al 2013)
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Art & science competency standards: 1 Importance of this competency early identification of individuals with, or at risk of, hereditary disease can make a difference to patients and families in terms of accessing genetic services, early detection and risk-reducing measures. Several clinical guidelines recommend undertaking family history assessment in the clinical setting (British Cardiac Society et al 2005, national Institute for Health and Care excellence (nICe) 2013). Because healthcare resources are limited, it is important to identify patients for whom these services will be the most beneficial and to reassure those for whom referral is not necessary. Identifying individuals who may benefit from genetic services is the responsibility of all healthcare professionals (Human Genomics Strategy Group
BOX 2 Joy’s story Joy was diagnosed and successfully treated for thyroid cancer. No one asked her about her family history. Some years later her cousins were referred to genetic services because of a family history of breast cancer. This led to identification of a mutation in the breast and ovarian cancer gene, BRCA2. Joy was found to have inherited the mutation. She now knows that she is at increased risk of developing breast and ovarian cancer, and that extra screening and risk-reducing surgery are available for her. She says: ‘Treat it as a positive thing rather than a negative because having the BRCA2 altered gene is not a death sentence in itself. Treat it as a positive because then you’re attending counselling sessions, you’re attending follow-ups with professionals who can help you and so having all this extra testing is a bonus.’ (Telling Stories: Understanding Real Life Genetics 2010a)
BOX 3 Claire’s story Claire went to see the practice nurse for her smear and blood pressure check, and mentioned that she was stopping her contraceptive pill because she was planning to become pregnant. She asked for general advice and explained that her mother’s brother had died when he was a teenager and had been in a wheelchair. The practice nurse had recently been to a study day on preconception care and knew this might be significant. She rang the clinical genetics department and asked if Claire should be referred. Eighteen months later she saw Claire waiting for an antenatal check. Claire told her that, as a result of the referral, she had been found to be a carrier of the gene for Duchenne muscular dystrophy. This is an abnormal congenital condition characterised by progressive wasting of the leg and pelvic muscles. It affects males, and females can carry the gene. Claire and her partner had considered carefully whether they could take the risk of having a child, whether they could test during pregnancy and end a pregnancy if the baby was affected, or whether or not they wanted an in-vitro fertilisation pregnancy with a pre-implantation genetic diagnosis. Claire got pregnant naturally, had a test at 11 weeks and learned that the baby was a girl. Claire said that, although the situation had been difficult, she was glad to have been given the opportunity to make informed choices.
2012). nurses form the largest group of the nHS workforce and are ‘central to the public’s health, through health promotion and prevention or amelioration of ill-health through screening programmes, early detection, targeted treatment and individualised care’ (Kirk et al 2011). It is therefore essential that nurses are able to recognise potentially significant genetic information, enable referral to genetic services and explain the rationale for this in a meaningful way.
Benefits to patients and patient and/or family care Depending on the genetic condition, identifying individuals and families at risk may enable access to early detection and risk reduction, reduce the possibility of passing the condition to future generations, and alter the management of the individual with the genetic condition. Identifying individuals who may benefit from early detection and risk reduction is important in many areas of medicine. Recognising individuals or families who may be at risk of conditions such as arrythmogenic right ventricular cardiomyopathy, familial hypercholesterolaemia and sickle cell anaemia can lead to early detection through surveillance and risk reduction via medication and lifestyle changes. the importance of identifying patients at risk of cancer is demonstrated in the case study described in Box 2. While all women in the UK have access to the nHS Breast Screening programme from the age of 50, women assessed to be at moderate and high risk of breast cancer due to their family history are eligible for breast screening from 40, and those at very high risk due to a genetic predisposition are offered breast surveillance from 30 (nICe 2013). these women may opt for risk-reducing surgery, such as a bilateral mastectomy or salpingo-oophorectomy. Recognising when offspring may be at risk of a genetic condition, such as cystic fibrosis, Duchenne muscular dystrophy or Huntington’s disease, can help couples to make choices about prenatal testing and pre-implantation genetic diagnosis. these procedures increase the possibility of a healthy baby and reduce the risk of passing the mutation to future generations (Box 3). It is important that healthcare professionals who manage women before and during pregnancy are aware of how to identify who may benefit from genetic services, how to access these services and the time frames for undertaking these procedures to maximise the benefits to individuals. Identifying when a condition may be hereditary can make a difference to the management of the
38 october 30 ::from vol RCNi.com 28 no 9 :: by 2013 NURSING STANDARD / RCN Downloaded ${individualUser.displayName} on Nov 18, 2015.©For personal use only. No other usesPUBLISHING without permission. Copyright © 2015 RCNi Ltd. All rights reserved.
affected individual. for example, recognising the signs of developmental delay and making an early referral for appropriate investigations can help with management, education and support needs for the child and family (Barr and mcConkey 2006). for nurses working in oncology settings, awareness of a cancer family history is important in the routine cancer clinic (Dudley-Brown and freivogel 2009) and in the paediatric setting where those diagnosed with very rare cancers may be treated (parsons 2011) (Box 4). Identifying women at risk of hereditary breast cancer at diagnosis may provide information about the risk of future cancers that will help them to make decisions about whether or not to opt for more radical surgery, such as a double mastectomy at diagnosis (pal and Vadaparampil 2012). Clinical trials suggest that identification of a breast cancer-predisposing gene mutation may enable treatment with targeted chemotherapy (fong et al 2009, Audeh et al 2010). Identifying family members at risk of familial hypercholesterolaemia (Robinson 2013) or maturity onset diabetes of the young leads to different treatment and prevents complications, improving morbidity and mortality (Shields et al 2010). yet many individuals who might benefit from genetics services are not referred. this may be because they are not made aware of the possibility of referral (Bernhardt et al 2005). In addition, individuals who are unaware of their risk may not access screening that could detect inherited conditions early. Reassuring those who are not at increased risk of a genetic condition can help to allay their anxiety. However, while there is evidence that individuals are in general reassured by a moderate or low-risk assessment (Sivell et al 2007, Hilgart et al 2012), they may not feel reassured if the healthcare professional making the risk estimate appears to lack knowledge (Hall et al 2007). It is therefore important that nurses and other healthcare professionals understand the principles of genetic risk assessment so that they can give clear and consistent messages and enable individuals to feel confident in the assessment (Grande et al 2002).
would benefit from genetics referral in primary and secondary care (Brennan et al 2007, eeles et al 2007, Jacobs et al 2007). these projects and the services that have resulted from them, such as the breast cancer risk assessment service in south east London (Harris and Lötter 2012), demonstrate the nurse’s role in meeting this competency by collecting family history information, drawing a family tree, recognising and documenting potentially significant information, and triaging patients to genetics referral, screening or reassurance. Competencies and support and education have been developed for nurses who undertake cancer risk assessment in their clinical roles to identify patients who would benefit from referral to genetics services (Bennett et al 2007). the importance of the role of cardiovascular and primary care nurses in raising awareness and managing familial hypercholesterolemia has been highlighted (Ross 2013). nurses working in other areas, such as cardiac care (Hall et al 2007), gastroenterology (Dudley-Brown 2004, Dudley-Brown and freivogel 2009) and breast cancer (Grimsey et al 2010) also have a role in identifying patients who may benefit from genetic services.
BOX 4 David’s story David and his brother had regular scans in the 1970s but did not know why. Several years later they were told that there was a rare cancer syndrome in the family called von Hippel-Lindau syndrome. Eventually the gene was identified, the family mutation was known and David’s children were tested. They both had the gene. David says ‘At that point I got up, walked out of the room and sobbed my heart out in the kitchen because of what I’d given the kids. That was a very hard point, that was terrible, from that point on it was regular scans. It was hard to get my son to go, he was 12/13, he didn’t want to be at the hospital, he wanted to be out playing with his mates. He didn’t want to go for tests and scans, and then he started work and still didn’t want to go. Eventually when he could see members of my family dying of kidney failure and a cousin going blind because of this disease, he then realised that, yeah, perhaps he ought to start attending and going for all the tests.’ (Telling Stories: Understanding Real Life Genetics 2010b)
BOX 5 Nursing roles required to meet competency 1
The nurse’s role the revised genetics/genomics competency framework (Kirk et al 2013) outlined the nursing roles required to meet the first competency (Box 5). following publication of a Department of Health (2003) white paper, several pilot projects were set up to establish new models for identifying individuals with a family history of cancer who
Collect information as part of a comprehensive nursing assessment and use the information to draw a family tree using standard symbols. Recognise and document potentially significant genetic/genomic information from a family history. Apply knowledge of local and regional referral pathways to explain to patients the services that are available. Ensure referral to genetic services and other agencies where appropriate. (Kirk et al 2013)
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Art & science competency standards: 1 Achieving this competency talking about family history can be a positive experience as individuals feel that they are being listened to (pfeffer et al 2003). for others, however, talking about family history can be emotionally distressing, particularly if family members are seriously ill or have died or if relationships are difficult. At the outset it is helpful to introduce the purpose of taking a family history and to explain what information is required. for example, the nurse may say: ‘Can I ask you about your family’s history of cancer? this helps us to gain a better understanding of the implications of this for you. It would be helpful if you can tell me some details about who in your family has had cancer, what type of cancer they had, what ages they were when they were diagnosed, how they are related to you, and whether the cancer is on your mother’s or father’s side of the family.’ for a patient with a family history of learning difficulties, for example, the nurse may ask who in the family has learning difficulties, how these individuals are related to the patient and which side of the family they are on, how they are affected, whether they went to mainstream school and whether there is a family history of stillbirths or miscarriages. It is important to be sensitive to potential problems and to allow time to deal with any issues that may arise. Some individuals may feel reluctant to share information about family members, and it is important to reassure them that information will be confidential and privacy will be maintained. family history information should not be shared with other family members without the consent of each individual concerned. Identifying individuals at risk inevitably involves asking about the medical history of other members
FIGURE 1 Drawing a family tree
When compiling a family tree the circles represent females and the squares represent males. The filled-in symbols represent an individual affected by an inherited condition. It is important that the condition being represented is clearly identified.
of the family and may also involve identifying other relatives who are at risk. Genetic counselling undertaken by healthcare professionals specialising in clinical genetics involves families as well as individuals (American Society of Human Genetics 1975, Rantanen et al 2008). this is different to most areas of nursing where the focus is on the individual. family relationships can be complicated and it is important to make sure that the individual understands that the information being sought relates to his or her biological or ‘blood’ relatives. explaining the purpose of taking the family history and the type of information that is required, and asking clear and sensitive questions will help the individual to know what is expected of him or her and help him or her to feel confident in the process (Skirton and patch 2009). Ideally, the family history should cover at least three generations and document all relatives on the maternal and paternal sides of the family. A systematic approach to family history taking by asking similar questions about the health of each family member can be helpful in informing the healthcare team and in promoting better care for the patient. Drawing a family tree (or pedigree) is a helpful way of recording family history and is clearer than documenting a list of relatives and conditions (Harper 2010). A family tree (such as the one shown in figure 1) enables medical information and family relationships to be recorded quickly and clearly, and enables other healthcare professionals to understand the family situation at a glance. many individuals may be familiar with the concept of a family tree and some may already have researched their family history. there are standard symbols for drawing a family tree and for documenting relationships and family events, such as half siblings, adoptions and miscarriages. Learning how to take an accurate family history and to draw a family tree are useful skills for nurses to acquire and, once learned, can save time in the future when documenting family history. the first competency requires nurses to identify individuals who may benefit from genetic diagnosis, seek advice and, where appropriate, refer them to genetic services. It is therefore important for nurses to be aware of when referral to genetic services should be considered (Box 6) and the pathway into referral to the local regional genetic service. Informing an individual that a referral may be required can be alarming and care should be taken not to raise anxiety. It may not be helpful, for example, to talk to individuals about gene mutations or genetic testing, because this is the role of specialist service providers and not everyone who is referred to a genetic service will be offered a genetic test. the
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nurse could say, for example: ‘I would like to refer you to the genetic service for a full assessment of your family history. they will talk to you about what this might mean for you and your family.’ If an appointment is made, the genetic service will generally provide more information about what to expect. Some services may routinely offer an appointment, but most will send a family history questionnaire or suggest referral to a family history clinic in the first instance. nurses can help individuals to prepare for the appointment by advising them to find out information about dates of birth, dates of diagnosis, places of treatment and dates of death of relatives, and to take along any further information, such as medical letters or death certificates. It could be useful to suggest that individuals look at the website for the genetic service they are being referred to, where they may be able to download copies of family history forms and leaflets to help them to prepare for the appointment.
Further information It is important that nurses and other healthcare professionals ensure they have the knowledge
BOX 6 When to consider a genetic referral Genetic referral should be considered in families where one or more relatives has a history of the following conditions: Multiple closely related individuals with the same condition, particularly if the condition is rare. Disorders which occur at an earlier age than usual (especially if onset is early in two or more family members). For example: – Breast cancer
