This article is offered as a guide for other nurses striving to include genetic and genomic nursing competencies in their clinical practice. A panel of nursing leaders from clinical, research, and academic settings met in 2004 to establish the minimum (essential) genetic and genomic competencies required for nurses to deliver competent care. The Essential Nursing Competencies, along with Curricular Guidelines for Genetics and Genomics, have now been endorsed by 49 nursing organizations in the United States, and are applicable to the practice of all registered nurses regardless of academic preparation, practice setting, role, or specialty (Consensus Panel, 2006; Jenkins & Calzone, 2007). The process of developing consensus in identifying and supporting nursing genetic and genomic competencies in the United States was patterned after methods used in the United Kingdom (UK). In the UK, support for genetic competencies for nurses has been widespread (Kirk, McDonald, Longleg, Anstey et al, 2003). This article will address both genetic-focused care, which is based on knowledge about individual genes and their impact on relatively rare, single-gene disorders, and also genomic-focused care, which considers the interactions of all the genes in the human genome and their interactions with the environment and other psychosocial and cultural factors (Guttmacher & Collins, 2002).

The article will describe how nurses who previously had not focused on genetic and genomic care realized this knowledge was needed to provide optimal care to their patients and evolved their practice to include essential nursing genetic and genomic competencies. It will describe the strategies used to gain the genetic and genomic competencies needed to care for hereditary hemorrhagic telangiectasia (HHT) patients, illustrate genetic and genomic competencies in practice, and delineate nursing’s contribution to the HHT team accomplishments. Future directions will also be discussed. This article is offered as a guide for other nurses striving to include genetic and genomic nursing competencies in their clinical practice.

Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder of the blood vessels which affects approximately 1 in 5,000 people.

Key findings for the clinical diagnosis of HHT are:

• family history: a first-degree relative in whom HHT has been diagnosed
• epistaxis: spontaneous and recurrent
• mucocutaneous telangiectases: small blanchable red spots at characteristic sites including lips, oral cavity, fingers, and nose
• visceral arteriovenous malformations (AVMs): most often pulmonary, cerebral, gastrointestinal, hepatic, spinal or retinal

The clinical diagnosis of HHT is considered definite when three or more of these key findings are present; possible or suspected when two findings are present; and unlikely when fewer than two findings are present (HHT, 2008a and 2008b; Guttmacher & McDonald, 2008; Bayrak-Toydemir, Mao, Lewin & McDonald, 2004). Genetic testing is also available to confirm a diagnosis of HHT (HHT, 2008a). If undetected and untreated the AVMs associated with HHT, especially in the lungs and brain, may lead to a life-threatening stroke or hemorrhage.

The HHT Foundation International, Inc. has identified the important, comprehensive services that nurses provide and has suggested that ideally a full-time, specialized nurse will work closely with other specialists to care for HHT patients (HHT, 2008b). The physician specializing in HHT treatment at our Medical Center (Mayo Clinic), and our Nursing Administration, recognized the value of a dedicated nurse to care for HHT patients and supported the inclusion of a dedicated nurse on the multidisciplinary team. Initially one registered nurse was identified to gain expertise in working with this specialty patient population. As the patient population increased, a second registered nurse joined the team to ensure that consistent coverage was available. The combined dedicated nursing hours to HHT patients is currently 10-15 hours per week with the potential for increased hours as patient volume grows. This dedicated nursing involvement is in alignment with national care standards for HHT patients.

Learning Strategies to Increase Genetic and Genomic Competencies

The inclusion of genetic and genomic components in nursing care for HHT patients at our Medical Center has evolved over time. Two HHT nurses began by learning about the genetic aspects of HHT from the physician expert on the team, online educational resources, and international conferences sponsored by the HHT Foundation International, Inc. These annual conferences address all aspects of care from both consumer and provider perspectives and include information on the genetic and genomic elements of the disorder. Networking at these conferences helped the HHT nurses identify strategies to enhance care. One such intervention was that of including a family pedigree in each patient’s treatment plan. Although staff registered nurses traditionally have not completed pedigrees in clinical settings, completing pedigrees is now a basic requirement in the genetic and genomic competencies (Consensus Panel, 2006; Olsen, Feetham, Jenkins, Lewis, Nissly, Sigmon & Thomson, 2005). As the HHT nurses increased their understanding of genetics and genomics, they better understood the importance of pedigree information and sought help from colleagues in the Medical Genetics Department in learning to draw pedigrees using standardized symbols and terminology.

...completing pedigrees is now a basic requirement in the genetic and genomic competencies.The HHT nurses also took advantage of the Medical Center’s innovative Nursing Genomics Program (Pestka & Brown, 2004), which is based on the premise that all nurses play a pivotal role in providing genetic and genomic care (Greco, 2005; Jenkins & Lea, 2004; Feethan, Thomson & Hinshaw, 2005; Dugas, 2005; Lea & Williams, 2002). Since 2001 this Program has offered frequent presentations related to genetics and genomics, including continuing nursing education offerings to staff nurses in both inpatient and outpatient settings throughout Mayo Clinic.

Nursing staff development faculty incorporated genomic case studies in its Practice Initiative Education sessions in 2006. The nursing process was used as a framework for incorporating genetic and genomic competencies into practice (Pestka, Meisheid & O'Neil, 2008). The intended outcome of these educational offerings was that nurses would be able to identify how genetic and genomic competencies translate into clinical patient care. When the HHT nurses attended this session, they readily shared with the staff development faculty how they were already including genetic and genomic competencies in the care they provided.

The HHT multidisciplinary team was then identified as an exemplary model for the provision of genetic and genomic care at the Medical Center. To educate others, the team made a five-minute video recording designed for multidisciplinary audiences illustrating how genetic/genomic-integrated care can be delivered. This video has been viewed by hundreds of local healthcare providers and featured in presentations at national and international multidisciplinary conferences. A conference poster display was also developed to illustrate the HHT multidisciplinary team approach. This poster has generated excellent discussion at conferences about the delivery of genetic and genomic team-based care.

Additionally, the HHT clinic nurses have provided preliminary genomic education, resources, and mentoring to staff nurses in all specialty clinics within the Division of Pulmonary and Critical Care Medicine, which includes the HHT Team. Staff nurses in this Division reached consensus that a genomic competency option would be part of their annual nursing skill evaluation for 2007. The competency was developed by leaders of the Medical Center’s Nursing Genomics Program and was made available to all groups of staff nurses within the institution. Competency was demonstrated by the staff nurses’ ability to identify at least two genomic-related nursing assessments and two nursing interventions they had performed with one of their patients in the last year. The patient case exemplars were reviewed by a nursing peer to determine whether they met the criteria identified for the competency. If a staff nurse was initially unable to meet the competency criteria, review of available educational resources, coaching, and follow-up at their annual performance review was indicated. All staff nurses within the Division of Pulmonary and Critical Care Medicine have successfully completed the genomic competency.

Illustration of Genetic and Genomic Competencies in Practice

The two nurses who work collaboratively as part of the HHT team demonstrate how nurses can actively incorporate the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics into their practice (Consensus Panel, 2006). See the Table (the left side of which was developed by the Consensus Panel) that lists professional responsibilities related to genetic and genomic care and describes the four professional practice domains, namely nursing assessment; identification; referral activities; and provision of education, care, and support. The table also identifies how the HHT nurses are demonstrating these elements in their practice. The following sections will illustrate how the HHT nurses assess a patient’s family history, identify related issues and needed resources, assist with the referral process, and provide education, care, and support.

Assessment

The pedigree is important because it clearly and concisely highlights inheritance patterns which assist in evaluation. Assessment of HHT patients begins when a patient seeking evaluation or treatment contacts the Medical Center. The team’s appointment coordinator gives preliminary information to the patient and then provides the team’s nurses with the individual’s name and contact information. A telephone interview is conducted by one of the HHT specialized nurses with the purpose of obtaining and documenting a detailed personal and family history. Interview questions are targeted to gather data that is specific and relevant to HHT. A family pedigree, using a commercially available computerized software program that allows rapid construction, editing, and retrieval of clinical information, is completed by one of the nurses during the patient telephone interview. The pedigree is important because it clearly and concisely highlights inheritance patterns which assist in evaluation. The HHT nurses collaborated with a data management/computer support specialist and colleagues in medical genetics to identify pertinent variables and to customize this computerized software program. The nurses introduce a genetic referral option and the possibility of genetic testing during the telephone interview to allow patients and family members time to consider and discuss this opportunity.

Identification of Issues and Needed Resources

After arrival at the Medical Center, each patient completes the scheduled screening tests specific to their identified symptoms and needs. The tests have been ordered based on an algorithm. The patient and one of the HHT nurses then have their initial appointment meeting. This scheduled time provides an opportunity for the nurse to update the electronic record and pedigree with any new family history information. The meeting allows time to respond to additional questions, which often have genetic and genomic implications. During these meetings the nurse offers education and reassurance that, despite there being no cure for HHT, there is treatment available for the disorder. This time also affords an opportunity to begin building a relationship between the HHT nurse and the patient and family, and to discuss how the nurse can best advocate for and support the patient and family members concerning ethical, legal, social, cultural and financial issues. The HHT nurses advocate to maximize insurance coverage for testing and treatment services.

Individualized Treatment

Each patient meets with the physician specializing in HHT treatment. The physician uses the screening test results, and information from the personal/family history and pedigree collected by the HHT nurses, to assist with making a diagnosis and constructing an individualized treatment or surveillance plan. Family history and pedigree data is often used to identify other members of the family who may be at risk for the disorder and in need of potentially life-saving evaluation and treatment. The patient and family may be referred to a genetic counselor. The genetic counselors rely on the family pedigrees completed by the HHT nurses as they provide their genetic counseling services.

Patients pursuing genetic testing or further analysis of their family history are referred to the Medical Genetics Department for evaluation. The genetic testing process for HHT is often confusing for families and patients because testing needs to be preceded by clinical confirmation of HHT. HHT nurses reinforce that only a patient with a clinical diagnosis of HHT is appropriate for initial testing which can determine the potential benefit for identifying affected family members. If a specific genetic mutation is identified in one family member, diagnosis of other family members who are at risk for the disease may be accomplished by the genetic blood test rather than a costly and time-consuming screening process which may involve a computerized tomography scan, magnetic resonance imaging, and/or a bubble echocardiogram (HHT, 2008a and 2008b).

Education, Care and Support

The HHT nurses have invested considerable effort in developing patient education materials specific to HHT as guided by the Genetic and Genomic Competencies described above. The HHT team met with staff from the Medical Center’s Division of Patient Education to develop a relevant and user-friendly booklet that includes information about disease signs and symptoms, inheritance patterns, AVMs, treatment options, and restrictions (Mayo Foundation, 2005). The HHT nurses are prepared to individualize the information for each patient situation and explain specific elements when a patient requests further details.

The website for the HHT Foundation International, Inc. <www.hht.org> is provided as an additional resource for information and support services. The Internet allows patients to learn about their health concerns and make more educated decisions about their care (Smith, 2005). The HHT Foundation International, Inc. provides this user-friendly website as a resource to persons wanting reliable information about the disorder and treatment options. This resource is especially important to persons with HHT as it is a relatively rare disorder. The HHT Foundation International, Inc. and its website are significant resources for both consumers and providers of HHT services. The HHT nurses are familiar with the website and prepared to respond to genetic and genomic questions and to provide additional resources to meet the needs of their patients.

Nursing Contributions to HHT Team Accomplishments

The HHT nurses have made several essential contributions to the care of HHT patients. These contributions include a comprehensive oversight of screening tests before physician evaluation, which helps to facilitate rapid identification and treatment of AVMs, along with the coordinating and individualizing of care. Each will be discussed in turn.

[Patients] share that they find comfort in knowing an entire team is working together to coordinate their care and to help identify other family members who are at risk for the disease. Having screening tests completed prior to physician evaluation facilitates efficient use of time and resources as noted in our Medical Center chart review. This review did identify three cases for which a nursing interview collecting personal and family history information did not occur far enough in advance of the physician consultation to schedule all necessary testing. These three patients experienced more delays in their care than other patients for whom the nurses had completed the telephone interview prior to their coming to the Medical Center.

The HHT nurses are also vigilant regarding AVMs. Because they recognize that AVMs can result in serious complications from this genetic disorder, they provide and reinforce patient education regarding identification and treatment of AVMs and also expedite scheduling of screening procedures. AVMs in the lungs may require immediate treatment by coil embolism. In this treatment a catheter inserted into the groin is guided to the AVM and a tiny coil is placed to seal off the AVM and block it from the body’s circulation. The catheter is then removed leaving the coil in place. Nurses at our Medical Center contributed to 17 of the 19 HHT patients who were identified as having an AVM requiring coil embolization being treated by the following day. The other two patients who, due to their specific situations, could not be treated immediately were successfully treated as soon as possible.

Patients consistently verbalize a high level of satisfaction with the individualized care provided by the team. They share that they find comfort in knowing an entire team is working together to coordinate their care and to help identify other family members who are at risk for the disease. The HHT nurses play an important role throughout the patient’s treatment by individualizing care. For example, patients are given a copy of the family pedigree developed by the HHT nurses at their initial visit; and patients report during follow-up appointments how helpful it was to share their individualized family pedigree with family members.

The physician leader of our HHT Team views nursing’s contribution as a significant factor both in our receiving Center of Excellence recognition and also in expanding the volume of patient visits. Prior to seeking designation as an HHT Center of Excellence, the physician leader of the team visited another Center to gather information about this recognition process. One of the key messages of the Center visit was the value of having specialized nurses for the care of HHT patients. The physician leader of our HHT Team views nursing’s contribution as a significant factor both in our receiving Center of Excellence recognition and in expanding the number of patient visits. The number of patients receiving services at this treatment Medical Center has increased significantly over the past five years. In 2003 eleven new patients were seen and by 2007 over sixty new patients sought HHT specialized care at this Center. This increase can be clearly seen in the Figure (developed by the authors) that illustrates the number of annual new patient visits for the past five years.

Future Directions

Pedigrees are valuable tools in determining the care needed for each patient and the patient’s family members (Pestka, 2003; Spahis, 2002). In an effort to enhance the level of care provided at the institutional level, the team is currently investigating ways in which patient and family data contained in the pedigree can be scanned into the patient’s electronic medical record making it possible to share this information with all departments involved in their care. A customizable data bank can be helpful in facilitating data abstraction for clinical and research purposes. With oversight from the Institutional Review Board, information from the databank may be used to identify important information and trends for treating persons with HHT, thereby assisting the team in its endeavors to make future contributions to the care of these patients and to the body of knowledge of this disease.

Summary

This article has described how HHT nurses at this Medical Center are incorporating genetic and genomic-competency elements into their care. The nurses obtained knowledge and skills related to genetics and genomics through self-directed, independent-learning activities, participation in international conferences, and attendance at genomics staff development sessions. The HHT nurses are knowledgeable and skilled at gathering and assessing family history information and constructing family pedigrees, discussing environmental factors and physical symptoms, and identifying patients’ knowledge about HHT. They use this assessment information to plan appropriate interventions for their patients. They are sensitive to ethical, legal, social, and cultural needs and concerns; and they assist with referral to other providers as needed. They also provide education, care, and support for their patients. Maximizing responsibilities of the nurses as team members enhances the efficiency and quality of the care provided. Nursing activities have contributed to the efficiency, safety, and innovation of the multidisciplinary team. It is our desire that the strategies described in this article will assist others to strive to include genetic and genomic nursing competencies in their nursing practice.

Figure. Number of New Annual Patient Visits

Adapted from Jenkins and Calzone, 2005.

Acknowledgements: The authors wish to acknowledge the following team members for their contributions to this multidisciplinary team approach to care: Deborah DeGeus, Aaron Bungum, and especially Dr. Karen Swanson.

Authors

Laura M. Junglen, BSN, RN
E-mail: Junglen.Laura@mayo.edu

Ms. Junglen has a BSN degree in nursing from the University of Minnesota. She is a member of the Mayo Clinic Nursing Genomics Interest Group. As a member of a workgroup that provides care to patients with a relatively rare genetic disease, she has been instrumental in developing and implementing the nursing role to include the Essential Nursing Genomic Competencies. She participated in creating a video which has been presented at national and international nursing conferences showcasing how genetic/genomic information is utilized within the workgroup. She has also co-authored and presented locally and nationally an educational poster which highlights how genomic initiatives improve patient and family outcomes.

Elizabeth L. Pestka, MS, APRN, BC, APNG
E-mail: Pestka.Elizabeth@mayo.edu

Ms. Pestka has BS degrees in education and nursing, a MS degree in nursing, and holds the rank of Assistant Professor of Nursing, College of Medicine, Mayo Clinic. She is certified as an Advanced Practice Nurse in Adult Psychiatric and Mental Health Nursing as well as credentialed as an Advanced Practice Nurse in Genetics. She has been a co-leader of the Magnet prize winning Nursing Genomics Program ( a recognition specific to genomics) at Mayo Clinic since 2001. In this role she has provided genetics/genomics education to nurses throughout the Medical Center and has been promoting use of genetic and genomic assessments and interventions in nursing practice. She has numerous publications related to genomics in peer-reviewed journals; and as a recognized leader in genetics/genomics nursing, she has been invited to present and consult nationally and internationally.

Mary Lou Clawson, RN
E-mail: mclawson@mayo.edu

Ms. Clawson received an Associate Degree in nursing from Regents College. She has a personal interest in genetic and genomic issues. As the initial nurse member of the HHT workgroup, she played an integral part in designing the nursing role of the practice. She initiated the use of pedigrees in the practice through collaboration with colleagues at both international conferences and within the Mayo Clinic Medical Genetics Department. She participated in creating a video that has been presented at national and international nursing conferences showcasing how genetic/genomic information is utilized within the workgroup. She co-authored and has presented locally and nationally an educational poster that highlights how genomic initiatives improve patient and family outcomes.

Susan D. Fisher, RN
E-mail: Fisher.Susan@mayo.edu

Ms. Fisher has an Associate Degree in Nursing. She has worked in the ambulatory Pulmonary and Critical Care practice at the Mayo Clinic for the past eight years. She has been involved in working with different physician practices as they consult with patients concerning their pulmonary genetic diseases. She has enabled nursing to serve as a key team member as the plan of care is decided with the patient. She offers a strong patient support system to various patient populations.