- The nursing profession is a pivotal provider of quality health care services and is essential to closing the gap between research discoveries that are efficacious to health care and their successful adoption to optimize health.
In order for people to benefit from widespread genetic/genomic discoveries, nurses must be competent to obtain comprehensive family histories, identify family members at risk for developing a genomic influenced condition and for genomic influenced drug reactions, help people make informed decisions about and understand the results of their genetic/genomic tests and therapies, and refer at-risk people to appropriate health care professionals and agencies for specialized care.
The top ten leading causes of mortality in the United States in 2005 () [4
] all have a genetic and/or genomic component with heart disease, cancer, cerebrovascular disease, and diabetes representing the vast majority of mortalities. Due to the chronic nature of these conditions and the management needed, nurses are intimately involved in the ongoing treatment and management of these conditions.
Every year, over 106,000 people in the U.S. will die from adverse effects from medications prescribed and administered in correct dosages, and over two million will suffer serious but not life threatening toxicities[5
]. Advanced practice nurses prescribe and all nurses regardless of their level of preparation dispense medications as well as provide education, monitor persons using medications, and are often the first line of defense to initiate actions to prevent adverse drug effects.
Among individuals 65 years of age or older, 17.3% of adverse drug event emergency department visits were associated with warfarin (Coumadin), the majority of which were dose-related with 44.2% requiring hospitalization [6
]. Individual genetic markers are among the factors that contribute to the determination of warfarin (Coumadin) dose requirements [7
]. Translating information about the genetic markers into the clinical arena, where warfarin (Coumadin) dosing and maintenance monitoring have a strong nursing component [8
], can reduce the incidence of life threatening hemorrhage or sub-therapeutic dosing that can result in thrombosis (clot forming in the body such as lungs and brain) as a consequence of individual responses regulated by genetic makeup.
Despite a burgeoning body of evidence regarding the contribution of genetics and genomics to health or illness, the evidence specific to outcomes of genomically competent nursing practice and the impact on the public’s health is extremely limited—if not entirely absent. Yet, individual anecdotes point to the remarkable potential for transforming health care by the genomically competent nurse.
- Nurses knowledgeable about genetics/genomics and skilled at obtaining and assessing risk in a family history have the potential to help people avert adult onset disorders and consequential morbidity and mortality.
More than 180,000 new cases of breast cancer are diagnosed annually of which approximately 5–10% will have an inherited susceptibility to the disease [10
]. As part of new patient multidisciplinary consultation, a nurse case manager took a brief family pedigree of a woman to identify any information consistent with an inherited susceptibility to cancer. The nurse identified a paternal family history of early onset breast cancer and her ethnic heritage, Ashkenazi Jewish, both of which influenced her risk of having a mutation (change in a gene) in a breast cancer susceptibility gene. The nurse referred this woman to a cancer genetic specialist. The woman called the nurse case manager to tell her that she was tested for mutations in BRCA1
and was found to have one of the common Ashkenazi Jewish founder mutations. She proceeded to have her ovaries removed to reduce her risk of ovarian cancer and learned that the pathology showed pre-cancerous cells. Did this genetically competent nurse save this woman from a future diagnosis of ovarian cancer? Almost certainly, the answer is yes. The evidence points to not only a reduction in morbidity and potential mortality by substantially reducing her risk of ovarian cancer, but also to a health care savings of hundreds of dollars per life year [11
] as a consequence of the nurse’s actions.
Annually, approximately 180,000 to 250,000 individuals in the United States will suffer a sudden cardiac death [12
]. Nurses knowledgeable in genetics/genomics can help people avert sudden cardiac death. A cardiovascular advanced practice nurse (APN) performed a cardiac echocardiogram on a patient who told the story about several family members who had died suddenly from a heart attack. Intrigued, the APN obtained a family history and shared it with one of the cardiologists. Over several years, the APN collected an extensive multiple generation family history that included members located in many states and several countries and found that many had died in their teens and early adult years. The family participated in a research study and eventually the gene and disease specific mutation were identified [13
]. A woman from the family described the benefits of undergoing genetic testing as a guest speaker at a genetic nursing conference. When the woman discovered that she did have the family gene mutation associated with sudden cardiac death she scheduled her first appointment with a cardiologist. Over an 8 year period, she had an implantable cardioverter defibrillator (ICD) placed which cardioverted her on two separate occasions and then she had two ablation surgeries for atrial fibrillation (irregular heart beats which can be life-threatening). At the conference, she was pregnant with her first child. She explained that her pregnancy was possible because of the APN’s genetic knowledge and close monitoring, education of other health care professionals involved in the woman’s prenatal care, and her guidance and support throughout the pregnancy. In this family, the APN had averted the premature death of many at risk family members by listening to and further investigating a family history over ten years.
- In preconception and prenatal settings, nurses have an opportunity to help families prepare for a child with a genetic condition.
Congenital malformations are the leading cause of infant death in the United States [14
]. Recently, a 48 year old woman recalled her experiences with the birth and eventual death of her two children with different chromosome disorders. She contrasted her tumultuous experience with her first baby to her dramatically better experience 10 years later with her second baby. When the woman was 30 years old she received a call at work from the obstetrician’s office that her genetic screen was abnormal. A follow up amniocentesis revealed that her developing baby had trisomy 18 (Edwards syndrome). Suffering from years of emotional guilt after terminating a pregnancy when she was young, the woman elected to continue her pregnancy. When her daughter was born, the mother felt very little support from the nurses and physicians. She described them as task oriented and very clinical. When she was discharged home with her baby the mother felt abandoned by the health care system; her only contact with health care professionals being her baby’s pediatrician, who had never cared for a child with trisomy 18 during his 20 years of practice. Ten years later, the woman became pregnant with her “miracle child.” Because of her age and history of having a previous child with a chromosome disorder, the woman elected to have an amniocentesis for reassurance. Unfortunately, the results revealed she was pregnant with a male fetus who had trisomy 13 (Patau syndrome). In contrast to her previous experience, she was referred to a pediatric hospice service. The woman was reassured by the nurses’ and physicians’ knowledge about trisomy 13 and the expected clinical course. The nurse made sure all labor and delivery and postnatal staff were knowledgeable about trisomy 13 and aware of the expected birth as well as the plan for comfort care. The nurse maintained contact with the woman during the pregnancy and provided hospice care during the woman’s son’s 12 week lifespan.