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September/October 2002 ⅐ Vol. 4 ⅐ No. 5 meeting report End-of-life issues in genetic disorders: Summary of workshop held at the National Institutes of Health on September 26, 2001 Ann R. Knebel, RN, DNSc, FAAN, and Carole Hudgings, PhD, RN, FAAN OVERVIEW AND OBJECTIVES found that Americans are dissatisfied with the care they receive at the end of life. Research, care, and community involvement The workshop brought together researchers, clinicians, and were subjects of criticism in the report. This is an important people who are living with genetic disorders to discuss issues area for research and the issue, as it pertains to those with related to end of life in genetic diseases. Specifically, the partic- genetic disorders, is currently understudied. ipants evaluated whether end-of-life issues in people with ge- netic disorders are different from these issues in other popula- tions. The participants then identified directions for research THE TRAJECTORIES about this important topic. As an operating framework, the discussions were organized around four trajectories of dying as The end-of-life movement has roots in the hospice move- depicted in Figure 1: sudden death, terminal illness, organ sys- ment with cancer patients. However, there is a growing real- tem failure, and frailty.1 The workshop was co-sponsored by ization that the manner in which cancer patients die may differ the National Institute of Nursing Research (NINR), the Office from the way others die. Dr. June Lunney, formerly with the of Rare Diseases, and the National Human Genome Research RAND Center to Improve Care of the Dying and now a post- Institute (NHGRI). doctoral fellow with NINR and the National Institute on Ag- ing, discussed four functional trajectories of dying that were evaluated through a retrospective study of Medicare beneficia- WORKSHOP FORMAT ries between 1993 and 1998.1 The data from a random sample Dr. Patricia A. Grady, the director of NINR, provided open- of beneficiaries were analyzed. In the sudden death trajectory, ing remarks that summarized the work NIH and NINR have decedents were older and primarily male, with this group hav- sponsored to develop the science of end of life. To focus the ing a slightly higher representation of people from ethnic mi- discussions on the end-of-life trajectories, Dr. June Lunney nority backgrounds. The vast majority of people in this trajec- provided an overview of these trajectories. Experts then pre- tory died outside of the hospital. Most of the decedents in the sented information about specific genetic disorders that might terminal illness trajectory were cancer patients. This group was illustrate each trajectory. After each presentation, two panel slightly younger; almost half received hospice care, and they members commented about the presentations and whether the had the highest physician bills. The group with organ systems trajectories were a useful approach to conceptualizing end of failure included those who had had an inpatient hospitaliza- life in people with genetic disorders. The workgroup members tion or an emergency room visit in the last year of life. The then discussed the utility of the end-of-life trajectories. After discharge diagnoses for this group were primarily congestive the discussions, the nominal group technique was used to gen- heart failure or chronic obstructive pulmonary disease. The erate questions for future research as outlined in Table 1. frailty group included mostly older females who had condi- tions such as dementia, stroke, pneumonia, and leg cellulitis. INTRODUCTION PRESENTATIONS AND PANEL RESPONSES This workshop represents an evolution of NINR’s involve- ment with end-of-life research since 1997 when the pivotal Sudden death trajectory report, “Approaching Death: Improving Care at the End of Genetic cardiac diseases were chosen to represent this tra- Life,” was released by the Institute of Medicine.2 That report jectory. Dr. Clair Francomano, Section Chief of the Human Genetics and Integrative Medicine Section of the National In- From the National Institute of Nursing Research at the National Institutes of Health, stitute on Aging, presented information on patients with these Bethesda, MD. types of conditions. Approximately 72 cardiac diseases are clas- Ann R. Knebel, RN, DNSc, FAAN, 31 Center Drive, MSC 2178, Building 31, Room 5B10, sified as genetic; they include Marfan syndrome, long QT syn- Bethesda, MD 20892-2178. drome, and Ehlers-Danlos syndrome.3 Both Ehlers-Danlos Received: April 4, 2002. syndrome and Marfan syndrome have autosomal dominant Accepted: June 7, 2002. inheritance, but the manifestations of these disorders vary. The DOI: 10.1097/01.GIM.0000031565.77652.AB cardiac manifestations of Ehlers-Danlos syndrome are mild Genetics IN Medicine 373 Knebel and Hudgings Terminal illness trajectory Hereditary cancer syndromes were chosen to exemplify the terminal illness trajectory. Barbara Bowles Biesecker, Associate Investigator, Director, Genetic Counseling Graduate Program, Johns Hopkins University/NHGRI, coordinated the presenta- tions on this trajectory. Hereditary cancers and cancer risk in- clude, among others: breast, colorectal, kidney, brain, and Mendelian disorders such as neurofibromatosis. The age of onset varies among these syndromes. For example, one type of inherited colon cancer, familial polyposis, has an early onset and can affect adolescents and another, hereditary nonpolypo- sis colorectal cancer, usually manifests later in adult life. Generally, genetic cancer deaths occur at a younger age than do deaths from cancer of nongenetic origin. Some of the issues associated with the terminal illness trajectory apply across all Fig. 1 The graphs depict four functional trajectories of dying identified in elderly peo- genetic diseases, including inheritance, guilt and anxiety about ple receiving Medicare benefits. Reprinted with permission from the Journal of the Amer- ican Geriatrics Society, Blackwell Publishing.1 passing on the gene mutation, and risks to close relatives, which may complicate the grieving process following death due to cancer. Families face the potential loss of a relative while and no specific treatment is necessary, whereas with Marfan others may also be at risk. Intergenerational care issues may syndrome complications are potentially lethal and anticipa- also arise. Dealing with these patients and the families in terms tory treatment can prolong life. With Marfan syndrome aortic of the genetic risk raises many issues such as how to give news dissection and/or rupture is a common cause of sudden death, of a gene mutation in the family in a constructive way. Death and clinically it is difficult if not impossible to judge who will may mean not only loss of a loved one but also a personal die suddenly and who will not. However, prospective routine increased risk for developing cancer. There may be a special echocardiography can identify those at highest risk.4 Many issue in genetic cancers, that is, shame due to the genetic stigma times the diagnosis of a genetic cardiac condition is not made of inherited cancer risk. Families may perceive themselves as until there has been at least one death in the family. flawed or “damaged goods,” and they may also worry about One of the issues associated with this trajectory is the idea of their vulnerability for losing insurance or even employment as foreknowledge. The majority of patients with genetic disorders a result of their risk.9 know they are at risk for a shortened lifespan. A person who has a It may not be possible to cleanly separate the trajectories. For familial arrhythmia like long QT syndrome knows death can example, a family member’s death may seem like “sudden come suddenly and unexpectedly and there may be no treatment death” even if there has been a terminal illness. Another genetic to prevent or allay such an outcome. The experience can be lik- disease that could fit into the category of a terminal illness is ened to “sitting atop a volcano.” Therefore, it is critical to help the Huntington disease. People with this disease may have a differ- patient keep on living, adhering to treatments and not despairing. ent view of end of life compared with patients with cancer. “Reasons for Living Inventories” that measure adaptive, life- Many patients with colon cancer view the condition as treat- maintaining characteristics can be useful in these situations.5–8 able and less threatening, whereas patients with Huntington Other issues faced at the end of life in genetic disorders are disease (which cannot be treated or prevented) come for test- remorse, fear, and guilt. Guilt about having passed on the dis- ing with great fear and view it as a life-changing event. Even in ease can affect the end-of-life decisions that parents make. a family with one single gene mutation, there can be one family There are also reproductive issues. Family members’ repro- member who has a trajectory very different from that of an- ductive decisions may be influenced by the sudden death of a other who is affected. End-of-life care in cancer is generally close relative. Patients with genetic disorders who manifest a based on the hospice model, whereas people with genetic can- sudden death trajectory are subject to depression that can fur- cers may require a different end-of-life approach. ther exacerbate the underlying condition. Often, medical in- terventions such as ␤-blockers and exercise restrictions cause greater depression, which can increase the risk of death in car- Organ system failure trajectory diac disease. To know death is imminent obviously increases Genetic pulmonary diseases were used to represent the or- the risk of depression. gan system failure trajectory. Dr. Ben Wilfond, Head of the There is not an exact match in terms of the trajectories for Bioethics Research Section, Medical Genetics Branch at the genetic diseases and nongenetic diseases if age is considered. NHGRI, presented data on pulmonary disease, specifically cys- The trajectories used to frame this discussion are based on an tic fibrosis (CF).

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