Faculty Publications

To our knowledge, no comprehensive, interdisciplinary initiatives have been taken to examine the role of genetic variants on patient-reported qualityof-life outcomes. The overall objective of this paper is to describe the establishment of an international and interdisciplinary consortium, the GENEQOL Consortium, which intends to investigate the genetic disposition of patient-reported quality-of-life outcomes. We have identified five primary patient-reported quality-of-life outcomes as initial targets: negative psychological affect, positive psychological affect, self-rated physical health, pain, and fatigue. The first tangible objective of the GENEQOL Consortium is to develop a list of potential biological pathways, genes and genetic variants involved in these quality-of-life outcomes, by reviewing current genetic knowledge. The second objective is to design a research agenda to investigate and validate those genes and genetic variants of patient-reported quality-of-life outcomes, by creating large datasets. During its first meeting, the Consortium has discussed draft summary documents addressing these questions for each patient-reported quality-of-life outcome. A summary of the primary pathways and robust findings of the genetic variants involved is presented here. The research agenda outlines possible research objectives and approaches to examine these and new quality-of-life domains. Intriguing questions arising from this endeavor are discussed. Insight into the genetic versus environmental components of patient-reported quality-of-life outcomes will ultimately allow us to explore new pathways for improving patient care. If we can identify patients who are susceptible to poor quality of life, we will be able to better target specific clinical interventions to enhance their quality of life and treatment outcomes.

BACKGROUND: As familial cancer genetic services moves into community practice increased numbers of trained health professionals are needed to counsel individuals seeking cancer risk information. Nurses have been targeted to provide cancer risk assessment and counseling. To help prepare nurses for this role, a 5-day training in familial cancer risk assessment and counseling followed by a long-distance mentorship to support continued skill development in the work environment was conducted by Fox Chase Cancer Center, Philadelphia, PA. METHODS: Four cohorts (N = 41) have completed the training and were randomized to either an immediate or delayed mentorship. A formative evaluation assessed the nurse's ability to consult with other genetic health professionals and build self-efficacy in counseling skills via responses to questionnaire. A post-mentorship interview evaluated the usefulness, timing and length of the mentorship. RESULTS: For both groups, there was a statistically significant improvement in self-efficacy for all skills from baseline to 6 months and an increased number of nurses consulting with genetic health professionals. All the nurses reported the value of the mentorship and those with less cancer risk counseling experience prior to the training needed support and resources for further skill and program development. Lessons learned from this formative evaluation are provided.

PURPOSE/OBJECTIVES: To examine how neutropenia affects quality of life (QOL) and explore strategies to assess neutropenia-related QOL in clinical practice. DATA SOURCES: Published articles, abstracts, conference proceedings, and clinical practice guidelines. DATA SYNTHESIS: Neutropenia can have a detrimental effect on the QOL of patients receiving chemotherapy. A neutropenia-related QOL questionnaire can help nurses better identify patients at risk for developing neutropenia and monitor patients who already have it. In some cases, the questionnaire may be the first step in the initiation of interventions to improve patient care. Ideally, the QOL questionnaire should be easy to use, provide clinically meaningful information, and be easily adapted from existing QOL measurement tools. CONCLUSIONS: Effective implementation of QOL assessments into clinical practice can lead to the initiation of interventions that may improve neutropenia-related QOL in patients with cancer receiving chemotherapy. IMPLICATIONS FOR NURSING: Nurses can enhance their clinical judgment and affect patient treatment by implementing a questionnaire that assesses patients' neutropenia-related QOL.

PURPOSE: Individuals and families dealing with the possibility of hereditary cancer risk face numerous decisions, including whether to obtain genetic testing. The purpose of this article is to determine what is known about the rate at which people obtain cancer genetic testing. METHODS: Using MEDLINE, CINAHL, and PSYCHINFO plus reviewing reference lists of relevant articles, we identified 40 studies in May 2002 that addressed breast cancer-related decisions, enrolled adult participants, were published in 1990 or more recently, were peer-reviewed primary clinical studies, addressed genetic testing either alone or in combination with genetic counseling, and reported rates at which participants showed interest in and/or underwent cancer genetic testing. Information regarding study design, participants, and genetic testing uptake rates was recorded. Each article was reviewed for methodologic quality using a flexible quality review system applicable to all study types. RESULTS: Of the 40 studies, 25 provided information about hypothetical genetic testing decisions, 14 about real decisions, and 1 about both. Mean hypothetical uptake was 66% (range, 20-96%) and real uptake was 59% (range, 25-96%). Multivariate logistic regression analyses found that decision type (real/hypothetical), personal and family history of breast cancer, and variability in sampling strategy, recruitment setting, and criteria for real and hypothetical uptake were independently associated with uptake. Our systematic review identified additional explanations for uptake variability (investigator influences, small sample sizes, variability in target populations, lack of clearly described sampling strategies, sampling methods open to bias, and variability in reporting associated risk factors). CONCLUSION: In addition to clinical characteristics, research methodologic issues are likely to be major determinants of variability in published breast cancer genetic testing uptake rates. An understanding of these issues will clarify to clinicians why their clinical experience may not be congruent with published rates and help guide future research. (Cancer Epidemiol Biomarkers Prev 2006;15(5):840-55).

PURPOSE/OBJECTIVES: To introduce nurses to the concept of evidence-based risk models and their use in practice. DATA SOURCES: Poster presentations at meetings and published articles and books. DATA SYNTHESIS: Evidence-based risk models can be used in many clinical situations to identify patients at higher risk for a particular disease or clinical outcome, such as adverse events. These models may be based on molecular, epidemiologic, clinical, or family information obtained from patients. Risk models also may provide information about the cost-effectiveness of prevention, treatment, or support strategies for specific patients. CONCLUSIONS: Determining the risks of disease- or therapy-related adverse events can help healthcare providers and patients. Risk assessment to identify patients who are most likely to benefit from supportive care can lead to the cost-effective use of these supportive care measures and improved clinical outcomes. IMPLICATIONS FOR NURSING: Through awareness of relevant evidence-based risk models, nurses can become more effective in actively managing their patients care. Because of their close and ongoing contact with patients with cancer, oncology nurses are in an ideal position to assess risk factors for adverse events and to use appropriate supportive care for those patients who are at greatest risk. AD - Division of Population Science, Fox Chase Cancer Center, Philadelphia, PA, USA. mary.ropka@fccc.edu