Marcia Van Riper

Knowledge, attitudes and education of pharmacists regarding pharmacogenetic testing

AIM Pharmacists are positioned to provide medication counseling and drug information to patients. This study assessed the knowledge, attitudes and education of over 700 pharmacists concerning pharmacogenetics and pharmacogenetic testing. METHODS A multiquestion, online survey was developed to assess healthcare provider knowledge, attitudes and education concerning pharmacogenetic testing. RESULTS More than 90% of pharmacists were interested in learning more about pharmacogenetics and testing, with those with less than 10 years of experience were more likely to want web-based continuing education programs. The pharmacists were unlikely to have had formalized education regarding pharmacogenetics, were very likely to rate their knowledge accurately, and were more likely to have a positive attitude about pharmacogenetics if they had received education regarding pharmacogenetics. CONCLUSION Most pharmacists were interested in learning more about pharmacogenetic testing.

Genetic Testing and the Family

The family experience of genetic testing is explored in this article. Two family stories are presented to illustrate how families define and manage the ethical and social issues that emerge during 2 types of genetic testing: mutation analysis for Huntingtons disease and genetic testing for breast and ovarian cancer susceptibility. These 2 families were purposefully selected because their stories exemplify the complexity of the genetic testing experience. In addition, the story of the family living with Huntingtons disease shows how negative consequences can occur for the individual tested, other family members, the marital relationship, and the family system, even when the test results indicate that the individual does not carry a deleterious gene mutation. Both of the families presented in this article participated in an ongoing study, Family Experience of Genetic Testing: Ethical Dimensions, in which 118 family members from 67 families have participated. The guiding framework for this research was the family management style framework developed and refined by Knafl and colleagues.

Determining nursing faculty development needs

Although faculty members often come to a university school of nursing with little or no experience in teaching, research, or other forms of scholarship, few schools of nursing have a comprehensive, formalized faculty development program. In considering the need to find and retain the best faculty in this competitive market, the University of North Carolina at Chapel Hill School of Nursing appointed a task force to develop a formal faculty development program for the School. After reviewing the literature and contacting 24 schools of nursing, the task force concluded that most do not offer a systematic approach to faculty development. The task force developed and distributed a needs assessment and received responses from 53% of the faculty. Based on the needs assessment the task force made eight recommendations to the faculty for an ongoing, comprehensive faculty development program.

Looking for Trouble: Preventive Genomic Sequencing in the General Population and the Role of Patient Choice

Advances in genomics have led to calls for developing population-based preventive genomic sequencing (PGS) programs with the goal of identifying genetic health risks in adults without known risk factors. One critical issue for minimizing the harms and maximizing the benefits of PGS is determining the kind and degree of control individuals should have over the generation, use, and handling of their genomic information. In this article we examine whether PGS programs should offer individuals the opportunity to selectively opt out of the sequencing or analysis of specific genomic conditions (the menu approach) or whether PGS should be implemented using an all-or-nothing panel approach. We conclude that any responsible scale-up of PGS will require a menu approach that may seem impractical to some, but that draws its justification from a rich mix of normative, legal, and practical considerations.

Decision Making Following a Prenatal Diagnosis of Down Syndrome: An Integrative Review

INTRODUCTION Prenatal screening for Down syndrome (DS) is a routine part of prenatal care in many countries, and there is growing interest in the choices women make following a prenatal diagnosis of DS. This review describes what is known about actual and hypothetical decision making following a prenatal diagnosis of DS and adds understanding about the factors that influence womens decision making. METHODS A search of empirical studies was conducted through electronic databases, major journals, and reference lists that were published in English between January 1999 and September 2010. Inclusion criteria were that the research explored attitudes toward continuation of pregnancy or induced abortion for DS and included at least 1 variable that explored factors influencing womens decision making following a prenatal diagnosis of DS. Studies that did not specify DS, unpublished manuscripts, review articles, and book chapters were excluded. RESULTS A total of 11 studies were identified that met the inclusion criteria. The decision to undergo an induced abortion varied depending on whether participants were prospective parents recruited from the general population (23%-33% would terminate), pregnant women at increased risk for having a child with DS (46%-86% would terminate), or women who received a positive diagnosis of DS during the prenatal period (89%-97% terminated). Multiple factors influence womens decision making following a diagnosis of DS, including demographic factors such as religion, maternal age, gestational age, number of existing children, and history of induced abortion. Psychosocial factors including perceived parenting burden/reward, quality of life for a child with DS, attitudes toward and comfort with individuals with disabilities, and support from others also are important influences. DISCUSSION Multiple factors influence the decisions pregnant women make following the diagnosis of fetal DS. Therefore, it is critical that health care providers who work with pregnant women are aware of these factors.

Research on Caregiving in Chinese Families Living With Mental Illness: A Critical Review

Much of the existing research on caregiving in families of individuals with mental illness has been conducted in Western societies. Therefore, the purpose of this review was to critically examine research on caregiving in families of individuals with mental illness living in Taiwan, Hong Kong, and Mainland China. A search using computerized databases, public search engines, and references from retrieved articles revealed 37 studies published from 1990 to 2009. Four studies were theory driven at an individual level, and one study was guided by a family-level framework. Thirty-two articles were quantitative studies, and 5 were qualitative studies. All but 5 of 37 studies were cross-sectional. Findings suggest that misconceptions about mental illness, behavior disturbances, inadequate social support, and the limited value placed on caregiving contribute to maladaptation. Future research should include longitudinal studies guided by culturally appropriate family frameworks and studies using mixed methods.

Individual and family adaptation in Taiwanese families of individuals with severe and persistent mental illness (SPMI)

The purpose of this study was to examine individual and family adaptation in Taiwanese families of persons with severe and persistent mental illness. Mediating effects of social support and meaning of family caregiving on the relationship between pile-up of demands and family adaptation were also assessed. Data were collected from 84 families using mailed questionnaires and analyzed using principal component analysis and mixed linear modeling. Adaptation was associated with lower pile-up of demands, greater social support, and more positive interpretation of family caregiving. Partially mediating effects of social support and meaning of family caregiving were supported. The results imply a need for developing culturally sensitive interventions to decrease family demands and amplify individual, family, and community strengths and resources.

Taiwanese Nursing Students’ Perceived Knowledge and Clinical Comfort With Genetics

PURPOSE To examine perceived knowledge and clinical comfort with genetics among Taiwanese undergraduate nursing students. Information about the integration of genetics into the nursing curriculum was also assessed. DESIGN A descriptive, cross-sectional study. METHODS A self-report survey designed to assess perceived knowledge and clinical comfort with genetics was distributed to 501 Taiwanese undergraduate nursing students; 434 returned the completed survey. The survey also included questions concerning the integration of genetics in the nursing curriculum. Descriptive statistics and a one-way analysis of variance were used for data analysis. FINDINGS Perceptions of genetic knowledge differed significantly among the different levels of nursing students; juniors had the highest genetic knowledge mean scores, followed by seniors, sophomores, and freshmen. Juniors also reported receiving the greatest number of hours of genetic content in lecture. Clinical comfort with genetics did not vary significantly among the different levels of nursing students. The majority of nursing students considered lectures to be the most effective method for learning genetic information. CONCLUSIONS Findings reinforced evidence that perceived knowledge and clinical comfort with genetics among Taiwanese undergraduate nursing students are limited. It is imperative for practicing nurses and nursing students to promote the use of genetic information and technologies as a central science in the context of health care. More effort must be made to integrate genetic content into the Taiwanese nursing school curricula. CLINICAL RELEVANCE With the increasing pace of the genomic revolution, nursing students are required to integrate genetic information into the art of nursing practice with the goal of promoting the health of individuals, families, and communities.

Individual and family adaptation in Taiwanese families living with down syndrome.

The primary aim of this study was to examine the effects of family demographics, family demands, and family appraisal on adaptation in Taiwanese families of children with Down syndrome. A second aim was to assess the potential mediating effect of family appraisal on the relationship between family demands and adaptation. Eighty-three families completed mailed questionnaires. Data were analyzed using a principal component analysis and a mixed linear modeling. Gender, family demands, and family appraisal were significantly associated with individual health. Age of the child with Down syndrome, family demands, and family appraisal significantly accounted for family functioning. Family appraisal partially mediated the relationship between family demands and individual and family adaptation. Identification of family factors that influence adaptation will help in the development of culturally sensitive interventions to improve outcomes in Taiwanese families of children with Down syndrome.

Family-provider interactions surrounding the diagnosis of Down syndrome

During the past 40 years, much has been written about parental satisfaction with family-provider interactions surrounding the diagnosis of Down syndrome (DS).1–14 In addition, there have been numerous articles about how to break bad or difficult news to patients and families, with the unexpected diagnosis of DS frequently being used as an exemplar.15–25 Also, a number of educational programs have been developed to help healthcare providers feel better prepared to deliver the diagnosis of DS.26 –28 Additionally, parents of children with DS throughout the world have devoted a great deal of time, effort, and money to the development of educational resources (e.g., books, pamphlets, and videos) that can be used by healthcare providers to inform expectant or new parents about life with DS in the 21st century (http://www.ds-health.com/ds_sites.htm for links to resources). Furthermore, the Prenatally and Postnatally Diagnosed Conditions Awareness Act (S 1810) was signed into law on October 8, 2008, and became Public Law No: 110-374.29 One of the main goals of this legislation was to improve the quality of information and support services that pregnant women and new parents receive about DS and other prenatally and postnatally diagnosed conditions. Unfortunately, despite all of this attention being paid to family-provider interactions surrounding the diagnosis of DS, reports of parental dissatisfaction with the informing process continue to appear in the popular literature, as do reports of healthcare providers giving parents inaccurate, out-dated information about life with DS. Moreover, anecdotal reports of parents feeling pushed or coerced to make unwanted choices, such as undergoing invasive testing or terminating a pregnancy after the diagnosis of DS, are becoming more common.30–33 During a session on prenatal screening at the 10th World Down syndrome Congress in Ireland in 2009, many parents expressed concern that although advances in genomics may contribute to improved health and increased life span for individuals with DS, advances in genomics may also result in decreased support for individuals with DS and their families. A number of parents noted that once prenatal testing became a routine part of prenatal care in their country, there seemed to be a growing sentiment among healthcare providers that families who chose to continue a pregnancy after a prenatal diagnosis of DS are making the wrong choice. More importantly, because it is “their choice” to have a child with DS, questions are being raised about their government’s obligation to provide resources and support. At the heart of most arguments concerning termination as the “right choice” after a prenatal diagnosis of DS is the underlying assumption that individuals with DS have a negative impact on their family, their community, and society as a whole. Unfortunately, this is a widely held assumption, despite growing evidence that many families adapt successfully to the challenges associated with raising a child with DS and some even thrive.34–44 The continued existence of this assumption became very apparent during recent media coverage of a large-scale study by Chiu et al.45 demonstrating the clinical efficacy and practical feasibility of using multiplexed maternal plasma DNA sequencing analysis to screen for DS among high-risk pregnancies clinically indicated for amniocentesis or chorionic villus sampling. In most of the media coverage, the new test was presented as a way to prevent the unwanted birth of a child with DS without endangering the life of a “normal child.”46 Very little, if any, attention was paid to educating people about what life is like for individuals with DS and their families. The main purpose of this commentary is to advocate for the inclusion of accurate, up-to-date information about the family experience of living with DS in early discussions with expectant or new families after the diagnosis of DS. Preliminary findings from an ongoing study concerning adaptation and resilience in families of children with DS being conducted by the authors of this commentary suggest that although parental satisfaction with the informing process continues to be less than ideal, many parents of children with DS are satisfied with how they were informed, especially those who were given information about what life is like for children with DS and their families.47 Of the 224 mothers who completed the online survey, 52% were satisfied with how they were informed of their child’s diagnosis and 48% were dissatisfied. Twenty-three percent of the mothers who were satisfied were very satisfied, 22% were moderately satisfied, and 7% were slightly satisfied. Of those who were dissatisfied with how they were informed, 25% were very dissatisfied, 12% were moderately dissatisfied, and 11% were slightly dissatisfied. The 60 fathers who completed the survey responded in a similar manner, 50% were satisfied with how they were informed (25% very satisfied, 18% moderately satisfied, and 7% slightly satisfied) and 50% were dissatisfied (23 very dissatisfied, 17% moderately dissatisfied, and 10% slightly dissatisfied). Given the amount of attention that has been devoted to improving parental satisfaction with the informing process, one would hope to see improvement in parental satisfaction over time. However, for the current sample of parents, this was not the case. The relationship between age of child with DS and level of satisfaction was not significant. Parents of younger children with DS did not report higher levels of satisfaction than parents of older children with DS. Instead, levels of satisfaction remained fairly constant over the past 20 years, with approximately one half of the parents being satisfied and the other half being dissatisfied. Also, in terms of when parents first became aware of their child’s diagnosis (prenatally or postnatally), the relationship between timing of the diagnosis and satisfaction with how they were informed was not significant. From the School of Nursing, Family Health Division, Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.