More than 10 years after the first 'savior siblings': parental experiences surrounding preimplantation genetic diagnosis.

Preimplantation genetic diagnosis (PGD) to create a healthy donor for a sibling's hematopoetic stem cell transplantation for a child with Fanconi Anemia (FA) was first reported in 2001. Yet we know little about the experiences of parents who have encountered decision making surrounding PGD and human leukocyte antigen (HLA)-typing. The first aim of this study was to understand parents' awareness, perceptions and beliefs about reproductive decision-making including emotional, cognitive, moral dimensions as well as regret surrounding the use of this technology.

Waiting for the next shoe to drop: the experience of parents of children with fanconi anemia.

Fanconi Anemia (FA) is a rare genetic disease that generally affects children and results in bone marrow failure requiring blood or marrow transplantation for survival. A unique feature of the condition is the long, often many years, waiting period between genetic diagnosis and treatment. This qualitative study looked at the lived experience of parents confronting their child's diagnosis of FA.

Effect of an End-of-Life Planning Intervention on the completion of advance directives in homeless persons: a randomized trial.

Background: Few interventions have focused on improving end-of-life care for underserved populations, such as homeless persons.

Objective: To determine whether homeless persons will complete a counseling session on advance care planning and fill out a legal advance directive designed to assess care preferences and preserve the dignity of marginalized persons.

Design: Prospective, single-blind, randomized trial comparing self-guided completion of an advance directive with professionally assisted advance care planning.

A comparative analysis of ethical and professional challenges experienced by Australian and U.S. genetic counselors.

Ethical issues are an inevitable part of genetic counseling practice. Prior research identified 16 domains of ethical and professional challenges encountered by practitioners in the United States. In order to further validate these domains, the present study surveyed Australian genetic counselors.

Engaging homeless persons in end of life preparations.

Background: There are no prospective studies that have investigated the effects of an intervention to improve end of life (EOL) care in an underserved population.

Objective: To determine whether homeless persons will complete an advance directive (AD).

Design: Randomized trial comparing two modes of providing an opportunity for homeless persons to complete an AD.

Culture and acculturation influences on Palestinian perceptions of prenatal genetic counseling.

Patient cultural backgrounds strongly influence decision-making processes and outcomes in genetic counseling. The present study investigated influences of culture and acculturation on prenatal decision making processes of native Palestinians and Palestinian Americans. Seventeen native Palestinians and 14 first-generation, Palestinian Americans were interviewed and asked to imagine themselves as patients in hypothetical premarital and prenatal situations.

Coming full circle: a reciprocal-engagement model of genetic counseling practice.

As genetic health care and genetic testing expand from primarily addressing conditions that are exclusively genetic in nature to common diseases with both genetic and environmental components, the scope of genetic counseling has grown. Identification and utilization of a normative model of practice defined by members of the profession is critical as genetic services become more commonplace in medical care. The purpose of this paper is to describe the results of a consensus conference convened to define a model of genetic counseling practice based on the guidance of educators and leaders in the profession.

A national survey of genetic counselors' personal values.

Personal values are motivational sources for an individual's actions [Hitlin and Piliavin (Annual Review of Sociology 30:359-393, 2004)]. Genetic counselors' values may influence their behaviors in clinical practice, but a profile of their personal values has not been identified empirically. In this study, 292 genetic counselors completed the Schwartz Universal Values Questionnaire (SUVQ; Schwartz, S.

Dying on the streets: homeless persons' concerns and desires about end of life care.

Background: There is little understanding about the experiences and preferences at the end of life (EOL) for people from unique cultural and socioeconomic backgrounds. Homeless individuals are extreme examples of these overlooked populations; they have the greatest risk of death, encounter barriers to health care, and lack the resources and relationships assumed necessary for appropriate EOL care. Exploring their desires and concerns will provide insight for the care of this vulnerable and disenfranchised population, as well as others who are underserved.

Experiences with and attitudes toward death and dying among homeless persons.

Background: Homeless persons face many barriers to health care, have few resources, and experience high death rates. They live lives of disenfranchisement and neglect. Few studies have explored their experiences and attitudes toward death and dying.

Life on the receiving end: A qualitative analysis of health providers' illness narratives.

Purpose: Clinical empathy is integral to forging therapeutic patient-physician relationships. Illness narratives are a potentially rich source of insight into what it feels like to be a patient or patient's family member. The authors performed a qualitative analysis of illness narratives to develop an explicit framework for understanding what it feels like to be a health care recipient and to explore how providers' behaviors influence that experience.

A survey of genetic counselors' strategies for addressing ethical and professional challenges in practice.

There is limited research about ethical and professional dilemmas that genetic counselors encounter in their practice and their strategies for addressing them. In this study, 454 genetic counselors rated the frequency with which they encounter each of 16 ethical/professional challenges identified and categorized previously (McCarthy Veach P., Bartels DM, LeRoy BS (2001) J Genet Couns 10(2):97-119).

Defining Moments: Catalysts for Professional Development.

In this series of papers, 17 genetic counselors describe defining moments, that is, personal experiences or events that led to a further realization of themselves as genetic counselors. These experiences, both positive and negative, describe a significant impact on the authors' professional growth and development. A call for papers was issued through the National Society of Genetic Counselors listserv and through the Journal of Genetic Counseling in 2001.