Genetic Counseling for Confined Placental Mosaicism: A Case Report

New technologies can lead to unforeseen discoveries which in turn can lead to diagnostic and counseling dilemmas. A case which involved confined placental mosaicism for trisomy 16 is presented to illustrate such a situation. While interpreting data and explaining a newly described phenomenon created uncertainties for the genetic counseling team, the patient and her husband were primarily dealing with grief surrounding the loss of a wanted pregnancy. It is important to recognize that the counseling issues may be different for the professionals and the families. Genetic counselors must be cognizant of their own reactions and those of their clients and be prepared to use all of their counseling skills to address these varying needs.     

Exploring Adoption with Clients: The Need for Adoption Education Within the Genetic Counseling Profession

Genetic counselors and other health professionals may encounter adoption during any counseling session. They must be skilled in using appropriate language and understand how to approach and discuss this topic with clients. A thorough knowledge of adoption as an option for clients facing a prenatal or postnatal diagnosis is necessary when presenting individuals with non-biased information needed for informed decision-making. However, three preliminary studies have demonstrated an absence of graduate education and lack of a professional knowledge base regarding this option (Mates 2008; Oksala 2007; Perry 2003). We discuss the impact of medical professionals’ preconceptions on client decision-making, increasing early identification of fetal anomalies, deficiency of adoption knowledge and resources, and the resulting need for genetic counselors and other health professionals to develop their skills in discussing adoption with clients.     

Supporting adolescents who have a sibling with a life-threatening illness: An exploratory study

Aims: This research explores issues encountered by adolescents who have a sibling with a life-threatening illness, and those who work therapeutically with them. Method: Eight semi-structured, face-to-face interviews were conducted with participants who work therapeutically with this client group. Attention was given to the empathic quality of interviews. The interview sample included six females and two males, encompassing a wide demographic area within England and Wales. Five were counsellors and three had other professional trainings. Findings: Data was analysed using grounded theory. Results showed that the provision of family as well as individual therapeutic support for young people would ease stress for families and professionals alike, and that peer support was considered important. Implications for practice: The results of this research suggest that organisations working with families experiencing a life-threatening illness would benefit from attending to the quality of support offered to their staff, as well as the families they work with.     

Psychoeducation and managed care: Clinical issues for the 1990s

Managed care has challenged mental health professionals to develop more efficient ways of addressing patient care needs. Psychoeducational programs, for patients and their families, have emerged as a medium by which relevant education and mutual support can be provided to participants. A review of the literature, a comprehensive model of psychoeducation, and the advantages of such models within the managed care program are offered. Also addressed are issues and import, treatment and research considerations.     

A fairy tale with a twist: pastoral counseling with adoptive families

Adoption counseling often focuses primarily on the enigmatic issues faced by adoptees. Very little attention, however, is pointed in the direction of the adoptive parents and their unique struggles. This article begins by providing some current information on adoption in the United States and ensuing implications for pastoral caregiving. Some of the unique challenges associated with the adoption experience are delineated, primarily focusing on systemic and personal issues faced by many adoptive families. Several practical interventions are suggested for pastoral caregivers working with adoptive families. Finally, the entire adoption experience is framed within a theological perspective offering hope to adoptive parents and adoptees.     

The Challenge of Cultural Blindness: Implications for Family-Focused Service Delivery

When dealing with culturally diverse families, special education professionals need to be aware of the challenge of cultural blindness and acknowledge the cultural assumptions imbedded in the services they offer. Using data from qualitative interviews with Native American mothers and participant observations of a parent support group on their reservation, I analyze the implications of cultural blindness for the empowerment of minority families.     

Schools as Health Service Delivery Sites: Current Status and Future Directions

Summary

The health of our nation is inextricably linked with the health of our children. While families and professionals alike have recognized this truth for decades, current social reform movements in education and health services have provided an unprecedented opportunity for schools to become equal partners in addressing the needs of children, families, and communities in a wholistic, boundary-free, and collaborative manner. Since schools are the one social institution with which every child has contact, they offer a natural environment for assessment, services, and follow-up to promote the convergent education and health agendas articulated in Goals 2000 and Healthy People 2000. This article examines the components of education and health care reform with particular attention to a recon-ceptualization of health care services in schools. Within this framework, special services professionals are highlighted as leaders in service coordination and delivery for students, staff, and the community at large.     

Innovation in therapeutic practice with ‘violent youth’: A discourse analysis of the non‐violent resistance approach

Introduction: The introduction of the innovative non‐violent resistance approach (NVR) at a multi‐agency service in east Kent, UK, has presented challenges in terms of the recruitment of the necessary wider professional support for the family, with some professionals seeing the approach as not child‐focused. Aims and objectives: To identify child‐focused themes among professionals, and to compare these with discourses used in NVR and, for comparison, in the Webster‐Stratton approach, to elucidate possible obstacles to the acceptance by professionals of NVR. Methods and analysis: A focus group of experienced professionals was convened to discuss what it means to be child‐focused, and a thematic analysis was conducted. Key texts from NVR and the Webster‐Stratton approach were selected and analysed using Foucauldian discourse analysis. Results: Being child‐focused was considered to require the child's voice being heard, at least by the parents. Power differentials and developmental issues were also highlighted in the discussion. The key text analyses suggests that the Webster‐Stratton approach is communicated through familiar ‘biomedical’ and ‘missionary’ discourses, while surprisingly NVR is communicated through a discourse of ‘war’ as well as the more familiar and child‐focused ‘family values’ discourse. Implications: The ‘war’ discourse used by NVR, in which violent young people are seen as aggressors and oppressors, challenges the traditional discourses of childhood formed around notions of innocence. The implications of these findings are discussed in relation to furthering the adoption of NVR as an effective way of working to help violent children of all ages.     

Communication of Information about Genetic Risks: Putting Families at the Center

Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential for molecular diagnoses increased, with implications not only for patients but also their relatives. The need for genetic counseling and intrafamilial circulation of information on genetic risks grew accordingly. Also, the amount and, particularly, the complexity of the information to convey multiplied. Sharing information about genetic risks with family members, however, has never been an easy matter and often becomes a source of personal and familial conflicts and distress. Ethical requisites generally prevent healthcare professionals from directly contacting their consultands' relatives (affected or still at risk), who often feel unsupported throughout that process. We discuss here the communication of genetic risks to family members. We first consider genomic testing as a basis for family‐centered health care, as opposed to a predominant focus on the individual. We reviewed the literature on sharing genetic risk information with family members, and the associated ethical issues for professionals. Some clinical cases are presented and discussed, and key issues for meeting the needs of individuals and families are addressed. We argue that genetic information is inextricably linked to the family and that communicating about genetic risks is a process grounded within the broader milieu of family relationships and functioning. We conclude for the need for a more family‐centered approach and interventions that can promote sensitive attitudes to the provision of genetic information to and within the family, as well as its inclusion in educational and training programmes for genetic healthcare professionals.     

Recommendations for standardized human pedigree nomenclature

The construction of an accurate family pedigree is a fundamental component of a clinical genetic evaluation and of human genetic research. Previous surveys of genetic counselors and human genetic publications have demonstrated significant inconsistencies in the usage of common pedigree symbols representing situations such as pregnancy, termination of pregnancy, miscarriage, and adoption, as well as less common scenarios such as pregnancies conceived through assisted reproductive technologies. The Pedigree Standardization Task Force (PSTF) was organized through the Professional Issues Committee of the National Society of Genetic Counselors, to establish recommendations for universal standards in human pedigree nomenclature. Nomenclature was chosen based on current usage, consistency among symbols, computer compatibility, and the adaptability of symbols to reflect the rapid technical advances in human genetics. Preliminary recommendations were presented for review at three national meetings of human genetic professionals and sent to >100 human genetic professionals for review. On the basis of this review process, the recommendations of the PSTF for standardized human pedigree nomenclature are presented here. By incorporating these recommendations into medical genetics professional training programs, board examinations, genetic publications, and pedigree software, the adoption of uniform pedigree nomenclature can begin. Usage of standardized pedigree nomenclature will reduce the chances for incorrect interpretation of patient and family medical and genetic information. It may also improve the quality of patient care provided by genetic professionals and facilitate communication between researchers involved with genetic family studies.Reprinted with permission from theAmerican Journal of Human Genetics 56:745–752, 1995, The University of Chicago Press. © 1995 by The American Society of Human Genetics. All rights reserved.     

The experiences of transgender and non-binary children and young people and their parents in healthcare settings in England,UK: Interviews with members of a family support group

Abstract

Background: Transgender and non-binary children and young people and their parents in England, UK are poorly served across a range of healthcare settings. Whilst UK equalities legislation and international guidance on transgender healthcare pathways protects this group from discrimination and mandates an affirmative approach, services in England are not keeping pace.

Aims: This study aims to draw on the experiences of transgender and non-binary children, young people and their parents in a support group in England in order to investigate their experiences of healthcare provision, and to develop some ideas for improvement.

Method: Data was collected with participants in a family support group which offers a parent helpline service, social groups for children and parents, and training for schools and other organizations. 65 parents and children from 27 families from the family support group attended participatory workshops where they were given a range of briefs: “health,” “family,” “friends,” and “education.” Their participation involved being asked to define their own interview questions and collect data by interviewing each other. Their interview notes constituted the raw data. Data was coded inductively by the author with respondent checking as a second stage.

Results: Results constitute the views of a small group of people, so cannot be generalized. However, they do illustrate some of the issues which may arise. Participants’ experiences elicited five key themes: professionals’ perceived lack of clinical and therapeutic knowledge; mental distress caused by excessive waiting lists; professionals’ stereotyped gender assumptions; direct discrimination within healthcare settings; and a lack of attention to parent and child voice, especially in terms of school-based experiences and where a patient had a diagnosis of autism.     

Communication about DTC Testing: Commentary on a ‘Family Experience of Personal Genomics’

This paper provides a commentary on ‘Family Experience of Personal Genomics’ (Corpas 2012). An overview is offered on the communication literature available to help support individuals and families to communicate about genetic information. Despite there being a wealth of evidence, built on years of genetic counseling practice, this does not appear to have been translated clearly to the Direct to Consumer (DTC) testing market. In many countries it is possible to order a DTC genetic test without the involvement of any health professional; there has been heated debate about whether this is appropriate or not. Much of the focus surrounding this has been on whether it is necessary to have a health professional available to offer their clinical knowledge and help with interpreting the DTC genetic test data. What has been missed from this debate is the importance of enabling customers of DTC testing services access to the abundance of information about how to communicate their genetic risks to others, including immediate family. Family communication about health and indeed genetics can be fraught with difficulty. Genetic health professionals, specifically genetic counselors, have particular expertise in family communication about genetics. Such information could be incredibly useful to kinships as they grapple with knowing how to communicate their genomic information with relatives.     

Diagnoses,Relational Processes and Resourceful Dialogs: Tensions for Families and Family Therapy

The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM‐5), given its psychiatric focus on mental disorders in individuals, presents families and family therapists with challenges. Despite considerable controversies over its adoption, the DSM‐5 extends a process of standardizing a language for human and relational concerns. No longer a diagnostic language of professionals alone, its use is medicalizing how mental health funders and administrators, as well as clients, respond to human concerns. For family therapists who practice systemically, particularly from poststructuralist and strengths‐based orientations, many tensions can follow when use of the DSM‐5 is expected by mental health administrators and funders, or by clients who present concerns about themselves or a diagnosed family member. In this paper, I explore how such DSM‐5 related tensions might be recognized, navigated, and negotiated in the practice of family therapy with clients, and with administrators and funders.     

Coping with Floods: Assessment, Intervention, and Recovery Processes for Survivors and Helpers

There has been unprecedented and destructive flooding in various parts of the United States during the past five years, particularly during the period of 1997 to 1998. Survivors' predictable emotional and physiological responses usually progress through five phases over a period of time toward either resolution or symptom development To preclude more severe and chronic symptoms, survivors should be debriefed by trained professionals within 48 hours, followed by more specific psychotherapy if they are more severely distressed. Finally, survivors and their families can benefit from participating in a unique twelve step program called SWWIM, which is described in detail in the paper.     

How Might the Genetics Profession Better Utilize Social Media

Social media is a common method of communication in people’s personal lives and professional settings. Gallagher et al. (2016) recommended, “it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals.” Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.     

Substance Abuse Treatment Outcomes: Treatment Practice and Policy Implications

Treatment professionals, whether clinicians, scientists, or policy makers, are interested in developing methods to improve behavioral health treatment outcomes. Clinicians are interested in knowing what treatment practices to incorporate into the services they offer clients. Policymakers request guidance regarding which decisions are most likely to lead to effective treatment approaches and structures. Scientists are eager to contribute knowledge pertinent to building and evaluating effective treatment practices and policies. The papers in this special series provide information on substance abuse treatment practices andpresent findings relevant to clinical practice, policy decisions, and scientific inquiry. This paper provides a brief overview of the National Treatment Improvement Evaluation Study (NTIES) and briefly summarizes the other research papers included in this issue, all of which exemplify practice and policy issues in the substance abuse treatment field and bolster approaches applied to address these issues.     

Conceived Through Rape/Incest? Adoptive Parents’ Experiences Managing Uncertainty and Disclosure Surrounding their Children's Origins

Adoptive parents may be placed with children conceived under difficult circumstances, such as via rape or incest. At the same time, adoptive parents are generally encouraged to communicate openly with their children about their adoption stories and birth families. No research has examined the experiences of parents who adopt children who were conceived through rape or incest. This exploratory study examines how parents discuss their decision-making when adopting children conceived via rape or incest, how they manage varying levels of uncertainty about their children's origins, and whether and how they plan to disclose this information to children. The researchers used thematic analysis to examine the experiences of 11 couples (22 parents) interviewed at four time points after adopting children who were reportedly conceived via rape or incest. Findings revealed that even soon after adopting, parents discussed the need to eventually talk to their children about their conception circumstances. Parents generally struggled to determine how and when to disclose this information, particularly when they felt uncertain about the veracity of the conception stories they had been told. Some hoped to rely on professionals or birth mothers to guide them in these communications. Findings have implications for supporting adoptive families as they navigate the complexity of managing sensitive information and uncertainty when adopting children conceived through rape or incest. Practitioners should provide ongoing guidance to adoptive parents about how and when to disclose developmentally appropriate information to children about difficult conception circumstances.     

Engaging families as experts: collaborative family program development

This article presents the collaborative family program development (CFPD) model, a collaborative research-based approach to creating community-based programs for families. In this approach, families are viewed as experts on the nature of their challenges and on what they desire in a program. This approach is particularly useful in developing programs for families who have experienced social oppression and who may have been reluctant to participate in programs created for them by professionals without their consultation. In contrast, when professionals adopt the stance of respectful learners, families respond by actively engaging in the program development research and in the program created from it. This article describes the nature and complexities of a collaborative program development stance, the unique contribution to community-based program development offered by a family systems focus, and the 10 steps in the CFPD approach. These 10 steps guide movement from initiating the project and forming collaborative professional partnerships to engaging cultural consultants; conducting in-depth research to understand the problems, resources, contexts, and recommendations from the perspective of families who will receive the program and from the perspective of front-line professionals working with these families; transforming research findings into program contents and formats; and implementing, evaluating, revising, and replicating the program. The approach is illustrated by a program called Fresh Start for Families, developed and replicated for families in New York City who are homeless and attempting to move from welfare to work.     

A project to strengthen linkages between genetic centers and child welfare services

Genetic centers are reaching out to underserved populations. One of the most vulnerable underserved populations is children receiving child welfare services. Delivering genetic services to this group is particularly problematic because of multiple barriers. The first step in overcoming barriers is developing linkages between the genetic and adoption service systems with the goal of increasing referrals of child welfare clients to genetic services. This paper presents a model of fostering linkages that was developed under the auspices of the Mid-Atlantic Regional Human Genetics Network with support from the Maternal and Child Health Bureau, Genetic Services Branch. Although the project was regional and funded, the model can be applied at the local level.