Parental Narratives About Genetic Testing for Hearing Loss: A One Year Follow Up Study

Few studies examine whether and how parental attitudes towards genetic testing change over time. In this study we interviewed parents of 14 children with newly identified hearing loss at two time points: after referral to genetics and 1 year later. Qualitative analyses of parental narratives indicate that parental attitudes did not change significantly over this time. Parents who perceived genetic testing to be useful continued to value it after testing, while parents who did not perceive it as being useful for their child’s future held the same view a year later. The only parents who changed their views regarding the usefulness of genetic testing for hearing loss were those who reported that their children underwent significant changes in their hearing loss or were faced with other life threatening conditions. Parents were also often unaware of the role of the genetic counselor and how genetic counseling could help address many of their lingering questions and concerns. These emergent themes indicate the need for geneticists and genetic counselors to be aware of and sensitized to the questions and attitudes that bring parents to a genetic evaluation, as well as the reasons why parents may not follow up with genetic testing for hearing loss when recommended.     

Preimplantation Genetic Diagnosis: Understanding What Parents Plan to Tell Their Children About Their Conception

Over 10,000 babies have been born by PGD and PGS worldwide (Simpson, Prenatal Diagnosis 30(7): 682–695 2010). The experience of parents who have undergone this procedure and their children’s well-being are documented, but no research to date has explored whether parents intend to tell their children how they were conceived and whether this raises special issues for them. PGD practitioners recommend research in this area as parents of children born by PGD increasingly ask questions pertaining to disclosure. We conducted 30 in-depth interviews with couples who have had a baby conceived by PGD. We explored what couples plan to tell their children about how they were conceived, when they plan to do this, and issues they anticipate may arise. The couples had a family history of a monogenic disorder or chromosome rearrangement. Six themes emerged which highlight key issues: (1) To tell or not to tell? (2) Primary reason for undergoing PGD, (3) The ideal time to tell, (4) Situations which may warrant earlier disclosure, (5) Words which parents might choose, and (6) Issues which parents anticipate may arise. We conclude that parents are likely to inform their children about PGD because there is an affected sibling or relative about whom they ask questions, and/or their children are carriers of a condition their parents feel obliged to tell them about. Parents felt they would benefit from access to a genetic counsellor at the time of disclosure and are optimistic about the future of reproductive technology for their children.     

The Genetic Testing of Children for Cancer Susceptibility: Ethical,Legal, and Social Issues

Genetic testing for cancer susceptibility raises many ethical, legal, and social concerns, particularly when testing children is considered. The complexity of defining medical and psychosocial risks and benefits of genetic predisposition testing for multifactorial disorders, like cancer, is discussed. Presumed incompetence of children and adolescents and questionable ability of many adults to understand complex genetic information raise informed consent questions. Guidelines can aid professionals but there must also be a means of evaluating individual cases. Further research is needed to determine optimal methods of educating children and adults about genetic issues and to discriminate factors which contribute to satisfaction with decision-making about genetic testing. Legal issues and practical considerations are examined involving a duty to warn family members about genetic susceptibility and to re-contact previously-tested individuals as knowledge advances. Recommendations are offered concerning roles for social scientists and legal scholars in ethical integration of genetic testing into our medical and social framework.     

Patient and Family Descriptions of Ethical Concerns

Abstract

Ethically challenging situations routinely arise in the course of illness and healthcare. However, very few studies have surveyed patients and family members about their experiences with ethically challenging situations. To address this gap in the literature, we surveyed patients and family members at three hospitals. We conducted a content analysis of their responses to open-ended questions about their most memorable experience with an ethical concern for them or their family member. Participants (N?=?196) described 219 unique ethical experiences that spanned many of the prevailing themes of bioethics, including the patient-physician relationship, end-of-life care, decision-making capacity, healthcare costs, and genetic testing. Participants focused on relational issues in the course of experiencing illness and receiving medical care and concerns regarding the patient-physician encounters. Many concerns arose outside of a healthcare setting. These data indicate areas for improvement for healthcare providers but some concerns may be better addressed outside of the traditional healthcare setting.     

Impact of Huntington Disease Gene-Positive Status on Pre-Symptomatic Young Adults and Recommendations for Genetic Counselors

Huntington disease (HD) is an autosomal dominant, progressive neurodegenerative disorder for which there is no cure. Predictive testing for HD is available to asymptomatic at-risk individuals. Approximately half of the population undergoing predictive testing for HD consists of young adults (≤35 years old). Finishing one’s education, starting a career, engaging in romantic relationships and becoming a parent are key milestones of young adulthood. We conducted a qualitative study to explore how testing gene-positive for HD influences young adults’ attainment of these milestones, and to identify major challenges that pre-symptomatic young adults face to aid the development of targeted genetic counseling. Results of our study demonstrate that 1) knowing one’s gene-positive status results in an urgency to reach milestones and positively changes young adults’ approach to life; 2) testing positive influences young adults’ education and career choices, romantic relationships, and family planning; 3) young adults desire flexible and tailored genetic counseling to address needs and concerns unique to this population. Findings of this study contribute to the understanding of the impact of predictive testing for HD on young adults, and highlight issues unique to this population that call for further research, intervention and advocacy.     

Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease

This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington’s disease (HD) 20–30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct-to-consumer (DTC) genetic testing for HD is acceptable, and whether incidental/secondary findings should be returned in the context of whole exome/genome sequencing. Most—but not all—participants were in favor of an individual’s right to decide whether and when to pursue HD testing, use of a formal HD testing protocol, and returning medically actionable secondary findings. However, the majority of participants were opposed not only to physician ordering and DTC HD testing in the absence of a formal protocol but also to returning a secondary finding of an expanded HD allele. This study presents the opinions of a unique and extremely well-informed cohort on issues that need to be taken into careful consideration by genetic counselors and other medical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, and making decisions about whether and how to return incidental findings.     

Pediatric Whole Exome Sequencing: an Assessment of Parents’ Perceived and Actual Understanding.

Whole exome sequencing (WES) is an integral tool in the diagnosis of genetic conditions in pediatric patients, but concerns have been expressed about the complexity of the information and the possibility for secondary findings that need to be conveyed to those deciding about WES. Currently, there is no validated tool to assess parental understanding of WES. We developed and implemented a survey to assess perceived and actual understanding of WES in parents who consented to clinical WES for their child between July 2013 and May 2015. Fifty-three eligible surveys were returned (57% response rate). Areas with both low perceived and actual understanding about WES included how genes are analyzed and lack of protection against life insurance discrimination. Parents also had low actual understanding for two questions related to secondary findings – reporting of secondary findings in a parent (if tested) and whether secondary findings can be related to traits such as height and hair color. Further work to develop a validated tool to assess understanding of WES would be beneficial as WES is integrated more frequently into clinical care.     

Ethical Considerations for Assessing Parent Mental Health during Child Assessment Services

Parents play an integral role in the mental health service provision of children and adolescents, and they can have significant effects on the outcomes of youth. A growing body of research has linked parents’ own mental health status to numerous outcomes for their children, and recent guidelines have emerged recommending the assessment of parent psychopathology when treating child patients. However, these recommendations present a range of ethical considerations. Mental health professionals must determine if the assessment of a parent is empirically supported and that an assessment procedure appropriate for parents can be feasibly implemented. They must also respect the autonomy and confidentiality of parents while ensuring that assessment findings can be translated to meaningful benefits for child patients. This article details and discusses each of these concerns within the context of the relevant principles and standards of the 2016 American Psychological Association’s Code of Ethics. Further, it provides guidelines, relevant clinical examples, and an applied model for mental health professionals to consider the ethical implications of assessing parent mental health when serving child patients.     

Patient Motivation, Satisfaction, and Coping in Genetic Counseling and Testing for BRCA1 and BRCA2

Women with a strong family history of breast and/or ovarian cancer can now have genetic testing, that may identify mutations associated with increased cancer predisposition. Within the context of a clinical trial evaluating printed educational materials, we examined motivation, satisfaction, coping, and perceptions of genetic counseling and testing among 159 women who underwent pretest counseling and made a testing decision. Ninety-six percent of the participants elected to have BRCA1/2 testing. When making a decision about genetic testing, study participants were concerned less about the potential negative effects that could result from testing than the potential benefits. After counseling, participants said that they felt better able to make decisions that were right for them and that their questions and concerns were adequately addressed during the session. Ninety-five percent of the women were satisfied with their test decision. Participants used a range of strategies to cope with thoughts and feelings about cancer and/or genetic testing immediately following test decision. Results suggest that the genetic counseling session helped women make decisions about testing for BRCA1 and BRCA2, even in the setting of a trial in which all women also received detailed educational materials. Further, the results indicate that future research focusing on perceptions of risks and benefits of testing and of coping strategies immediately following test decision may be warranted.     

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

Due to the lack of empirical information on parental perceptions of primary results of whole exome sequencing (WES), we conducted a retrospective semi-structured interview with 19 parents of children who had undergone WES. Perceptions explored during the interview included factors that would contribute to parental empowerment such as: parental expectations, understanding of the WES and results, utilization of the WES information, and communication of findings to health/educational professionals and family members. Results of the WES had previously been communicated to families within a novel framework of clinical diagnostic categories: 5/19 had Definite diagnoses, 6/19 had Likely diagnoses, 3/19 had Possible diagnosis and 5/19 had No diagnosis. All parents interviewed expressed a sense of duty to pursue the WES in search of a diagnosis; however, their expectations were tempered by previous experiences with negative genetic testing results. Approximately half the parents worried that a primary diagnosis that would be lethal might be identified; however, the hope of a diagnosis outweighed this concern. Parents were accurately able to summarize their child’s WES findings, understood the implications for recurrence risks, and were able to communicate these findings to family and medical/educational providers. The majority of those with a Definite/Likely diagnosis felt that their child’s medical care was more focused, or there was a reduction in worry, despite the lack of a specific treatment. Irrespective of diagnostic outcome, parents recommended that follow-up visits be built into the process. Several parents expressed a desire to have all variants of unknown significance (VUS) reported to them so that they could investigate these themselves. Finally, for some families whose children had a Definite/Likely diagnosis, there was remaining frustration and a sense of isolation, due to the limited information that was available about the diagnosed rare disorders and the inability to connect to other families, suggesting that for families with rare genetic disorders, the diagnostic odyssey does not necessarily end with a diagnosis. Qualitative interviewing served a meaningful role in eliciting new information about parental motivations, expectations, and knowledge of WES. Our findings highlight a need for continued communication with families as we navigate the new landscape of genomic sequencing.     

Processes of Belonging for Citizen-Children of Undocumented Mexican Immigrants

In this article, we focus on the developmental contexts of middle childhood and early adolescence to explore the lives of citizen-children living with undocumented Mexican parents. We draw on the concept of belonging to highlight the distinct situation of citizen-children and the ways in which they come to understand their place in a world. To capture the experiences of citizen-children born to undocumented Mexican immigrant parents and their sense of belonging to place and community, we conducted in-depth interviews with 83 citizen-children in late childhood and early adolescence in three groups. One group of citizen-children lived in Mexico after their parents’ deportation. Another group remained in the U.S. after parents were detained or deported. The third group did not have a parent in deportation proceedings. Qualitative analyses of children’s recorded interviews revealed their experiences of discovery of parents’ undocumented status; political, social and material exclusion; and rupture of family ties. Children were keenly aware that birthright citizenship afforded them numerous privileges unavailable to their parents, but that it did not extend to the very privilege, they valued most: an intact family. The loss of parents through detention or deportation forced some children to consider existential questions about who they were and where they belonged, sometimes pitting family members against one another. Our findings suggest that belonging is intimately tied to broader forces of legal persecution that go beyond individualized notions of illegality and have deep, possibly lasting psychological effects.     

Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family

Carrier testing is widely available for multiple genetic conditions, and several professional organizations have created practice guidelines regarding appropriate clinical application and the testing of minors. Previous research has focused on carrier screening, predictive testing, and testing for X-linked conditions. However, family perspectives on carrier testing for X-linked lethal diseases have yet to be described. In this study, we explored communication within the family about carrier testing and the perspectives of mothers of sons with an X-linked lethal disease, Duchenne muscular dystrophy (DMD). Twenty-five mothers of sons with DMD participated in an anonymous online survey. Survey questions included multiple choice, Likert scale, and open ended, short answer questions. Analysis of the multiple choice and Likert scale questions revealed that most mothers preferred a gradual style of communication with their daughters regarding risk status. In addition, most participants reported having consulted with a genetic counselor and found it helpful. Comparisons between groups, analyzed using Fisher’s exact tests, found no differences in preferred style due to mother’s carrier status or having a daughter. Thematic analysis was conducted on responses to open ended questions. Themes identified included the impact of family implications, age and maturity, and a desire for autonomy regarding the decision to discuss and undergo carrier testing with at-risk daughters, particularly timing of these discussions. Implications for genetic counseling practice are discussed.     

Parents’ Experiences of Nonsuicidal Self-Injury Among Adolescents and Young Adults

We assessed the impact of adolescent nonsuicidal self-injury (NSSI) on parents in two studies. In Study 1, 16 Australian parents of adolescents with a history of nonsuicidal self-injury responded to open-ended questions about their child’s nonsuicidal self-injury. Data from 10 of the adolescents were matched with parents’ responses regarding the nature and extent of nonsuicidal self-injury, revealing that parents underestimated the frequency of nonsuicidal self-injury, the age of onset, and the likelihood their child would continue to self-injure. In Study 2, 22 American parents of adolescents with a history of nonsuicidal self-injury participated in interviews about their experiences. Parents in both studies reported changes in the parent–adolescent relationship after self-injury, which posed challenges to the family unit. When professional help had been sought, experiences were largely negative. Results support further investigation into family-based interventions to equip parents with tools to better relate to, and communicate with, their adolescent following self-injury. Results also suggest that mental-health professionals and general practitioners may require further training for nonsuicidal self-injury.     

“Just Beyond my Front Door”: Public Discourse Experiences of Children Adopted from China

The phenotypic differences between children and their adoptive parents in transracial adoptions make the child’s adoptive status readily apparent in public. Consequently, adoptees field more frequent questions and comments about the adoption. The present study examines the nature of public conversations about ethnicity and adoption of 41 elementary school age girls adopted from China and the ecological factors related to less frequent occurrences of such conversations and to the positive nature of these experiences. Results indicate that family structure (single parent vs. two parents) and parental bicultural competence predict membership in the favorable condition (reporting fewer public interaction experiences and reporting more positive experiences, respectively). Child’s age and racial diversity of the town of residence do not predict these outcomes. Implications for families, adoption professionals, teachers and researchers are discussed.     

‘I’ve got to prioritise’: being a parent with cystic fibrosis

Due to advances in earlier diagnosis and treatment, the life expectancy of a person born with cystic fibrosis (CF) has increased. Therefore, more people with CF are becoming parents but the psychological understanding of CF has lagged behind advances in medical treatment; there is very limited applied psychological research on which parents and professionals can draw when considering issues of parenting in this context. This qualitative research explored how mothers and fathers with CF experience and manage the dual roles of being a parent and living with CF. The aim was to facilitate development of an understanding of experience rather than test existing theory. A qualitative methodology was chosen as it allowed participants to reflect openly on their individual experiences. Nine participants completed semi-structured interviews either in their own homes or a clinic base which examined parenting, CF and the interaction between the two roles. Four participants were male and five were female with an age range of 21–50. Interpretive Phenomenological Analysis was used to interpret the participants’ accounts and generate super-ordinate and master themes. ‘Being a parent on compressed time’ was the super-ordinate theme which reflected the challenge of parenting within both a limited life trajectory and a complex treatment regime with daily adherence and time pressures. The findings have implications for parents with CF, those considering parenting and for health professionals working in CF services whose guidance needs to be grounded in an evidence-base. Further research is needed to explore the experiences of parents within different family structures, parents who have had a transplant and the perspectives of others in the wider system in which parents with CF are located.     

Prenatal Testing for Adult-Onset Conditions: the Position of the National Society of Genetic Counselors

Advances in genetic testing and the availability of such testing in pregnancy allows prospective parents to test their future child for adult-onset conditions. This ability raises several complex ethical issues. Prospective parents have reproductive rights to obtain information about their fetus. This information may or may not alter pregnancy management. These rights can be in conflict with the rights of the future individual, who will be denied the right to elect or decline testing. This paper highlights the complexity of these issues, details discussions that went into the National Society of Genetic Counselors (NSGC) Public Policy Task Force’s development of the Prenatal testing for Adult-Onset Conditions position statement adopted in November 2014, and cites relevant literature on this topic through December 2015. Issues addressed include parental rights and autonomy, rights of the future child, the right not to know, possible adverse effects on childhood and the need for genetic counseling. This paper will serve as a reference to genetic counselors and healthcare professionals when faced with this situation in clinical practice.     

CF carrier testing: Experience of relatives

Consensus exists that genetic counseling and CF carrier testing should be offered to individuals with a positive family history of CF. To learn more about their experience with genetic counseling and testing we conducted a series of structured telephone interviews and focus group discussions with individuals and couples who had undergone genetic counseling and carrier testing because of a family history of CF. Traditional genetic counseling appears to have been effective for this population. Subjects generally report having a positive counseling experience and few difficulties upon learning their carrier status. Subjects were quite knowledgeable about CF and their carrier risk and were highly motivated to seek testing. They may not be representative of all individuals with a family history of CF however. For carriers, concerns about whether and when to have children tested, and concerns about insurance implications of carrier status may emerge sometime after the initial counseling. Strategies for addressing these concerns and for providing efficient and effective education and genetic counseling for people with a family history of CF need to be developed.     

Quality care in residential placement for children and youth with developmental disabilities

There is a growing concern for quality care in residential placements outside of the natural family for children and youth with developmental disabilities. Ideally, children with developmental disabilities should remain with their natural parent or parents of parents with appropriate supports until the age when children typically leave home. In reality, parents of children and youth with development disabilities are not always able or willing to care for their children at home, and alternate residential placements must be found. This paper will discuss some of the issues surrounding the provision of quality care in out-of-home residential placements for children and youth with developmental disabilities.