Genomic Counseling in the Newborn Period: Experiences and Views of Genetic Counselors

As newborn screening (NBS) technology expands, genetic counselors will become more involved in counseling for NBS results, including those potentially generated from whole exome sequencing (WES) and eventually whole genome sequencing (WGS). Members of the National Society of Genetic Counselors (NSGC) responded to an online survey (n?=?208) regarding genomic counseling in the context of NBS. The majority of participants (82.1 %) did not feel prepared to counsel for WGS results from NBS. Counselors with previous WES/WGS counseling experience felt more prepared (p?=?0.005) to counsel for WGS results from NBS than those without WES/WGS experience. Overall, counselors expressed ethical and practical concerns regarding WGS in NBS, as well as a need for additional training regarding this application of the technology before it is implemented. Based on the results of this study, genetic counselors voice caution to the larger genetics community regarding expansion of NBS to incorporate genomic sequencing and advocate for additional education prior to initiating WGS into NBS.     

Existential themes in the treatment of people at suicide risk. Understandings and practices of specialist healthcare professionals

ABSTRACT

This qualitative study focuses on the ways in which existential themes were understood and addressed in therapeutic relationships with patients who had attempted suicide. Health care professionals (HCP) from Norway specialist healthcare participated in focus groups. The interviews were transcribed and analysed by systematic text-condensation through a four-step procedure. We found that the HCPs emphasised the context-specific functions of their departments. They considered these conversations essential but demanding. They indicated existential themes of hope/hopelessness, loneliness, meaning, life/death, shame, religion and suicide. The HCPs’ understandings of themes deemed to be existential and how they should be addressed were primarily based on clinical experience. This appeared to exacerbate the pressure on their personal involvement, leading to the question of whether patients’ existential needs are tackled or instead disappear into a conversational vacuum. The study suggests that HCPs' professional competence of existential themes pertaining to patients at suicide risk needs to be strengthened.     

Parents’ Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease

The clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to explore parents’ experiences of receiving the initial positive NBS result for their child with cystic fibrosis (CF) or sickle cell disease (SCD). Semi-structured, qualitative interviews were conducted with 22 parents (12 mothers and 10 fathers) whose children had been diagnosed with CF or SCD via NBS and were under the age of 1 year at the time of interview. The main themes that arose from the data were; parents previous knowledge of the condition and the NBS programme, the method of delivery and parental reactions to the result, sharing the results with others, the impact on parental relationships and support strategies. Study conclusions indicate that most parents thought initial positive NBS results should be delivered by a health professional with condition specific knowledge, preferably with both parents present. Genetic counselling needs to include a focus on the impact of NBS results on parental relationships. Careful consideration needs to be given to strategies to support parents of babies who have positive NBS results both in terms of the psychological health and to assist them in sharing the diagnosis.     

Pilot programs in newborn screening

The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to describe the evaluation of the assay to be used before the condition was officially adopted by a state for its newborn screening panel. Since Guthrie's introduction of screening for PKU, each time a new condition was added to the panel, the screening assay itself was validated through a population-based trial, in which the test was performed with de-identified samples to avoid association between the test result and the infant. This is considered by the laboratory as the "pilot phase" of adding a new condition. To advance the science of NBS, especially to accommodate new technologies that may provide new types of information (genetic versus physiological) for each new condition, pilot programs are essential. Involvement of the clinical community serves to improve these evaluations and provides the needed clinical validation of decisions made as a result of it. This paper describes the historical context of pilot programs in population-based NBS that utilize laboratory-based markers as indicators of concern; specifically, three applications that demonstrate different approaches to the use of pilots in adding conditions to a NBS panel are described.     

Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test

Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents’ preferences regarding counseling during their infant's sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents’ preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents’ distress while mismatched counseling tended to increase parents’ worry about their infant.     

A Systematic Review of the Effects of Disclosing Carrier Results Generated Through Newborn Screening

Evidence on the effects of disclosing carrier results identified through newborn screening (NBS) is needed to develop effective strategies for managing these results, and to inform debate about contradictory policies governing genetic testing in minors in the context of NBS relative to clinical care. This is likely to be even more important as technological opportunities for carrier identification through NBS increase. We report the results of a systematic review of evidence related to the generation of carrier results through NBS to summarize what is known about: (1) the outcomes associated with these results; (2) the best strategies for providing information and follow-up care to parents; and (3) the impact they have on reproductive decision-making. Our study expands the existing body of knowledge and identifies gaps in the evidence base. As key players in the management of carrier results clinically, genetic counselors are well positioned to engage in formative research and policy development in this area.     

Newborn Screening: Education,Consent, and the Residual Blood Spot. The Position of the National Society of Genetic Counselors

Newborn screening (NBS) is a minimally invasive lifesaving test. There is currently no federal mandate for NBS, thus states determine their own screening panel based on the recommendations of the Secretary’s Advisory Committee on Heritable Disorders in Newborn and Children (SACHDNC), which was recently re-chartered as the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC). After NBS is completed, a couple of residual blood spots remain. While some states allow these spots to be used for public health and scientific research purposes, parents are not always informed about these additional uses. This paper addresses the National Society of Genetic Counselors’ (NSGC’s) position about NBS and blood spot storage/use and the rationale for these positions. The National Society of Genetic Counselors strongly supports newborn screening for the uniform screening panel of conditions recommended by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children. NSGC also supports storage and use of blood spot samples by newborn screening laboratories and transparent policies that govern these activities.     

Disparities in Current and Future Childhood and Newborn Carrier Identification

International carrier testing guidelines discourage testing in childhood to preserve autonomous decision making and prevent detrimental psychosocial consequences. Despite the discouragement of autosomal recessive carrier testing during childhood, some sickle cell disease (SCD) or cystic fibrosis (CF) carriers are incidentally identified through UK and international newborn screening (NBS). This creates a scenario where parents may have knowledge of their newborn’s, but not older child’s carrier status. In addition, there is wide variation in the identification of CF and SCD carriers due to the screening technologies implemented by different NBS programs. The current and future availability of childhood testing are determined to some extent by the impact of testing on children and parents (whether this is beneficial or detrimental to wellbeing). However empirical research informing carrier guidance and practice is conflicting. Echoing previous calls, this discussion highlights the need for further qualitative and longitudinal research with children to consider the psychosocial impact of carrier testing on children and role of disclosure from parents on adaptation to results. It is recommended that professionals aim to minimize harms resulting from carrier identification by providing support for parents and children following NBS. Support for non-genetics specialists from genetic counselors to enable discussion of carrier results with children is suggested.     

Predictive Genetic Testing of Children for Adult-Onset Conditions: Negotiating Requests with Parents

Healthcare professionals (HCPs) regularly face requests from parents for predictive genetic testing of children for adult-onset conditions. Little is known about how HCPs handle these test requests, given that guidelines recommend such testing is deferred to adulthood unless there is medical benefit to testing before that time. Our study explored the process of decision-making between HCPs and parents. Semi-structured interviews were conducted with 34 HCPs in 8 regional genetic services across the UK, and data were thematically analysed. We found that instead of saying ‘yes’ or ‘no’ to such requests, many HCPs framed the consultation as an opportunity to negotiate the optimal time of testing. This, they argued, facilitates parents’ considered decision-making, since parents’ eventual decisions after requesting a test was often to defer testing their child. In cases where parents’ requests remained a sustained wish, most HCPs said they would agree to test, concluding that not testing would not serve the child’s wider best interest. As a strategy for determining the child’s best interest and for facilitating shared decision-making, we recommend that HCPs re-frame requests for testing from parents as a discussion about the optimal time of testing for adult-onset disease.     

Critical role of the March of Dimes in the expansion of newborn screening

Expansion of newborn screening (NBS) has been driven primarily by a combination of advances in technology and medical treatment, and the sustained advocacy efforts of consumers and voluntary health organizations. The longstanding leadership of the March of Dimes has been credited by many as a critical factor in the expansion and improvement of state NBS programs. From the historic vantage point of four decades of March of Dimes involvement with newborn screening, this report reviews the unique origin of the first newborn screening test, and identifies from this point of origin several of the elements which still define the evolution of advocacy for NBS today. It also documents activities at the federal level and in seven states that have lead to expanded screening for newborns. Advances in NBS technology and medical treatment have informed policy development. Mobilization of volunteers and focused advocacy activities have brought about expansion of screening opportunities for newborns across the United States. But more work is needed. Continued application of the effective strategies identified in this report will help assure that all families have the best possible chance of assuring that their newborns do not have to suffer the complications of conditions that we know can be treated effectively.     

Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling

Genetic counseling for Gaucher disease is complicated by the vast degree of clinical heterogeneity encountered in the disorder. Recent advances in our understanding of the molecular genetics of Gaucher disease are particularly relevant to genetic counseling. Although the identification of mutations in the glucocerebrosidase gene has enabled genotypic screening of Gaucher patients, the ability to reliably predict patient outcome on the basis of DNA studies is often limited. An appreciation of both the spectrum of clinical manifestations in Gaucher patients and the limitations of the available genotypic information is necessary when counseling patients, families and at-risk individuals.     

Mandatory versus voluntary consent for newborn screening?

Virtually every infant in the United States undergoes a heel stick within the first week of life to test for a variety of metabolic, endocrine, and hematological conditions as part of state-run universal newborn screening (NBS) programs. The history of this mandatory public health program is examined, as well as whether the policy was morally justifiable. Three changes in NBS practice necessitate a re-evaluation of the mandatory nature of NBS. First is the adoption of NBS for hemoglobinopathies in the 1980s that led to the identification of many sickle cell carriers and carriers of other hemoglobin variants. In all other contexts, carrier testing requires consent, and there is no moral rationale why NBS ought to be exceptional. Second is the application of tandem mass spectrometry (MS/MS) to NBS in the 1990s that led to the identification of many metabolic conditions and variants, some of which were not treatable and others of which had unknown clinical relevance. To the extent that the conditions do not need emergent diagnosis and treatment, there is less justification for mandatory screening. Third, there is great interest in using residual blood spots for research, and the cornerstone of research ethics is the voluntary consent of the participant (or his or her proxy). These three changes support revising mandatory NBS with a tiered consent process to best balance respect for parental autonomy and the promotion of children's health.     

Parents' perceptions of the quality of infant sleep behaviours and practices: A qualitative systematic review

A systematic review of qualitative studies was conducted to explore how parents perceive sleep quality in their infants aged 0–24 months and the factors that influence these perceptions. A systematic search of the databases Scopus, Embase, Cinahl, PsycInfo and MEDLINE, was undertaken to identify eligible peer-reviewed studies published between 2006–2021. Ten papers met inclusion criteria and were subsequently included in the review. Evaluation of papers with the Critical Appraisal Skills Programme qualitative checklist classified papers as weak, moderate or strong, with half considered strong. Thematic synthesis identified one superordinate theme, culture, and five interrelated subordinate themes regarding how parents perceive their infant's sleep and the factors that may influence these perceptions. These themes were: (1) Infants physical and emotional comfort; (2) Beliefs regarding safety; (3) Parental and familial wellbeing; (4) Perceived degree of infant agency; (5) Influence of external beliefs and opinions. The findings from this review may assist practitioners in providing parents with personalized and culturally sensitive information regarding infant sleep and may also inform antenatal and early intervention practices, subsequently minimizing parental distress regarding infant sleep patterns.     

MPS II: Adaptive Behavior of Patients and Impact on the Family System

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a chronic and progressive X-linked lysosomal disease that mainly affects males. It occurs in 1 in every 65,000 to 1 in 132,000 births. There are two distinct forms of the disease based on age of onset and clinical course: mild and severe. MPS II affects many organ systems including the nervous, cardiovascular, gastrointestinal and respiratory systems. Complications can include vision problems, progressive hearing loss, thickened and elastic skin, mental impairment, and enlarged liver and spleen. We herein focus on the adaptive behavior of individuals with MPS II, and the impact of MPS II on the family system. Outcomes from the Vineland-II Adaptive Behavior Scales showed that the MPS II patient sample experienced significantly lower functioning in communication, daily living skills, socialization, and motor skills compared to normative data. Patients with severe MPS II were found to have significantly lower adaptive functioning in all domains, as compared to those with mild MPS II. Length of time on ERT had no significant relationship to adaptive functioning. Results from the Peds QL Family Impact Module indicated that families of patients with MPS II experienced a lower overall health-related quality of life and overall lower family functioning (including lower emotional and cognitive functioning) than those with chronic illnesses residing in an inpatient setting.     

Can Population-Based Carrier Screening Be Left to the Community?

As more genes and mutations are identified in diseases for which particular populations are at increased risk, it is becoming more important to address the social interface between communities and carrier screening. While disproportionately targeted in genetic research, the Orthodox Jewish community often shies away, due to social and religious constraints, from genetic testing and counseling offered by the public health system. The solution is provided by Dor Yeshorim—a program which has become for many a prototype for the successful merging of modern reprogenetic screening and traditional communities. My commentary focuses on the gaps between the rationale and practice of Dor Yeshorim, and the implications of these gaps regarding the trade-off involved in leaving carrier screening to the community. I conclude with a set of questions raised by the implications of the unintended consequences of community genetics.     

Diagnosis of Fabry Disease via Analysis of Family History

Fabry disease is an X-linked lysosomal storage condition caused by a deficiency of α-galactosidase A. In order to determine the average number of family members who are diagnosed with Fabry disease following the diagnosis of a proband, four lysosomal storage disease centers across the United States reviewed the completed pedigrees of their Fabry disease patients. In addition, data from three Fabry disease families from other centers were submitted by patients directly. The pedigree review found 74 probands (54 males and 20 females) who had 357 diagnosed family members, of which 223 were female (60.5%) and 146 were male (39.5%). Analysis found that, on average, there were five family members diagnosed with Fabry disease for every proband. Now that enzyme replacement therapy (ERT) is available for the treatment of Fabry disease, this finding emphasizes the need for all health care professionals to ensure a detailed pedigree has been constructed for each patient affected by Fabry disease and to encourage testing and evaluation of all at-risk family members.     

Performance Management: A Systematic Review of Processes in Elite Sport and Other Performance Domains

Performance management is integral for high-performing organizations and teams. The purpose of this review was to synthesize evidence on performance management across elite sport and other performance-focused domains (business, performing arts, high-risk professions). A systematic search and screening strategy was undertaken. Twenty studies satisfied the inclusion criteria. Thematic synthesis enabled the identification of key components of performance management. Similarities and differences between elite sport and other domains are identified across the following themes: strategic performance management, operational performance management, individual performance management, and leadership of the performance team. Implications for practitioners in elite sport are also considered across these themes.     

Women’s Attitudes Toward Testing for Fragile X Carrier Status: A Qualitative Analysis

Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene. We have conducted a qualitative analysis of responses from women concerning their attitudes toward testing for carrier status of the fragile X mutation among reproductive-age women. We obtained responses from focus groups including women with and without FXS in their families. We found the following themes: (1) mothers of children with FXS have difficulty formulating their opinions on population screening because of their unique experiences surrounding their own carrier diagnosis and their relationship with their children with FXS, (2) the motivation for carrier testing and need for information differ by family history of FXS and parental status, and (3) the timing of carrier testing with respect to a woman’s life stage dictates whether carrier information will be viewed as beneficial or detrimental. There was evidence that non-carrier women from the general population would be wholly unprepared for positive carrier results. These findings have significant implications for genetic counseling as well as for population screening.     

Privacy and the Human Genome Project

The Human Genome Project has raised many issues regarding the contributions of genetics to a variety of diseases and societal conditions. With genetic testing now easily conducted with lowered costs in nonmedical domains, a variety of privacy issues must be considered. Such testing will result in the loss of significant privacy rights for the individual. Society must now consider such issues as the ownership of genetic data, confidentiality rights to such information, limits placed on genetic screening, and legislation to control genetic testing and its applications. There is often a conflict between individual rights to privacy and the need for societal protection.