Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania.

Sickle cell disease (SCD) is a single gene blood disorder characterised by frequent episodes of pain, chronic anaemic, acute chest syndrome, severe disease complications and lifelong debilitating multi-system organ damage. Genetic testing and screening programs for SCD and the sickle cell trait (SCT) are valuable for early diagnosis and management of children living with SCD, and in the identification of carriers of SCT. People with SCT are for the most part asymptomatic and mainly identified as through genetic testing or when they have a child with SCD. This qualitative study explored perceptions towards genetic testing for SCD and SCT in Cameroon, Ghana, and Tanzania. The results show a general preference for newborn screening for SCD over prenatal and premarital/preconception testing, primarily due to its simpler decision-making process and lower risk for stigmatization. Premarital testing for SCT was perceived to be of low public health value, as couples are unlikely to alter their marriage plans despite being aware of their risk of having a child with SCD. Adolescents were identified as a more suitable population for SCT testing. In the case of prenatal testing, major concerns were centred on cultural, religious, and personal values on pregnancy termination. The study revealed a gender dimension to SCD/SCT testing. Participants mentionned that women bear a heightened burden of decision making in SCD/SCT testing, face a higher risk of rejection by potential in-laws/partners if the carriers of SCT, as well as the possibility of  divorce if they have a child with SCD. The study highlights the complex cultural, ethical, religious and social dynamics surrounding genetic testing for SCD and emphasises the need for public education on SCD and the necessity of incorporating genetic and psychosocial counselling into SCD/SCT testing programs.

Availability of psychological resources for parents receiving communication of positivity at newborn screening for metabolic diseases in Italy.

Receiving information in the case of a positive or false-positive expanded newborn screening (ENBS) result for metabolic diseases is a stressful event. The availability of psychological support to families is crucial across the different communication steps and is recommended by different guidelines and position papers. However, more information is needed about the availability of psychological resources in the ENBS process. This national survey aimed to provide an overview of the availability of psychological resources for parents who received communication of positivity at the ENBS in the 23 Italian centers and how the support is provided to parents. An online survey was sent to the Heads of the ENBS centers asking about the availability of a clinical psychologist, their involvement in the ENBS process, and an estimation of parents receiving psychological support. More than 60% of the centers report having a clinical psychologist in the ENBS team; however, in more than 50% of cases, the psychologist does not participate in the consultation with parents (nor for the first consultation post-positivity or at confirmation of diagnosis). Furthermore, nearly 60% of the centers reported the experience of parental rejection of psychological sessions.  Conclusion: There is a need for harmonization among the Italian ENBS centers concerning the availability of psychological resources and how these resources are provided to families. Parents' needs remained only partially fulfilled. What is Known: • Receiving communication of positivity at the ENBS can be highly stressful for parents and requires adequate psychological support. • The guidelines recommend psychological support for parents during the ENBS process. What is New: • Only 14/23 (60.9%) of Italian ENBS centers have a clinical psychologist within the team. • In half of the consultations with parents receiving communication of positivity, the clinical psychologist is never involved.

Perception of genomic newborn screening among peripartum mothers.

Advances in genomic technology have generated possibilities for expanding newborn screening from traditional procedures to genomic newborn screening (gNBS). However, before the implementation of gNBS, it is crucial to address various aspects, including parental attitudes, at the national level. With this aim, we analyzed the attitudes and expectations of Slovenian peripartum mothers regarding gNBS and the acceptability of its implementation into the Slovenian health system. A questionnaire-based study was conducted on a convenience sample of 1136 peripartum mothers (a response rate of 84.1%) in a hospital setting in Slovenia. We measured participants' level of general genetic knowledge, motivation to undergo gNBS, attitude toward its benefits and drawbacks, willingness to participate financially, and factors that would influence their decision to undergo gNBS. Most participants exhibited a positive attitude (83.2%) and were motivated to undertake gNBS (63.4%). They were willing to share genetic data and also contribute to the testing costs. Mothers with better genetic literacy and higher education level, and those with the familial genetic testing experiences were more supportive of gNBS. However, several emotional and socio-ethical concerns were raised regarding how the genetic information would influence family and social life.

Psychosocial needs and interventions for young children with cystic fibrosis and their families.

This review summarises the experiences of young children and their families living with CF during the first five years of life following NBS diagnosis, as well as the options of psychosocial support available to them. We present strategies embedded within routine CF care that focus on prevention, screening, and intervention for psychosocial health and wellbeing that constitute essential components of multidisciplinary care in infancy and early childhood.

Psychological and Ethical Challenges of Introducing Whole Genome Sequencing into Routine Newborn Screening: Lessons Learned from Existing Newborn Screening.

As a psychologist and an ethicist, we have explored empirically newborn screening consent and communication processes. In this paper we consider the impact on families if newborn screening uses whole genome sequencing. We frame this within the World Health Organization's definition of health and contend that proposals to use whole genome sequencing in newborn screening take into account the ethical, practical and psychological impact of such screening. We argue that the important psychological processes occurring in the neonatal phase necessitate a clear justification that providing risk information at this stage provides a health benefit. We illustrate how research on current newborn screening can inform whole genome sequencing debates, whilst highlighting important gaps. Obtaining explicit, voluntary, and sufficiently informed consent for newborn screening is challenging, however we stress that such consent is ethically and legally appropriate and psychologically and practically important. We conclude by outling how this might be done.

Pain points in parents' interactions with newborn screening systems: a qualitative study.

BACKGROUND & OBJECTIVES: This study aims to explore and elucidate parents' experience of newborn screening [NBS], with the overarching goal of identifying desiderata for the development of informatics-based educational and health management resources. METHODS: We conducted four focus groups and four one-on-one qualitative interviews with a total of 35 participants between March and September 2020. Participants were grouped into three types: parents who had received true positive newborn screening results; parents who had received false positive results; and soon-to-be parents who had no direct experience of the screening process. Interview data were subjected to analysis using an inductive, constant comparison approach. RESULTS: Results are divided into five sections: (1) experiences related to the process of receiving NBS results and prior knowledge of the NBS program; (2) approaches to the management of a child's medical data; (3) sources of additional informational and emotional support; (4) barriers faced by parents navigating the health system; and (5) recommendations and suggestions for new parents experiencing the NBS process. CONCLUSION: Our analysis revealed a wide range of experiences of, and attitudes towards the newborn screening program and the wider newborn screening system. While parents' view of the screening process was - on the whole - positive, some participants reported experiencing substantial frustration, particularly related to how results are initially communicated and difficulties in accessing reliable, timely information. This frustration with current information management and education resources indicates a role for informatics-based approaches in addressing parents' information needs.

A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.

Numerous US states have implemented newborn screening for Krabbe disease (Krabbe NBS) as a result of legislative state mandates. While healthcare provider opinions toward Krabbe NBS have been documented, few studies have explored parental experiences and opinions regarding Krabbe NBS. Eleven families, who received a false-positive Krabbe NBS result and received genetic counseling at an institution in central Ohio, were consented to participate in semistructured interviews. Interviews explored parents' experiences throughout the NBS process and ascertained their opinions regarding Krabbe NBS. Three major themes emerged from thematic analysis: (1) improved understanding of the NBS process from a parent perspective, (2) the role of healthcare provider communication, and (3) the value of Krabbe NBS. Parents saw value in Krabbe NBS, despite many disclosing emotional distress and uncertainty throughout the NBS process. Parent experiences throughout the NBS process varied widely. Due to the expressed emotional distress, further research assessing effective communication during the NBS process is warranted. The researchers suggest additional NBS education for non-genetics healthcare providers (i.e., nurses or primary care physicians) and further participation of genetic counselors in the NBS process may benefit families with a positive Krabbe NBS result.

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

PURPOSE: While neonatal bloodspot screening (NBS) for severe combined immunodeficiency (SCID) has been introduced more than a decade ago, implementation in NBS programs remains challenging in many countries. Even if high-quality test methods and follow-up care are available, public uptake and parental acceptance are not guaranteed. The aim of this study was to describe the parental perspective on NBS for SCID in the context of an implementation pilot. Psychosocial aspects have never been studied before for NBS for SCID and are important for societal acceptance, a major criterion when introducing new disorders in NBS programs. METHODS: To evaluate the perspective of parents, interviews were conducted with parents of newborns with abnormal SCID screening results (N = 17). In addition, questionnaires about NBS for SCID were sent to 2000 parents of healthy newborns who either participated or declined participation in the SONNET-study that screened 140,593 newborns for SCID. RESULTS: Support for NBS for SCID was expressed by the majority of parents in questionnaires from both a public health perspective and a personal perspective. Parents emphasized the emotional impact of an abnormal screening result in interviews. (Long-term) stress and anxiety can be experienced during and after referral indicating the importance of uniform follow-up protocols and adequate information provision. CONCLUSION: The perspective of parents has led to several recommendations for NBS programs that are considering screening for SCID or other disorders. A close partnership of NBS programs' stakeholders, immunologists, geneticists, and pediatricians-immunologists in different countries is required for moving towards universal SCID screening for all infants.

[Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.] / Impacto de la inclusión de pruebas de segundo nivel en el programa de cribado neonatal de Cataluña y en otros programas internacionales.

OBJECTIVE: Newborn screening programmes (NBSP) have experienced a qualitative breakthrough due to the implementation of tandem mass spectrometry. However, the tests used give rise to false positives (FP) generating an excessive request for second samples with the consequent anxiety of the families. In order to avoid this problem several programmes have developed second-tier tests (2TT). METHODS: This article presents our experience in the implementation of 2TT in the NBSP of Catalonia, as well as in other international programmes. RESULTS: From 2004 to the present, 2TT tests have been developed for more than 30 diseases. The use of 2TT helps to decrease the FP rate and increase the positive predictive value (PPV). In the NBSP of Catalonia, the implementation of 2TT for the detection of methylmalonic and propionic acidemias, homocystinurias, maple syrup disease and citrulinaemia, has managed to increase the PPV to 95% and decrease the PF rate to less than 0.01%. In cystic fibrosis, the application of 2TT slightly increases PPV but with a significant decrease in the request for second samples and in the number of cases referred to clinical units. CONCLUSIONS: The introduction of 2TT in the NBSP allows to reduce considerably the FP, decreases the number of requested samples, as well as both anxiety and stress of the families, at the same time that the hospital costs are reduced and the PPV is increased, improving notably the efficiency of the NBSP.

OBJETIVO: Los programas de cribado neonatal (PCN) han experimentado un gran avance cualitativo debido a la implementación de la espectrometría de masas en tándem. Sin embargo, las pruebas utilizadas dan lugar a falsos positivos (FP) generando una excesiva solicitud de segundas muestras con la consiguiente ansiedad de las familias. Con el fin de evitar este problema diversos programas han desarrollado pruebas de segundo nivel (2TT). METODOS: En este artículo se presenta nuestra experiencia en la implementación de 2TT en el PCN de Cataluña, así como en otros programas internacionales. RESULTADOS: Desde el año 2004 hasta la actualidad se han desarrollado pruebas de 2TT para más de 30 enfermedades. La utilización de 2TT ayuda a disminuir la tasa de FP y aumentar el valor predictivo positivo (VPP). En el PCN de Cataluña, la implementación de 2TT para la detección de acidemias metilmalónicas y propiónica, homocistinurias, jarabe de arce y citrulinemia, ha conseguido aumentar el VPP a un 95% y disminuir la tasa de FP a menos del 0,01%. En la fibrosis quística la aplicación de 2TT aumenta ligeramente el VPP pero con disminución significativa de la solicitud de segundas muestras y de los casos referidos a las unidades clínicas. CONCLUSIONES: La introducción de los 2TT en los PCN permite reducir considerablemente los FP, disminuye el número de muestras solicitadas, así como la ansiedad y el estrés de las familias, a la vez que se reducen los costes hospitalarios y se aumenta el VPP, mejorando notablemente la eficiencia de los PCN.

Feasibility and acceptability of early infant screening for sickle cell disease in Lagos, Nigeria-A pilot study.

In Nigeria, about 150000 babies are born annually with sickle cell disease (SCD), and this figure has been estimated to increase by 100% by the year 2050 without effective and sustainable control strategies. Despite the high prevalence, newborn screening for SCD which allows for early prophylactic treatment, education of parents/guardians and comprehensive management is not yet available. This study explored a strategy for screening in early infancy during the first and second immunization visits, determined the prevalence, feasibility and acceptability of early infant screening for SCD and the evaluation of the HemoTypeSC diagnostic test as compared to the high-performance liquid chromatography (HPLC) gold standard. A cross-sectional study was conducted in two selected primary health care centres in Somolu local government area (LGA) in Lagos, Nigeria. Two hundred and ninety-one mother-infant pairs who presented for the first or second immunization visit were consecutively enrolled in the study following written informed consent. The haemoglobin genotype of mother-infant pairs was determined using the HemoTypeSC rapid test kit. Confirmation of the infants' Hb genotype was done with HPLC. Data were analysed with SPSS version 22. Validity and Predictive value of HemotypeSC rapid screening test were also calculated. Infant screening for SCD was acceptable to 86% of mothers presenting to the immunization clinics. The prevalence of SCD among the infant cohort was 0.8%. The infants diagnosed with SCD were immediately enrolled in the paediatric SCD clinic for disease-specific care. The HemoTypeSC test had 100% sensitivity and specificity for sickle cell disease in early infancy compared to HPLC. This study affirms that it is feasible and acceptable for mothers to implement a SCD screening intervention program in early infancy in Lagos State. The study also demonstrates the utility of the HemotypeSC rapid testing for ease and reduced cost of screening infants for SCD.

Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.

OBJECTIVES: To measure parental perceptions of child vulnerability, as a precursor to developing a population-scale mechanism to mitigate harm after newborn screening. STUDY DESIGN: Participants were parents of infants aged 2-5 months. Parental perceptions of child vulnerability were assessed with an adapted version of the Vulnerable Baby Scale. The scale was included in the script for a larger study of telephone follow-up for 2 newborn blood screening samples (carrier status for cystic fibrosis or sickle cell hemoglobinopathy). A comparison sample was added using a paper survey with well-baby visits to an urban/suburban clinic. RESULTS: Sample sizes consisted of 288 parents in the cystic fibrosis group, 426 in the sickle cell hemoglobinopathy group, and 79 in the clinic comparison group. Parental perceptions of child vulnerability were higher in the sickle cell group than cystic fibrosis group (P < .0001), and both were higher than the clinic comparison group (P < .0001). Parental perceptions of child vulnerability were inversely correlated with parental age (P < .002) and lower health literacy (P < .015, sickle cell hemoglobinopathy group only). CONCLUSIONS: Increased parental perceptions of child vulnerability seem to be a bona fide complication of incidental newborn blood screening findings, and healthcare professionals should be alert to the possibility. From a public health perspective, we recommend routine follow-up after incidental findings to mitigate psychosocial harm.

Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.

The long-term consequences and need for therapy in children with short-chain acyl-CoA dehydrogenase deficiency (SCADD) or isobutyryl-CoA dehydrogenase deficiency (IBDD) identified via newborn screening (NBS) remains controversial. Initial clinical descriptions were severe; however, while most cases identified through NBS have remained asymptomatic, clinical concerns have been raised in these populations. It is not clear whether these children are asymptomatic because of the success of NBS, or because the normal clinical course of these disorders is relatively benign. To evaluate these possibilities in our program, we evaluated the clinical outcomes of children with SCADD or IBDD identified by the Georgia NBS compared to the health status of a healthy age-matched control group. We also assessed parental anxiety during a phone interview both subjectively and objectively using the Pediatric Inventory for Parents (PIP), a validated measure of illness-related parental stress. The general health of 52 SCADD and nine IBDD cases from 2007 to 2016 were compared to the general health of unaffected control children obtained through the Centers for Disease Control and Prevention (CDC) parent listserv. We also collected statements from parents who participated in a phone survey regarding events they experienced during and after their diagnostic process. Overall, the children with SCADD and IBDD had no major health problems. There was no significant difference in cognitive development (p = .207). We identified a slightly higher incidence of reported neonatal hypoglycemia in the SCADD group; two of these occurred in the context of maternal diabetes. All interviewed parents reported extreme anxiety during the diagnostic period and current feelings of uncertainty about their child's future. PIP scores for all six caregivers who responded to that portion of the survey were consistent with some degree of parental stress. The greatest reported stressor was the unknown long-term impact of the illness. All children with SCADD and IBDD had no significant long-term sequelae. The phone interviews revealed substantial parental anxiety about the identification and follow-up of SCADD and IBDD. Based on our findings, the anxiety parents experience may be unwarranted given that we see no disease-associated morbidity or mortality in these children. Consideration should be given to the removal of these conditions from NBS panels, or if that is not possible, clinicians could educate parents on the benign nature of these diagnoses and release them from follow-up without treatment.

Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.

The BabySeq Project is a study funded by the National Institutes of Health and aimed at exploring the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of both healthy newborns and newborns who are sick. Infants were randomly assigned to receive standard of care or standard of care plus sequencing. The protocol and consent specified that only childhood-onset conditions would be returned. When 1 child was found to carry a BRCA2 mutation despite a negative family history, the research team experienced moral distress about nondisclosure and sought institutional review board permission to disclose. The protocol was then modified to require participants to agree to receive results for adult-onset-only conditions as a precondition to study enrollment. The BabySeq team asserted that their new protocol was in the child's best interest because having one's parents alive and well provides both an individual child benefit and a "family benefit." We begin with a short description of BabySeq and the controversy regarding predictive genetic testing of children for adult-onset conditions. We then examine the ethical problems with (1) the revised BabySeq protocol and (2) the concept of family benefit as a justification for the return of adult-onset-only conditions. We reject family benefit as a moral reason to expand genomic sequencing of children beyond conditions that present in childhood. We also argue that researchers should design their pediatric studies to avoid, when possible, identifying adult-onset-only genetic variants and that parents should not be offered the return of this information if discovered unless relevant for the child's current or imminent health.

Informing New Mothers about Newborn Screening Bloodspot Repositories during Postpartum Hospitalization.

PURPOSE: The primary goals of the study were to assess maternal knowledge and attitudes about the newborn screening bloodspot repository program in Texas and to evaluate the effect of a video about the bloodspot repository on the rate of parental permission to store infant bloodspots. DESIGN: This descriptive, comparative study used descriptive statistics, nonparametric tests, and multivariable analyses to describe the sample, compare groups, and determine associations between factors that influenced parents' decisions to permit state storage of infant bloodspots. RESULTS: There were 465 mothers in the study. Maternal knowledge about basic genetics and risks of genetic testing was poor, but mothers reported strong trust in the state to make good decisions about using genetic material for research. Race, ethnicity, and attitude toward research significantly influenced decisions to opt-in to the bloodspot storage program. Postpartum nurses provided the bulk of information about newborn screening and dried bloodspots, although 2/3 of respondents would have preferred to obtain this information prior to birth. CLINICAL IMPLICATIONS: Although postpartum nurses are the most common source of information about newborn screening, genuine informed consent for bloodspot storage is questionable. Information about newborn screening and bloodspot storage needs to be addressed in community venues prior to birth.

Qualitative Research on Expanded Prenatal and Newborn Screening: Robust but Marginalized.

If I told you that screening technologies are iteratively transforming how people experience pregnancy and early parenting, you might take notice. If I mentioned that a new class of newborn patients was being created and that particular forms of parental vigilance were emerging, you might want to know more. If I described how the particular stories told about screening in public, combined with parents' fierce commitment to safeguarding their children's health, make it difficult for problematic experiences with screening to translate into negative opinions about it, you would most likely be intrigued. An extensive qualitative literature documents all these social phenomena, and more, in connection with the spread of prenatal and newborn screening. So why is it, then, that commentators frequently assert that the predicted psychosocial impact of increased screening and testing associated with "the genomic revolution" has been far less severe and worthy of attention than predicted? How can or should social science "evidence" that sits outside adopted measurement conventions be considered? Why is it that summary statements about the psychosocial impact of genomic information often ignore qualitative evidence, or sideline it as relevant only for improving communication among patients, clinicians, and public health systems? This essay addresses such questions, using qualitative research on prenatal and newborn screening as a case study for illustrating the broad methodological, ideological, and dialogical issues at stake.

Parental perspectives on retention and secondary use of neonatal dried bloodspots: a Dutch mixed methods study.

BACKGROUND: Neonatal bloodspot screening (NBS) identifies conditions to offer early intervention and minimize irreversible damage. NBS policies guide a comprehensive system including processes for storage of neonatal dried blood spots (NDBS). NDBS retention and secondary use policies have been subject of public debates internationally, suggesting that the public's perceptions of NDBS policy are not always on par with existing policies. The current study aims to provide insight in relevant factors for new parents in the Netherlands regarding retention and secondary use of NDBS. These factors can be taken into account when developing or updating NDBS policies. METHODS: A mixed methods design was used combining an online survey (n = 753), focus groups (6 groups, 37 participants), and individual in-depth interviews (n = 7). The discussed topics included: parental information, obtaining informed consent, support for retention, and support for secondary use. The study population consisted of Dutch-speaking new parents: pregnant women (≥20 weeks) and/or their partner, and parents of at least one child (≤5 years). RESULTS: New parents expressed needs for easily accessible information, adequate communication on the retention and (potential) use of NDBS, clearly described safeguards for privacy, a more active consent process, regulation for the actors conducting NDBS research, and parental involvement in decisions on secondary use. Overall, participants were positive about prolonged retention and different types of secondary use if those needs were met. CONCLUSIONS: While parental involvement is a challenge, our study is an example of gauging parent's perspectives on NDBS policy and contributes to including these perspectives in the current policy discussion on longer retention. Prolonged retention could be a feasible option in the Netherlands if several prerequisites are met. Therefore, implementation studies involving parents are needed.

Preferences for aspects of antenatal and newborn screening: a systematic review.

BACKGROUND: Many countries offer screening programmes to unborn and newborn babies (antenatal and newborn screening) to identify those at risk of certain conditions to aid earlier diagnosis and treatment. Technological advances have stimulated the development of screening programmes to include more conditions, subsequently changing the information required and potential benefit-risk trade-offs driving participation. Quantifying preferences for screening programmes can provide programme commissioners with data to understand potential demand, the drivers of this demand, information provision required to support the programmes and the extent to which preferences differ in a population. This study aimed to identify published studies eliciting preferences for antenatal and newborn screening programmes and provide an overview of key methods and findings. METHODS: A systematic search of electronic databases for key terms identified eligible studies (discrete choice experiments (DCEs) or best-worst scaling (BWS) studies related to antenatal/newborn testing/screening published between 1990 and October 2018). Data were systematically extracted, tabulated and summarised in a narrative review. RESULTS: A total of 19 studies using a DCE or BWS to elicit preferences for antenatal (n = 15; 79%) and newborn screening (n = 4; 21%) programmes were identified. Most of the studies were conducted in Europe (n = 12; 63%) but there were some examples from North America (n = 2; 11%) and Australia (n = 2; 11%). Attributes most commonly included were accuracy of screening (n = 15; 79%) and when screening occurred (n = 13; 68%). Other commonly occurring attributes included information content (n = 11; 58%) and risk of miscarriage (n = 10; 53%). Pregnant women (n = 11; 58%) and healthcare professionals (n = 11; 58%) were the most common study samples. Ten studies (53%) compared preferences across different respondents. Two studies (11%) made comparisons between countries. The most popular analytical model was a standard conditional logit model (n = 11; 58%) and one study investigated preference heterogeneity with latent class analysis. CONCLUSION: There is an existing literature identifying stated preferences for antenatal and newborn screening but the incorporation of more sophisticated design and analytical methods to investigate preference heterogeneity could extend the relevance of the findings to inform commissioning of new screening programmes.

Parents' experience with positive newborn screening results for cystic fibrosis.

In Germany, screening for cystic fibrosis (CF) is part of the newborn screening since September 2016. The risk of psychological harm due to false-positive screening results is a longstanding concern. We investigated the parents' perception of the CF screening process in Bavaria and the communication after positive screening results with a questionnaire. Until August 2018, 192 children went through a final diagnostic testing after a positive CF screening result, and 105 (54.7%) families completed the questionnaire. Of these, only 30 parents obtained information about the newborn screening by a physician, despite this being mandatory in Germany. Parents being informed by a CF specialist (28.6%) about the positive screening result were more satisfied with the given information (80.0 versus 50% informed by the maternity ward), and the delay until the final diagnostic testing was shorter. More than 3 days between the information about the screening result and the diagnostic testing was too long for 77.7% of the families.Conclusion: Performing final diagnostic testing with only short delays and receiving satisfactory information is important. Therefore, parents should be informed directly by a CF center about positive screening results and only when sweat testing is possible within the next days. What is Known: • The risk of psychological harm due to false-positive screening results is a longstanding concern. • Satisfactory information about the positive CF screening result seem to reduce the parental stress. What is New: • Parents being informed directly by a CF specialist were more satisfied with the given information and the delay until the final diagnostic testing was shorter. • Our data support the concept that parents should better be informed directly by a CF specialist about positive screening results and only when sweat testing is possible within the next days to reduce parental stress.

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.

BACKGROUND AND OBJECTIVES: There is interest in applying genomic sequencing (GS) to newborns' clinical care. Here we explore parents' and clinicians' attitudes toward and perceptions of the risks, benefits, and utility of newborn GS compared with newborn screening (NBS) prior to receiving study results. METHODS: The BabySeq Project is a randomized controlled trial used to explore the impact of integrating GS into the clinical care of newborns. Parents (n = 493) of enrolled infants (n = 309) and clinicians (n = 144) completed a baseline survey at enrollment. We examined between-group differences in perceived utility and attitudes toward NBS and GS. Open-ended responses about risks and benefits of each technology were categorized by theme. RESULTS: The majority of parents (71%) and clinicians (51%) agreed that there are health benefits of GS, although parents and clinicians agreed more that there are risks associated with GS (35%, 70%) than with NBS (19%, 39%; all P < .05). Parents perceived more benefit and less risk of GS than did clinicians. Clinicians endorsed concerns about privacy and discrimination related to genomic information more strongly than did parents, and parents anticipated benefits of GS that clinicians did not. CONCLUSIONS: Parents and clinicians are less confident in GS than NBS, but parents perceive a more favorable risk/benefit ratio of GS than do clinicians. Clinicians should be aware that parents' optimism may stem from their perceived benefits beyond clinical utility.

Investigation of Predictors of Newborn Screening Refusal in a Large Birth Cohort in North Dakota, USA.

Objectives The objective of this study was to identify maternal and provider predictors of newborn screening (NBS) refusal in North Dakota between 2011 and 2014. Methods Records of 40,440 live resident births occurring in North Dakota between 2011 and 2014 were obtained from the North Dakota Department of Health and included in the study. Factor-specific percentages of NBS refusals and 95% confidence intervals were computed for each predictor. Since the outcome is rare, multivariable Firth logistic regression was used to investigate maternal and provider predictors of NBS refusal. Model goodness-of-fit test was evaluated using the Hosmer-Lemeshow test. All analyses were conducted in SAS 9.4. Results Of the 40,440 live births, 135 (0.33%) were NBS refusals. 97% of the refusals were to white women, 94% were homebirths, and 93% utilized state non-credentialed birth attendants. The odds of NBS refusals were significantly higher among non-credentialed birth attendants (p < 0.0001), homebirths (p < 0.0001), and among those that refused Hepatitis B vaccination (HBV) at birth (p = 0.047). On the other hand, odds of NBS refusals were significantly (p < 0.0001) lower among women that had more prenatal visits. Conclusions for Practice This study provides preliminary evidence of association between NBS refusal and provider type, home births, and HBV refusal. Additional studies of obstetric providers, home births and women are needed to improve our understanding of the reasons for NBS refusal to better deliver preventive services to newborns.