Defining the Minimal Long-Term Follow-Up Data Elements for Newborn Screening.

Newborn screening (NBS) is hailed as a public health success, but little is known about the long-term outcomes following a positive newborn screen. There has been difficulty gathering long-term follow-up (LTFU) data consistently, reliably, and with minimal effort. Six programs developed and tested a core set of minimal LTFU data elements. After an iterative data collection process and the development of a data collection tool, the group agreed on the minimal LTFU data elements. The denominator captured all infants with an NBS diagnosis, accounting for children who moved or died prior to the follow-up year. They also agreed on three LTFU outcomes: if the child was still alive, had contact with a specialist, and received appropriate care specific to their diagnosis within the year. The six programs representing NBS public health programs, clinical providers, and research programs provided data across multiple NBS disorders. In 2022, 83.8% (563/672) of the children identified by the LTFU programs were alive and living in the jurisdiction; of those, 92.0% (518/563) saw a specialist, and 87.7% (494/563) received appropriate care. The core LTFU data elements can be applied as a foundation to address the impact of early diagnosis by NBS within and across jurisdictions.

A pilot study of home-based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia.

Telegenetics has shifted some genetic testing performance to the patient's own home, with the patient collecting his/her own sample. Little is known regarding the rate of test completion of such home-based genetic testing. This study compared the completion rate of home-based genetic tests before and after a reminder system was implemented. In the pre-reminder group, we reviewed medical records for patients who were seen via telegenetics and agreed to complete genetic testing using an at-home test kit. In the reminder group, a prospective analysis of the genetic test completion rate was performed taking a clinical quality improvement approach where three reminders were provided for patients who had not submitted their at-home genetic testing. Our study included 94 patients' records: 46 pre-reminders and 48 reminders. The lab received 24 patient samples (52.2%) in the pre-reminder group. In the reminder group, 30 patients returned their kits (62.5%). Despite a higher percentage of patients completing their test in the reminder group, there was no statistically significant difference between the pre-reminder and reminder groups. The rate of test completion in our pilot test was statistically similar between the two groups, but the reminder group was trending toward a higher percent of completion which may be clinically meaningful.

Newborn Screening for Cystic Fibrosis: A Qualitative Study of Successes and Challenges from Universal Screening in the United States.

Cystic fibrosis (CF) newborn screening (NBS) was universally adopted in 2009 in the United States. Variations in NBS practices between states may impact the timing of diagnosis and intervention. Quantitative metrics can provide insight into NBS programs (NBSP), but the nuances cannot be elucidated without additional feedback from programs. This study was designed to determine facilitators and barriers to timely diagnosis and intervention following NBS for CF. The median age at the first CF event for infants with CF within each state was used to define early and late states (n = 15 per group); multiple CF centers were invited in states with more than two CF centers. Thirty states were eligible, and 61 NBSP and CF centers were invited to participate in structured interviews to determine facilitators and barriers. Once saturation of themes was reached, no other interviews were conducted. Forty-five interviews were conducted (n = 16 early CF center, n = 12 late CF center, n = 11 early NBSP, and n = 6 late NBSP). Most interviewees reported good communication between CF centers and NBSP. Communication between primary care providers (PCPs) and families was identified as a challenge, leading to delays in referral and subsequent diagnosis. The misperception of low clinical risk in infants from racial and ethnic minority groups was a barrier to early diagnostic evaluation for all groups. NBSP and CF centers have strong relationships. Early diagnosis may be facilitated through more engagement with PCPs. Quality improvement initiatives should focus on continuing strong partnerships between CF centers and NBS programs, improving education, communication strategies, and partnerships with PCPs, and improving CF NBS timeliness and accuracy.

Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences.

Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.

Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation.

Public health programs in the United States screen more than four million babies each year for at least 30 genetic disorders. The Health and Human Services (HHS) Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) recommends the disorders for state newborn screening (NBS) programs to screen. ACHDNC updated the Recommended Uniform Screening Panel (RUSP) to include Pompe disease in March 2015. To support the expansion of screening for Pompe disease, the Association of Public Health Laboratories (APHL) proposed the Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) New Disorders Implementation Project, funded by the HHS' Health Resources and Services Administration (HRSA) Maternal and Child Health Bureau (MCHB). Through this project, APHL provided financial support to 15 state NBS programs to enable full implementation of screening for Pompe disease. As of April 27, 2020, nine of the 15 programs had fully implemented Pompe disease newborn screening and six programs are currently pursuing implementation. This article will discuss how states advanced to statewide implementation of screening for Pompe disease, the challenges associated with implementing screening for this condition, the lessons learned during the project, and recommendations for implementing screening for Pompe disease.

Infants with Congenital Disorders Identified Through Newborn Screening - United States, 2015-2017.

Newborn screening (NBS) identifies infants at risk for congenital disorders for which early intervention has been shown to improve outcomes (1). State public health programs are encouraged to screen for disorders on the national Recommended Uniform Screening Panel (RUSP), which increased from 29 disorders in 2005 to 35 in 2018.* The RUSP includes hearing loss (HL) and critical congenital heart defects, which can be detected through point-of-care screening, and 33 disorders detected through laboratory screening of dried blood spot (DBS) specimens. Numbers of cases for 33 disorders on the RUSP (32 DBS disorders and HL) reported by 50 U.S. state programs were tabulated. The three subtypes of sickle cell disease (SCD) listed as separate disorders on the RUSP (S,S disease; S,beta-thalassemia; and S,C disease) were combined for the current analysis, and the frequencies of the resulting disorders were calculated relative to annual births. During 2015-2017, the overall prevalence was 34.0 per 10,000 live births. Applying that frequency to 3,791,712 live births in 2018,† approximately 12,900 infants are expected to be identified each year with one of the disorders included in the study. The most prevalent disorder is HL (16.5 per 10,000), and the most prevalent DBS disorders are primary congenital hypothyroidism (CH) (6.0 per 10,000), SCD (4.9 per 10,000), and cystic fibrosis (CF) (1.8 per 10,000). Notable changes in prevalence for each of these disorders have occurred since the previous estimates based on 2006 births (2). The number of infants identified at a national level highlights the effect that NBS programs are having on infant health through early detection, intervention, and potential improved health, regardless of geographic, racial/ethnic, or socioeconomic differences.

Newborn screening timeliness quality improvement initiative: Impact of national recommendations and data repository.

BACKGROUND: Newborn screening (NBS) aims to achieve early identification and treatment of affected infants prior to onset of symptoms. The timely completion of each step (i.e., specimen collection, transport, testing, result reporting), is critical for early diagnosis. Goals developed by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) for NBS timeliness were adopted (time-critical results reported by five days of life, and non-time-critical results reported by day seven), and implemented into a multi-year quality improvement initiative (NewSTEPS 360) aimed to decrease the time to result reporting and intervention. METHODS: The NBS system from specimen collection through reporting of results was assessed (bloodspot specimen collection, specimen shipping, sample testing, and result reporting). Annual data from 25 participating NBS programs were analyzed; the medians (and interquartile range, IQR) of state-specific percent of specimens that met the goal are presented. RESULTS: The percent of specimens collected before 48 hours of life increased from 95% (88-97%) in 2016 to 97% (IQR 92-98%) in 2018 for the 25 states, with 20 (80%) of programs collecting more than 90% of the specimens within 48 hours of birth. Approximately 41% (IQR 29-57%) of specimens were transported within one day of collection. Time-critical result reporting in the first five days of life improved from 49% (IQR 26-74%) in 2016 to 64% (42%-71%) in 2018, and for non-time critical results from 64% (IQR 58%-78%) in 2016 to 81% (IQR 68-91%) in 2018. Laboratories open seven days a week in 2018 reported 95% of time-critical results within five days, compared to those open six days (62%), and five days (45%). CONCLUSION: NBS programs that participated in NewSTEPs 360 made great strides in improving timeliness; however, ongoing quality improvement efforts are needed in order to ensure all infants receive a timely diagnosis.

A qualitative focus group study of perceived barriers and benefits to exercise by self-described exercise status among older adults living with HIV.

OBJECTIVES: Although exercise interventions have been shown to improve health outcomes among older people with HIV (PLWH), this population remains highly sedentary. The purpose of this study was to examine the differences in perceived barriers and benefits of exercise among older PLWH by self-identified exercise status. DESIGN: Five focus groups were formed among PLWH: two groups of exercising men, two groups of non-exercising men and one group of women (mixed exercisers and non-exercisers). Themes were analysed in relation to the social-ecological model, utilising the constant comparative approach. SETTING: Patients were recruited from an academic medical centre, HIV clinic and community locations. PARTICIPANTS: PLWH aged 50 or older, diagnosed with HIV for at least 2 years, with no other health conditions that would preclude exercise. PRIMARY AND SECONDARY OUTCOME MEASURES: Determine facilitators, barriers and the ideal environment for exercise or physical activity and determine whether these differ between older PLWH who self-identify as exercisers or non-exercisers. RESULTS: Among 25 men (11 exercisers and 14 non-exercisers) and four women (three non-exercisers and one exerciser), non-exercisers mentioned fewer benefits of exercise (n=46) than exercisers (n=75). Exercisers emphasised positive reinforcement, positive mood change and increased energy as benefits of exercise; interpersonal benefits of exercise were also discussed twice as often by exercisers than by non-exercisers. Non-exercisers emphasised barriers to exercise including lack of motivation, lack of self-efficacy and a negative perception of gym culture. Non-exercisers identified the need for age-appropriate activities as a feature of an ideal exercise environment. Both groups identified time, cost and health-related challenges as barriers to exercise. CONCLUSIONS: Unique exercise barriers and benefits by self-identified exercise status provide important insights into the design of future interventions to initiate and maintain exercise. TRIAL REGISTRATION NUMBER: NCT02404792; Results.

Turning disability into ability: barriers and facilitators to initiating and maintaining exercise among older men living with HIV.

Physical activity reduces the risk for comorbidities, but little is known about barriers to exercise among older adults living with HIV. Three focus groups were conducted among 19 adults living with HIV, aged ≥ 50 years, who were enrolled in or recently completed a supervised exercise intervention. Sessions were recorded, transcribed, and coded first using inductive methods. All participants were male, and the majority were white, non-Hispanic; 53% were receiving disability benefits. All had suppressed HIV infection on antiretroviral therapy, with almost 20 years since HIV diagnosis. Participants noted a lack of self-efficacy, motivation, and physical limitations that contributed to a sense of "disability" as barriers to exercise prior to the intervention. Through social support and improvements in self-efficacy, participants were motivated to start and continue exercising. Perceived sense of disability may impede (or interfere with) exercise initiation and maintenance; self-efficacy and social support may facilitate exercise maintenance in older adults living with HIV.

Analyzing Patterns in NewSTEPs Site Review Recommendations: Practical Applications for Newborn Screening Programs.

The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) conducts non-regulatory site reviews of state newborn screening programs in the US with the goal of providing comprehensive reports and recommendations to support quality improvements within the system. A detailed coding and qualitative analysis of data extracted from reports of seven programs visited between 2012 and 2017, of thirteen pre-site visit surveys completed by state newborn screening programs, and of information from interviews conducted with three site review experts revealed four common themes that exist across states within the national newborn screening system. These themes include opportunities to implement improvements in: (1) communications inside and outside of the state newborn screening program, (2) education, (3) information technology, and (4) operations. The cross-cutting recommendations provided by NewSTEPs within the comprehensive site review reports may prove valuable for all state programs to consider and to incorporate as quality improvement measures in the absence of a full site review. The analysis of the site review process and recommendations identified important opportunities for improvement, many of which were previously unknown to be common across programs, and also provided affirmation of known challenges.

Development of National Newborn Screening Quality Indicators in the United States.

Newborn screening is a public health program facilitated by state public health departments with the goal of improving the health of affected newborns throughout the country. Experts in the newborn screening community established a panel of eight quality indicators (QIs) to track quality practices within and across the United States newborn screening system. The indicators were developed following iterative refinement, consensus building, and evaluation. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) implemented a national data repository in 2013 that captures the quality improvement metrics from each state. The QIs span the newborn screening process from collection of a dried blood spot through medical intervention for a screened condition. These data are collected and analyzed to support data-driven outcome assessments and tracking performance to improve the quality of the newborn screening system.

NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center.

As newborn screening (NBS) programs in the US implement expanded screening panels, utilize emerging technologies and identify areas for improvement, the need to establish and maintain a community engagement based national technical assistance center becomes apparent. The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs)-a program of the Association of Public Health Laboratories (APHL) in partnership with the Colorado School of Public Health (ColoradoSPH), offers expertise in newborn screening program development, member connection, data analysis, and program evaluation. NewSTEPs provides a secure online data repository designed to collect comprehensive data on newborn screening programs in three strata: state profiles (description of each state program including program hours, fees, and disorders screened), quality indicators (metrics of program performance encompassing screening accuracy and timeliness) and NBS public health surveillance case definitions. NewSTEPs was created in 2012 under a cooperative agreement with the United States Department of Health and Human Services (HHS), Health Resources and Services Administration (HRSA), Maternal and Child Health Bureau (MCHB). Successful activities of NewSTEPs have resulted in the establishment of a technical assistance resource center and the organization of a network of newborn screening experts. In addition, NewSTEPs coordinates efforts with other federally funded programs in order to maximize resources and to ensure a unified approach to data collection and information sharing.

Drivers Motivating Community Health Improvement Plan Completion by Local Public Health Agencies and Community Partners in the Rocky Mountain Region and Western Plains.

CONTEXT: There are numerous drivers that motivate completion of community health improvement plans (CHIPs). Some are more obvious and include voluntary public health accreditation, state requirements, federal and state funding, and nonprofit hospital requirements through IRS regulations. Less is known about other drivers, including involvement of diverse partners and belief in best practices, that may motivate CHIP completion. OBJECTIVE: This research investigated the drivers that motivated CHIP completion based on experiences of 51 local public health agencies (LPHAs). DESIGN: An explanatory mixed-methods design, including closed- and open-ended survey questions and key informant interviews, was used to understand the drivers that motivated CHIP completion. Analysis of survey data involved descriptive statistics. Classical content analysis was used for qualitative data to clarify survey findings. SETTING: The surveys and key informant interviews were conducted in the Rocky Mountain Region and Western Plains among 51 medium and large LPHAs in Colorado, Kansas, Montana, Nebraska, North Dakota, South Dakota, Utah, and Wyoming. PARTICIPANTS: More than 50% of respondents were public health directors; the balance of the respondents were division/program directors, accreditation coordinators, and public health planners. MAIN OUTCOME MEASURES: CHIP completion. RESULTS: Most LPHAs in the Rocky Mountains and Western Plains have embraced developing and publishing a CHIP, with 80% having completed their plan and another 13% working on it. CHIP completion is motivated by a belief in best practices, with LPHAs and partners seeing the benefit of quality improvement activities linked to the CHIP and the investment of nonprofit hospitals in the process. Completing a CHIP is strengthened through engagement of diverse partners and a well-functioning partnership. CONCLUSION: The future of CHIP creation depends on LPHAs and partners investing in the CHIP as a best practice, dedicating personnel to CHIP activities, and enhancing leadership skills to contribute to a synergistic partnership by effectively working and communicating with diverse partners and developing and achieving common goals.

Priorities in Fertility Decisions for Reproductive-Aged Cancer Patients: Fertility Attitudes and Cancer Treatment Study.

PURPOSE: The Fertility Attitudes and Cancer Treatment Study (FACTS) aims at better understanding the reasons and priorities of young adult cancer patients making decisions for fertility preservation (FP). Identifying the factors that center around a patient's fertility decisions will support the development of educational tools for providers and improve clinical care to meet patients' reproductive needs. METHODS: An exploratory qualitative study was conducted of 27 newly diagnosed male and female cancer patients who had presented for an oncofertility consultation. Interviews lasted ∼30 minutes and were transcribed verbatim. A thematic analysis was conducted to explore the factors driving decisions for future fertility. Themes were grouped to address the following topics: reasons for/against FP, patient priorities, informational needs, support, wellness, and satisfaction with information. Strength of the theme was determined by examining the frequency of a response. RESULTS: Patients who chose FP versus those who did not choose FP and men versus women proved to be more similar than different in their reasoning, priorities, and informational needs for FP decisions. Patients who chose FP identified a "concern for future fertility" as a top reason to do so and "parenthood" as a top priority. For those who did not choose FP, "cancer treatment" was identified as their top priority. For patients identifying financial barriers, 50% of them were able to overcome this to pursue FP. CONCLUSIONS: Reproductive-aged patients diagnosed with a new cancer should be referred to a reproductive specialist and provided the opportunity to come to a fertility decision on their own before initiating cancer treatment.

Integrating primary care and behavioral health with four special populations: Children with special needs, people with serious mental illness, refugees, and deaf people.

Special patient populations can present unique opportunities and challenges to integrating primary care and behavioral health services. This article focuses on four special populations: children with special needs, persons with severe and persistent mental illness, refugees, and deaf people who communicate via sign language. The current state of primary care and behavioral health collaboration regarding each of these four populations is examined via Doherty, McDaniel, and Baird's (1996) five-level collaboration model. The section on children with special needs offers contrasting case studies that highlight the consequences of effective versus ineffective service integration. The challenges and potential benefits of service integration for the severely mentally ill are examined via description of PRICARe (Promoting Resources for Integrated Care and Recovery), a model program in Colorado. The discussion regarding a refugee population focuses on service integration needs and emerging collaborative models as well as ways in which refugee mental health research can be improved. The section on deaf individuals examines how sign language users are typically marginalized in health care settings and offers suggestions for improving the health care experiences and outcomes of deaf persons. A well-integrated model program for deaf persons in Austria is described. All four of these special populations will benefit from further integration of primary care and mental health services.

Compassion fatigue, burnout, and compassion satisfaction among Colorado child protection workers.

OBJECTIVE: The goal of this study was to understand better the risk of compassion fatigue (the trauma suffered by the helping professional) and burnout (emotional exhaustion, depersonalization, and reduced sense of personal accomplishment), and the potential for compassion satisfaction (the fulfillment from helping others and positive collegial relationships) among Colorado county child protection staff using the Compassion Satisfaction/Fatigue Self-Test [Figley, C. R., & Stamm, B. H. (1996). Psychometric review of Compassion Fatigue Self-Test. In B. H. Stamm (Ed.), Measurement of stress, trauma, and adaptation (pp. 127-130). Lutherville, MD: Sidran Press]. An additional goal was to test the relationship of these three constructs to each other. METHOD: A self-report instrument developed by Stamm and Figley was used to measure the risk of compassion fatigue and burnout and the potential for compassion satisfaction among 363 child protection staff participating in a secondary trauma training seminar. RESULTS: Participants were significantly more likely to have high risk of compassion fatigue, extremely low risk of burnout, and good potential for compassion satisfaction. Participants with high compassion satisfaction had lower levels of compassion fatigue (p=.000; mean=35.73 high compassion satisfaction group, mean=43.56 low group) and lower levels of burnout (p=.000; mean=32.99 high compassion satisfaction group, mean=41.69 low group). CONCLUSION: Approximately 50% of Colorado county child protection staff suffered from "high" or "very high" levels of compassion fatigue. The risk of burnout was considerably lower. More than 70% of staff expressed a "high" or "good" potential for compassion satisfaction. We believe compassion satisfaction may help mitigate the effects of burnout.