Children with genetic conditions in the United States: Prevalence estimates from the 2016-2017 National Survey of Children's Health.

PURPOSE: Estimating the overall prevalence of genetic conditions among children in the United States and the burden of these conditions on children and their families has been challenging. The redesigned National Survey of Children's Health provides an opportunity to examine the prevalence and burden. METHODS: We used the combined 2016-2017 National Survey of Children's Health to estimate the prevalence of genetic conditions among children aged 0 to 17 years (N = 71,522). Bivariate analyses were used to assess differences in sociodemographic characteristics, health-related characteristics, and health care utilization between children with and without genetic conditions. RESULTS: In 2016-2017, the prevalence of children aged 0 to 17 years with a reported genetic condition was approximately 0.039, roughly equating to 2.8 million children. A greater percentage of children with genetic conditions had a physical (50.9% vs 24.8%), mental (27.9% vs 5.8%), or behavioral/developmental/intellectual condition (55.6% vs 14.4%) than children without a genetic condition. Furthermore, they used more care and had more unmet health needs (7.6% vs 2.9%). CONCLUSION: This study provides an estimate of the overall prevalence of children living with genetic conditions in the United States based on a nationally representative sample. It also highlights the physical, mental, and behavioral health needs among children with genetic conditions and their unmet health care needs.

The 2019 US medical genetics workforce: a focus on clinical genetics.

PURPOSE: This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. METHODS: A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible diplomates in 2019. We conducted a descriptive analysis of responses from practicing clinical geneticists. RESULTS: Of the 491 clinical geneticists responding to the survey, a majority were female (59%) and White (79%), worked in academic medical centers (73%), and many engaged in telemedicine (33%). Clinical geneticists reported an average of 13 new and 10 follow-up patient visits per week. The average work week was 50 hours and the majority (58%) worked over half-time in clinical duties. Providers indicated that 39% of new emergency patients wait 3 days or more, and 39% of nonemergency patients wait over 3 months to be seen. Respondents were geographically concentrated in metropolitan areas and many reported unfilled clinical geneticist job vacancies at their institution of more than 3 years. CONCLUSION: With the rapid expansion of genomic medicine in the past decade, there is still a gap between genetics services needed and workforce capacity. A concerted effort is required to increase the number of clinical geneticists and enhance interdisciplinary teamwork to meet increasing patient needs.

Correction: Regional models of genetic services in the United States.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Regional models of genetic services in the United States.

PURPOSE: To outline structures for regional genetic services support centers that improve access to clinical genetic services. METHODS: A workgroup (WG) and advisory committee (AC) (1) conducted a comprehensive review of existing models for delivering health care through a regional infrastructure, especially for genetic conditions; (2) analyzed data from a needs assessment conducted by the National Coordinating Center (NCC) to determine important components of a regional genetic services support center; and (3) prioritized components of a regional genetic services support system. RESULTS: Analysis of identified priorities and existing regional systems led to development of eight models for regional genetic services support centers. A hybrid model was recommended that included an active role for patients and families, national data development and collection, promotion of efficient and quality genetic clinical practices, healthcare professional support for nongeneticists, and technical assistance to healthcare professionals. CONCLUSION: Given the challenges in improving access to genetic services, especially for underserved populations, regional models for genetic services support centers offer an opportunity to improve access to genetic services to local populations. Although a regional model can facilitate access, some systemic issues exist-e.g., distribution of a workforce trained in genetics-that regional genetic services support centers cannot resolve.

Current conditions in medical genetics practice.

PURPOSE: This study of current conditions in medical genetics practice is designed to inform public policy development and present possible solutions for improving access to genetic services. METHODS: Using the American College of Medical Genetics and Genomics Member Directory, membership directories from regional collaborative partners, listservs from national partners, and social media, a 16-question survey was electronically distributed in 2015. RESULTS: The responses of 924 genetics professionals and related providers present a snapshot of current practice and an assessment of workforce needs. More than 92% of the respondents (837/910) are involved in clinical care. Among geneticists, 60% spend more than 51% of their time in clinical care. Geneticists reported an average of 10.2 new patients per week and 7.8 follow-up visits per week. More than 62% of geneticists said that their practices were nearly full; 9.4% said that they were not taking new patients. The survey identified more than 100 geneticists and 200 genetic counselor job vacancies. Fewer than 18% of respondents reported use of telemedicine. CONCLUSION: When compared with previously published workforce studies, these data show that wait times and average new patient caseloads have increased, while the number of geneticists has not.

Healthcare Coordination and Transition for Individuals with Genetic Conditions.

This study aimed to examine insurance coverage, use of the healthcare system, satisfaction with care, transition from pediatric to adult healthcare services, and social and emotional support for individuals with genetic conditions. In June 2013, the National Genetics Education and Consumer Network surveyed US individuals with genetic conditions about their healthcare experiences. Chi square statistics were used to compare use of the healthcare system, satisfaction, social and emotional support of children (0-17 years) and adults (18 + years) with genetic conditions. There were 1895 valid responses (53.0 % individuals with genetic conditions, 47.0 % parents of these individuals). The findings suggest several potential areas to impact the quality of care received by this population. The majority of respondents reported that they had: (1) more than one health professional they considered to be their personal doctor or nurse (70.5 % children; 57.8 % adults); (2) providers that listened carefully to their needs always or most of the time (82.2 % children; 83.5 % adults); and (3) providers that usually or always involved them as partners in their care (78.4 % children; 66.6 % adults). However, several significant differences around care and support received between children versus adults and areas of need were reported. Most persons surveyed received care from a system of providers that was self- or parent- coordinated and lacked sufficient social and emotional support. Data from this study will inform practice and identifies further research needed to improve care provided to individuals with genetic conditions who require a combination of specialty and primary care.

COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance.

Newborn screening (NBS) is an essential public health service that performs screening to identify those newborns at increased risk for a panel of disorders, most of which are genetic. The goal of screening is to link those newborns at the highest risk to timely intervention and potentially life-saving treatment. The global COVID-19 pandemic led to disruptions within the United States public health system, revealing implications for the continuity of newborn screening laboratories and follow-up operations. The impacts of COVID-19 across different states at various time points meant that NBS programs impacted by the pandemic later could benefit from the immediate experiences of the earlier impacted programs. This article will review the collection, analysis, and dissemination of information during the COVID-19 pandemic facilitated by a national, centralized technical assistance and resource center for NBS programs.