Regional models of genetic services in the United States

Kaye, Celia I.; Bodurtha, Joann; Edick, Mathew J.; Ginsburg, Susanna; Keehn, Alisha; Lloyd-Puryear, Michele A.; Doyle, Debra Lochner; Lyon, Megan; Ostrander, Robert; Taylor, Matthew R.G.

doi:10.1038/s41436-019-0648-1

Cited by 13 publications

(12 citation statements)

References 12 publications

(1 reference statement)

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“…ECHO connects specialists located in academic centers (i.e., hubs) and community primary care sites (i.e., spokes) through the use of technology to improve communication and learning (Katzman et al 2016 ). The ECHO model has demonstrated success in managing chronic conditions and now operates more than 90 hubs covering more than 45 diseases and health conditions in 16 countries (Arora et al 2011a ; b ; Kaye et al 2019 ). Arora and colleagues demonstrated that the quality of hepatitis C care provided by Project ECHO-trained PCPs was equal to that of care provided by university-based specialists (Arora et al 2011a ; b ).…”

Section: Discussionmentioning

confidence: 99%

“…As the technology matures, direct marketing of gene panels to consumers and physicians has resulted in more testing (Cornel and van El 2017 ). The cumulative effects of these trends are lengthy wait times for appointments, increased potential for misinterpretation of genetic test results, and overworked providers (Kaye et al 2019 ). An American College of Medical Genetics (ACMG) survey showed that these trends have severely impacted families needing services: 46% of families of children with special healthcare needs experienced difficulty accessing services, and 42% of families had to wait over a month on average to see a genetic service provider (Kaye et al 2019 ; Maiese et al 2019 ).…”

Section: Introductionmentioning

confidence: 99%

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Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review

et al. 2021

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Despite clinical and technological advances, serious gaps remain in delivering genetic services due to disparities in workforce distribution and lack of coverage for genetic testing and counseling. Genetic services delivery, particularly in medically underserved populations, may rely heavily on primary care providers (PCPs). This study aims to identify barriers to integrating genetic services and primary care, and strategies to support integration, by conducting a scoping review. Literature synthesis found barriers most frequently cited by PCPs including insufficient knowledge about genetics and risk assessment, lack of access to geneticists, and insufficient time to address these challenges. Telegenetics, patient-centered care, and learning communities are strategies to overcome these barriers. Telegenetics supplements face-to-face clinics by providing remote access to genetic services. It may also be used for physician consultations and education. Patient-centered care allows providers, families, and patients to coordinate services and resources. Access to expert information provides a critical resource for PCPs. Learning communities may represent a mechanism that facilitates information exchange and knowledge sharing among different providers. As PCPs often play a crucial role caring for patients with genetic disorders in underserved areas, barriers to primary care-medical genetics integration must be addressed to improve access. Strategies, such as telegenetics, promotion of evidence-based guidelines, point-of-care risk assessment tools, tailored education in genetics-related topics, and other system-level strategies, will facilitate better genetics and primary care integration, which in turn, may improve genetic service delivery to patients residing in underserved communities.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review

et al. 2021

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“…ACMG also operates the National Coordinating Center (NCC) for the Regional Genetics Networks (RGNs) [ 10 ]. In 2015, two representatives from each of the seven RGNs formed a joint committee with an expert NBSTRN workgroup called the Clinical Integration Group (CIG).…”

Section: Methodsmentioning

confidence: 99%

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts

Brower

Chan

Hartnett

et al. 2021

IJNS

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The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn Screening Translational Research Network (NBSTRN) developed the Longitudinal Pediatric Data Resource (LPDR) to capture, store, analyze, visualize, and share genomic and phenotypic data over the lifespan of NBS identified newborns to facilitate understanding of genetic disease and to assess the impact of early identification and treatment. NBSTRN developed a consensus-based process using clinical care experts to create, maintain, and evolve question and answer sets organized into common data elements (CDEs). The LPDR contains 24,172 core and disease specific CDEs for 118 rare genetic diseases, and the CDEs are being made available through the NIH CDE Repository. The number of CDEs for each condition average of 2200 with a range from 69 to 7944. The LPDR is used by state NBS programs, clinical researchers, and community-based organizations. Case level, de-identified data sets are available for secondary research and data mining. The development of the LPDR for longitudinal data gathering, sharing, and analysis supports research and facilitates the translation of discoveries into clinical practice.

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“…ACMG also operates the National Coordinating Center (NCC) for the Regional Genetics Networks (RGNs). 10 In 2015, two representatives from each of the seven RGNs formed a joint committee with an expert NBSTRN workgroup called the Clinical Integration Group (CIG). The joint committee of experts developed sets of questions and answer choices, called common data elements (CDEs), for NBS conditions that are part of the Recommended Uniform Screening Panel (RUSP).…”

Section: Development Of Common Data Elements (Cdes)mentioning

confidence: 99%

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Follow-Up Efforts

Brower¹,

Chan²,

Hartnett³

et al. 2021

Preprint

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The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn Screening Translational Research Network (NBSTRN) developed the Longitudinal Pediatric Data Resource (LPDR) to capture, store, analyze, visualize, and share genomic and phenotypic data over the lifespan of NBS identified newborns to facilitate understanding of genetic disease, and to assess the impact of early identification and treatment. NBSTRN developed a consensus-based process using clinical care experts to create, maintain, and evolve question and answer sets organized into common data elements (CDEs). The LPDR contains 24,172 core and disease-specific CDEs for 118 rare genetic diseases, and the CDEs are being made available through the NIH CDE Repository. The number of CDEs for each condition average of 2,200 with a range from 69 to 7,944. The LPDR is used by state NBS programs, clinical researchers, and community-based organizations. Case level, de-identified data sets are available for secondary research and data mining. The development of the LPDR for longitudinal data gathering, sharing, and analysis supports research and facilitates the translation of new discoveries into clinical practice.

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Regional models of genetic services in the United States

Cited by 13 publications

References 12 publications

Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review

Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts

The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Follow-Up Efforts

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