HRSA NBS Information Center Condition Information | Newborn Screening
https://newbornscreening.hrsa.gov/conditions
ACMG ACT Sheets and Algorithms contain guidelines for providers regarding positive newborn screening results, as well as specific scenarios in carrier screening, diagnostic testing, family history, secondary findings, and transitioning pediatric patients to adult healthcare.
https://www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx?hkey=9d6bce5a-182e-42a6-84a5-b2d88240c508
Advisory Committee on Heritable Disorders in Newborns and Children provides a Communication Guide for clinicians and providers to help frame the initial notification and discussion with parents about positive/abnormal/out-of-range newborn screening results.
The CDC’s Newborn Screening Quality Assurance Program (NSQAP) provides information about newborn screening quality control measures, as well as a data reporting portal.
https://www.cdc.gov/labstandards/nsqap.html
Genetic and Rare Diseases Information Center (GARD), part of the NIH National Center for Advancing Translational Sciences, contains an online encyclopedia of information about 6,500 rare disorders, each of which affect fewer than 200,000 people worldwide, as well as a few non-rare disorders. The list can be browsed from A to Z, by category, by new entries, or by keyword search. https://rarediseases.info.nih.gov/diseases
- GARD Healthcare Professionals resources include articles about ICD coding for rare diseases, tips for healthcare professionals caring for a patient with a rare disease, and a diagnosis assist tool. Providers can also call or email a GARD information specialist to help navigate to the information that may be most useful for them.
https://rarediseases.info.nih.gov/guides/pages/97/healthcare-professionals
Genetics Home Reference on MedLine Plus is a health information resource with information about more than 1,300 genetic conditions, over 1,400 genes, chromosomes, and mitochondrial DNA. It is a useful resource for both providers and patients.
https://medlineplus.gov/genetics/
The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) advises the Secretary of the US Department of Health and Human Services on newborn screening tests, technologies, policies, guidelines, and standards. The ACHDNC website provides information about its:
- Reports
- Meetings
- Newborn Screening Timeliness Goals, which outline the timeframe for each step in the newborn screening process, on the basis of data and empirical evidence for time-critical conditions included in newborn screening panels. The current goals were established in April 2015.
https://www.hrsa.gov/advisory-committees/heritable-disorders/newborn-screening-timeliness.html - Educational Resources including a communication guide and an educational planning guide for healthcare providers, in the event of a positive newborn screening result.
https://www.hrsa.gov/advisory-committees/heritable-disorders/resources - Recommended Uniform Screening Panel (RUSP), which is the list of disorders that states are recommended to include in their newborn screening programs.
https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html - How to nominate conditions for inclusion on the RUSP
- Conditions previously nominated for inclusion on the RUSP
GeneReviews is a database of genetic conditions, with each chapter written by experts in that particular condition and peer reviewed. There are currently 789 chapters, which are published online and can be searched by keyword.
https://www.ncbi.nlm.nih.gov/books/NBK1116/
The Medical Home Portal contains 55 diagnosis modules for primary care physicians, 38 pages with instructions regarding positive newborn screen results, and links to relevant scientific literature and other resources.
https://www.medicalhomeportal.org/about-portal
NewSTEPs is a program of the Association of Public Health Laboratories, funded by HRSA. It provides data, technical assistance, and training to state newborn screening programs, to assist them with quality improvement. Resources include:
- NewSTEPs COVID-19 resources, aggregated from state newborn screening programs and other partners, are arranged by topic. Each practice is listed with challenges presented by COVID-19, as well as resources and strategies to address each of the challenges.
https://www.newsteps.org/resources/covid-19 - A NewSTEPs Disorders page, which lists each of the core conditions and secondary conditions on the Recommended Uniform Screening Panel (RUSP), and displays whether each condition is time critical. For each condition, there are also links to the relevant ACMG ACT Sheets and Algorithms, as well as to resources with additional information.
https://www.newsteps.org/resources/disorders?q=disorders - NewSTEPs News, a compilation of recent news articles relating to newborn screening.
https://www.newsteps.org/news - The NewSTEPs Resource Library, which compiles information and resources about laboratory practices, follow-up procedures, quality improvement practices, policies, and other topics relating to newborn screening. It is searchable by disorder, topic, and type of resource.
https://www.newsteps.org/resources - The NewSTEPs Data Repository, a centralized, secure database where state newborn screening programs submit case data and other authorized users can access aggregate data. Some data visualizations, including state profile infographics, are available to the public.
https://www.newsteps.org/data-repository
https://www.newsteps.org/resources/data-visualizations - NewSTEPs Toolkits, which are a collection of resources and guides for addressing various issues in newborn screening. The list is in progress, and will continue to grow.
https://www.newsteps.org/resources/toolkits - NewSTEPs Webinars & Events, focused on issues related to newborn screening, are recorded and available to the public online at no cost.
https://www.newsteps.org/resources/webinars-events
The Screening Technologies and Research in Genetics (STAR-G) website includes a glossary of newborn screening-related terms, as well as fact sheets for each disorder included on the newborn screening panel. The information on the STAR-G website is updated by the Southeast Regional Genetics Network (SERN).
https://www.newbornscreening.info/
The National Organization for Rare Disorders (NORD) is a nonprofit organization with more than 300 patient organization members. NORD funds educational, advocacy, research, and patient service programs.
- The NORD Rare Disease Database includes brief introductions on various rare diseases for physicians, patients, and caregivers, which can be viewed alphabetically or searched by keyword.
https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/ - The National Organization for Rare Disorders (NORD) Online Physician Guides are available to assist primary care doctors in identifying and managing the care of patients with rare disorders.
https://rarediseases.org/for-patients-and-families/information-resources/physician-guides/
NCC Resource Repository (ReRe) is a public access database containing resources for patients, genetics providers and other healthcare providers, public health workers, educators, policymakers, and insurers. The resources were created by the National Coordinating Center, the Regional Genetics Networks, the National Genetics Education and Family Support Center, and other partners. It is searchable by topic, intended audience, and by keyword search.
https://nccrcg.org/resources/
- Blood Specimen Collection and Timeliness
- Diagnostic and Confirmatory Testing
- New Disorder Implementation
We welcome any suggestions for new resources that would benefit our partners.