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.
Genes in Life Emergency Preparedness page includes a list of resources for patients who have been newly diagnosed with a genetic condition. This includes emergency information cards and ER recommendations.
Emergency Cards for Patients and Families
The Emergency Preparedness for Genetic and Newborn Screening Service Meeting Report(link is external) summarizes a 2007 meeting with representatives from regional genetics networks, state newborn screening programs, providers of diagnosis and confirmation services, manufacturers of equipment, medical foods, and other treatments, and various disaster response agencies. The working group developed contingency plans for newborn screening.
The Emergency Preparedness Toolkit for Genetic-Based Inherited Metabolic Disorders was developed by the SERN Consumer Alliance Emergency Preparedness Workgroup. The toolkit includes disorder-specific lists of supplies needed in case of emergency, as well as a general list of basic emergency preparedness supplies. It is available to be printed, posted, and shared: http://southeastgenetics.org/ept/
For Families — New England Consortium of Metabolic Programs The New England Consortium of Metabolic Programs brings together healthcare professionals at all levels involved in identifying and treating individuals with metabolic disorders. Consortium projects have included: developing acute illness materials for the treatment of metabolic disorders to be used by general practitioners and emergency room staff, and sponsoring social support events around New England.
NERGN COVID-19 Resources were cultivated for both healthcare providers and patients. The list includes information on telehealth sites, how to start or improve telehealth programs, and emergency medical food access information.
The Southeast Regional Genetics Network (SERN) has created emergency preparedness toolkits for several different metabolic conditions. Each one is available in both standard layout and a dyslexic-friendly layout.
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.
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.