Professionals

Resources for Professionals

For Primary Care Physicians (PCPs) and general practitioners
For Maternal and Child Health (MCH) Training Program Grantees
For Educators
  • Educators' Guides for PKUGalactosemiaMCADD, and Urea Cycle Disorders, were developed by the New England Consortium of Metabolic Programs in collaboration with the NEGC.
  • Genetic Education Materials for School Success (GEMSS) is a new and unique website created for teachers, therapists, counselors, parents and schools so they can best support students with genetic conditions. The site houses a library of useful tools and tips for educational and classroom support, dietary needs, field trips, sports and much more, all in one place. The aim of GEMSS is to make school a successful and positive experience for all students who have genetic conditions.
  • A Guide for Prenatal Educators- This appealing booklet was designed to make it easier for prenatal educators to effectively inform expectant parents about newborn screening. It includes "what expectant parents need to know","credible resources for parents", and "activties to incorporate". It also lists the 29 disorders recommended for newborn screening by The American College of Medical Genetics (ACMG). Children's Hospital, Boston, oversaw the development of this project, with help from HRSA.
Education Programs for Pediatric & Neurology Providers

The following two resources are provided by The National Coalition for Health Professional Education in Genetics in collaboration with Jackson Laboratory.

Genomic Tools: Chromosomal Microarray. This is a resource for developmental and behavioral pediatricians on indications for and interpretation of chromosomal microarray (CMA). 

Genomics for Child Neurology is a program for child neurology educators and clinicians that addresses risk assessment, genetic and genomic testing. and communication with families about genomic data.

 

General genetic and genomic information
Newborn Screening
  • Baby’'s First Test is the nation's educational resource center for newborn screening. It informs and empowers families and healthcare providers throughout the newborn screeningexperience. By increasing awareness, Baby’s First Test offers millions of newborns and their families a chance at a healthy start. 
  •  Newborn Screening Coding and Terminology Guide: Data Standards for Electronic Reporting - released by the U.S. National Library of Medicine in partnership with NIH, HRSA & DHHS. The goal of this guide is to promote and facilitate the use of electronic health data standards in recording and transmitting newborn screening test results.
  • Newborn Screening Brochures For information about newborn screening in the New England states, including including state-specific brochures, lists of current conditions for which there is testing (there are differences from state to state), and contact information, please click on a state below:
Genetic Information Nondiscrimination Act (GINA)
Family Health History
  • My Family Health Portrait - an online tool from the Surgeon General to help you create a personalized family health history report. 
National Centers

National Center for Medical Home Implementation. This resource is for health professionals, families, and anyone interested in creating a medical home for all children and youth.

National Coordinating and Evaluation Center: Sickle Cell Disease and Newborn Screening The Sickle Cell Disease and Newborn Screening Program (SCD-NBS) is comprised of 17 national funded community based sickle cell disease (SCD) projects.  The community-based SCD projects partner with State newborn screening programs, comprehensive sickle cell treatment centers, and health care professionals to provide support to infants screened positive for SCD and trait and their families. The projects work cooperatively and with the SCDAA-NCEC to implement a model program of SCD carrier follow-up to include notification, extended family testing, counseling and education of affected individuals and families.

National Health Care Transition Center Assisting youth and families with health care transition.

Data Resource Center for Child and Adolescent Health The purpose of The Data Resource Center for Child and Adolescent Health (DRC) is to advance the effective use of public data on the health and health-related services for children, youth and families in the United States. The DRC does this by providing hands-on access to national, state, and regional data findings as well as offering technical assistance in the collection and use of this data by policymakers, program leaders, advocates and researchers in order to inform and advance key child and youth health goals.

National Center for Family/Professional Partnerships Providing leadership in helping families of children and youth with special health care needs / disabilities and professionals partner to improve care.