- Metabolism 101 is a four-part self-directed CME-accredited dLearning tutorial series on Metabolic Disease Identification and Management (for the non-metabolic). Earn up to 4 free AMA PRA Category 1 Credits. Developed by Genetic Metabolic Center for Education (GMCE).
- Society of Gynecologic Oncology (SGO) Genetics Toolkit is a web-based resource about issues surrounding hereditary risk assessment and genetic testing in women with or worried about gynecologic cancers. It was developed by experts from the American Congress of Obstetricians and Gynecologists, National Society of Genetic Counselors, and patient advocacy groups Bright Pink, and Facing Our Risk of Cancer Empowered.
- Resources related to care coordination from the Catalyst Center:
- The Care Coordination Conundrum and Children and Youth with Special Health Care Needs
- Care Coordination in a Statewide System of Care: Financing Models and Payment Strategies
- Designing Evaluation Studies of Care Coordination Outcomes for Children and Youth with Special Health Care Needs
- Webinar series on Care Coordination for Children with Complex Health Care Needs, sponsored by the Lucile Packard Foundation for Children’s Health (LPFCH) and the Catalyst Center
- Pediatric to Adult Care Transition Toolkit facilitates more effective transition and transfer of young adults from pediatric to adult care, with a major focus on providing a framework for the adult care clinicians. It was developed by the American College of Physicians (ACP) and Got Transition.
- Coordinating Care for Children with Genetic Disorders Sharing Exemplary Practices from Primary and Specialty Care Providers is a report released in April, 2016, by the National Coordinating Center (NCC).
- The National Center for Care Coordination Technical Assistance includes a collection of tools and resources for pediatric clinicians, state agencies, and family advocates looking to implement care coordination.It was developed by the National Center for Medical Home Implementation.
- "Health Care Transition for Adolescents and Young Adults" is an online one-hour CME (Continuing Medical Education) course on Six Core Elements of Health Care Transition. Sponsored by Health Services for Children with Special Needs, and National Alliance to Advance Adolesent Heatlh / Got Transition.
- Utility of Genetic Testing for Breast Cancer Risk, developed at JAX Cancer Center, is a tool designed to teach how genetics can help in breast cancer risk assessment. Test your knowledge in a sample case study and see the CME courses and resources for more information.
- Scope of Practice: a statement of the American College of Medical Genetics and Genomics (ACMG) defines the Scope of Practice for the primary specialty of Medical Genetics. It serves as a revision of a 2008 ACMG Policy Statement.
- Pediatric Improvement Programs in New England:
- Coding and Reimbursement Tip Sheet for Transition from Pediatric to Adult Health Care (updated 2016). Transition readiness and self-care assessment are now billable under CPT code 99420. Read the tip sheet for information about this and other transition-related billing options. The tip sheet was developed by Got Transition and the American Academy of Pediatrics to support the delivery of recommended health care transition services in pediatric and adult primary and specialty care settings. It is aligned with the "Six Core Elements of Health Care Transition", the basic components of health care transition for youth and young adults between the ages of 12-26.
- Genetically Speaking addresses the newest basic research findings, technological advances and applications of human genetics in the evaluation, diagnosis and treatment of health conditions. Genetically Speaking is sponsored by the American Society of Human Genetics (ASHG), a leader in the education of health professionals who are not genetics specialists.
- Genetics in Primary Care Institute (GPCI), a product of the AAP, offers an archived webinar series: Integrating Genetics into Your Practice, Watch archived webinars, view presentation slides, and check out the NEW fact sheets for an easy-to-read version of information from the webinars. Topics include family history, genetic testing, genetic counseling, and more.
- Family History Tool for Pediatric Providers first-ever electronic "tablet-based" family history tool developed by AAP/GPCI and partners
- National Center for Medical Home Implementation includes Building Your Medical Home Toolkit
- Patient Education Materials Assessment Tool (PEMAT). An instrument to assess the understandability and actionability of print & audiovisual patient education materials. Provided by the Agency for Healthcare Research & Quality.
- Medical Home Portal -Reliable information and resources to help physicians and parents care for children and youth with special health care needs (CYSHCN).
- ACMG Act Sheets - The American College of Medical Genetics and Genomics provives ACT Sheets and accompanying algorithms as a great resource for clinicians looking for information on genetic conditions to help inform clinical decision making. These sheets are also now availble on your smartphone or table in the ACT Sheet Mobile App! Download at the Google Play or Apple App Store for FREE today!
- Diversity and Health Equity in the Maternal and Child Health Workforce: A Resource Guide to Key Strategies and Actions for MCH Training Programs - this guide was developed by the Division of Maternal and Child Health (MCH) Division of Workforce Development. The diversity resource is designed to share strategies intended to support MCH Training Programs in their diversity efforts.
- Educators' Guides for PKU, Galactosemia, MCADD, 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.
- Incorporating Genetics and Genomics Into Your Curriculum, What Today's Nurse Educators Need to Know- free on-line educational opportunity for nurse educators (4 CEU's will be awarded by the National League for Nursing); training modules are delivered by Dr. Susan Capasso of St. Vincent's College, in cooperation with the CT Department of Public Health. Funding was provided by HRSA through the NEGC Innovative Project program. Free Online Workshop available at www.ct.train.org.
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.
- my46 - My46, a University of Washington project, is a website where research participants who are having whole genome sequencing (WGS) can learn more about genetics and how genes affect peoples health. My46 lets people indicate their preference for what types of genetic information they want to learn.
- Pediatric Genetics web site, developed by CDC, includes individualized page for health professionals, as well as easy to read information for families.
- PHG Foundation (Foundation for Genomics and Population Health, UK) November 2010 - Public Health in an era of genome-based and personalised medicine
- New England Birth Defects Consortium
- Talking Glossary of Genetic Terms is designed to help learners at any level better understand genetic terms; produced by the National Human Genome Institute, a division of NIH (Oct 09).
- National Human Genomics Research Institute (NHGRI) Health section
This site features a new section on genetics and genomics for health professionals, as well as for patients and the public.
- Understanding Genetics Guide for Patients and Professionals - A New England Guide for Patients and Health Care Professionals (PDF)
- Journal of Nursing Scholarship Genomics Special Issue- A professional journal highlighted by the National Human Genome Research Institute.
- Newborn Screening: A National Snapshot with Implications for Emergency Preparedness; Hans Andersson, MD; May 2013 Journal of Pediatrics
- 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, Babys 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:
Tips for Getting Formula for Individuals with Inborn Errors of Metabolism, includes tips for:
- Metabolic Clinics
The tip sheet was developed by the Foods and Formula Workgroup* in Maine, who first surveyed families to learn about difficulties in filling prescriptions for metabolic formula. They also talked to pharmacists and metabolic clinics to learn from their perspectives. All then met face to face to problem-solve, the result being the tip sheet Thanks to the Workgroup for sharing these supplemental documents:
- Letter from metabolic clinic to family to introduce the survey
- Script for introduction to phone survey
- Letter to family/pharmacists/metabolic clinics to accompany the tip sheet
*Membership includes representatives from Maine Medical Partners, Eastern Maine Medical Center, Maine CDC Children with Special Health Needs, and Maine CDC WIC Nutrition Program.
- May 2016: Perspective from Sharon Terry, Genetic Alliance, published in Genetic Testing and Molecular Biomarkers. "Although GINA was forward looking, it is time to provide important protections so that personal genetic information in the possession of federal agencies would not be made public, and to guarantee confidentiality by federally funded researchers."
- Genetic Information Nondiscrimination Act (GINA) and Connecticut Protections and Direct-to-Consumer Personal Genomics Services: Information to Consider were released to the public by the Connecticut Department of Public Health Genomics Office in December 2009.
- GINA - Genetic Information Nondiscrimination Act of 2008: Information for Researchers and Health Care Professionals Dept. of Health and Human Services, April 6, 2009. While this fact sheet does not cover all of the specifics of GINA, it does provide an explanation of the statute to assist those involved in clinical research to understand the law and its prohibitions.
- Effective Healthcare Programs at the Agency for Healthcare Research and Quality (AHRQ) offers plain-language guides for clinicians and families; they recently released guides regarding use of human growth hormone for children with CF.
- Transition Toolkit - developed by Children's Hospital with NEGC support; includes 1 page descriptions of 5 metabolic conditions:
- Children with Down Syndrome: Families are more likely to receive resouces at time of diagnosis than in early childhood; report from the Government Accountability Office (Oct 2010)
- Understanding the Genetics of Deafness, A Guide for Patients and Families - Harvard Medical School, Center for Hereditary Deafness; for the Spanish translation of this guide, click on Comprendiendo la Gene'tica de la Sordera, Una Gui'a para los Pacientes y sus Familias.
- American College of Medical Genetics - ACT Sheets
- Making Care Coordination a Critical Component of the Pediatric Health System: A Multidisciplinary Framework; by Richard C. Antonelli, M.D., M.S., Jeanne W. McAllister, B.S.N., M.S., M.H.A., and Jill Popp, M.A; Overview: "It is widely acknowledged that the lack of care coordination within the U.S. health care system perpetuates the fragmentation of care, cost inefficiency, and poor health outcomes. This report proposes a framework for care coordination in a high-performing pediatric health care system..."
- Transition: Psychosocial Considerations- power point presentation (PDF) by Dr. Susan Waisbren, Children's Hospital Boston; Transition Work Group Chair; this easy-to-grasp and upbeat overview of issues related to transitioning to adult care would be valuable for teens and parents alike.
- Affordable Care Act The Affordable Care Act and Children with Special Health Care Needs: An Analysis and Steps for State Policymakers
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.