Policy Statements and guidelines
New Handbook! Medical Genetics in Pediatric Practice
Embodying current policy of the American Academy of Pediatrics, this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else.
Consult this one-stop problem-solver for:
- Must-have basics on genetic processes, inheritance patterns, and genetic testing
- Concise summaries of common genetic disorders
- Recognition, evaluation, diagnosis, and treatment how-to's
- Illuminating images of anomalies that may indicate genetic conditions
- Case-based examples of ethical issues
Pompe Disease Recommended by the US Advisory Panel
The U.S. Secretary of Health and Human Services' Discretionary Advisory Committee for Heritable Disorders in Newborns and Children (DACHDNC) voted to add Pompe Disease to the recommended uniform newborn screening panel (RUSP). The recommendation next goes to the Secretary for her action.
Policy Statement: Ethical and Policy Issues in Genetic Testing and Screening of Children
Published: Pediatrics, February 2013
Authors: Committee on Bioethics, Committee on Genetics, The American College of Medical Genetics, Genomics Social, Ethical, Legal Issues Committee
This new policy statement released by the American Academy of Pediatrics (AAP) and the American College of Medical Genetics (ACMG) issues recommendations on updated technologies and new uses of genetic testing and screening.
ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Authors: RC Green, JS Berg, WW Grody, SS Kalia, BR Korf, CL Martin, A McGuire, RL Nussbaum, JM O'Daniel, KE Ormond, HL Rehm, MS Watson, MS Williams, LG Biesecker
Implementing Genomic Medicine In The Clinic: The Future is Here.
Published: Genetics in Medicine, January 2013
Authors: Manolio et. al.
Public Health Action in Genomics is Now Needed Beyond Newborn Screening
Published: Public Health Genomics, September 2013
Authors: MS Bowen, K Kolor, WD Dotson, RM Ned, and MJ Khoury
The Pregnancy & Health Profile: A Risk Assessment & Screening Tool
This user-friendly, tablet-based tool assists providers and patients in identifying risk based on family history information, and informs shared decisions on prenatal testing and screening. Available for download through the National Coalition for Health Professional Education in Genetics, this tool was designed to replace paper forms and streamline the patient intake process.
Based on the newly released Medical Genetics in Pediatric Practice handbook, this app is available free to AAP members through July 1, 2014, or can be purchased for $49.99. This app is available for both iOS and Android devices.
Medicine's Future: A Genomics Curriculum for Clinicians
This CME curriculum on genomic medicine has been developed by the National Coalition for Health Professional Education in Genetics, Genetic Alliance, and the Genomics Medicine Institute at El Camino Hospital, and can be licensed and made available to hospitals and health systems.
Disease InfoSearch connects healthcare providers, researchers, and the general public with support groups, relevant and timely peer-reviewed articles, open and appropriate IRB-approved clinical trials, and general disease information. Each condition page also features an interactive tool that enables individuals to contribute to biomedical research by securely sharing their health information. For more information, please visit DiseaseInfoSearch.org and watch their video.
The new registry platform from Genetic Alliance and Private Access, Registries for All (Reg4All) aims to accelerate research and improve health for all. Learn more from the recorded webinar series hosted by Genetic Alliance.
This search engine, developed as a research project, is formatted to assist medical professionals looking for information in diagnosing difficult cases or rare diseases.
What about Privacy and Progress and Whole Genome Sequencing? Webinar Series
This webinar series from the Genetic Alliance offers one-hour, monthly installments which will be based on the structure of the recently released report from The Presidential Commission for the Study of Bioethical Issues entitled, "Privacy and Progress in Whole Genome Sequencing," and will explore recommendations and practical applications with respect to privacy in whole genome sequencing.
50 Years of Newborn Screening
The Newborn Screening campaign celebrates its 50th anniversary this year!
For more upcoming events visit our Provider Education page.
Newborn screening for autism: in search of candidate biomarkers
Published: Biomarkers in Medicine
, April 2013
Authors: GJ Mizejewski, B Lindau-Shephard, KA Pass
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