American Academy of Pediatrics (AAP)
&
Genetics in Primary Care Institute (GPCI) Resources
AAP Resources
AAP.org
AAP Policy Manual
Medical Genetics in Pediatric Practice
Published May 2013
https://www.nfaap.org/netforum/eweb/dynamicpage.aspx?site=nf.aap.org&webcode=aapbks_product
detail&key=c95c0d16-6f6f-480a-8103-4a8429cb85a7
Smartphone / Tablet App
PediaGene
Based on the newly released Medical Genetics in Pediatric Practice manual, 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.
iOS: https://itunes.apple.com/us/app/pediagene-aap-genetic-screening/id667500460?ls=1&mt=8
Android: https://play.google.com/store/apps/details?id=org.aap.genetics
Policy Documents
Emergency Information Forms and Emergency Preparedness for Children With Special Health Care
Needs
Pediatrics April 2010 125:829-837
http://pediatrics.aappublications.org/content/125/4/829.full
Ethical and Policy Issues in Genetic Testing and Screening of Children
Pediatrics March 2013 131:620-622
http://pediatrics.aappublications.org/content/131/3/620.full
Folic Acid for the Prevention of Neural Tube Defects
Pediatrics 1999 104:325-327
http://pediatrics.aappublications.org/content/104/2/325.full
Health Care Supervision for Children With Williams Syndrome
Pediatrics 2001 107:1192-1204
http://pediatrics.aappublications.org/content/107/5/1192.full
Health Supervision for Children With Achondroplasia
Pediatrics September 2005 116:771-783
http://pediatrics.aappublications.org/content/116/3/771.full
Health Supervision for Children With Down Syndrome
Pediatrics July 2011 128:393-406
http://pediatrics.aappublications.org/content/128/2/393.full
Health Supervision for Children With Fragile X Syndrome
Pediatrics May 2011 127:994-1006
http://pediatrics.aappublications.org/content/127/5/994.full
Health Supervision for Children With Marfan Syndrome
http://pediatrics.aappublications.org/content/132/4/e1059.full
Health Supervision for Children With Neurofibromatosis
Pediatrics March 2008 121:633-642
http://pediatrics.aappublications.org/content/121/3/633.full
Health Supervision for Children With Prader-Willi Syndrome
Pediatrics January 2011 127:195-204
http://pediatrics.aappublications.org/content/127/1/195.full
Health Supervision for Children with Sickle Cell Disease
Pediatrics March 2002 109:525-535
http://pediatrics.aappublications.org/content/109/3/526.full
Maternal Phenylketonuria
Pediatrics August 2008 122:445-449
http://pediatrics.aappublications.org/content/122/2/445.full
Identification and Evaluation of Children With Autism Spectrum Disorders
Pediatrics November 2007 120:1183-1215
http://pediatrics.aappublications.org/content/120/5/1183.full
Management of Children With Autism Spectrum Disorders
Pediatrics November 2007 120:1162-1182
http://pediatrics.aappublications.org/content/120/5/1162.full
Newborn Screening Fact Sheets
Pediatrics September 2006 118:1304-1312
Introduction: http://pediatrics.aappublications.org/content/118/3/1304.full
Fact Sheets: http://pediatrics.aappublications.org/content/118/3/e934.full
Update of Newborn Screening and Therapy for Congenital Hypothyroidism
Pediatrics June 2006 117:2290-2303
http://pediatrics.aappublications.org/content/117/6/2290.full
Genetics in Primary Care Institute
GeneticsinPrimaryCare.org
Genetic Medicine & Primary Care Infographic
Video Testimonials by Topic
General
Family History
Genetic Testing
Educational Needs
Genetic Counseling
Access to Services
Family History Tools
Family History for Pediatric Providers: a patient-entered electronic family history and risk assessment
tool, developed in conjunction with NCPHEG, March of Dimes, Genetic Alliance and Hughes Risk Apps
(Coming Soon, Release 11/20/13)
Coding Fact Sheet for Genetics in Primary Care
How to Build a Genetic Patient Registry Handout
GPCI Webinars & Related Materials
Time Out for Genetics Webinar Series (2012)
 Integrating Genetics in Primary Care – Why Does it Matter?
 Building an Accurate Family History, Constructing a Pedigree – An Overview for
Primary Care
 Ordering the Right Tests – Genetics in Primary Care
 Genetics Evaluation, Referrals, and More – What To Do Next
 Myths of Primary Care Providers and Patients/Families Regarding Genetics –
Setting the Record Straight
 Heard About Genetic Counseling? What Does it Mean for You, Patients, and
Families?
 Genetics and Coding: What the Primary Care Provider Needs to Know
 Top 10 Genetics Resources for Pediatric Primary Care Providers
 Genetics Across the Lifespan – Putting It All Together
 Epigenetics – What Your Patients are Asking, What You Need to Know
Integrating Genetics in Your Practice Webinar Series (2013, 2014)
 Family History in Primary Care
 Overview of Genetic Testing and Screening
 Genetic Red Flags in Well-Checks
 Genetic Testing in Primary Care
 Genetic Counseling in Primary Care
 Co-Management and Transitions for Patients with Genetic Conditions
Coming Soon:
 Genetic Literacy in Primary Care Colloquium Supplement (In Press, Release 12/1/2013)
Published: Pediatrics, 2013 (Topics include: Family History, Genomics in Primary Care,
Epigenetics, Genetic Literacy and Competency, Genetics in Primary Care)
 Conclusions from the Genetics in Primary Care Institute Quality Improvement Project: Tools
and strategies for the integration of genetics in the pediatric medical home (winter 2013)
 Think Genetics! Pediatric Resident Education in the Continuity Clinic Resources (spring 2014)
 Genetics in Primary Care: CME-bearing course available on AAP PediaLink (spring 2014)
 Pediatric Family History and Risk Assessment Tool (available for free download 11/20/2013)