Genetics in Primary Care

Genetics in Primary Care

7 Key Roles of the Primary Care Provider

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Genetics in your Practice

Genetics in your Practice

Learn the 8 Key Components
of a Family History


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Health-related genetic information has important social, emotional, and psychological implications for individuals and families, and as such play an important role within primary care practice.

More about Genetics

​​Primary care providers are in an ideal position to evaluate and treat patients with genetic diseases. For information and practical tools to assist you in incorporating genetics into your daily practice visit the “Integrating Genetics into Your Practice” page. 
More for Practice​
​​There are a number of resources available online to assist your patients in becoming familiar with topics such as family history and genetic testing, as well as provide support. 
More for Patients​​​​

 What's New


What's New

AAP Chapters to Hold Programs on Genetics in Primary Care

Genetics education is going coast to coast! This spring, you can attend an in-person learning event, sponsored by the Genetics in Primary Care Institute, and learn how genetics impacts primary care providers. Whether you’re following up on newborn screening results or treating a patient with autism, a little knowledge of genetics can go a long way.

Five American Academy of Pediatrics Chapters have teamed up with a local healthcare organization to bring you the latest in genetics education and resources. Events range from Grand Rounds, to afternoon symposiums, to translational research conferences.
More information is available on the GPCI Visiting Professorship Program page.

Genetic Literacy in Primary Care

Genetic Literacy in Primary Care Colloquium is an initiative of the Genetic in Primary Care Institute (GPCI) and was held fall 2012 at the American Academy of Pediatrics. Its goal was to provide context for delivery of genetic related services in daily pediatric primary care practice, including prevention, diagnosis, and management.

This month, the executive summary of this colloquium and five accompanying manuscripts were published as an electronic supplement in Pediatrics. Colloquium titles are

  • “Genetic and Genomic Literacy in Pediatric Primary Care”

  • “Family History in Primary Care Pediatrics”

  • “Whole-Exome/Genome Sequencing and Genomics”

  • “Epigenetics and Primary Care"

  • “Genetic Literacy and Competency”

  • "Primary Care and Genetics and Genomics” 

Electronic Family History Tool for Pediatric Providers Now Available

The Family History Tool helps primary care providers translate family history data for use in clinical care, engages the family as an active participant, and provides a personalized clinical encounter with clinical decision support. Developed by the Genetics in Primary Care Institute, Genetic Alliance, the National Coalition for Health Professional Education in Genetics (NCHPEG), March of Dimes, Partners Healthcare (Massachusetts General Hospital), and Health Resources and Services Administration, the tool is FREE to all pediatric health providers.

Learn more about the tool in our Family Health History Tool Demo and download the slides.

AAP Guide for Families of Children with Down Syndrome

In collaboration with families, Down syndrome clinics, and doctors around the world, the American Academy of Pediatrics (AAP) has developed a special guide to help parents and families of children with Down syndrome. This document focuses on medical topics that affect physical health. Other issues can affect social and school success, which may not need doctors or other medical resources but are still important issues for children with Down syndrome.

PediaGene App

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 via both iOS and Android.

More News 


 References & Resources


Testimonials: "I received abnormal newborn screenings results, what should I do?"

Barry Thompson, MD, FAAP, FACMG
(American College of Medical Genetics)

Timothy Geleske, MD, FAAP
(American Academy of Pediatrics)

Ingrid Larson, MSN, RN, CPNP
(National Association of Pediatric Nurse Practitioners)

More Video Testimonials


 Educational Opportunities


 Upcoming Webinars


Our 2013/2014 Integrating Genetics into Your Practice educational webinar series is finished. Past webinars can be accessed on the GPCI Webinars page.



A Note from GPCI

An Update From One of Our Partners:

Genetic Alliance is thrilled to announce the launch of its newest public resource, GenesInLife.org. Genes In Life was created to help make a positive difference in the way patients and families approach health. Providers can feel confident referring patients to this site for comprehensive information that starts with basic genetic science and progresses to topics such as testing and services, how and why to collect a family health history, and how to participate in research. The information provided is designed to be easy to understand and apply and, therefore, more powerful in the hands of the patient. 


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