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Healthcare Provider Genomics Education Resources

Healthcare providers (HCPs) will increasingly use knowledge about genomics to meet the needs of their patients. This page provides resources targeted to HCPs and their educators. 

Healthcare Professionals' Genomics Education Week
Building on the success of the 2022 social media campaign, NHGRI is planning another event from June 5–9, 2023, focusing on healthcare provider genomics education resource dissemination.

General Genomics Education Resources

Talking Glossary of Genomic and Genetic Terms: Features nearly 250 terms explained in an easy-to-understand way by leading scientists and professionals at NHGRI.

NHGRI Image Gallery: Provides imagery related to the genomics research, people and programs of the institute.

Genomics Education Resource Center (GenomeEd): An online repository of genomics educational materials, peer-reviewed by and for genetic counselors, nurses, pharmacists, physician assistants, and physicians.

Global Genetics and Genomics Community (G3C): Collection of unfolding video genetic and genomic case studies for use with students and practicing healthcare providers learning basic genetic and genomic concepts.


  • Breast cancer risk assessment in an African American female: Grace
  • Male breast cancer risk analysis in a Caucasian male: Jeff with wife Maria
  • Colon cancer screening in a Hispanic male: Luis
  • Familial adenomatous polyposis testing in an Ashkenazi Jewish male: Gabe
  • Cancer screening incidental findings in an African American male with lung cancer: Tom


  • Cardiovascular disease and diabetes risk in an adult Native American female: Lena
  • Heart attack risk in an adult Puerto Rican female: Maria
  • Hypercholesterolemia risk in an adult Hispanic female: Larissa


  • Arrhythmia evaluation and cytochrome P450 enzyme CYP2C9 plus enzyme VKORC1 testing to guide treatment in an Ashkenazi Jewish male: Gabe #2
  • Venous thromboembolism risk evaluation and cytochrome P450 enzyme CYP2C9 plus enzyme VKORC1 testing to guide treatment in an adult Caucasian female: Jennifer
  • CYP2C19 testing in an adult African American male: Larry

Developmental Delay:

  • Autism Spectrum Disorder and Vaccines: Ethan and his mother, Dai

Pediatric Pharmacogenomics:

  • Opioid adverse reaction management of an African American child: Stephanie


  • CYP2C19 testing in a Caucasian female for depression treatment selection: Carla
  • Post-traumatic stress disorder in an adult Puerto Rican female: Peggy

Reproductive Issues:

  • Newborn screening in an older pregnant Asian female: Dai
  • Cystic fibrosis risk in a pregnant Caucasian female: Lisa


  • Sickle cell trait testing in a Caucasian male: Lucas

Genetics Home Reference

Direct-to-Consumer Genetic Testing

Direct-to-Consumer Genetic Testing FAQ for Healthcare Professionals
The Direct-to-Consumer Genetic Testing (DTC-GT) Project Group of the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) has created a Frequently Asked Questions (FAQ) resource designed for the general clinician who may see patients requesting guidance on DTC-GT.

This FAQ is intended to help healthcare professionals understand the diverse landscape of DTC-GT, the benefits and limitations of these tests and how results of DTC-GT may affect their patients’ health, wellness and medical decision making.


The Pharmacogenomics Project Group of the Inter-Society Coordinating Committee for Practitioner Education in Genomics has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.

Pharmacogenomics Educational Links

  • Clinical Pharmacogenetics Implementation Consortium (CPIC®): provides expert reviewed guidelines for drug-gene pair implementation, standardized terminology, amongst other resources.
  • PharmGKB: google-like pharmacogenetic database which allows clinicians, students and researchers to search for pharmacogenetic information on drugs, genes, variants, regulatory resources and implementation resources.
  • The Pharmacogenomics Global Research Network (PGRN): hosts weekly seminars on PGx research, implementation, and global PGx efforts. PGRN hosts an annual meeting allowing those interested in PGx to learn cutting edge science in the field.

Patient Care Resources

Tools for Collecting Family History

Locating a Genetics Clinic and Genetics Health Professionals

Clinical Trials Resources

Information About Specific Diseases

General Information
Rare Diseases

Clinical Research Resources

  • Clinical Genome Resource (ClinGen): Resource that collects phenotypic and clinical information on variants across the genome, develops consensus approaches to identifying their clinical relevance and disseminates this information to researchers and clinicians. It will advance genomics in clinical care and improve our understanding of the phenotypic and functional effects of genetic variants and their clinical value.
  • Guide to Interpreting Genomic Reports: A Genomics Toolkit (CSER Consortium; February 2017): Guide for non-genetics practitioners to explain the different types of data found in whole genome sequencing or whole exome sequencing test reports, created by the Practitioner Education Working Group of the NHGRI Clinical Sequencing Exploratory Research consortium. It explains different categories in the test report (diagnostic, incidental or carrier) and provides next steps. There is also an embedded glossary of genomic terms.

Nursing Genomics

The Nursing Genomics Project Group of the Inter-Society Coordinating Committee for Practitioner Education in Genomics has created a Nursing Genomics Frequently Asked Questions (FAQ) resource designed for three target audiences in the nursing profession: 

This FAQ was designed to answer questions regarding how nurses integrate genomics into their education and practice.

Integrating Genomics Into Clinical Practice

Method for Introducing a New Competency: Genomics (MINC)
Toolkit for integrating genomics into clinical practice

Last updated: December 19, 2023