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Updated: Jul 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Educating health-care professionals about genetics and genomics
Alan E Guttmacher1, Mary E Porteous, Joseph D McInerney
1National Human Genome Research Institute, Building 31, Room 4B09, Bethesda, MD 20892-2152, USA. guttmach@mail.nih.gov
The genome era has transformed biomedical research but not yet clinical practice. Improving healthcare providers' genomic literacy is essential for integrating genomic medicine into patient care.
Area of Science:
- Genomics and Genomic Medicine
- Biomedical Research
- Clinical Practice
Background:
- The 'genome era' has revolutionized biomedical research through advances in genetics and genomics.
- Despite research impact, the genome era has not significantly reached most clinicians.
- Genomic medicine requires a shift from research applications to clinical integration.
Approach:
- Describe the necessary knowledge, skills, and attitudes for genomic medicine.
- Outline strategies for integrating genomic medicine education into the healthcare community.
- Focus on bridging the gap between genomic research and clinical application.
Key Points:
- Genomic advances include human genome sequencing, haplotype mapping, open-access databases, and cost-effective genotyping.
- Genomic literacy among healthcare providers is crucial for clinical adoption.
- Successful integration necessitates specific educational and attitudinal changes.
Conclusions:
- Genomic medicine's clinical impact hinges on enhanced genomic literacy in healthcare professionals.
- Integrating genomic knowledge into clinical practice requires targeted educational approaches.
- The transition necessitates a proactive strategy to prepare the healthcare community for genomic medicine.
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