Table 1.
Resources for information on genetic testing
| Source | Information provided | Website or reference |
|---|---|---|
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| ACMG: The American College of Medical Genetics and Genomics guidelines | Practice guidelines based on disease topics and policy statements regarding genetic testing. | http://www.acmg.net/ACMG/Publications/Practice_Guidelines/ACMG/Publications/Practice_Guidelines.aspx?hkey=b5e361a3-65b1-40ae-bb3e-4254fce9453a |
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| ASHG: The American Society of Human Genetics | Genetic testing educational resources | https://www.ashg.org/education/genetic_testing.shtml |
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| Centers for Disease Control and Prevention | ACCE model for evaluating genetic tests | https://www.cdc.gov/genomics/gtesting/ACCE/ |
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| Center for Disease Control and Prevention | EGAPP recommendations | https://www.cdc.gov/genomics/gtesting/egapp/recommend/index.htm |
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| Center for Disease Control and Prevention | Direct-to-consumer information | https://blogs.cdc.gov/genomics/2017/04/18/direct-to-consumer-2/ |
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| CPIC: Clinical Pharmacogenetics Implementation Consortium | Pharmacogenetics guidelines | https://www.pharmgkb.org/view/dosing-guidelines.do?source=CPIC |
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| NCBI ClinVar | Online genetic variant registry | https://www.ncbi.nlm.nih.gov/clinvar/ |
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| FDA | Pharmacogenomic biomarkers in drug labeling | https://www.fda.gov/downloads/Drugs/ScienceResearch/ResearchAreas/Pharmacogenetics/UCM545881.pdf |
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| GTR: Genetic Testing Resource | Registry of available clinical tests and YouTube tutorials | https://www.ncbi.nlm.nih.gov/gtr/ |
| https://www.youtube.com/playlist?list=PL1C4A2AFF811F6F0B | ||
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| IGNITE: Implementing GeNomics In practice Network | Consortium investigating barriers to implementation of genetic testing in clinical care | www.ignite-genomics.org |
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| MedGen | Information on genetic disease, clinical characteristics, variants and genetic testing, professional guidelines | https://www.ncbi.nlm.nih.gov/medgen/ |
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| NIH/NHGRI: The National Institutes of Health National Human Genome Research Institute | Genetic testing coverage and reimbursement, regulation, human subjects and privacy, informed consent, and legislation | https://www.genome.gov/27527652/genomic-medicine-and-health-care/ |
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| NIH/NHGRI: The National Institutes of Health National Human Genome Research Institute | Handbook and toolkit for introductory training of physicians in genomic medicine | https://www.genome.gov/27569865/2017-news-feature-genomics-handbook-provides-customized-education-for-physicians/2017-news-feature-genomics-handbook-provides-customized-education-for-physicians/ |
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| OMIM: Online Mendelian Inheritance in Man | Database of genes related to Mendelian disorders | http://omim.org/ |
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| PharmGKB: The Pharmacogenomics Knowledgebase | Comprehensive resource that curates knowledge of genetic variation impacting drug response | https://www.pharmgkb.org/ |
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| PGRN: The Pharmacogenomics Research Network | Tools to find potentially actionable variants for pharmacogenomics | http://www.pgrn.org |
| http://www.pgrn.org/tools.html | ||