Library Guides: Genetics and Inherited Diseases: A Guide: Genetics Databases and Websites

Genetic & Genomic Databases

GeneReviews® NCBI Bookshelf GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online.
MedGen (NCBI) Organizes information related to human medical genetics, such as attributes of conditions with a genetic contribution.
National Center for Biotechnology Information (NCBI)
- This link opens in a new window
The National Center for Biotechnology Information advances science and health by providing access to biomedical and genomic information. The US repository of biotechnology information, tools and downloads.
PharmGKB® (a pharmacogenomics knowledge resource) Clinical information including dosing guidelines and drug labels, potentially clinically actionable gene-drug associations and genotype-phenotype relationships. PharmGKB disseminates knowledge about the impact of human genetic variation on drug responses. HHS and is financially supported by NIH/NIGMS.

OMIM - Online Mendelian Inheritance in Man (Johns Hopkins University) This link opens in a new window OMIM is supported by a grant from NHGRI, licensing fees, and generous contributions
Search NCBI databases (GQuery) This link opens in a new window
- This link opens in a new window
Use GQuery to search bibliographic, sequence, and structural databases including Human Genome, GenBank, BLAST, and other NCBI databases. Best for very simple searches like accession numbers, organism. Searching the individual databases below will improve results.

For best results in the specific NCBI databases below, have at least the following in your search:

[title] AND [organism]
- Ex: CFTR[title] AND human[organism]
- Ex: colorectal cancer[title] AND human[organism]
[gene/protein name] AND [organism]
- Ex: CFTR[gene name] AND human[organism]
- Ex: cycstic fibrosis transmembrane conductance regulator[protein name] AND human[organism]

Contact medref@tulane.edu for NCBI help.

Nucleotide
Find sequences of DNA, mRNA. Includes GenBank, RefSeq, TPA and PDB. From the National Center for Biotechnology Information.
Protein
Find sequences of protein, mRNA. A collection of sequences from several sources, including translations from annotated coding regions in GenBank, RefSeq and TPA, as well as records from SwissProt, PIR, PRF, and PDB. From the National Center for Biotechnology Information.
Gene
Find parts of genes, parts of mRNA, parts of proteins. Gene integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide. From the National Center for Biotechnology Information.
Structure
View the 3D Structure of molecules, find things that bind proteins such as drugs, ions, and other proteins. From the National Center for Biotechnology Information.

Genetics Websites

Talking Glossary of Genetic Terms / The National Human Genome Research Institute (NHGRI) Terms and concepts used in genetic research. Specialists in the field of genetics share their descriptions of terms, and many terms include images, animation and links to related terms.
ClinGen's Tools & Resources - (NIH)-funded - clinical relevance of genes and variants for use in precision medicine ClinGen curation interfaces are currently only available to ClinGen biocurators and expert panel members. Results of these curation activities are available to the public through our Search feature.
more...less...
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
IGNITE / Implementing Genomics in Practice IGNITE disseminates the methods and best practices its members develop in order to advance the implementation of genomics in healthcare. One outlet for public distribution is the SPARK Toolbox, which provides genomic medicine resources for clinicians and researchers. Another will be the creation of the Genomic Medicine Knowledge Base (GMKB) where ideas can be shared so that everyone can begin to use this in practice, whether in community clinics or academic medical centers.
Genetic Testing Registry (NCBI) National Center for Biotechnology Information, U.S. National Library of Medicine. Find conditions and phenotypes by searching for disease names, traits, drugs, proteins and analytes.
Genome.gov / The National Human Genome Research Institute The National Human Genome Research Institute began as the National Center for Human Genome Research (NCHGR). Clearinghouse of genome information from the National Human Genome Research Institute. Funding, NHGRI Research, health, education, issues in genetics, news, careers, specialized portals for various populations (researcher, patient, student, media, etc)
Structural Biology Knowledgebase (PSI-Nature) The Structural Biology Knowledgebase (SBKB) is a free, comprehensive resource that offers a way of keeping abreast of developments both by the PSI and more generally in the fields of structural genomics and structural biology.
Genetics@nature.com / Nature Publishing Group Nature Publishing Group gateway to journals and resources in genetics.

How to Obtain Genomic Sequence for a Gene in NCBI

How to: Obtain genomic sequence for/near a gene, marker, transcript or protein

Health Care Providers' Use of Genetic Information

Improving Genetics Education in Graduate and Continuing Health Professional Education by Adam C. Berger (Editor); Samuel G. Johnson (Editor); Sarah H. Beachy (Editor); Steve Olson (Editor); Roundtable on Translating Genomic-Based Research for Health; Board on Health Sciences Policy; Institute of Medicine Read Online Free: The need to improve genetics knowledge among health care providers is clear, the best approaches to educating health care providers in a way that produces meaningful changes in clinical practice are not, especially given the competing coursework and training needs that exist in today's increasingly complex. A Roundtable on Translating Genomic-Based Research for Health of the Institute of Medicine hosted a workshop on August 18, 2014.
ISBN: 9780309316057
Publication Date: 2015-04-09

Genetics/Genomics Competency Center (G2C2) Genomic competencies are knowledge and skills that a provider needs in order to perform specific functions in genomic medicine. Competency-based medical education is an outcomes-based approach that uses competencies to organize and structure curricula.
Genomic Medicine for Health Care Providers Up-to-date genetics and genomics information related to patient management, curricular resources, new National Institutes of Health and NHGRI research activities, and ethical, legal and social issues.
The Personalized Medicine Coalition (PMC) Innovators, scientists, patients, providers and payers, promotes the understanding and adoption of personalized medicine concepts, services and products to benefit patients and the health system.
What Does it Mean to be Genomically Literate? National Human Genome Research Institute Meeting Report Genet Med. 2013 August ; 15(8): 658–663. doi:10.1038/gim.2013.14. (PubMed Central)

Ethics and Privacy

Genetic Information Nondiscrimination Act (GINA) Genetic Alliance, the Genetics and Public Policy Center at the Johns Hopkins University, and the National Coalition for Health Professional Education in Genetics through funding by The Pew Charitable Trusts. May 2010.
Genetic Alliance Genetic Alliance engages individuals, families and communities to transform health.
Center for Genetics and Society A nonprofit information and public affairs organization working to encourage responsible uses and effective societal governance of human genetic and reproductive technologies and other emerging technologies. We work with a growing network of scientists, health professionals, civil society leaders, and others.
Legislative Tracker: Louisiana Law: ACT 563 – HB 1019: Prohibits abortion based on genetic abnormality (Effective date: 06/17/2016-Delayed enforcement) An introduction to the Genetic Information Nondiscrimination Act (Effective date: 06/17/2016 - The state has agreed to delay enforcement.***)
Caplan AL (2015) Chloe’s Law: A Powerful Legislative Movement Challenging a Core Ethical Norm of Genetic Testing. PLoS Biol 13(8): e1002219. The ethical norm governing genetic counselors involved in testing and screening for genetic conditions related to reproduction has been strict neutrality since the early 1970s: doctors and counselors were obligated to simply provide people with information to help them make decisions without actually guiding them toward a particular decision. What patients do with test results in terms of deciding whether to have a child or to continue a pregnancy after a diagnosis of Down syndrome, counselors were taught, is strictly up to them.
All of Us Research Program (NIH) -- historic effort to gather data from one million or more people living in the United States to accelerate research and improve health. By taking into account individual differences in lifestyle, environment, and biology, researchers will uncover paths toward delivering precision medicine.

Guide for Genetic Consultation by Birgit Zirn; Karl Mehnert
ISBN: 9783030043445
Publication Date: 2019-05-08
SpringerLink (Medicine 2019)