Clinical Case Study Example Flyers Using NCBI Resources to streamline your genetic cases Your patient is a 40-year-old mother of two presenting with changes in bathroom habits, bleeding, and abdominal pain. She has a medical history of colonic polyps. Her family history reveals that her maternal grandmother, mother and uncle had several forms of cancers including colon, breast, and endometrium. You suspect Lynch Syndrome. Use NCBI resources to gather information useful for diagnosing your patient’s disorder. Using NCBI Resources for pharmacogenetics-based medication optimization Your patient is a 58-year-old woman who has been diagnosed with Acute Coronary Syndrome, scheduled for an angioplasty, and informed that she would need to take clopidogrel for at least three months. She mentions that her father died of a stroke while taking the drug, and is concerned. You look into pharmacogenetic influences on clopidogrel response and use the results of your patient’s genetic test to determine if and what change in the prescription is indicated. Use NCBI resources to gather information useful for optimizing your patient’s medication. NCBI Virtual Workshop Training Materials NCBI Resources for Genetics-based Clinical Decision Support Using information gleaned from a person’s genome can assist clinicians in customizing their patient’s case management and increase the likelihood of a positive outcome. While NCBI has long had resources for biologists to explore what is known about genomes, genes and genetic variations, we have also added resources designed to assist the clinical community in understanding the impact of genetic variations in their patients. Using real-world cases, this workshop will show you how to use free, high quality, online resources to assist you with your patient care. Discovering Molecular Mechanisms of Genetic Disorders with NCBI Resources The use of genetic testing in patient care is becoming more common in clinical practice. NCBI has long had resources for biologists to explore what is known about genomes, genes and genetic variations. By linking these with newer resources designed to assist the clinical community, it is now often possible to glean an understanding of how a patient’s genetic variant may be impacting their particular biology.

ClinicalTrials.gov

ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world.

ClinVar

ClinVar aggregates information about genomic variation and its relationship to human health.

Genetic Testing Registry (GTR)

Genetic Testing Registry (GTR®) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials.

MedGen

MedGen organizes information related to human medical genetics, such as attributes of conditions with a genetic contribution.

NCBI Bookshelf

NCBI Bookshelf provides free online access to books and documents in life science and healthcare. Search, read, and discover.

PubMed

PubMed® comprises more than 34 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full text content from PubMed Central and publisher web sites.

PubMed Central (PMC)

PubMed Central® (PMC) is a free full-text archive of biomedical and life sciences journal literature.

Medical Genetics Summaries

A growing collection of summaries which review genetic variants that underlie inherited conditions, affect the risk of developing a disease in the future, or influence how an individual may respond to a specific drug.

Last Reviewed: April 18, 2024