Conclusion
In today's workshop you learned to:
- Find resources for genetic variant-related disorders, conditions and traits ⇒ Start in MedGen!
- Get information about specific genetic-variant influences on drug response ⇒ Start in MedGen and/or Medical Genetics Summaries
- Identify a genetic test you could order ⇒ Search the Genetic Testing Registry
- Learn more about a patient’s variant? ⇒ Start with ClinVar!
What is the future of clinical genetic testing & when?
The future is NOW!
- Direct-to-Consumer Tests (mostly ancestry, but now some FDA approved health-related indicators)
- Clinical specialties:
- Oncology (cancer subtyping & chemotherapy selection)
- Cardiology (diagnosis & drug selection/dosing)
- OB/GYN & Pediatric Specialists
- Parent carrier screening
- Prenatal screening or diagnostic testing
- Baby’s First Test and genetic validation for inborn errors of metabolism
- Infectious Disease (agent identification & microbial antibiotic sensitivity assessment)
- Some pharmacogenetics for therapeutic selection/dosing in various specialties
NOW-ish:
- Pre-op testing panel (bleeding issues, anesthesia sensitivity, etc.)
- More clinical genetic testing: both diagnosis & some proactive screening in primary care!
- Integration of relevant data into electronic health records (EHRs)
- Direct reporting of results to patients (Swiss Group - QR codes!)
- R&D in progress:
- pharmacogenetic algorithms for drug dosing
- prediction for pain medication responsiveness
- prediction for specific adverse event susceptibility
What to keep an eye on….
- Practice Guidelines in MedGen and elsewhere...
- Genetic testing recommendations - check with your institution...
- Check back for updates in ClinVar!
Thanks for participating today!
NCBI has a lot of resources to help the clinical and scientific research community!
- NCBI provides resources for the research community
- dbGaP
- dbSNP
- GEO
- BioProject
- PubChem
- and all those sequence databases
- Workshop on May 23 (applications due by May 8): "Discovering Molecular Mechanisms of Genetic Disorders with NCBI Resources": Understanding the potential impact of a genetic variant on the patient’s physiology and phenotype, including assessing a variants possible impact on biomolecular structure/function.
A link to a listing of Healthcare Professions-focused Educational and Family Health History resources
GenomeEd - a free repository of high-quality genomics educational resources for group instruction or self-directed learning by healthcare professionals and educators
Genomic Health Care Simulations (G3C) - a bilingual collection of interactive cases that demonstrate how genetics and genomics link to health and illness.
Keep an eye on our webpages & come back to visit often
as we are continually updating and improving our resources!You can also follow us on social media for announcements of new resources, features, improvements and outreach events:
NCBI Insights Blog
NCBI Outreach Events Calendar - with more Workshops, Webinars, Codeathons & Conference announcements
NCBI YouTube Channel & Playlists - with Tutorials, recorded Webinars and more!
NCBI's Twitter Feed
NCBI's LinkedIn Page
NCBI on Facebook
NCBI's GitHub site
Last Reviewed: April 18, 2023