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Session 167 Introduction & Recap


ON WEDNESDAY:   UNDERSTANDING THE POSSIBLE IMPACT OF A PATIENT'S GENETIC VARIANTS 

You learned a workflow to integrate all you have learned so far in the first 2.5 weeks of Foundations of Medicine with real patient cases to understand what is going on in a patient at the molecular level and understand how this relates to their physiology and pathology.

Based on the twins' real-world case study, you learned how to:
    • Find helpful information about a human disorder starting in the MedGen database
    • Learn about an identified genetic variant using ClinVar
    • Explore the affected gene and gene product using Gene
    • Map the variant onto the gene product’s structure to predict impact on its structure and function
    • Use the above information to attempt to understand the patient’s disease etiology


In-between:  PRACTICE TIME!

Hopefully, you got together with your Pharm/Phys Group to meet each other and practice solving Jeff's case.


TODAY:  UNDERSTANDING GENETIC DISORDER VARIABILITY WITH CLUSTERS OF CASES

We will look at two clusters of patient cases who have related clinical or biological issues to explore different clinical presentations that patients with genetic variations may exhibit. Precisely diagnosing genetic disorders isn't often as cut-and-dry as instructors would like you to think....

And, I'll show you a really fast short-cut to finding clinically-relevant information about a patient for your time in the clinic!



Setting Expectations

We're covering a lot.....don't panic!  

  • This site is almost-a-textbook for you to be able to access now and use as you move further into your career.
  • You do NOT have to memorize anything, nor will you have to replicate or solve case-studies for the exam questions that I've submitted.  
  • I would like you to know why paying attention to a patient's genetic sequences could be really helpful for your clinical practice and where to find helpful information when you need it! 

What do you need to know - as new healthcare workers?

    • Having genetic variation data can help you validate and specify a precision diagnosis
      • A patient's specific variant can be used to diagnose a condition or identify a subtype based on the specific molecular lesion
      • Understanding the precide variant impact may be able to target preventative and/or monitoring efforts even before clinical features become evident
      • When appropriate (such as in the  chronic or acute phase of a disorder or condition), the specific molecular lesion may help to precisely select an effectively targeted therapy.
    • Known about a genetic variation can help you tailor a therapeutic outcome 
      • A patient's known variant may help to uncover an unexpected issue with a prescribed medication's effectiveness due to imact on one or more ADMET issues (absorption, distribution, metabolism, excretion & targeting processes)
      • Knowing about the existance of a critical variant in a patient may help to customize effective drug selection and optimal dosage.
The BIG Take-away Message: 
If you have a person's genetic information - you can treat the specific patient, not the disorder.

Why am I here?  To help you learn about really helpful, high-quality, up-to-date resources for use in your evidence-based patient care.


NLM/NCBI's logoWorkflow with key NCBI resources indicated

Last Reviewed: August 15, 2023