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Session 164 Introduction

This session is about integrating all that you've learned with this developing field of clinical/personal genetics....

Personal genetics/genomics-fever has taken over!
        <some examples, some really dubious examples>
But seriously folks....
Clinical implementation of genetics and integrated molecular biology are now becoming incredibly important in all sorts of fields of practice!

Why should you as new healthcare workers care about a person's genomic sequence?

  • Discovering the existence of a known variant-of-interest:
    • can validate the diagnosis and may further specify a sub-type of the disorder
    • may help to explain the exact molecular and physiological mechanism causing the disorder 
    • may explain observed variability in clinical features or severity of symptoms and speed of disease course.
    • may help selecting and optimizing a therapy for a disorder - increasing the likelihood of efficacy while limiting the potential adverse events.
Take-away Message:  If you have a person's genetic information - you can treat the specific patient, not the disorder.

How did we get here?  From pea plants to punnet squares to actual patient care!

Some revolutionary NIH-funded projects for exploring human genetics and health:
Undiagnosed Diseases Network - development of systematic approaches to understanding and diagnosing the undiagnosed - Case studies are published online and in peer-reviewed scientific journals

Cancer Moonshot - development of approaches for early detection and targeted drugs, for example the development of companion genetic diagnostics/targeted chemotherapies - NCI Cancer Research Data Commons

Precision Medicine Initiative/AllofUs - a community research program to learn  how a person's genetics, environment, and lifestyle can impact human health and determine best approaches for preventing or treating disease - Projects/Use Cases  |  Research Hub

But what does this have to do with NCBI?  (i.e. why am I here?)

We are a “center” within the NLM responsible for creation, curation and maintenance of medical and scientific databases and other things…
NCBI as a division of NLM logo
We receive, create, archive & make available biomedical information, as well as perform computational biology & IT systems research… Schema of NCBI resources around major categories
We really aspire to help make sense and promote good use of the information!

 

Because we (NCBI) store and make accessible all of this varied biological and biomedical data, you can easily and quickly access all of those decades of information to help you perform evidence-based clinical practice.    ('Ever heard of PubMed?  Yeah, that's us too....)

In these sessions, I will show you how to use NCBI resources understand what is happening in a patient who has a genetic variation and may be exhibiting symptoms of a disorder. In these cases you will also see why knowing this may help you be able to really optimize the treatments that you select for them to maximize effectiveness and minimize adverse effects.

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

We will 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 a real-world case study, you will learn 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!

You should "get together" in person in the library, at coffee shop, on The Mall, in someone's living room or even on Zoom.....  This is the first of many, many, many Pharm/Phys Group events.

You get to practice your own case, so that you are ready to integrate what you've learned on Wednesday with more real patient case discussions on Friday.
DO NOT SPEND MORE THAN AN HOUR ON THIS!!!

FRIDAY:  UNDERSTANDING GENETIC DISORDER VARIABILITY WITH A CLUSTER OF CASES

We will look at a cluster 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 going to cover a lot today and Friday.....don't panic!
  • I have created almost-a-textbook here 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 we will not cover today, although have provided some helpful reference information.
    • We will not specifically go over basic genetics or genetic principles.
        • You should have already heard all about that, but you will using this information!
    • We will not discuss high-throughput analysis of variants.
        • Today is about introducing how a particular patient's care might be influenced based on the results of a genetic test result.
    • We are focusing on human genetic variants, thus will not cover resources to help explain any/all human disorders.
        • But some people think there is genetic relevance to ANY disease or disorder.
    • I can't tell you exactly what you will need to know or what to do in your clinical practice.
        1. I'm a PhuD, not a MuD.
        2. The world of human genetics and clinical practice is rapidly changing, so anything you learn today will be a great help in adapting to the next phases of rapidly advancing knowledge & technology.

Last Reviewed: August 22, 2023