Introduction
Setting Expectations
What we will cover
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- NCBI Resources that may be helpful to learn about human genetic disorders/conditions, genetic variations, genes and gene products.
- Examples of how you can use these resources in a patient’s clinical case to gather information to support patient care and communication.
What we will not cover
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- We will not cover basic genetics or genetic mechanisms of disorders- see May 23rd workshop!
- We will not cover resources to help explain any/all human disorders, for example we will not discuss pathogen-caused infections
- We will not discuss best practices for differential diagnosis, implementation of genetic information in the clinic, or production of diagnostic or therapeutic products.
Disclaimer
⇒ We cannot make recommendations on what you should do in your clinical practice.
We provide resources, data and information that you can use as part of your work.
A short history of the evolution of clinical practice
Some big NIH-funded Initiatives in the clinical genetics space
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
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 approches for preventing or treating disease - Projects/Use Cases
Personal genetics/genomics-fever has taken over!
<some examples, some dubious examples>
But seriously folks....
Using a patient's genetics to assist in High-Definition Diagnosis & Precision Treatment Selection
Why should I care about a patient's genomic sequence?
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- Case management for a patient is often initiated with a differential diagnosis based on the presenting clinical features.
- Based on laboratory tests, imaging and/or other methods, a diagnosis can be proposed and sometimes confirmed.
- But the specific molecular lesion causing the disorder in a particular patient can sometimes only be rapidly identified using genetic screening.
- Understanding the implicated specific gene and the particular variant:
- can validate the diagnosis and may further specify a sub-type of the disorder
- may explain observed variability in clinical features or severity of symptoms and speed of disease course.
- and may help to explain the exact molecular and physiological mechanism causing the disorder
- Finally, knowing the precise molecular cause for a patient's disorder may help to select a drug designed for the target, increasing the likelihood of therapeutic efficacy while limiting the potential adverse events.
- Case management for a patient is often initiated with a differential diagnosis based on the presenting clinical features.
Take-away Message: If you have the genetic information - you can treat the specific patient, not the disorder.
Example of the impact on a patient's diagnosis - precision diagnosis and therapeutic targeting
Take-away Message: By identifying the specific genetic variant causing a disorder, you can design (or select) a targeted therapy and dramatically alter patient outcomes.
Example of the impact on understanding a patient's drug responsiveness - medication optimization
Take-away Message: By identifying genetic variants that impact the ADME(T) - absorption, distribution, metabolism, excretion and/or (binding to the target) for a chosen drug, you can make ajustments to dramatically improve patient outcomes by customizing drug selection and dosage to maximize therapeutic impact and reduce possible adverse events.
Today's workshop
Focuses on how to find high-quality information to help you enhance your patient care and your patients' outcomes by learning more about specific genetic variants to:- improve your diagnostic precision
- increase the likelihood of a positive outcome due to optimizing your selection of therapeutic and dosage for your patient
Last Reviewed: April 17, 2023