1. VSee Telehealth Secrets Conference 2018
William P Stanford, MD, PhD, FACP
Genomicity, CEO
Genomic and Personalized Medicine:
An Overview
2. VSee Telehealth Secrets Conference 2018
Genomic and Personalized Medicine:
An Overview
Definitions
What’s new in genomic and personalized medicine?
Personalized Medicine: Who’s going to want it?
Personalized Medicine: What are the obstacles?
3. VSee Telehealth Secrets Conference 2018
Genomic and Personalized Medicine:
An Overview
Definitions
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Definition: Genomic Medicine
Genomic Medicine: An emerging medical
discipline that uses genetic information to
customize a patient’s health maintenance and
treatment plan
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Definition: Personalized Medicine
Personalized Medicine: The concept of using
genomic along with an individual patient’s other
molecular, biologic, and physiologic information,
along with knowledge of the individual’s
environment, to customize treatment plans to
maintain health, assist in the early diagnosis and
treatment of disease, and enhance longevity.
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Application of new technologies with
unprecedented success
VSee Telehealth Secrets Conference 2018
Technological advances
occurring at light speed
Costs rapidly
decreasing
Ethics a major concern,
will lag the technological
10. What’s New? Multiple Game-Changing
Technological Advancements
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• Advances in Basic Science and the Understanding of Disease Processes
• Rapid Nucleotide Sequencing, both DNA and RNA
• Epigenome Mapping
• Gene Editing with CRISPR/Cas 9, Individualized Cancer Therapy with CAR-
T
• Stem Cell Technology
• Big Data, Machine Learning, Artificial Intelligence
• Wearables, Telehealth
11. VSee Telehealth Secrets Conference 2018
Genomic and Personalized Medicine:
An Overview
Personalized Medicine: Who’s going to want it?
12. Personalized Medicine:
Who’s going to want it?
Healthy People:
Those that prefer a proactive approach to
healthcare and longevity
Persons that take medications on occasion--
pharmacogenomics
Elite athletes--prediction of athletic
performance and sports injuries
Concern for inherited disease based on family
history
Prenatal testing
Concern for environmental exposures
Wearables that will identify concerning trends
Diet and exercise customization for the
individual based on genome, microbiome and
epigenome
VSee Telehealth Secrets Conference 2018
13. Personalized Medicine:
Who’s going to want it?
Sick People:
Cancer patients--sequencing of the tumor
genomes to identify the precise
derangements and guide treatment
Patients that have simple genetic defects
(Mendelian inheritance) that will be cured
with gene editing. e.g. sickle cell disease,
cystic fibrosis
Patients with certain infectious diseases, for
which relatively simple genetic manipulations
of some of their cells will lead to decreased
morbidity and even cure, e.g. HIV
Stem cell treatments using inducible
pluripotent stem (iPS) cells will be used to
treat a multitude of conditions including
spinal cord injuries and organ repair
Patients that need medications for their
disease—pharmacogenomics to predict
efficacy, guide dosing, and predict side-effects
Solve “mystery illnesses”
Define the actual molecular and cellular
derangements that lead to complex chronic
disease for purposes of precision guidance of
treatments, e.g. atherosclerosis and
neurodegenerative disorders such as
Alzheimer’s dementia
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14. Personalized Medicine:
Who’s going to want it?
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Payors:
Insurance companies that want to avoid paying for treatments that have no chance at efficacy in
an individual patient or would lead to costly complications
Insurance companies that would for example, seek to pay for stem cell therapy rather than organ
transplant or joint replacement
Insurance companies seeking to deny coverage
The government (CMS/Medicare) seeking to have people stay functional and working into their
“golden years”
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Genomic and Personalized Medicine:
An Overview
Personalized Medicine: What are the obstacles?
16. Personalized Medicine:
What are the obstacles?
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Privacy:
Genetic Information Nondiscrimination Act (GINA)
GINA prevents discrimination on the basis of genetic information in regards to
health insurance and employment.
GINA does not prevent discrimination in regards to life and long-term disability
insurance.
Who is going to own, control and access your genetic information and what will
they use it for other than healthcare?
17. Personalized Medicine:
What are the obstacles?
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Cost:
Who is going to pay for testing?
How will we integrate genomic information and the needed decision support into
the EHR?
Who is going to educate physicians and patients?
Well designed longitudinal studies will be needed to demonstrate value before
payers will sign on
Machine learning and AI along with massive computing capability needed to fully
leverage genomic and personalized medicine
18. Personalized Medicine:
What are the obstacles?
VSee Telehealth Secrets Conference 2018
Ethics:
Designer babies
Germline editing
Initial access primarily to those that can afford it