From Disparity to Equity: Building Healthier

Communities. Workshop III: Personalized

Medicine – Genomic Discovery and Family History

Andew Tsin, Ph.D. Professor

Seminar Presented at the Ninth Health Disparities Conference

Xavier University of Louisiana College of Pharmacy

March 1, 2016

Prologue

• History, basic science, overall progress

and challenges

• Clinical Implications – Dr. Holaway,

Morehouse SOM

• Pharmacogenetics – Dr. Price, U.

Arkansas

Medicine Enters a New Era

• 2003: Completion of Human Genome

Project

• 2013: Supreme Court Decision (naturally

occurring genes cannot be patented)

• Recent advances in genome sequence

technology

• Personalized (or Precision) medicine

What is Personalized Medicine?

• It is an innovative approach to medicine on

disease prevention and treatment

• It is based on gene profile, environment

and lifestyle of an individual

Why personalized medicine?

• Every person has unique variations of the human genome

• An individual’s health is the result of interactions between gene expression and environmental factors

• Why ADHD medicine works for 1/10 of preschoolers? Cancer drugs are effective for 25% of patients? Depression drugs work with 6 of 10 patents?

What is the “human genome”?

• It is a blueprint of the human body; it

determines how we look and all body

structures and functions

• Located inside 23 pairs of chromosomes;

consisting of 2.8 billion DNA bp and 22-

23k genes (about 2% of human genome)

From “Genome” to “Disease”

• New technology on genome sequencing

can reveal mutation in DNA which will lead

to confirming disease or susceptibility

• RNA-seq show how RNA expression,

translation (and also protein levels) may

reveal a person’s state of health

Examples

• Recent Genome-wide Association Study

(GWAS) of AMD patients found many

variations in the human genome

associated with AMD.

• Mutations of BRCA1 and BRCA2 genes

linked to higher risk of breast and ovarian

cancers.

Other medical conditions…

• Cancers (ex: DCIS Score)

• Cardiovascular disease

• Neurodegenerative diseases

• Diabetes

• Obesity

• Neuropsychiatric disorders

Drug development and usage

• Drug treatment and therapy specific to an individual based on his/her genome

• Example: Tamoxifen treatment is ineffective to women with a mutated CYP2D6 gene

• Pharmacogenomics: The promise of Personalized Medicine, “therapy with the right drug at the right dose in the right patient”

Advantages of precision medicine

• More informed medical decisions

• Higher probability of desired outcomes

• Reduce probability of negative side effects

• Prevention and prediction of disease

• Earlier disease intervention

• Reduce health care cost

Challenges

• Genomic data access and interpretation

• Regulatory oversight

• Patient privacy and confidentiality

• Intellectual property rights

Genomics and Health Disparities

• Alignment of genomic discovery efforts

with public health priorities may overcome

some barriers to a fair health care delivery

• Some examples:

• Asthma

• Preterm Birth

• Chronic Kidney Disease

Acknowledgement

• Support by a grant from the National

Institute of Minority Health and Health

Disparities (G12 MD 007591) of the

National Institutes of Health

References

• AAPS PharmSci 2(1): E4, 2000

• www.supremecourt.gov/opinions/12-398

• Duncan et al J. Clin. Pathol: Mol Pathol 51:237,

1998

• Fritsche, et al Nature Genetics 48: 134,2016

• Fullerton et al Public Health Genomics 15: 156,

2012

• Schmutz, et al Nature 429:365, 2004

• Wegman et al Breast Cancer Res. 9: 1, 2006