Systems in Genetic Medicine Health Disease and Treatment

Systems in Genetic Medicine Health, Disease, and Treatment from a Systems Perspective Mattie Robinson, MS, MA INCOSE – Orlando Chapter Feb 18 2016

Outline • Overview of Medical Doctrines • Genetics Terms • A Systems View of Sickle Cell Disease • A Systems View of Cancer

The Human Body: a Collection of Systems

Treating a Human System in its Context… Microflora (gut, skin) Environment Nutrients Lifestyle …is a core philosophy in some schools of medical thought

Systems Thinking in Modern Medicine Western Medicine (United States) Traditional Chinese Medicine Folk Medicin e Holistic Medicine (Europe) Ayurveda (India)

Approaches to Modern Medicine Western Medicine (United States) • Comparatively new system of medical education and practice • Used throughout North America, Europe, and a growing number of developing countries Ayurveda (Traditional Indian Medicine) • Individualized treatment based on the balance of body fluids and other factors within each patient. • Interventions are primarily herbal, dietary, and lifestyle interventions. Eastern Medicine (Traditional Chinese Medicine) • Ancient systems of integrated medical practice • Used throughout Asia, Chinese medicine is most well known Folk Medicine • Community-based models, rely on spiritual as well as herbal and lifestyle treatments* • Practiced in a variety of socioeconomic settings, from remote tribes to enclaves within large cities (New Orleans)

Reductionism in Western Medicine Minimized the preceding models to pinpoint individual symptoms and syndromes for treatment • Practitioners see hundreds to thousands of patients with whom they have little to no personal relationship • In US, primarily focused on pharmaceutical intervention • Diagnostics and treatments are highly standardized • Only individual differences with an immediate impact are considered when prescribing treatment (ie: allergies, drug intolerances) • Metrics are used to quantitatively track therapeutic

“The greatest mistake in the treatment of diseases is that there are physicians for the body and physicians for the soul, although the two cannot be separated. ” Plato

Reductionism in Western Medicine

Medical Genetics and a New Approach in the West • The rise of molecular genetics brought a new understanding of the human system. • The current trend shifts the focus to molecular medicine • Genetic testing is relied on to: • • Characterize a patient Predict successful therapies

Genetics Terms: Genome

Genetics Terms: Chromosome

Genetics Terms: Gene

Genetics Terms: Allele Different sequences, same meaning

Genetics Terms: Mutation

Genetics Terms: Variant

Sickle Cell in a Genetic Context 11 Hemoglobin Molecules T

The Genetic Context for Sickle Cell Disease 11

Sickle Cell in a Genetic Context BCL 11 A HS 1 L & MYB TOX SAR 1 A FCPL

Key Points • A single base can be crucial to the function of a gene • Each person with SCD is genetically unique • The Hb. S allele only tells part of the story • Variation at other locations in the

Cancer Genetics • Many cancers have genetic alterations that ramp up growth signaling pathways • Because of the rapid, uncontrolled growth of cancer cells, tumors accumulate replication errors over time

Cell Signaling and Cancer Many cancers have genetic alterations that ramp up growth signaling pathways

Genetic Variation in Cancer Because of the rapid, uncontrolled growth of cancer cells, tumors accumulate replication errors over time

Genetic Variation in Cancer

Genetic Variation in Cancer

Genetic Variation in Cancer

Cancer Therapies Previously the only therapies available for cancer patients were • Chemotherapy • Radiation therapy • Surgery

Targeted Cancer Therapy • A growing knowledge of the molecular basis of cancer paved the way toward targeted therapies. • Functions that are crucial to cancer cells are

The Moving Target • • Populations of cancer cells continue to evolve as they replicate. With time, cancer cells may even “outsmart” a previously effective therapy

Key Points • Cancer is a collection of genetically unique diseases • Cancer starts with one mutated cell, but continues to evolve over time • Cell signaling is often altered in cancer cells; new cancer drugs are being developed to target these alterations

Mattie Robinson, M. S. , M. A. Johns Hopkins Hospital National Institutes of Health

Thank You micromattie@gmail. co m