Public Health Genomics and Translational Research Zach Adams, Emily - PowerPoint PPT Presentation

Public Health Genomics and Translational Research Zach Adams, Emily Dlugi, Varun Rajagopalan

Goals ○ Draft and distribute a health survey to the Lancaster County Plain communities ● Including the collection of genetic samples ○ Design a course in Public Health Genomics (PBH471) for Spring 2014 that will involve students in this work

Sampling Populations Lancaster Lancaster Old Order Amish Old Order Mennonite Lancaster Fancy (30,000-50,000) (8,000-12,000) (450,000) Survey Sample of Survey Sample of Old Survey Sample of Old Order Amish Order Mennonite Rest of Population (?) (?) (?)

Sampling Clinic for Special Children patients Molecular Diagnosis (1800) Clinic for Special Children Patients (2400 total, 1000 in Lancaster) No Molecular Diagnosis (600) Active Patients Inactive Patients (1000) (1400) Survey sample of parents Survey of all parents of active Lancaster patients of inactive Lancaster patients (?) (?) *Numbers are close approximations

General Health ○ Baseline physical and mental health measures in the Plain communities of Lancaster County ○ Other topics: ● Preventive care ● Access to care ● Environmental exposures ● Social support ● Chronic health conditions ● Mental health attitudes ○ Free writing space

Cultural Impact ○ Survey will also include culturally implicative questions about: ● Fatalism ● Genetic testing ● Willingness to integrate modern medicine into their lives

Genetic Sample Buccal swab to screen 30-35 genes ○ 15 common Plain disease genes ○ 15 common polymorphic alleles ● Maple Syrup Urine Disease (MSUD) ● Blood type ● Glutaric Aciduria (GA1) ● Eye color ● Bipolar disorder ● Factor V Leiden ● Ellis-Van Creveld Syndrome (EVC)

Questions ○ What is our obligation to individuals we identify as at-risk for disease? ○ What is our obligation to individuals we identify as at-risk for passing disease genes on to their children? ○ How do we fulfill these obligations?

Public Health Genomics (PBH471) The application of genomics, the interaction between the human genome, behavior, and the environment , to improving the health of the whole community.

Public Health Genomics (PBH471) ○ Topics include: ● Pedigree analysis ● Epigenetics ● Genetic testing ● Social epidemiology ● Newborn screening ● Public policy ● Prevalence of disease genes ● Human Genome Project (using the Summer 2013 Health Survey)