EPID 600 - Introduction to Public Health Practice - Summer 2017

Introduction to Genetics and Public Health
Heather Creswick, M.S.
John Quillin

Is genetics relevant for you? You might be surprised. Listen to this podcast and find out as well as this one from Dr. Francis Collins (here for audio link).

After reviewing these materials, you will be able to:

Learning Outline:

  1. Pre-session self-assessment
  2. Introduction to genetics and genomics
  3. Relevance of genetics/genomics to the essential functions of public health
  4. On-the-job application of public health genomics
  5. Post-session self-assessment

Pre-Session Self-Assessment
How prepared are you to use the power of genomics in the work of public health? Fill out the Self-Assessment before going to the next section. If you are using Windows 10 you will need to be sure to right click and open the file in a PDF reader.
Next, work through the “Tour of Basic Genetics” on this page: http://learn.genetics.utah.edu/content/basics/
The term “genetics” typically refers to the study of single genes. New technology now allows relatively quick and increasingly cheaper analysis of multiple genes, even a look at all ~21,000 genes. The study of all of a person’s genetic information, in aggregate, is called “genomics”. Read this overview of genomics from Healthy People 2020 and how it relates to two HP2020 objectives. 
Below are some key words and concepts to help you form a knowledge base for public health genomics.
Key Words


The following web sites may be useful for your further study.

Also, scan the following:

Relevance to the Essential Functions of Public Health
Throughout your training in public health, you will learn about the 10 Essential Public Health Services:

  1. Monitor health status to identify and solve community health problems.
  2. Diagnose and investigate health problems and health hazards in the community.
  3. Inform, educate, and empower people about health issues.
  4. Mobilize community partnerships and action to identify and solve health problems.
  5. Develop policies and plans that support individual and community health efforts.
  6. Enforce laws and regulations that protect health and ensure safety.
  7. Link people to needed personal health services and assure the provision of health care when otherwise unavailable.
  8. Assure competent public and personal health care workforce.
  9. Evaluate effectiveness, accessibility, and quality of personal and population-based health services.
  10. Research for new insights and innovative solutions to health problems.

An ongoing challenge for public health personnel is to incorporate current understanding of the science of health and disease in effective and ethical public health measures.  Your understanding of the relevance of the genetic components of your family health history to your own health, and your willingness to think about these complex issues for society and public health are both part of your legacy. Think genetically. 

Review the CDC Genomic Workforce Competencies and continue to reflect upon them as you go through your MPH program.

The following have been identified as public health functions especially relevant to genetics:

Critical issues include:

On-the-Job Application of Public Health Genomics
Imagine you have graduated with your MPH. It is your first week as Director of Public Health Genetics for Virginia. This class is going to walk you through three public health genetic issues that arrive on your desk that first week. How will you handle them?
(Each of the PowerPoint presentations below includes audio of the lecturers guiding you through each slide. Make sure you are at a computer at which you can listen to this audio. You will need to manually advance each PowerPoint slide.)
Day #1 as Director of Public Health Genetics
Genetics Competency Elements:

You receive two reports on your desk:

What other information do you want?
Where are the gaps? 
What actions do you recommend?
Newborn Screening Ppt
Some additional background:
1) MMWR Sept. 19 2008:Impact of Expanded Newborn Screening — United States, 2006
2) National Birth Defect Prevention Network 
3) National Newborn Screening and Genetics Resource Center
4) Virginia Department of Health Newborn Screening Program

Day #2 as Director of Public Health Genetics 
Genetics Competency Elements:

The Board of Medical Assistance Services would like to meet with you about a new Medicaid genetics initiative. They would like to establish a biobank and require all new Medicaid enrollees to contribute a blood sample. Linking their genomic information with Medicaid claims data could provide a treasure trove for epidemiologic research.

What other information do you want?
Where are the gaps? 
What actions do you recommend?

Some additional background:
Biorepositories and Biospecimen Research Branch of the NIH
Muin Khoury presentation on Epigenetics and Public Health, http://www.astho.org/Annual-Meeting-2014/Presentations/Muin-Khoury-Epigenetics-Session/
Epigenetics: Relevance and Implications for Public Health, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480875/
Hawkins Virani A and Longstaff H. Ethical considerations in biobanks: How a public health ethics perspective sheds new light on old controversies. J Genet Couns 2015; 24:428-432.
Day #3 as Director of Public Health Genetics
Genetics Competency Elements:

When you get to your office this morning, you see that someone has left a copy of HP2020 on your desk, opened to the page describing the Genomics objectives. The following objective is highlighted: Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome (or familial colorectal cancer syndromes). Attached is a post-it note: “What are we going to do about this? Can the Virginia Cancer Registry help?”
See also this JAMA Viewpoint on Family History

What other information do you want?
Where are the gaps? 
What actions do you recommend?

PowerPoint on Colorectal Cancer
Some additional background:
Explore these web sites

Post-Session Self-Assessment Be sure to open in a PDF reader and not in Windows if using Windows 10.
Now that you have reviewed the class materials, are you more competent to incorporate genomics into your public health practice? Did your score on the "self-assessment" improve?