EPID 600 - Introduction to Public Health Practice - Fall 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 (Click 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 this self-paced Introductions to Genetics. This site has changed since the spring. Please review the second and third options, what are DNA and genes? And what is inheritance.?
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 (focus on the first two and 5th bullets).

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

Critical issues include:

[See also: Genetics and Public Health in the 21st Century (Muin Khoury, Wylie Burke, Elizabeth J Thomson (eds.), New York, Oxford University Press, 2000) is a comprehensive monograph about using genetic information to improve health and human disease.]

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 these reports on your desk:

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

NewBorn Screening PowerPoint
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

Late Breaking June 8 JAMA, PH Research and use of stored dried blood spots,discusses the potential problems of research using stored samples from past newborn blood screens..

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

Your Congresswoman has two grandchildren with autism spectrum disorder and included a promise to “to do more testing for autism” in her campaign.  She has representatives of a company that has a panel of markers for autism asking to schedule a meeting with you so that you can become her state professional advocate to add this testing to the newborn screen.

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

Web-Based Autism Exercise:
Your 18-month-old nephew for whom you sometimes babysit is not talking yet. The bus you take downtown has a sign on it that reads – “Act early. Know the signs. 1 in 160 children has autism.” 50-70% of individuals with autism have a cognitive or intellectual disability. You decide you need to learn more about autism and intellectual (cognitive) disabilities, formerly – and sometimes still called – mental retardation.
Surf the internet or use other resources to answer the following questions.

Question 1. How is autism currently defined?
We see what we know. You need to develop your skills at diagnosis and have standardized methods/tools for screening and identifying conditions. You understand that we often do screening tests as a first step in assessing a potential medical condition (e.g. one blood pressure measurement does not diagnose hypertension).

Question 2. Find the current American Academy of Pediatrics recommended algorithm for screening for autism (sometimes called autism spectrum disorder (ASD) to include children who may not quite meet the narrow definition but who have many of the features).
You learn that having a sibling with autism, and a parent/caregiver/or pediatricians’ concern about the child’s development merit use of a specific autism screening tool and potentially referral for further evaluation and diagnosis.

Question 3. How would you contact the Child Development Clinic at VCUHS?
The diagnosis of ASD is confirmed at this clinic with the ADOS (Autism Diagnostic Observation Schedule) instrument. You understand that autism may be seen in some single gene disorders, untreated metabolic conditions (e.g. PKU), some teratogenic conditions, some chromosome conditions, as well as having multiple genes contributing.

Question 4. Can you find a recent Genome Wide Association Study (GWAS) that described possible genetic contributions to the autism phenotype?
A Genome Wide Association Study is a study that compares the complete DNA of people with a disease or condition to the DNA of people without the disease or condition. These studies help find the genes involved in a disease, and may help prevent, diagnose, or treat the disease. A GWAS typically compares SNPs (single nucleotide polymorphisms) between a large number of well-defined “cases” of the condition and a large number of controls. The strength of the evidence for a true association between a SNP (and nearby nucleotides) and the condition/phenotype depends on the likely number of true associations and the study’s power (sample size and effect sizes) to detect them.

Question 5. How would you find out more about research studies on new treatments?
Some other questions for your consideration:

  1. How many children on average are born annually with this condition in Virginia and in the United States?
  2. How is the condition treated?
  3. What are the issues involved in informed consent/dissent for newborn screening?
  4. What needs to be in place for an effective newborn screening and follow-up system for this condition in Virginia?
  5. Should autism susceptibility testing be added to the newborn screen?

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 new 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 Viewpoin 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