1. DNA: Your Ultimate Personal Data
By Amy Holcomb
Experiential Learning Supervisor

2. Welcome and Introductions
Please share your first name and why you signed up for this workshop.

3. Today’s Agenda Overview of DNA Overview of medical genetic testing
Overview of personal DNA testing
Discussion of what we learned
Extracting our own DNA from cheek cells
This workshop is intended to provide you with introductory information as a starting point for your own personal research.

4. DNA and Genetics Overview

5. What is DNA? Deoxyribonucleic acid
Self-replicating material in all* living organisms
Carrier of genetic information
Genes are stretches of DNA that code for something
Genes are in chromosomes
Chromosomes are in cells
*Viruses have DNA or RNA for genetic material. But viruses are not considered living organisms.

6. What is DNA and How Does it Work from Stated Clearly
Also have videos on genes and chromosomes.

7. Quick History of Genetics
Mendel and his pea experiments identified genes in 1865
20th century science gained understanding of biological inheritance
1980s research allowed identification of mutations, linking to diseases
2003 delivered the Human Genome Project
andMe testing begins, starting an influx of personal DNA testing companies
Genetics is the study of heredity and the variation of inherited characteristics

8. Key Definitions Related to DNA Testing
Variant – a difference in the DNA sequence between two individuals; can cause or contribute to specific diseases or traits
Genotyping – analysis used in testing, looking at specific locations in DNA to identify variations

9. Questions or Comments About DNA?

10. Medical DNA Testing

11. General Use
Screen for specific genetic mutations linked to known diseases with a blood sample
Example: BRCA genes for breast and pancreatic cancer risk
Hone into specific genes like BRCA1 or BRCA 2, which are the best known
Results are not necessarily conclusive
Examples of genetic diseases: sickle cell anemia, cystic fibrosis, down syndrome, huntington’s disease

12. Providers of Medical Genetic Testing
Referral by doctor within medical practice or system
If you exhibit high risk due to family history
If you are pregnant
Mayo Clinic GeneGuide*
Mayo pitches this service as medical genetic testing but uses Helix, a company associated with National Geographic, to test.

13. Privacy Risks Data is HIPAA protected
However, depending on federal law, positive results can pose threat to coverage
May need to disclose genetic testing when enrolling in long-term care policies*
Can opt into larger genetic research where blood sample is de-identified but still linked to your medical records
Example: Genomic Health Initiative
Health Insurance Portability and Accountability Act of The federal Genetic Information Nondiscrimination Act does prohibit insurers from asking for or using your genetic information to make decisions about whether to sell you health insurance or how much to charge you. But those privacy protections don't apply to long-term-care policies, life insurance or disability insurance.
When Affordable Care Act was threatened to be repealed and replaced with the American Health Care Act…

14. Other Risks False positives are always a risk with genetic testing
Positive results do not equate to a diagnosis
Genetics is all about probability
Can learn risk of developing diseases based on genes you test positively for
Negative results are also inconclusive

15. Do you want to know if, at some point in your life, you might develop a specific disease or cancer?

16. Personal DNA Testing
Direct to consumer DNA testing using company, not medical provider

17. General Use
To determine personal ancestry including ethnicity, relatives, and some health insights
Results are based on participation
The more people participate, the more robust the database, and the more accurate the results
Based on where people live today
Inherent projection

18. Providers of Personal DNA Testing
AncestryDNA
23andMe
Family Tree DNA
MyHeritage DNA
Living DNA
Helix
ORIG3N
Genos
Nebula
First go through how it works and associated risks plus part of video. Then come back to look at three websites, find privacy policies, etc. Other companies that review your DNA results and draw conclusions about diet and exercise, or provide more specific data.

19. How Personal DNA Testing Works
Saliva sample or cheek swab is mailed to the provider
DNA in sample is searched for specific genetic variants
Single nucleotide polymorphisms (SNPs)
Associated with some traits and even some diseases and linked to certain regions of the world
Users with shared SNPs are grouped

20. Privacy Risks DNA samples can be stored indefinitely
DNA samples may be sold to a third party at the discretion of the company*
DNA samples may be seized by law enforcement
With some providers focusing on genealogy, participants are matched with potential relatives
And relatives are susceptible to identification
Many companies including 23andMe and AncestryDNA adopted a series of guidelines in July of 2018 where they ask for user permission before sharing data with 3rd parties and will also share when they hand over data to law enforcement. But guidelines are voluntary and don’t account for court ordered data seizures.

21. Other Risks Accuracy and interpretation is a concern
Each company uses its own database* and algorithm for analysis and therefore looks at different variants leading to different results
Variants present still represent a probability
And change depending on the database size
May need to disclose genetic testing when enrolling in long-term care policies
Databases combined include over 12 million samples/people. But there is overrepresentation in typically white geographic areas like Europe and underrepresentation in continents like Africa. The more users, the better the product. Both these factors skew results. If you carry a gene variant associated with blue eyes, you may not have blue eyes. You had a probability of having blue eyes.

22. A Personal DNA Testing Experience from CBC’s Marketplace
Play first 10 minutes. Marketplace is Canada’s consumer watchdog series on the CBC television network.

23. Let’s Discuss What We’ve Learned
What are your thoughts about medical or personal DNA testing?

24. See Your DNA

25. Hands-On Experiment
Using household products, can extract DNA from cheek cells
No testing involved

26. Thank You Want a copy of this presentation?
Visit
where this presentation will be available
for four weeks.