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

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

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.

DNA and Genetics Overview

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.

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

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 2007 23andMe testing begins, starting an influx of personal DNA testing companies Genetics is the study of heredity and the variation of inherited characteristics

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

Questions or Comments About DNA?

Medical DNA Testing

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

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.

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 1996. 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…

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

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

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

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

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.

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

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.

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.

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.

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

See Your DNA

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

Thank You Want a copy of this presentation? Visit www.skokielibrary.info/handouts where this presentation will be available for four weeks.