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By Amy Holcomb Experiential Learning Supervisor

By Amy Holcomb Experiential Learning Supervisor. DNA: Your Ultimate Personal Data. Welcome and Introductions. 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. Today’s Agenda.

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By Amy Holcomb Experiential Learning Supervisor

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

  2. Welcome and Introductions

  3. 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 • Today’s Agenda

  4. DNA and Genetics Overview

  5. 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 • What is DNA?

  6. What is DNA and How Does it Work from Stated Clearly

  7. 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 • Quick History of Genetics

  8. 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 • Key Definitions Related to DNA Testing

  9. Questions or Comments About DNA?

  10. Medical DNA Testing

  11. 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 • General Use

  12. Referral by doctor within medical practice or system • If you exhibit high risk due to family history • If you are pregnant • Mayo Clinic GeneGuide* • Providers of Medical Genetic Testing

  13. 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 • Privacy Risks

  14. 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 • Other Risks

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

  16. Personal DNA Testing

  17. 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 • General Use

  18. Helix • ORIG3N • Genos • Nebula • Providers of Personal DNA Testing • AncestryDNA • 23andMe • Family Tree DNA • MyHeritage DNA • Living DNA

  19. 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 • How Personal DNA Testing Works

  20. 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 • Privacy Risks

  21. 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 • Other Risks

  22. A Personal DNA Testing Experience from CBC’s Marketplace

  23. Let’s Discuss What We’ve Learned

  24. See Your DNA

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

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

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