A presentation for the local AAUW on personal genomics for personal health. Workshop given November 11, 2016.

1. DNA? — an exploration
of 23andMe for health
PF Anderson, Emerging Technologies Informationist,
Taubman Health Sciences Library, University of Michigan
November 11, 2016

2. My personal genomics story
in 25 words or less
BEFORE
● Doctor(s): Tell me where it hurts.
● Me: EVERYWHERE. And ...
● Doctor(s): How long have you hurt?
● Me: 20 years? Forever?
● Doctor(s): It’s probably in your head.
AFTER
What worked? gluten-free diet + new vitamins + exercise
<http://www.slideshare.net/perplexity/celiac-hidden-stories-invisible-disabilities>

3. What is
personal
genomics?

4. What is personal genomics?
Individual vs. population
<http://www.nature.com/gim/journal/v11/n
8/full/gim200978a.html>
Genetics (heredity) vs genomics (functions &
interactions)
<http://www.who.int/genomics/geneticsVSg
enomics/en/>
Image credits: <https://openclipart.org/detail/181150/shadow-of-person-standing-leg-cross-and-put-hands-in-the-pockets> |
<https://openclipart.org/detail/46141/group-of-people>

5. Personal
genomic
services
List of personal genomics
companies (International
Society of Genetic Genealogy:
<http://isogg.org/wiki/List_of_p
ersonal_genomics_companies>

6. Personal genomic
services logos

7. The “Big” (Well Known) Ones

8. And then there’s UM’s “Genes for Good” (FREE!)
● “Genes for Good is a research study
conducted at the University of
Michigan.
● The major goal of the study is to
engage tens of thousands of
individuals in genetic research.
● The primary tool to accomplish this is
the Genes for Good Facebook App.”
<https://genesforgood.sph.umich.edu/> |
<https://genesforgood.sph.umich.edu/face
book_app>

9. How does
personal
genomics work?

10. Basics: what you do, what you get

11. What personal
genomics CAN’T
do
“*Our tests can be used to determine carrier
status in adults from saliva collected using an
FDA-cleared collection device (Oragene DX model
OGD.500.001), but cannotdetermine if you
have two copies of the genetic variant. Each test
is most relevant for people of certain ethnicities.
The tests are notintended to diagnose a
disease, or tell you anything about your risk for
developing a disease in the future. On their own,
carrier status tests are notintended to tell you
anything about the health of your fetus, or your
newborn child’s risk of developing a particular
disease later in life.” 23andMe,
<https://customercare.23andme.com/hc/en-us/a
rticles/212194308-Health-Reports-and-Ethnicity>

12. Why not?
Personal genomics tends to “cherry pick” genes to
examines throughout the entire “orchard” of the
genome.
Clinical genomics take more of an “apple
harvesting” comprehensive deep dive into the
products of a single “tree.”
Image credits: <https://commons.wikimedia.org/wiki/File:Cherry_picking_201127_(5991855207).jpg> |
<https://commons.wikimedia.org/wiki/File:Apple_Harvest_by_Camille_Pissarro.jpg>

13. A personal
genomics
analogy
Image credits:
<https://commons.wikimedia.org/wiki/File:ATCG.jpg>

14. Our genes are like a score …
They tell us what notes are intended.
Image credits: <https://commons.wikimedia.org/wiki/File:Codons_aminoacids_table.png> |
<https://commons.wikimedia.org/wiki/File:Johann_Sebastian_Bach_-_BWV_Anh._117a_-_Polonaise_in_F_major.pdf>

15. … but they can’t tell us how good the piano is,
or how recently it was tuned, …
Image credits: <https://commons.wikimedia.org/wiki/File:The_Honky_Tonk_Blues_-_geograph.org.uk_-_1625960.jpg> |
<https://commons.wikimedia.org/wiki/File:Steinway_%26_Sons_concert_grand_piano,_model_D-274,_manufactured_at_Steinway%27s_factory_in_Hambu
rg,_Germany.png>

16. … or who is playing, or where, or …
Image credits: <https://commons.wikimedia.org/wiki/File:Student_of_House_of_Piano_Music_Academy.JPG> | Hans Bernhard (Schnobby): Oscar Peterson
Plays Piano <https://commons.wikimedia.org/wiki/Oscar_Peterson#/media/File:Oscar_Peterson_1.JPG> |
<https://commons.wikimedia.org/wiki/File:Arthur_Rubinstein_1906.jpg>

17. What CAN
personal
genomics do?

18. You get clues, to take to a detective
Clues or hints to health puzzles or
mysteries
Image credits: <https://commons.wikimedia.org/wiki/Sherlock_Holmes#/media/File:Basil_Rathbone_Sherlock_Holmes.jpeg> |
<https://commons.wikimedia.org/wiki/File:Cluedo_Game_Board.jpeg>

19. Finding Your Detectives!
Family Physicians:
<http://familydoctor.org/familydoctor/en.html>
Genetic Counselors: <http://www.nsgc.org/>
Genetics Home Reference <https://ghr.nlm.nih.gov/>
And (with caution) patient or public forums like
Patients Like Me and 23andMe, as well as
disease-specific patient forums.

20. Are there any
risks?
Image credits: <https://openclipart.org/detail/10970/prohibition1> | <https://openclipart.org/detail/10972/prohibition2> |
<https://openclipart.org/detail/10974/prohibition3> | <https://openclipart.org/detail/10976/prohibition4> | <https://openclipart.org/detail/10978/fire-forbidden-sign> |
<https://openclipart.org/detail/10980/prohibition6> | <https://openclipart.org/detail/10982/prohibition7> | <https://openclipart.org/detail/10984/prohibition8>

21. Risks of personal genomics
Finding out something you don’t want to
know
Misunderstanding / misinterpreting what
you find out
Other people finding out something you
don’t want them to know (employers,
insurance, friends, family)
Discovering relatives you don’t know about
Being discovered BY relatives you don’t
know about
Genetics, a double-edged sword
<https://raceandtechnology.wordpress.com/2014/
12/10/genetics-a-double-edged-sword-2/>
GINA - Genetic Information Nondiscrimination Act
<https://www.eeoc.gov/laws/types/genetic.cfm>

22. How to get
started with
your 23andMe
data

23. 23andMe: Start at the homepage

24. 23andMe: Check your health reports first

25. 23andMe: Then, if you want more, select
“TOOLS”

26. 23andMe: Under “TOOLS,” choose “Browse
Raw Data”

27. 23andMe: You found the Raw Data … Almost

28. 23andMe: After “Opt In”

29. 23andMe: You may also download the data

30. 23andMe: Options prior to download

31. Tools to analyze
your 23andMe
data

32. 23andMe > 23andYOU: 3rd Party Tools
<http://www.23andyo
u.com/3rdparty>

33. 23andMe: 3rd Party Tools
23and You: <http://www.23andyou.com/3rdparty>
ISOGG: Autosomal DNA Tools: <http://isogg.org/wiki/Autosomal_DNA_tools>
A few of my (FREE) favorites:
● GEDmatch: <http://gedmatch.com/>
● Genetic Genie: <http://geneticgenie.org/>
● Promethease: <http://snpedia.com/index.php/Promethease>
● David Pike's DNA Comparison Utilities:
<http://www.math.mun.ca/~dapike/FF23utils/>
● Interpretome: <http://esquilax.stanford.edu/>
Not free:
● Strategene <http://go.strategene.org/genetic-analysis/>

34. Talking with
your doctor
about your
results

35. Doctors can react in different ways …
OMG, it’s a real genetic test!
Wow! Let’s change all your
meds!
OMG, it’s a
personal
genomic
test. Not
another
one! I
don’t have
time for
this.
OMG, it’s a real genetic
test! Wow! Let’s
change all your meds!
OMG, it’s a personal genomic
test. Not another one! I don’t
have time for this.

36. Best is
something
like this —>
Not this —> OMG! (too much
action, too little data)
Or this —> OMG! (not enough
action, not enough conversation
about why it’s important to you)
Hmmmm. Well, this is interesting,
and while it really doesn’t tell us
anything definitive yet, it does
suggest some areas we might
want to explore. Let’s talk more.
Would you be willing to have some
more tests? Or see a genetic
counselor? I’m thinking of …

37. More
information &
resources
● DIYgenomics: <http://www.diygenomics.org/index.php>
● DNA.Land: <https://dna.land/>
● Genetics Home Reference (NIH):
<https://ghr.nlm.nih.gov/>
● GeneKnot: <https://geneknot.com/>
● Genomes Unzipped: <http://genomesunzipped.org/>
● Infinome: <https://www.infino.me/welcome>
● Patients Like Me: <https://www.patientslikeme.com/>
● Your Genome: <http://www.yourgenome.org/>

38. Next, the
microbiome?

39. Contact
Patricia F. Anderson, @pfanderson
<pfa@umich.edu>