DNA?

— an exploration
of 23andMe for health
PF Anderson, Emerging Technologies Informationist,
Taubman Health Sciences Library, University of Michigan
November 11, 2016
 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>
 What is
personal
genomics?
 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>
Personal List of personal genomics
genomic companies (International
Society of Genetic Genealogy:
services <http://isogg.org/wiki/List_of_p
ersonal_genomics_companies>
Personal genomic
services logos
The “Big” (Well Known) Ones
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>
 How does
personal
genomics work?
Basics: what you do, what you get
 “*Our tests can be used to determine carrier
status in adults from saliva collected using an

What personal FDA-cleared collection device (Oragene DX model

OGD.500.001), but cannot determine if you

genomics CAN’T have two copies of the genetic variant. Each test
is most relevant for people of certain ethnicities.

do The tests are not intended 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 not intended 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>
 Why not?
Personal genomics tends to “cherry pick” genes to Clinical genomics take more of an “apple
examines throughout the entire “orchard” of the harvesting” comprehensive deep dive into the
genome. 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>
A personal
genomics
analogy

Image credits:
<https://commons.wikimedia.org/wiki/File:ATCG.jpg>
 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>
 … 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>
 … 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>
 What CAN
personal
genomics do?
 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>
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.
 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>
Risks of personal genomics
Finding out something you don’t want to
know
Misunderstanding / misinterpreting what
you find out
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>

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
 How to get
started with
your 23andMe
data
23andMe: Start at the homepage
23andMe: Check your health reports first
23andMe: Then, if you want more, select
“TOOLS”
23andMe: Under “TOOLS,” choose “Browse
Raw Data”
23andMe: You found the Raw Data … Almost
23andMe: After “Opt In”
23andMe: You may also download the data
23andMe: Options prior to download
Tools to analyze
your 23andMe
data
23andMe > 23andYOU: 3rd Party Tools

<http://www.23andyo
u.com/3rdparty>
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/>
Talking with
your doctor
about your
results
Doctors can react in different ways …
OMG,
OMG, it’s it’s a real
a real genetic
genetic test!
test!
Wow! Wow!
Let’s Let’sall your
change OMG, it’s a personal
OMG,genomic
it’s a
change all your meds!
meds! test. Not another personal
one! I don’t
have time for this.genomic
test. Not
another
one! I
don’t have
time for
this.
 Best is
something
like this —> Or this —> OMG! (not enough
action, not enough conversation
Not this —> OMG! (too much about why it’s important to you)
action, too little data)

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 …
 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/>
 Next, the
microbiome?
 Contact
Patricia F. Anderson, @pfanderson
<pfa@umich.edu>