Personal Genomics
Carrie Iwema,
PhD, MLS, AHIP
19th March 2014
Molecular Biology Information Service
1997
Outline
1.Context
2.Personal Genomics
3.Personalized Medicine
4.Consumer Impact
Context
Broad Timeline of Genetics
(video)
from
Genetics & Society:
A Course for Educators
by
Rob DeSalle, PhD & David Randle, PhD
NGS cost over time…
Timeline: Human Genome Sequence
$24 K
15 days
$2.7 B
13 yrs
Human Genome
Draft Sequence
Individual Human
Diploid Genome
2000
2007
1995
1st sequenced
genome of a
free living
organism:
Haemophilus
Influenzae
2010
2003
2007
Complete Human
Reference Genome
Jim Watson’s
Genome
$1 M
1 mth
2014
$1K
15 mins
Human Genome Project
GWAS: Genome Wide Association Studies
http://genome.ucsc.edu/ENCODE/
http://www.nature.com/encode/
http://www.genome.gov/10005107
GenomeTV
Lecture
Series
Personal
Genomics
Why get genetic testing?
Ideas for more tests
and interventions if I
learn I’m at risk
To find the right drugs,
in the right doses, for
my conditions
Planning for my long
term medical and
financial needs
I want to use my
genome as a social
networking tool
I am an early adopter
and information altruist
Might reveal details of
my family tree and
genealogy
To inform my
reproductive decisions
personal genetics education project (link)
Motivation to
change my habits
Genetic Testing Rationale
– Predictive testing
• Am I at risk for a genetic disease?
– Diagnostic testing
• Does my disease have a genetic basis?
– Carrier testing
• Might I pass on a genetic mutation to a potential child?
– Prenatal testing
• What can I learn about the genetic profile of my fetus?
personal genetics education project (link)
Personal Genome Project
DTC: Direct-To-Consumer Genetic Testing
How do they work?
• Order kit
• Spit into a tube
• Send tube back
• Company puts your DNA sample on a chip
• “science” occurs
• Report mailed back to you; may only be raw data
• Genotype NOT full sequence (typically)
• Consultations, analysis, worry, confusion…
SNP: single nucleotide polymorphism
DTC: Major Companies
• 23andMe: genetics just go personal.
– Personal genome API
– FDA clearance
$99
• Navigenics: clinically guided genetic analysis
– Bought out by Life Technologies
• Pathway Genomics: The Value of Knowing
– Must be ordered through a U.S. physician registered w/PG
• deCODEme: deCODE your health
– Discontinued sales
Congress & DTC
– Walgreens, Pathway
Genomics, & FDA (May 2010)
– Government Accountability Office (GAO)
• 22 July 2010
• DTC genetic testing companies provide “results that are
misleading and of little or no practical use.”
• Companies: 23andMe, Navigenics, Pathway Genomics + others
Degree of Regulation vs Public Right to Personal Info
Suggested Regulation
1. Ensure appropriate info & consent procedures
2. Formal laboratory accreditation
3. Evidence of a valid
gene-disease association
4. Appropriately qualified staff to
interpret the test result
5. Consumer protection legislation to prevent
false or misleading claims
Regulating direct-to-consumer genetic tests: What is all the fuss about?
Wright CF, Hall A, Zimmern RL.
Genet Med. 2010 Oct 1. [Epub ahead of print] PMID: 20921893
I’m doing it!
So you’ve got your
sequence…now what?
• Talk to the company’s genetic counselors
• Talk to your physician/genetic counselor
• Do it yourself…?
– SNPedia: wiki investigating human genetics
– Promethease: uses SNPedia to analyze &
help explain your DNA
Promethease Report
Personalized
Medicine
Human Genome, US Medicine, & the 4 P’s
• Predictive
– Use patient’s genome to determine probability of
developing certain diseases
• Preventive
– Based on individual risk profile, start therapies in
advance to reduce likelihood of illness
• Personalized
– Create drug therapies to suit each genome
• Participatory
– Patients will maintain own health by learning
about their predispositions
Pharmacogenomics
How
an individual’s
genetic inheritance
affects
the body’s response
to drugs
Example—breast cancer
•
•
•
•
HER2 oncogene
Over-expressed in 25-30% patients
Results in increase in replication of cancer cells
Treat w/Herceptin, a monoclonal antibody that
inhibits HER2
BENEFITS
– Herceptin targets ONLY cancerous cells, thus
eliminating need to administer large drug doses
– Identification of ONLY patients w/gene overexpression, thus preventing unnecessary treatments
Impact of genetic variation on drug response
Challenges
How much
should we fear
discrimination at
work and with
insurance?
What are the
privacy concerns
for individual
and families?
How realistic
are promises of
anonymity?
How can we
ensure access for
all who want to
be sequenced?
Will fair weight
given to
environmental &
social factors?
What surprises
and secrets might
be revealed?
How far ahead is
the technology of its
clinical usefulness?
personal genetics education project (link)
Access & Trust
Your doctor
Your spouse
Researchers studying genetics
Law enforcement
Your health insurer
Your employer
personal genetics
education project
(link)
Incidental Findings?
•
•
•
•
22 March 2013
Labs performing genome/exome clinical
sequencing to also report on 57 specific genes
No age restrictions, no choice to not know
Clinicians provide pre- & post-test counseling
Modified as needed due to technical advances
FEARS!!!
Genetic Discrimination
GINA: Genetic Information Non-discrimination Act
“ The first civil rights
legislation of the
21st century”
-Senator Ted Kennedy
Signed 28 May 2008
(After 13 years of debate.)
personal genetics education project (link)
GINA: Prohibits genetic discrimination
in health insurance & employment
Title 1: Prohibits discrimination in group and individual
health insurance plans. Forbids genetic information being
used to deny coverage, adjust premiums, or require
someone to take a genetic test.
Title 2: Prohibits employers from using genetic
information to make hiring, firing or promotion decisions.
Severely limits employers rights to request, require, or
purchase an employee’s genetic information.
California…
personal genetics education project (link)
Genome Statute & Legislation DB
Are Genes Patentable?
Myriad Genetics case
–
–
–
–
–
2009-current
BRCA1 and BRCA2
Back & forth in court (Supreme Court 4/15/13)
Genes CANNOT be patented (9-0) (6/13/13)
Myriad now suing Ambry Genetics & Gene by Gene
SciShow: Patenting Person Parts
13
0
37
0
27
0
30
0
29
0
22
0
26
0
42
0
72
0
86
0
105
0
96
0
1974
1975
1976
1977
1978
1979
1980
1981
1982
1983
1984
1985
Year
Source: Mara Snyder and Bob Cook-Deegan, DNA Patent Database, 2 January 2012
Creative Commons "free use with attribution" license, with the attribution to Genomics Policy Resource.
2011
2010
3,238
3,175
3,587
3,474
4,389
4,293
4,463
7708
7848
7897
8680
10225
10016
9941
9894
9590
10000
2009
2008
2007
2006
2005
2,722
3,055
3,536
3,872
3,828
4105
3788
13603
Published Applications (n/a from 1970-2000)
2004
1124
2556
14000
2003
0
0
1588
8000
2002
2001
2000
1999
0
0
955
819
783
597
491
375
373
4000
1998
1997
0
0
0
0
0
0
0
0
280
219
2000
1996
1995
1994
1993
1992
1991
1990
1989
0
0
Issued Patents
1988
1987
134
13
0
1973
0
10
0
1972
1986
11
0
0
1971
Number of items loaded into the DNA Patent Database by year as of 2012
12000
6000
11th Oct 2012
•
•
•
•
•
•
•
Data access & sharing policies
Privacy protections
Security
Compliance w/regulatory schemes (HIPAA)
Informed consent process & issues
Facilitate research progress
Public benefit
Consumer Impact
Learning from One’s Genome
personal genetics
education project
(link)
Impact on Family
Early adopter
sister
You
Skeptical
brother
Dad already
signed up
to get
sequenced
Mom the worrier
Grandpa
says no
way!
Crazy
Uncle Bill
Aunt Erma worried
about losing her
insurance because
of her son’s DNA
sequence
Your kids
Grandma is
gone, but a
sample
of her DNA
still exists…
Cousin Betty
wants to donate
her sequence to
science and
make it totally
public
Your potential kid?
Henrietta Lacks
controversy
Noninvasive Fetal Sequencing
Pre-implantation Genetic Diagnosis
• Method to test for certain genetic traits in an embryo
• Embryo is created via in vitro fertilization
• Genetic testing occurs when embryo is 2-4 days old,
typically at the 8-cell stage
• A single cell is removed and tested
• Results of testing are used to decide which embryos
to implant in prospective mother’s uterus
personal genetics education project (link)
Genetic Counselors
Family History Resources
Counseling & Testing Resources
http://www.ncbi.nlm.nih.gov/gtr/
Resources
Genetic Testing Scenarios
http://www.pbs.org/wgbh/nova/body/genetic-testing-dilemmas-intro.html
Thanks for
your
attention.
Carrie Iwema, PhD, MLS, AHIP
Information Specialist in Molecular Biology
Health Sciences Library System
University of Pittsburgh
iwema@pitt.edu