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Personal Genomics, Personalized Medicine, & YOU. Carrie Iwema , PhD, MLS, AHIP 30 th April 2014 TLA’14. 1997. Outline. Context Personal Genomics Personalized Medicine You (Consumer Impact). Context. Broad Timeline of Genetics (video) from - PowerPoint PPT Presentation
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Personal Genomics, Personalized Medicine, &
YOUCarrie Iwema, PhD, MLS, AHIP
30th April 2014TLA’14
Outline
1.Context2.Personal Genomics3.Personalized Medicine4.You (Consumer
Impact)
Context
Broad Timeline of Genetics(video)from
Genetics & Society: A Course for Educators
byRob DeSalle, PhD & David Randle, PhD
NGS cost over time…
Timeline: Human Genome Sequence
1995
2014
2000
2003
2007
2007
2010
Human Genome Draft
Sequence
Complete Human Reference Genome
Individual Human
Diploid Genome
Jim Watson’s Genome
$2.7 B13 yrs
$24 K15
days
$1 M1
mth
$1K15
mins
1st sequenced
genome of a free living organism:
Haemophilus
Influenzae
GWAS: Genome Wide Association Studies
http://genome.ucsc.edu/ENCODE/
http://www.nature.com/encode/
http://www.genome.gov/10005107
GenomeTV
Lecture Series
PersonalGenomics
Personal Genome Project
• An analysis of all your genes
• Looks for mutations & differences in your genome
• Like taking all current and future genetic tests simultaneously
• A Human Genome Project performed on YOU
What is a Personal Genome Sequence?
personal genetics education project (link)
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
Motivation to change my
habits
Might reveal details of my family tree and genealogy
Planning for my long term medical and financial needs
I am an early adopter and
information altruist
I want to use my genome as a social
networking tool
To inform my reproductive decisions
personal genetics education project (link)
– 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?
Genetic Testing Rationale
personal genetics education project (link)
• 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…
DTC: Direct-To-Consumer Genetic Testing
How do they work?
• 23andMe: genetics just go personal.
– Personal genome API– FDA clearance
• 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
DTC: Major Companies
$99
– 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
Congress & DTC
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 claimsRegulating 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
Suggested Regulation
Genetic testing on campus?Summer 2010
o UC Berkeley• Undergrads• Free• In-house testing• 3 gene variants
o Stanford U• Medical/grad• $99• Navigenics or 23andMe• Full genotype sequencing
• 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
I’m doing it!So you’ve got your sequence…now what?
Crowdsourcing Health Conditions
23andMe &
CureTogether
Personalized Medicine
• 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
Human Genome, US Medicine, & the 4 P’s
How an individual’s
genetic inheritance
affects the body’s
response to drugs
Pharmacogenomics
• 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 over-
expression, thus preventing unnecessary treatments
Example—breast cancer
ChallengesWhat are the
privacy concerns for individual and families?
How much should we fear
discrimination at work and with
insurance?
How far ahead is the technology of its
clinical usefulness?
Will fair weight given to
environmental & social factors?
How can we ensure access for all who want to be
sequenced?
What surprises and secrets might
be revealed?
How realistic are promises of
anonymity?
personal genetics education project (link)
Access & Trust personal genetics education project
(link)
Your doctor
Your spouse
Your employer
Your health insurer
Law enforcement
Researchers studying genetics
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
GINA: Genetic Information Non-discrimination Act
personal genetics education project (link)
“ The first civil rights legislation
of the 21st century”
-Senator Ted Kennedy
Signed 28 May 2008
(After 13 years of debate.)
GINA: Prohibits genetic discrimination in health insurance & employment
personal genetics education project (link)
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…
Genome Statute & Legislation DB
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
Are Genes Patentable?
SciShow: Patenting Person Parts
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.
1971
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2010
2011
0
2000
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6000
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10000
12000
14000
11 10 13 13 37 27 30 29 22 26 42 72 86 105
96 134 219
280 373
375 491 597 78
3
819 95
5
1588
2556
3788 41
05
3828
4463
3872
3536
3055
2722
3474 3587
3175
3238
4293 4389
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
1124
7897
1360
3
1022
5
1001
6
8680
7848
7708
9590 98
94
9941
Number of items loaded into the DNA Patent Database by year as of 2012
Issued Patents Published Applications (n/a from 1970-2000)
Year
11th Oct 2012• Data access & sharing policies• Privacy protections• Security• Compliance w/regulatory schemes
(HIPAA)• Informed consent process & issues• Facilitate research progress• Public benefit
WEBINAR SERIES
Genetic Testing Scenarioshttp://www.pbs.org/wgbh/nova/body/genetic-testing-dilemmas-intro.html
Mom the worrier
You
Crazy Uncle Bill
Skeptical brother
Early adopter sister
Dad already signed up to get sequenced
Grandpa says no way!
Aunt Erma worried about losing her insurance because of her son’s DNA sequence
Cousin Betty wants to donate her sequence to science and make it totally public
Grandma is gone, but a sample of her DNA still exists…
Impact on Family personal genetics education project (
link)
Your kids
Your potential kid?
Henrietta Lacks
controversy
Noninvasive Fetal Sequencing
• 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
Pre-implantation Genetic Diagnosis
personal genetics education project (link)
Common uses of PGD
personal genetics education project (link)
Public attitudes towards PGD
personal genetics education project (link)
Genetic Counselors
Family History Resources
Counseling & Testing Resources
http://www.ncbi.nlm.nih.gov/gtr/
Resources
Thanks for your
attention.
Carrie Iwema, PhD, MLS, AHIPInformation Specialist in Molecular
BiologyHealth Sciences Library System
University of [email protected]
