dna and personalized medicine

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DNA & Personalized Medicine e-Patient Connections October 27, 2009 @23andme @akhomenko genetics just got personal.

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Page 1: DNA and Personalized medicine

DNA &Personalized

Medicine

e-Patient ConnectionsOctober 27, 2009

@23andme

@akhomenko

genetics just got personal.

Page 2: DNA and Personalized medicine

What is Personalized Medicine?

“The application of genomic and molecular data to better target the delivery of health care, facilitate the discovery and clinical testing of

new products, and help determine a person's predisposition to a

particular disease or condition.”Proposed Senate Bill S.976

Sponsored by Barack Obama in 2007

genetics just got personal.

“A form of medicine that uses information about a person’s genes,

proteins, and environment to prevent, diagnose, and treat disease.”

National Cancer Institute website

“The use of genetic susceptibility or pharmacogenetic testing to tailor an individual's preventive

care or drug therapy.”Nature Genetics website

Page 3: DNA and Personalized medicine

Brief History of Genomics

Human Genome Project: first complete sequence of the human genome- started in 1990- first draft in 2000- completed in 2003

genetics just got personal.

Page 4: DNA and Personalized medicine

Brief History of Genomics

HapMap project: haplotype map of the human genome, key resource for research- started in 2002- phase 1 published in 2005- phase 2 published in 2007

genetics just got personal.

Page 5: DNA and Personalized medicine

Brief History of Genomics

Genotyping chips (e.g fromAffymetrix and Illumina): widely used in genome-wide association studies (GWAS)- 10k SNP arrays in 2004- 500k SNP arrays in 2006

genetics just got personal.

Page 6: DNA and Personalized medicine

What is 23andMe?

• Web-based service that helps customers read and understand their DNA - ancestry, inherited traits and disease risk. Started in April 2006, launched in November 2007.

• Customers submit a small saliva sample that is processed using a custom DNA chip.

• Data presented on a secure website using interactive tools.

• Facilitates research through an initiative called 23andWe

genetics just got personal.

Page 7: DNA and Personalized medicine

What is 23andMe?

genetics just got personal.

• Illumina HumanHap550+ array (~580k SNPs)– Opportunity to customize– Maximum information per $

• Custom Content (30k SNPs)– SNPs with reported associations (including rare variants)– Pharmacogenetic SNPs (including DMET)– Coverage of SNPs used in standard genetic tests– HLA region– Y and Mito

Page 8: DNA and Personalized medicine

What is 23andMe?

genetics just got personal.

Page 9: DNA and Personalized medicine

23andMe and personalized medicine

• Empowers individuals to understand and take action based on their genetic data

• Creates a research platform that gives individuals a voice in setting the direction of research

• Provides a community in which individuals can exchange information with each other

genetics just got personal.

Page 10: DNA and Personalized medicine

Health and Traits

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Page 11: DNA and Personalized medicine

Prostate Cancer

Presentation of the genotype-specific risk

estimate

genetics just got personal.

Page 12: DNA and Personalized medicine

Prostate Cancer

Markers used in the risk estimate and their effects

genetics just got personal.

Page 13: DNA and Personalized medicine

Real-life example

genetics just got personal.

Page 14: DNA and Personalized medicine

Real-life example

genetics just got personal.

Jeff Gulcher, CSO of deCODE

• Got his genetic data from a deCODEme test• PSA test for prostate cancer at the age of 48• Exploratory biopsy - aggressive form of cancer• Underwent surgery right away

deCODEme blog, July 25, 2008

Page 15: DNA and Personalized medicine

Carrier Status

For individuals who have a family history of a genetic disorder

and to people in population groups with an increased

risk of specific genetic conditions.

genetics just got personal.

Page 16: DNA and Personalized medicine

Pharmacogenetics

Warfarin: Medicare won’t pay for testing

across the board, but would pay for it in clinical trials.

FDA recommends a genetic test.

genetics just got personal.

Page 17: DNA and Personalized medicine

Pharmacogenetics

Plavix: a number of patients getting Plavix currently get no benefit

from it, knowing the genetic factors can help choose

an alternative drug (e.g. Effient).

genetics just got personal.

Page 18: DNA and Personalized medicine

Real-life examples

genetics just got personal.

Had a blood clot at the age of 35 and had to

start taking a blood thinner.Went to the doctor with23andMe data in hand.

Page 19: DNA and Personalized medicine

Venous Thromboembolism (VTE)

There are known genetic mutations that increase the risk of VTE considerably. Other known risk factors include

obesity, pregnancy, birth-control pills.

On September 15, 2008, the US Surgeon General, Rear Admiral Steven K. Galson, MD, MPH, issued the first Call to Action to Prevent Deep Vein Thrombosis and

Pulmonary Embolism.

genetics just got personal.

Page 20: DNA and Personalized medicine

Research 2.0

genetics just got personal.

• People, not “subjects”

• Reduced barriers to participation

• Returning data to participants

• Sharing results with participants

• Allow participants to help guide research direction and goals

• Utilization of the Web and social networking tools

Active, engaged participants making a difference

Page 21: DNA and Personalized medicine

Research 2.0

• 23andWe- surveys, individual-vs-group results

• Parkinson’s Disease- 3000+ individuals enrolled in a research study

• Research Revolution- Patient-driven research, 10 candidate diseases

• Senior Games- 4500+ athletes enrolled as a cohort

genetics just got personal.

Page 22: DNA and Personalized medicine

Research 2.0

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Page 23: DNA and Personalized medicine

Research 2.0

• Paper abstract presented at ASHG 2009: Web-

based, participant-driven studies yield novel

genetic associations for common traits.• 3 novel associations, a number of replications.

“The strangeness of the 23andMe model is starting to wear off, and presentations like this one will no doubt help to convince scientists that this is a company that at least is capable of doing solid science.”

Daniel MacArthur, Genetic Future Blog, October 2009

genetics just got personal.

Page 24: DNA and Personalized medicine

Customer engagement

genetics just got personal.

Page 25: DNA and Personalized medicine

Customer engagement

genetics just got personal.

Page 26: DNA and Personalized medicine

Customer engagement

Initial focus on early adopters, novelty and status seekers. Press and event marketing. Lots of features, eventual information overload. On-site community for

support, off-site community for outreach: twitter,facebook, genetic genealogy mailing lists and forums.

The perception has changed dramatically in the 2 years since we launched: encountering a lot less resistance

from scientific, research, medical communities. Need to define and focus the product more.

genetics just got personal.

Page 27: DNA and Personalized medicine

Customer engagement

Research Revolution – poor experience with patient communities, resistance to outside voices, model. Lack of internal advocates, even people who believed in what we

did were reluctant to lend their voice to the broad discussion. One-on-one interactions were the most

successful.

On the ancestry front, the opposite experience: value proposition is clear, people are used to paying for genetic

data, good success in marketing a discounted product through key figures in target communities.

genetics just got personal.

Page 28: DNA and Personalized medicine

Who benefits from usage of genetic data?

genetics just got personal.

• Patients– Understand their own data, actively participate in care

• Doctors– Preventive care, pharmacogenetics

• Payers– Lower cost of care with the right drugs and therapies

• Drug companies– Improved patient outcomes, faster drug development

• Researchers– Patient-powered research platform, engaged community

Page 29: DNA and Personalized medicine

Need to fill in the gaps!

genetics just got personal.

• 23andMe has established the initial connection with consumers / patients

• How do we bring everyone else into the fold?

What do you think?

Page 30: DNA and Personalized medicine

Real patient data

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Page 31: DNA and Personalized medicine

Thank you!

genetics just got personal.

www.23andMe.com

Discount code: EPATIENT2009

Alex KhomenkoDirector of Engineering

[email protected]@akhomenko