Cambridge Healthtech Institute’s Second Annual
Genomics in Medicine
Establishing a Patient-Centric View of Genomic Data
Part of the 21st Annual Molecular Medicine Tri-Conference

February 13-14, 2014 | Westin St. Francis | San Francisco, CA

Day 1 | Day 2 | Symposia Brochure | Full Event Brochure 

Friday, February 14

8:00 am Morning Coffee


8:25 Chairperson’s Remarks

Nazneen Aziz, Ph.D., Director, Molecular Medicine, Transformation Program Office, College of American Pathologists

8:30 Direct-to-Consumer Genetic Testing: Balancing the Good and the Bad

Nazneen Aziz, Ph.D., Director, Molecular Medicine, Transformation Program Office, College of American Pathologists

There have been active debates in the media and the science community on whether the growing trend of consumer directed tests could lead to unintended harm or empower people. Genetic information, whether it is used for prediction of disease risk, therapeutic decisions or diagnosis of disease is empowering. This talk will discuss analytical validity, clinical validity and clinical utility of genetic tests and discuss, using specific examples, which types of DTC genetic tests can be helpful and where they can be misleading.

9:00 Crowdsourcing Genetic Discovery

Nicholas Eriksson, Ph.D., Principal Scientist, Statistical Genetics, 23andMe

As the flurry of genetic progress in the last decade has created an excitement about genetics in the public, 23andMe has brought together hundreds of thousands of consumers to learn about their genetics and to participate in new research online. I'll show examples of how this approach can lead to new discoveries, discuss the current state of risk prediction based on genetics, and give some projections for the future.

9:30 Personal Genomics through Smart Digital Media

Patrick Merel, Ph.D., Founder & CEO, Portable Genomics

Portable Genomics will be sharing the concept of its mobile platform that facilitates the access to important genomic information through the use of familiar interfaces similar to the digital media industry.

10:00 Sponsored Presentations (Opportunities Available)

10:30 Coffee Break with Exhibit and Poster Viewing

11:00 The Ethical and Social Implications of Direct-to-Consumer Genetic Testing

Sandra Soo-Jin Lee, Ph.D., Senior Research Fellow, Center for Biomedical Ethics, Stanford University Medical School

This presentation will examine the ethical and social implications of DTC personal genomics. Network ethnography will be used to trace how and with whom individuals share their personal genomic information, to examine attitudes and perspectives among DTC PGI consumers, and to investigate how companies create online tools which form strategic collaborations and networks.


11:30 Next-Generation Genetic Counseling

Abhik Shah, Software Engineer, Product Development, Counsyl, Inc.

12:00 pm DTC(CC) – Consumers, Clinicians and Counseling

Erica Ramos, MS, CGC, Clinical Genomics Specialist, Certified Genetic Counselor, Translational and Consumer Genomics, Illumina, Inc.

Direct-to-consumer (DTC) testing has raised various concerns among medical professionals, including issues regarding communication of results and integration of tests into patient care. However, DTC testing is a key driver of patient interest in genomic medicine and provides an opportunity for clinicians and genetic counselors to increase awareness of the benefits of genomics and the services that the genetics community can provide. This talk will focus on the applications and positioning of DTC testing from the genetic counselor’s perspective.

12:30 Close of Symposium

Day 1 | Day 2 | Symposia Brochure | Full Event Brochure 

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