First ever consumer genomics conference was Boston 6/9-6/11/09 - Shirley Wu

big question: how many medically actionable genes? Melanie is putting together a catalog of these - Shirley Wu

Technology is moving extremely fast. - Martin Fenner

Carlson curve = price performance cost drop over time for genomics, analogous to Moore's law but much faster - Shirley Wu

some groups having weekly meetings just to keep up with data storage/collection issues - Shirley Wu

1 full human genome = 8 terabytes (because lots of additional annotation included to help search/analysis) - Shirley Wu

Current methods and infrastructure not equipped to handle analysis and transfer of such large files (best solution currently: FedEx) - Shirley Wu

Metagenome also incredibly important for human health. many many times more non-human cells in body than human - Shirley Wu

Martin Fenner - another layer of complexity: genome in one part of body != other parts. e.g. cancer cells, different tissues, etc - Shirley Wu

how then to identify rogue cells when we are limited to sampling what we can sample? - Shirley Wu

Some next-gen technologies can look for methylation/epigenetic mutations - Shirley Wu

Study of cancer shifting to more systemic approach - not just mutations in a gene, but copy num variations, problems with DNA repair machinery - Shirley Wu

Identify actionable genetic changes: e.g. drug metabolism (CYPD6 and others) - Martin Fenner

Diabetes-related gene SLC3OA4 (I think): zinc transport - Shirley Wu

10 genes identified for type II diabetes in NIH-sponsored GWAS for identifying components of disease - Shirley Wu

Also a couple genes implicated for Alzheimer's related to high-cholesterol development in mid-life - Shirley Wu

Knome does full-genome for $100K (DTC), Illumina is not DTC but offers full genome for $50K with doctor's approval (and access to data not guaranteed!?) - Shirley Wu

How do doctors respond to DTC genetic data? Melanie: they say "i don't know what to do with this", then "that information's not medically actionable" - Shirley Wu

Jen McCabe: less than 40% of doctors have training in genetics - Shirley Wu

Mac: right now, onus on individual to find out about their genetic information, and also to interpret, because doctors don't know how to - Shirley Wu

Melanie: genetics is the biggest topic for continuing medical education for physicians now - Shirley Wu

Martin: big difference between "i want to know my risk for a specific condition e.g. warfarin metabolism" vs "i want to know everything related to my potential genetic risks" - Shirley Wu

consumer genomics potentially huge for empowering people to take charge of their health, see doctors as just one of many "consultants" in their overall health picture, medical establishment is going to be broadsided by the availability of this information - Shirley Wu

Many chronic disease conditions are multigenetic, and it's risk assessment rather than yes/no answers. - Martin Fenner

so very hard to predict if someone will/will not get it. Can only say uncertainty, risk assessment, many people not comfortable with this. But in some cases can do something, like better/earlier screening etc - Shirley Wu

Mac: Myriad genetics patented the genetic test for BRCA1/2 - need to regulate this stuff STAT because it's not cool - Shirley Wu

Discussion of patentability of genes, e.g. BRCA1/2. - Martin Fenner

ACLU case going on regarding BRCA patent - Shirley Wu

Distinction between data and interpretation. Former maybe shouldn't be patented, but latter maybe should be able to be. But in some cases former is very expensive/difficult to collect. - Shirley Wu

Venter tried to get 6700 patents on human genome, Clinton threw it out and said genome is open source, but apparently now all the genes are patented. - Shirley Wu

How to incentivize development of technologies and analysis for genomics, proteomics, transcriptomics, etc without patents? - Shirley Wu

Do we need patents as incentive for technological advances in personal genomics? There are many alternative models. - Martin Fenner

Joseph Jackson: prize funds, microfinancing... - Shirley Wu

Jen: can you create a market without IP? Will be interesting to see how things develop - Shirley Wu

Dawei: multigenic conditions = multi-drug, systems-level approach to treatment. Draws analogy to drug discovery environment, it's changed a lot recently towards open drug discovery, with many compounds that have proved challenging to develop, Eli Lilly e.g. put one out saying "someone figure out how to use this" - Shirley Wu

Martin: shift towards long tail in drug discovery - less emphasis on single blockbusters, more on specific treatments for boutique conditions - Shirley Wu

Back to consumer genomics.... DNA Direct - test single condition. Navigenics ($2500 inc genetic counseling), Decode ($900), 23andMe ($400) - test multiple variations - Shirley Wu

People who have tried all three find that data is very similar between them, but the interpretation, e.g. assessment of risk for health conditions can vary greatly. Includes even the variations that are used to calculate risk. e.g. breast cancer markers - only 1 marker is shared between the three companies (each uses essentially a different set of markers to determine risk) - Shirley Wu

Many of the most medically relevant SNPs not included in the DTC chips, perhaps bc of patent/cost issues - Shirley Wu

Example for drug development based on science rather than market analysis: Recent approval of Ilaris for a rare autoimmune disease: http://www.businessweek.com/bwdaily... - Martin Fenner

People can open source their genetic data on SNPedia (bout 20 have done it so far) - Shirley Wu

Standard risk assessment multiplies relative risk from all markers used. Not the best way to do it since weights each factor equally, individual risk numbers themselves vary by interpretation, so problem is compounded - Shirley Wu

Social implications of consumer genomics? e.g. Non-paternity issue.. - Shirley Wu

Chronic terminal conditions like Huntington's, patient's right NOT to know - Shirley Wu

What if you get the test, find out you have a condition or are a carrier, your sibling is planning to have kids but didn't get the test, should you tell him/her? - Shirley Wu

Jen is patient 0 for 23andMe's Research Revolution - Shirley Wu

Melanie: "which condition did you sign up for?" Jen: "migraine." Mac: "you should have done testicular cancer!" Jen: "I was going to! I thought about it!" Melanie: "Well we know Jen has a lot more balls than ..." - Shirley Wu

is 23andMe's approach towards consumer-oriented research appropriate? for some, $99 for just a few specific tests and no access to data (just to the report) not worth it.. - Shirley Wu