Congratulations to Diana Cousminer, the winner of our Exome Giveaway!*
Hailing from Finland, Diana is extremely excited to be one of the first people to have her exome sequenced. “I felt like a huge geek because no one at home understood what I had won or why I was so fired up until I explained what an ‘exome’ is,” she told us.
As a self-proclaimed skeptic, Diana is also curious to see what kind of genetic information is available directly to consumers, given what she knows is the early and evolving nature of the science of genetics as it pertains to human health and disease. She says that while she’s “not sure if this information will change my life… it will definitely be a lot of fun to explore my own genome as someone who works with other people’s DNA for a living.” Diana is studying for her Ph.D. in human genomics at the University of Helsinki.
*The original winner declined the prize. Diana’s name was randomly drawn from the remaining entries.
Ever since Kevin Davies popularized the phrase “the $1000 genome“, the vision of whole genomes at the corner store has alternately inspired and unsettled onlookers. Well, we’re not quite at the point where getting your genome sequenced costs less than buying a smartphone, but sequencing is definitely still rising in popularity.
Nowhere was this more evident than at the 12th International Congress of Human Genetics (ICHG) held three weeks ago in Montreal, which brought together more than 6,000 geneticists, clinicians, bioinformaticists, educators, genetic counselors, technology vendors, and journalists. The opening debate (which was moderated by Davies) set the scene: “Whole Genome Sequencing: To Do It Or Not To Do It?”
The next four days were a whirlwind of presentations, tutorials, panel debates, and posters, about a thousand of which involved sequencing. Everywhere you looked, scientists were using sequencing to look for genetic variants associated with health conditions, to diagnose rare diseases, to analyze ancestral patterns in populations across the globe, and to study the evolution of human traits.
But the excitement over the potential of sequencing that characterized 2010′s American Society of Human Genetics (ASHG) meeting had also matured into a more balanced perspective one year on. Many sequencing projects are still in the early phases, and initial reports carried a similar theme: large studies (i.e. involving thousands of research participants) are still generally necessary to produce quality results.
For individuals, however, sequencing may provide more immediate benefits. While not everyone agrees on whether sequencing should be incorporated into general clinical care, its value in cases of rare, undiagnosed diseases seems clear.
Though the buzz may seem otherwise, human genetics isn’t all about sequencing, and our 11 scientists in attendance were able to soak in quite a bit of other areas of human genetics (and a bit of Montreal) in the sometimes overwhelming ICHG schedule. Some of the interesting things we learned:
- A British research group found that there are enough genetic differences between people living in the United Kingdom that statistical methods can distinctly cluster individuals living in neighboring towns based on their genetics.
- Looking at just six medications at one hospital, preemptively genotyping for variants related to drug response could have prevented more than 400 adverse events and improved drug dosing for 500 patients.
- The President of ASHG, Lynn Jorde, has been genotyped by 23andMe and he shared some of his results as part of his presidential address on genetics education.
- Several presentations surveyed or compared people’s attitudes towards research participants receiving data back from studies. In general, participants wanted access to their data and wanted the freedom to decide what data they should get back, while genetic counselors and clinicians felt that genetics or medical experts should decide what data participants get back. Getting access to this data was also a strong motivating factor for participating in research, on par with financial compensation and effort required to participate. Most people were especially interested in receiving actionable data for common conditions.
- The prevailing scientific explanation for why ABO blood groups appear in humans as well as other primates is that they arose multiple times throughout evolutionary history. New research challenges that view by providing evidence that the genetic variations underlying the different blood groups preceded the splits between primate lineages — one of the few examples of a trans-species polymorphism.
- Montreal has the largest underground/enclosed tunnel system in the world — very handy in the rain!
- Montreal’s Chinatown rivals that of our own San Francisco’s — we loved Szechuan restaurant Delicieux Xiang so much we went there twice in one day. Must-have dishes: ma po tofu, spicy lamb, and snow pea shoots. (If you love spicy food, you’ll be in heaven here.)
As ever, we were impressed with the breadth and depth offered by the world’s largest human genetics conference. 23andMe’s scientists did plenty of their own presenting at ICHG as well, showcasing the company’s research mission with 10 scientific posters. We are happy to share these posters with our readers below.
(Note that many of these posters present preliminary results that have not yet been peer-reviewed and may require additional investigation to be considered scientifically established.)
Exceptions to the “One Drop Rule”? DNA evidence of African ancestry in European Americans.
JL Mountain, JM Macpherson, CB Do, BT Naughton, RA Kittles1, N Eriksson.
1University of Illinois at Chicago
Assigning intra-European ancestry to identical-by-descent segments using a large database of self-reported ancestry.
JM Macpherson, BT Naughton, CB Do, JY Tung, JL Mountain.
Novel associations for hypothyroidism include known autoimmune risk loci.
BT Naughton, JY Tung, AK Kiefer, DA Hinds, U Francke1, CB Do, JL Mountain, N Eriksson.
1Stanford University, Stanford CA
Genetics of allergy and related phenotypes in participant driven and cross sectional cohorts.
DA Hinds, G McMahon1, AK Kiefer, CB Do, N Eriksson, M Curran2, M Loza2, D Talantov2, NJ Timpson1, DM Evans1, B StPourcain1, SM Ring1, KC Nadeau3, D Miralles2, G Davey-Smith1, JY Tung.
1University of Bristol, England; 2Johnson & Johnson, San Diego CA; 3Stanford University, Stanford CA
Phenome-wide studies of SNPs from GWAS in a broadly phenotyped population.
Eriksson N, JY Tung, DA Hinds, CB Do, AK Kiefer, BT Naughton, JL Mountain.
Prediction of complex multifactorial disease: comparing family history and genetics.
CB Do, JM Macpherson, DA Hinds, BT Naughton, U Francke1, N Eriksson.
1Stanford University, Stanford CA
Evaluation of recruitment strategies for web-based genetic studies.
E Drabant, K Barnholt, C Dijamco, JY Tung, JL Mountain, A Wojcicki.
Characteristics of an online consumer genetic research cohort.
JY Tung, N Eriksson, AK Kiefer, JM Macpherson, BT Naughton, AB Chowdry, CB Do, DA Hinds, A Wojcicki, JL Mountain.
Criteria for evaluating genetic associations for use in direct-to-consumer personal genetic analysis.
S Wu, G Benton, AB Chowdry, JY Tung, BT Naughton.
Web-based phenotyping for pharmacogenomics research.
K Barnholt, AK Kiefer, TK Acquaye, RB Altman1, HB McLeod2, JA Johnson3, CB Marsh4, JY Tung, JL Mountain.
1Stanford University, Stanford CA; 2University of North Carolina at Chapel Hill; 3University of Florida, Gainesville FL; 4Ohio State University, Columbus OH