Why are we diverse…hmmm…Would you get your genome sequenced?
As we all know, we are capable of anything! We are currently going through one of the most exciting times in Science right now where the technology we are using seems to be out of this world. We are learning new things everyday about ourselves mentally, physically,… genetically? What am I talking about…..well well, have you ever thought….what exactly am I made of and why am I different from everyone else? Let’s begin from the beggining, you are made of DNA (deoxyribonucleic acid) that is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). Now, lets talk about GENES. A gene is the basic physical and functional unit of heredity. Genes that are made up of DNA, act as instructions to make molecules called proteins. Now lets talk about your GENOME. A genome is an organism’s complete set of DNA, this includes all of its genes. The genome contains all of the information needed to build and maintain that organism. Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people.
Where am I going with this. In April of 2003, the Human Genome Project (HGP) was completed. To make a long story short there were to two projects an international public-sector (collected blood from female and sperm from male donors) and Celera Genomics private-sector project (few different genomes was mixed and processed for sequencing. Craig Venter, the lead scientitst has since acknowledged that his DNA was among those sequenced. Soooo its HIS sequence! My opinion and others…). Anyhow, since then many genomes have been sequenced from bacteria to mouse. Currently, there have been 5 genomes sequenced, including Ventor, Watson, Xinhua-Han (Chinese genome), Yaruba (African Genome), and some Korean dude (as my mentor names him).
Currently, one can pay for your genome to get sequenced by companies like 23andme, deCOde Genetics, and Navigenetics for about $1,000-$3,000 or so. There have been criticism about these types of at home personal DNA testing. Several brave souls have gotten their genome sequenced by two of these methods and have found some similarities and more differences. Dr. George Church, a professor of genetics at Harvard Medical School is running a Personal Genome Project. Its mission is to “encourage the development of personal genomics technology and practices that: are effective, informative, and responsible,yield identifiable and improvable benefits at manageable levels of rik , and roadly available for the good of the general public.” Their goal is to enroll 100,000 informed participants from the general public, focusing on technology, science, ELSI (ethical, legal, and social issues), health care, personal knowledge, and products. Currently, they have already sequenced the first 10 participants called the PGP-10.
This means YOU, yes, YOU, can get your personal genome sequenced!!!My question here is would YOU be interested? If you either had to pay for it or get it for free? Many people I asked have replied saying, o no way! Why…fears of getting your genetic information displayed publically, insurance companies finding out your at risk of diseases, your job finding out your at risk of diseases, your family finding out your at risk of diseases, or you finding out your at risk of diseases.
As a student of Genetics and this growing field of NextGen sequenceing and personalized medicine….Yee Haa, I totally would! I actually already submitted my name to the PGP as a participant. I am curious however as to how they are going use my information. Can you beleive how much info they are going to obtain!
My main point………..What questions would you ask?
Maybe some of these pertaining to diversity…………….why are we different, is it in our genes?, what genes may dictate race/ethnicity?, if we are of a certain race/ethnicity do we have genes that put us at a higher/lower risk for diseases?, does our race even matter?
OR Maybe these……..why am I short?, why can’t I run a marathon?, why don’t I like reading?, or why don’t I like onions?
OR positive ones……why am I great at science?, why can I dance my tail off in rythm all night and not be tired?, why can I ask silly questions and be really loud and not be embarressed? 
All I do know is that we all are different in our own way. We can all accomplish our goals and conquer our dreams. Here at Mayo Clinic there are people from all over the world who work here, learn here, and live here. We are at the leading edge of science and we certainly are pushing forward. Currently, Mayo contains several NextGen Sequencers (i.e. Illumina) and are anxiously awaiting a SOLID system. As a graduate student you get to see these accomplishments in action and sometimes be a part of it. Me…I’d rather be apart of it!! Jess
Tags: 23andme, DeCode, Diversity and Sequencing, Genome, George Church, Jess, Jess and NextGen, Jessica Silva and Mayo Clinic, Mayo Clinic and sequencing, navigenetics, NextGen Sequencing
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September 21, 2009 at 10:54 pm
Jessica, do you know how the PGP plans on relaying sequencing data back to its participants? Because I think that’s crucial. For example, do they just return the raw data? Or do they provide the participants with some sort of interactive computer software program that guides them through various portions of their genome and explain what all the letters meant. And how reliable is that software? My worry would be that it would over-simplify things too much, and that without proper guidance, people with non-scientific backgrounds might begin deducing things from their genome that are false (in a way that becomes counter-productive to scientific progress). It might even be the case that scientists themselves deduce things that are false (it happens!). In general, I think it’s dangerous to overwhelm a largely non-scientific audience with large amounts of scientific data, much of which scientists don’t completely understand themselves (think about the ongoing vaccination “controversy”).
On a lighter note, if it WERE possible to be able ascertain such a thing from my sequenced genome….I would like to know which genes I have to thank for my mad dance skillz, and from whom I inherited these genes (I have a feeling I got it from my mamma, but it’d be nice to have some empirical evidence to back that claim up).
Anyways, thanks for the cool post- it definitely got me thinking!
September 22, 2009 at 10:56 am
Hey Jason,
From what I read in the consent (http://www.personalgenomes.org/consent/) form about the PGP is they send you your entire DNA sequence raw data(password protected) as well as a Preliminary Research Report (looked at by healthcare professionals) that they explain the results to you. They go through this report with you and you decide to submit it to the public at this point or not. Once this is determined you send more tissue and cell samples and they do further tests. One positive note, is that right now you can actually see the PGP-10 data (first 10 to go through process) online publically. I of course tried to read it, however one does need to download a program and then know how to use it. I have used other software programs for tiling array data (Integrated genome browser) and this PGP software will take time to learn how to use. So if your really frightened about the data being online one really must put effort into your sequence to pull out info. Another positive aspect about the PGP project, is that they do a “Safety Questionaire” 3 months after your data is online and published publically. These questions include if you received negative/positive feedback from employers, friends, family, or have been contacted by someone online, and if you received treatment or interventions from the data you received.
About the software….I totally agree with you on that. Right now, with NextGen sequencing the problem is actually reading and understanding the data. You have soo much info in your hands and have no clue what it means and what to do with it! Technology is running way ahead of us!!
Thanks for the comment!
Jess
September 22, 2009 at 3:35 pm
UPDATE:: I have now gone through the second process of eligibility…………..!!!!!!!! Lets see if I get 1) accepted, 2) waitlisted, or 3) rejected. Only time will tell!!!!!
September 26, 2009 at 4:56 pm
The genome contains all of the information needed to build and maintain that organism. Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people.
October 6, 2009 at 8:39 am
I know something new today from that post. Really nice information for me. Thanks.