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If you were adopted, would you want to know for certain who your biological parents are?  If your family had a history of a particular disease, would you want to know your chances of getting it?  These and other looming questions have major bioethical implications, but for years the answers were locked away in our DNA; always present, but impenetrable to decoding.  As instruments and techniques were developed and optimized, researchers were finally able to sequence individual genes and study their biological roles.  This advancing wave of technology combined with the completion of the human genome sequence in 2001 empowered scientists and physicians with the framework to make swift progress in the field of medicine via the analysis of our entire DNA code.  Despite immense progress scientists have made, the use of advanced sequencing technology has been primarily confined to laboratories and unavailable to the general public.  However, in the past few years several private biotech companies have started offering a "personal genome service" that involves sequencing the most variable portions of our DNA.  The goals are straightforward - to give individuals information about their ancestry and inherited traits.  While there are definite limitations - both technically and bioethically - to the amount and type of information that can be obtained from personal genome sequencing, in my case the service answered a lingering question about something important to me, and thus was well worth it.

In this article, I'm going to tell the story about why I chose to purchase a personal genome service, briefly explain how it works, show my interesting results, and finally, provide some commentary on how these services will impact the fields of genomics and medicine.

I have a twin brother named Matt.  He and I look incredibly alike.  I always believed that we were identical, and the majority of people who meet us agree.  Therefore, you are likely to be puzzled upon reading that whenever anyone asked whether my Matt and I were identical, I would always respond "it's a long story".  You see, at birth my mother's obstetrician told her that Matt and I were fraternal because my mother had two placentas.  Without getting into the scientific details, it was conventional medical wisdom in 1986 that two placentas with twins meant they were fraternal.  This was later determined to not be 100% true, which gave me hope that I indeed was an identical twin.  But throughout my childhood, adolescence, and now adulthood, there always some was lingering doubt.  As Matt and I grew older, we did begin to look a little bit different, especially in face shape.  Now as adults, we started to get more comments from people saying they thought we were fraternal twins.


Baby Mike (left) and Matt (right).  In addition to being extremely cute, we're indistinguishable!


Matt (right) and I (left) at age 9.  Still looking very alike.


Matt (left) and I (right) this past year (age 24).  Clearly still twins, but even I'll acknowledge some differences in face shape.

Now some of you are surely thinking "who cares if you are fraternal or identical!"  My only response is that I think the true essence of being a twin is to be identical; otherwise, you're just siblings born at the same time.  The concept of having someone who shares my exact DNA code (of course, save for mutations that develop over a lifetime or differences in our epigenomes) is just really fascinating to me.  Thus, it has always been important for me to know whether Matt and I are identical or fraternal twins.

Last May, my close friend Pat Nosker informed me about 23andMe, a personal genome sequencing service.  23andMe was founded in April 2006 and has attracted significant investment from multiple companies, including Google (one of 23andMe's co-founders, Anne Wojcicki, is married to Google co-founder Sergey Brin).  Pat and I purchased kits from 23andMe and had a lot of fun going over our results, and several months later I convinced my twin brother Matt to purchase his own kit.  Also, earlier this year I contacted 23andMe about receiving a free upgrade kit for the purposes of this article and they graciously provided me one, so many thanks to them for letting me get the most updated data.  With my results already in hand, once Matt received his we would finally find out if we are identical or fraternal twins.


Before Matt and I could determine whether we are identical or fraternal twins, we had to complete our 23andMe kits.  The main goal is to get some of our DNA into a preservation vial before shipping it back to the 23andMe sequencing lab.  In order to get a sample of DNA, the kit instructions tell each user to swish around saliva in his or her mouth before gently spitting it into the perservation vial.  In doing this, we are removing some of our inner cheek cells, similar to a buccal swab.  After about five minutes of swishing and spitting, there is enough saliva (and therefore cells) in the preservation vial.  In order to preserve the sample, users then close the cap, which punctures a container of preservation fluid and deposits it in to the saliva sample.  After a few quick shakes, the sample is placed in a biohazard bag and ready to be shipped back to the 23andMe sequencing lab in California.


Contents of the 23andMe kit.


Preservation vial before use.  The preservation fluid is contained within the large blue cap.


Preservation vial with complete saliva sample and preservation fluid all mixed up.

23andMe and similar personal genome service companies including Navigenics and deCODEme don't sequence your entire genome.  In fact, they don't even come close: out of the 3 billion base pairs present in the human genome, 23andMe only sequences around 950,000, or just about 0.032%.  What 23andMe sequences are single nucleotide polymorphisms, or SNPs.  SNPs are defined as DNA sequence variations at the individual base pair level.  Variance of single base pairs across our genome are what make us unique, and they are also the causes of many genetic diseases, including the disease I study in graduate school, fibrodysplasia ossificans progressiva (FOP).  Different bases at a particular spot in our DNA sequence can cause an amino acid change in our proteins, and if these mutations occur within an important and evolutionarily conserved active region of the protein, as is the case with FOP, then there can be drastic effects for the organism.

Even though personal genome services sequence a very small portion of your genome, you are still able to learn much about your individual DNA code.  The overwhelming majority of our genome (~96-97%) does not code for proteins, and while this non-coding DNA is far from junk, mutations in this portion of the DNA are generally more tolerated than in our evolutionarily conserved regions.   Therefore, sequencing companies have focused on sequencing SNPs in our coding DNA regions first.  However, the costs for sequencing our entire genome are decreasing every year, and currently it is pretty reasonable, at least in the scope of funded research labs (around $10,000, and perhaps even less).  Experts are predicting that within another 5-10 years, it will be cost effective (around ~$100-200 per person) to sequence everyone's entire genome, and companies like 23andMe, Navigenics, and deCODEme will have to evolve their lab facilities and business models to adjust to changes in the field.

Now that I have explained how to complete a 23andMe kit, as well as how it is processed in the lab, I'm going to let you know how my results turned out.


After a few weeks of waiting, I finally received my results.  Turns out I'm pretty normal.  I have an increased risk for prostate and colon cancer, though not excessively so.  In contrast, I have a decreased risk for melanoma and rheumatoid arthritis.  Other than those diseases and a couple more, I'm actually within the average for the most of the reported diseases, which is encouraging.  However, most of these diseases can be caused by multiple genetic defects, so there always is a bit of uncertainty when it comes to definitively knowing whether an individual will develop symptoms.  For other diseases there is much more absolute genetic linkage (termed penetrance by geneticists).  These diseases are listed in the "Carrier Status" section, and some of the more serious ones (like Cystic Fibrosis) are actually locked even after electronically signing the "you might learn things you don't want to know about yourself" waiver!  I chose to unlock all of the diseases in this section, and luckily I don't have any of the most common SNPs associated with the serious diseases (though, it's important to note, that while lacking any of the common SNPs associated with a disease very likely means you don't have the disease, it isn't 100% certainty, as you may have mutations in the gene that are not sequenced).  Interestingly, I was positive as a carrier for a SNP associated with mild hemochromatosis, or excessive iron levels.  Thankfully the disease is recessive, so I need both copies to present symptoms, but this information is useful for future family planning.


Listed above are some of the diseases assesed in the SNP sequencing done by 23andMe.  Based on my report, I learned that I am a carrier for a mutation causing hemochromatosis.

Though I learned a lot about my disease risks and carrier statuses in my report, I was most interested in finally learning whether I am an identical or fraternal twin.  After my brother received his results in January 2011, I was elated to find out that we indeed are identical twins.  23andMe allows users to share their results with other members, and members who are linked are able to compare their SNPs, disease risk percentanges, and carrier statuses.  As you can see below, Matt and I are 100% similar in our SNPs, whereas Pat and I are only 73.54% similar, which is actually a few percentage points higher than the average human.

One of the cool things about 23andMe is the ability for users to download their raw data.  Since the large majority of SNPs sequenced by 23andMe are not associated with disease (or any known gene function for that matter) at high confidence, the information provided to users on their website covers a small portion of their entire SNP sequence.  This is understandable as customers who may not be well versed in biology or genetics could become unnecessarily alarmed at possessing a SNP reported to be associated with a disease with very low penetrance.  However, for customers who are more knowledgable in genetics and scientific research (like myself), having the raw data allows for additional reporting provided by third-party software.  One of these third-party platforms is called Promethease, run by a wiki-formatted group called SNPedia.  For a very reasonable $2 fee, you can upload your raw data file into the Promethease program and have it scan your SNPs for additional diseases or traits.  Many of the disease reports are of lower confidence than reported by 23andMe, but it still is cool to have the most information possible.

The best feature of Promethease is the ability to run a visual comparison between your data and another person's data.  The result is a visualization of your actual microarray data for each SNP sequenced.  Comparing my chromosome 1 SNPs to my twin brother Matt's, you can see that we are almost the same for the entire array matrix (light green means identical SNPs for both copies of the chromosome; i.e. - the copy from mom and the copy from dad).  There are some dark green spots, which represent a difference on only one chromosome, but there are so few that it they are likely due to sequencing or readout errors.  In contrast, there are many more differences when comparing my chromosome 1 SNPs to Pat's (red spots represent differences on both copies of the chromosome).

Top: Comparison of Chromosome 1 between Matt and Mike.  Bottom: Comparison of Chromosome 1 between Pat and Mike.

Overall, as a result of having my DNA sequenced via a personal genome service I have learned for certain that I am an identical twin as well as some interesting information about being a carrier for a mutation causing mild hemochromatosis.  For me, confirming that I am indeed an identical twin was well worth the cost of the service, and any additional knowledge I gained from it was a bonus.  I definitely learned a lot of information, but there are definite limitations to the service, and it may not be for everyone.  Lastly, I will offer some commentary about the future of personal genomics and how it can still be improved.


It's clear that we obtain a lot of data after sequencing just under 1 million SNPs.  However, the biggest impediment to the field of personal genomics is knowing what to do with all the data we obtain.  There are a solid number of diseases from which we can say with certainty whether someone will develop them.  However, for the vast majority of diseases, there not only are multiple genes that can be involved, but multiple SNPs in a single gene.  This makes analysis of an individual's genome potentially quite difficult.  Add to the mix a relative information gap of genetics and biology knowledge among the general population, and the final result is often confusion.  The ability to sequence our entire genome at low cost will only make the problem worse, as sequencing technology is getting more advanced and cheaper far quicker than researchers are uncovering links between certain SNPs and disease.

Lastly, there are serious bioethical implications about knowing your genome sequence.  Would you want to know for certain that you would get cystic fibrosis or Alzheimer's disease at some point in the future?  Some of the most deleterious diseases are unfortunately also are genetically diagnosed with utmost certainty.  Knowing with certainty at a young age a serious disease is in your future could strongly impact life decisions, such as starting a family.  If I had a family history of a certain disease, personally I would want to know.  There is no greater truth than our DNA, so in my opinion it's better to be prepared than to be uninformed.  These important questions will no doubt start to enter into our everyday family and medical discussions.  The field of personal genomics is still in it's early stages, but it is definitely here to stay.

Originally posted to mconvente on Wed Mar 30, 2011 at 11:47 AM PDT.

Also republished by SciTech and Community Spotlight.

Poll

Are you interested in having your DNA sequenced by a personal genome service?

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Comment Preferences

  •  I submitted a sample to (13+ / 0-)

    23andMe three weeks ago so I'm still awaiting the results. I was recently diagnosed with an auto-immune condition and wanted to learn as much as possible. Plus, from an anthropological standpoint, I have a great deal of curiosity regarding my distant ancestry.

    •  The time can definitely vary (7+ / 0-)

      When I had my initial sample sequenced, the results were finished in only 2.5 weeks.  For my brother, his sample took around 6 weeks to be completed.  And my upgrade sample took around 5 weeks.

      My brother ordered his kit during the week of Thanksgiving when 23andMe had a superb sale on their kits, so they likely got a rush of orders and thus they took longer to complete.

      Obviously, the reason why I had my DNA SNPs sequenced was to determine whether I am an identical twin, and this is clearly on the side of "ancestry".  Though, honestly, beyond that I'm not too interested in my distant ancestry.  My extended family is far from extended, and the closest hits I got from the ancestry portion of 23andMe were 5th cousins, so not much to report there.

      Hopefully you will be able to learn more about your auto-immune condition.  If you feel competent enough, submitting your raw data for third-party analysis via Promethease would really benefit you as well in my opinion.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Wed Mar 30, 2011 at 12:05:06 PM PDT

      [ Parent ]

    •  I submitted a sample, too (8+ / 0-)

      They had a $99 special in December and I signed up then.

      I find it fascinating.  I've been very lucky with the roll of the dice, and seen to have low chances of just about everything.

      I've also connected with cousins with a common ancestor in the late 1800s.

    •  Anthropologically, DNATribes is probably a (0+ / 0-)

      better service for you since it looks at both sides, not just the maternal, and compares to populations all over the world. I've seen some questions about conclusions drawn from the 23nme tests. Any test has strengths and weaknesses, just be aware.

      Information is abundant, wisdom is scarce. The Druid

      by FarWestGirl on Thu Mar 31, 2011 at 09:54:44 AM PDT

      [ Parent ]

  •  I did some testing for genealogy purposes (16+ / 0-)

    First with the National Geographic Genographic project, later with Family Tree DNA and the Sorenson project. These involved testing for SNPs on the Y chromosome, or mitochrondrial DNA, not the whole genome where a lot of the genetic disease markers lie.

    What I was primarily interested in is confirming that I was descended from one Nicholas Knapp, a Puritan who came over in the 1600s. I have genealogy records indicating the fact, but one never knows. Over the last few years several other people have been tested with genealogies going back to Nicholas (very many US Knapps are) and lo and behold, the Y-chromosome SNPs match, barring an occasional SNP difference due to mutation. The way surnames go in this country, if you are a male then generally you will have the same Y-chromosome as all other males in your patrilineal line, all sharing the same surname.

    What I found remarkable about this was that it was 13 generations or so and here was proof that basically there was no hanky-panky or other funny business along the way. Pretty powerful stuff, this genetic testing.

    It wasn't until this fully sunk in though that I realized the pitfall of doing this kind of testing. Nothing is ever proven to a certainty if there is a match, but if there is a non-match, then descent is disproven. You could find out immediately, perhaps, that you are not related to your own father. It's all well and good perhaps to find out that there was some Puritan bed-hopping in the Massachusetts Bay Colony 400 years ago, but more uncomfortable if it's more recent.

    I would think that such paternity/maternity revelations are potentially more upsetting than finding out one has a hemachromatosis gene and such.

    •  There are pros and cons to these services (11+ / 0-)

      The opinions about personal genome sequencing are sure to be heterogeneous.  However, I think some people actually would be more upset at learning they are certain to develop a disease than who their actual biological parents are, especially if that disease is serious (like Alzheimer's).  Hemochromatosis probably won't trump learning your dad really isn't your biological father, but some diseases will.

      Each person will react differently to his or her results, and similar results will also likely garner different reactions and emotions for different people.

      Thanks for your comments.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Wed Mar 30, 2011 at 01:14:29 PM PDT

      [ Parent ]

      •  Isn't it true though (7+ / 0-)

        ...that the cause and effect of these genetic markers is very loose? I.e., they can say that having marker Q doubles your chance of getting Parkinson's, but if the chance is very low to begin with, then 2x is still low.

        •  still useful but need to relax (11+ / 0-)

          There are some people who will be very stressed by high results for certain diseases or genetic mutations. I can say that having an older relative tested as well is good for this. My mother did not get many of the things she was at higher risk to have - diabetes, for example. There are things we can do in life to be healthy even with troublesome genes. Finding relatives is fun if you like detective work. There is always the possibility of finding an "oopsie" that someone has different genetic family from one that is assumed. And if you have redneck relatives, they may be upset to learn they have African-American relatives who are descended from slave owners in the family.(or in my case, I can't find that our family owned slaves but still have A-A distant relatives).

          http://www.etsy.com/shop/lightningtreedesigns

          by Chun Yang on Wed Mar 30, 2011 at 01:30:42 PM PDT

          [ Parent ]

        •  For most diseases, yes. But some are 100% (11+ / 0-)

          For example, the primary cause of cystic fibrosis is a codon deletion (codon = 3 base pairs, which code for 1 amino acid) in the CTFR gene; delF508 (deletion of phenylalanine at position 508).  If you are homozygous for this mutation, you are getting cystic fibrosis 100%.

          Another common example is sickle cell anemia.  People homozygous for a single A --> T SNP in hemoglobin, causing an amino acid mutation of glutamic acid to valine, will 100% get sickle cell anemia.

          Interestingly, people heterozygous for this mutation (i.e. - carriers) are immune to malaria, and this is thought to be the reason why this mutant allele is present with much higher frequency in people of sub-Saharan African heritage, since malaria has been most common in this region of the world throughout human existence.

          You are correct that for many diseases the contribution of a certain SNP to the disease is quite low, but there are examples (some of which I listed above) with a 100% penetrance.

          "Give me a lever long enough... and I shall move the world." - Archimedes

          by mconvente on Wed Mar 30, 2011 at 01:48:25 PM PDT

          [ Parent ]

          •  good info/fear factor (8+ / 0-)

            I just know some people who are fearful of "finding out" things, and my experience is that it is better to know and to do the best with the genes one has. Of course, it was a huge relief to me to find that our son, adopted without medical history, has awesome genes: fast twitch muscles of a sprinter(he is very athletic), can't drink alcohol(dropped my stress level about his impending teen years by 50%), no big mental illness risk factors. Still, if there were things that we needed to watch, I would rather know than be blindsided.
            Not everyone has that predisposition, and I understand that tendencies toward illness and unexplained relatives can be very upsetting for some people. Those are the only cautions I would give. I signed on in 2009 and feel enriched by the information.

            http://www.etsy.com/shop/lightningtreedesigns

            by Chun Yang on Wed Mar 30, 2011 at 02:27:27 PM PDT

            [ Parent ]

        •  The Statistical Models For Risk Still Suck (7+ / 0-)

          The diseases caused by a single gene were 99% discovered without SNP anlaysis. Like Cystic Fibrosis, which was discovered with pedigree analysis and physical gene mapping.

          The idea was that SNP analysis would alllow us to understand multigene diseases through population genetics. This has been a bust. SNPs have been useful when combined with pedigree like data (trios, sib pairs).

          Many experts in the field believe that basic assumptions about SNP  were flawed (in a way that just happened help certain manufacturers sell huge amounts of hardware.)  For a serious critique of the statistics, see "An utter refutation of the fundamental theorem of the HapMap". Francis Collins wrote a paper at the conclusion of the HapMap where in the introduction he said he would refute "An utter refutation of the fundamental theorem of the HapMap", but then he failed to mention it again. Francis is not a popular person, for many reasons.

    •  I remember reading about a hospital in Australia (1+ / 0-)
      Recommended by:
      FarWestGirl

      that for some reason decided to do paternity testing on every single baby and the baby's listed father for some period of time.  I think the deal was that they were only going to share the results with the family if they requested.  Normally, of course, the default is no paternity test, but this was a study to find out the frequency of men being misled about being the biological father.

      It was apparently the only study of its kind, and the result was that 20% of the men who were told they were the biological fathers were not actually the biological fathers.  So at least in Australia, there would seem to be a lot of potential disturbing revelations of the type you mention.

      •  Worldwide, I think the range is 20-30%, so that's (0+ / 0-)

        actually on the low end of the range. Sorry I can't reference that, it's been a while since I saw it and can't remember where.

        I'm surprised that they were able to run that testing without consent of the families. A hospital 'just deciding' to run paternity tests without informing the test subjects is ethically very dicey. OTOH, I'd be interested to know the sample size and the term of the testing.

        Information is abundant, wisdom is scarce. The Druid

        by FarWestGirl on Thu Mar 31, 2011 at 10:11:20 AM PDT

        [ Parent ]

    •  I have known a couple of (1+ / 0-)
      Recommended by:
      mconvente

      interesting situations develop around this testing. One is that a set of twins has 2 dads. Srsly.

      And I know of another case where a family was pressuring members to all do their DNA. But a woman was reluctant to do so, as she knows that one of her kids is not the offspring of who the rest of the family believes it to be....

      These are things you don't hear about publicly much, they don't make the research papers so far.

      And I think non-paternity is going to be much bigger and more disruptive than a lot of people think it is.

      Darwinic pilgrims claim the image fills them with an overwhelming feeling of logic. --The Onion

      by mem from somerville on Thu Mar 31, 2011 at 06:26:17 AM PDT

      [ Parent ]

      •  It could have pretty serious consequences (1+ / 0-)
        Recommended by:
        mem from somerville

        This is pure conjecture, but I can envision that there quite a number of circumstances where the man who has had no reason to doubt he is the father of his child actually isn't the biological father.  Yet it's locked away in secret, I suppose in hopes to keep a family together.

        I'm not judging anyone with this statement, but instances like the above - formerly hidden away in our DNA - are easily unveiled with services like 23andMe.

        It's going to be an interesting decade to see this technology evolve.

        "Give me a lever long enough... and I shall move the world." - Archimedes

        by mconvente on Thu Mar 31, 2011 at 07:24:19 AM PDT

        [ Parent ]

  •  Made me think. (7+ / 0-)
    If you were adopted, would you want to know for certain who your biological parents are?  If your family had a history of a particular disease, would you want to know your chances of getting it?

    Actually, my answers were no and no, but I did enjoy reading the rest of the diary.

    •  Reminded me to include a poll (7+ / 0-)

      I'm actually interested in the thoughts of the Daily Kos community about personal genome services.

      Would you be OK with sharing why you wouldn't want to have your genome sequenced?  You don't have to, but I'm just trying to compile a list of reasons pro and con about people's opinions on using a personal genome service.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Wed Mar 30, 2011 at 01:05:34 PM PDT

      [ Parent ]

      •  Well, part of it is the 'facebook syndrome' (3+ / 0-)
        Recommended by:
        Odysseus, Ultranaut, FarWestGirl

        Once the data is out there, it can show up in places it shouldn't.  Years back, I subscribed briefly to a website that required a monthly credit card charge run through a company called 'ccbill'.  Within six months, I found my username and password from that site on a hacker website in Denmark while google-searching my username for another reason.

        I've shied away from anything involving ccbill ever since.  I wouldn't be opposed to my genome being used in any sort of scientific study, as long as there was no way it could ever be linked to me.  I'd hate for insurance companies to get ahold of it, however.

        But my no and no above were more about my knowing the results, not from actually having my genome sequenced.  I don't think I'd have any particular desire to know who the sperm and egg donors were, if I were adopted, and my general outlook on life is that I'd rather have it be a mystery.  I can think of nothing more dull than knowing your future...

  •  Thanks! Really interesting! (11+ / 0-)

    I studied genetics back in the dark ages of the 90s. It is amazing how far things have come.

    One concern for me is access to this information. What right does a third party have to know your genetic code without your permission?
    We see all the time on TV crimes shows they get a DNA match to solve the crime. But what about employers or prospective employers?

    If you're looking for a job and the company says they test would you agree? What is the extent of coercion if you really want a job?

    What control would you have over your genetic record given how often companies are bought and sold?

    What happens if over time they can determine less physical things and more emotional or personality related things?

    Could you really limit others from getting your DNA given what we have seen from crimefighters picking up used tissues, coffee cups and the like?

    Would you even know if you've scoped out? Would you be able to prove you didn't get a job because of it?

    I can see lots of of good and interesting knowledge with this kind of thing, but I can also see a huge potential for abuse.

    •  Much to consider (11+ / 0-)

      Perhaps the one actual good thing President Bush did while in office is sign the Genetic Information Nondiscrimination Act.  Of course, when it passes 95-0 in the Senate, it's not exactly a trailblazing act by President Bush, but nevertheless the impact is large.

      This act prohibits health insurance companies from using genetic information to deny coverage or raise premiums.  I suppose this is a moot point now with the Health Insurance reform law signed in 2010, since genetic predispositions to diseases could be described themselves as "pre-existing conditions".

      Indeed there are always nefarious intentions by many who seek to discriminate against people in any way they can, but this law provides some protection.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Wed Mar 30, 2011 at 01:22:35 PM PDT

      [ Parent ]

      •  Some protection (2+ / 0-)
        Recommended by:
        mconvente, Bionic

        and I totally support GINA and worked for it. However, 2 things:

        1. It hasn't really been tested yet.
        2. If you take your 23andme data to your doctor and talk about possible pre-dispositions, that becomes part of your "medical record" and then is actionable by insurers.

        Be careful still.

        Darwinic pilgrims claim the image fills them with an overwhelming feeling of logic. --The Onion

        by mem from somerville on Thu Mar 31, 2011 at 07:01:44 AM PDT

        [ Parent ]

  •  Thank you (9+ / 0-)

    This is a type of service I've been interested in but can't quite yet afford. I'm looking forward to the price drops! Your diary is really helpful; I had no idea there were 3rd party methods to extract even more results from your results.

    I am the sort of person who would want to know the chances I may or will develop a particular condition. As I'm not the family type, knowing for the sake of deciding to have children or not isn't a concern but being able to plan in the long-term for my own well-being is very important to me.

    My family also carries hemochromatosis! I've been told it's not common (but not really rare either). It's been explained by relatives as bring a generation-skipper and mine is marked but I'm sure it just appears that way due to the recessive nature. But I would like to know what I inherited there and if I got hit twice or just once (or not at all!) for my own knowledge.

    I realize not every person would do well knowing this type of information; however we are generally very quick to decide other people aren't as able to deal with difficulties and discomforts as we think we are. I prefer making informed decisions and only I can decide when I have enough info to be informed.

    So, thanks again for posting here about this.

    •  Thanks for your comments (6+ / 0-)

      The cost for SNP sequencing is still pricey for many people ($199 at 23andMe, but they require at minimum a year's "update" subscription at $5/month).

      And again, when you're sequencing only 0.023% of the genome, you're missing a whole hell of a lot.

      About third party analysis tools, they definitely aren't for everyone, since the results they spit out are more in the lingo of scientists and may be difficult for most people to interpret, but for $2 it might be worth it to just compile the third party analysis and try to work through it.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Wed Mar 30, 2011 at 01:25:50 PM PDT

      [ Parent ]

      •  23andme is heavy into the bioethics (0+ / 0-)

        scene, they seem to do a lot of talking and thinking about the ethics involved with their product. And they have big-time venture capital backing. Aren't there sellers of these tests, with the secondary level analysis (whatever its shortcomings) included, for a lower price? Seems to me these guys are all highfalutin, but it's only a matter of time until a Fast Eddy-kind of guy gets into the DNA testing biz and mass-markets the shit out of it for $50 a pop.

        I'm in the I-fucking-love-this-guy wing of the Democratic Party!

        by doc2 on Wed Mar 30, 2011 at 09:27:12 PM PDT

        [ Parent ]

  •  a satisfied 23andme user (12+ / 0-)

    I had my genome done, my adopted Chinese son, my mom and brother. My husband does not want to know(dad had lupus). I was also very interested in the relative finder, and even found a few somewhat distant cousins for my son! Some interesting findings for me:
    My 83 year old mother did not get some things she had high risk to get, which is optimistic.

    We found son is lactose intolerant - not something we tested but he did not like milk, so then told doctors.

    I found a fourth cousin who did not know his birth father and through research I located his birth father's family and he connected with them. His parents never married. We still have not traced the family history to find how WE are related, but my ancestors came from Nova Scotia(French Canadians) on one family line, and so did his father's people.

    The medical information has been very useful to me personally.

    http://www.etsy.com/shop/lightningtreedesigns

    by Chun Yang on Wed Mar 30, 2011 at 01:19:52 PM PDT

    •  One sad thing about this is that some (1+ / 0-)
      Recommended by:
      Ultranaut

      day nobody will adopt kids without looking at (what will then be standard) DNA analysis. And for kids with genetic anomalies, real or perceived ticking time bombs, they may have a hard time getting adopted.

      I'm in the I-fucking-love-this-guy wing of the Democratic Party!

      by doc2 on Wed Mar 30, 2011 at 09:29:19 PM PDT

      [ Parent ]

  •  My interest in it (6+ / 0-)

    would be for genealogical purposes, rather than immediate health concerns as the immediate family medical history is pretty much available.

    If I had that done, would the same results also apply to my siblings? Or does it vary from person to person even with immediate sibs?

    Things are not what they seem to be; nor are they otherwise. -- The Lankavatara Sutra

    by Mnemosyne on Wed Mar 30, 2011 at 04:18:35 PM PDT

    •  Depends on the type of sibling and parent genotype (8+ / 0-)

      Full siblings share on average 50% of their DNA since they have a 1 in 2 chance of getting a gene from mom as dad.  If you are a carrier for a disease, there certainly is a chance a full sibling of yours could also be a carrier (or even be homozygous and have the disease).  These percentages would depend on the genotypes of your parents, which is why in order to get a more complete picture your siblings, parents, and even grandparents would have to be sequenced.  Half-siblings (sharing one of your parents) should share on average 25% of your genome.

      This is the same principle behind genetic pedigrees, though until very recently these have been filled out using disease manifestations rather than via genetics.  Add in the fact that many diseases are spectrum disorders and not Mendelian in nature, and it gets really tricky.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Wed Mar 30, 2011 at 05:00:50 PM PDT

      [ Parent ]

    •  These 'personal genomics' tests have to be taken (1+ / 0-)
      Recommended by:
      mconvente

      with a grain of salt and eyes open, most of them only test on side of the family, either paternal, (Y chromosome), or maternal, (mitochondrial), and they only look for narrowly defined things. DNATribes is one of the few that looks at both sides of the inheritance, but they're looking at population distribution, not disease markers. So ask questions and understand the limitations of what you're buying. It's all interesting, ;-), but be careful of what the limitations are.

      Information is abundant, wisdom is scarce. The Druid

      by FarWestGirl on Thu Mar 31, 2011 at 10:37:05 AM PDT

      [ Parent ]

  •  Did The Human Genome Project Kill Pharma Industry? (5+ / 0-)

    It certainly sold billions of dollars in hardware and reagents, at the cost of the jobs of a lot skilled people not doubt. it played perfectly into the corporate mind set that even creative endeavors like science could be turned into an automated process run by trained monkeys.

    Shockingly,  the Human Genome Project only discovered a couple of hundred genes that were not already known (the number has climbed since). So then we had the HapMap, and that didn't live up to its promises, so we had HapMapII.

    Finally we are getting some benefit by combining these new techniques with the old style studies that were supposed to be extinct by now.

    At the end of the day, I don't think you could find anyone that would say old fashioned hypothesis driven science wouldn't have given a vastly bigger bang for the buck.

    Another way to put this into perspective is to remember that the BRCA gene for breast cancer was discovered over 20 years ago, the genetics is still full of ambiguity, BRCAI testing services still suck, and it hasn't led to a "cure."

    •  This is the fault of too lofty expectations (5+ / 0-)

      Scientists have only themselves to blame.  While I am clearly in favor of the shift toward personalized medicine and personal genome sequencing, during the very early stages of this technology the researchers developing it way overstated the benefits this technology would bring, at least for the immediate time.

      I'm reminded of a wave of genome wide association studies that were trendy for a few years starting about five years ago, when full genome sequencing really started to be doable for researchers in terms of cost.  A bunch of GWAS studies were published in Science or Nature about linking certain genes and SNPs to diabetes and autism.  And despite clear genes and SNPs pinpointed, the genetic contribution was at best around 8% or something super low like that.  While there are common mutations that appear in BRCA, tons of mutations in a homologous recombination repair (HRR) gene could be carcinogenic, and at different severity.

      Not sure what you mean by testing services still suck, unless you're referring to the patent on the BRCA genes (and thus ridiculous test costs).  The ability of genes to patented is being litigated now, though.

      And I always caution against using the word "cure", especially when dealing with cancer.  The problem with BRCA is that other than an overactive growth factor receptor driving aberrant cell growth that can be targeted by a small-molecule inhibitor, there isn't any easy way to add back a loss of function HRR gene.  I suppose the real wave of the future is gene therapy and replacement.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Wed Mar 30, 2011 at 05:10:20 PM PDT

      [ Parent ]

      •  I'll Disagree With Your First Sentence (8+ / 0-)
        Scientists have only themselves to blame.

        No, this was cooked up by Francis Collins and the hardware manufacturers to sell huge amounts of hardware.

        There wasn't a groundswell of scientists demanding factory style automation of science. Keep in mind the number of scientists that would have any say in this would have been a couple of hundred people. It was about getting money changing hands.  The pharma companies did not make these strategic decision based on the urgings of their staff scientists, they were sold this by their vendors.

        The perfect analogy is "the cloud" which is nothing new in the way of technology, but just a way to get get companies to spend money on servers.

  •  I guess in the future a dating website (12+ / 0-)

    would list all of these genetic propensity:

    "
    obesity: low risk
    heart disease: low risk
    diabetes : low risk
    altzheimer's: moderate risk
    alcoholism: low risk
    ..
    ..
    "
    Oh yes- I also enjoy long walks on the beach and Carribean food.

  •  When does testing take place? (3+ / 0-)
    Recommended by:
    Larsstephens, walkshills, mconvente

    I think that is key. In addition, what does one do with the information? I've seen people who had histories of certain diseases in their families and it didn't seem to improve their quality of life.

    There is more than disease to consider. What about intelligence? Temperament? Sexual orientation? Now were on a far different path.

    What would an ideal breeding profile look like? How much would it cost? What happens if you fall in love with someone but later s/he is found to have the wrong mutation?

    This is an area that is ripe for good intentions going horribly bad.

    "Most people would sooner die than think; in fact, they do so." ...Bertrand Russell

    by sebastianguy99 on Wed Mar 30, 2011 at 05:29:37 PM PDT

    •  I would want the information. (2+ / 0-)
      Recommended by:
      mconvente, FarWestGirl

      What if you find out that you are going to get Alzheimers, wouldn't you want to know so you could plan ahead?

      I'm in the I-fucking-love-this-guy wing of the Democratic Party!

      by doc2 on Wed Mar 30, 2011 at 09:21:05 PM PDT

      [ Parent ]

    •  Many bad events have followed good intentions (0+ / 0-)

      While continued research will likely make it easier for people to select a mate in the hopes of having a "genetically healthy" child, it's not like this stuff isn't happening already.

      There have been advertisements in the Philadelphia subway stations asking for sperm donors.  But only those who have a college degree, are healthy, and between the ages of 18-39 are allowed to donate.  The correlation between someone who graduates from college and their intelligence is not perfect, but it is strong enough that these types of restrictions on sperm donors is essentially selecting for "better" DNA.

      While there will always been a (hopefully) small percentage of the population corrupting tools of good for bad, honestly my bigger concern is the millions of people who will have no idea what to make of their own results because of the active attack and destruction of science education across America.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Thu Mar 31, 2011 at 05:58:17 AM PDT

      [ Parent ]

    •  Sexual orientation is epigenetic, dna is not (0+ / 0-)

      predictive. Current evidence supports in utero factors during development orient the innate urges toward the same sex, rather than opposite. The the strength of the orientation varies in the individual, but the outer ends of the continuum are not malleable. Otherwise, very good points. :-)

      Information is abundant, wisdom is scarce. The Druid

      by FarWestGirl on Thu Mar 31, 2011 at 10:51:53 AM PDT

      [ Parent ]

  •  For birthdays this past year, (8+ / 0-)

    we gave 23andme kits to both my mom and my grandfather (dad's dad). It was pretty damn neat. I found out that my maternal haplogroup (V) is most common among the Saami--it makes sense, my mom's Norwegian, but we weren't aware of any (potential) Saami ancestry.

  •  You think this is a good business these (1+ / 0-)
    Recommended by:
    mconvente

    guys are in (23andme)?

    I'm in the I-fucking-love-this-guy wing of the Democratic Party!

    by doc2 on Wed Mar 30, 2011 at 09:08:09 PM PDT

    •  They are building for the future (0+ / 0-)

      In the present, companies like 23andMe are branding themselves toward a few certain groups of customers.  The first group are customers who are interested in their ancestry through more biological means than through classic genealogy, and I would think this is the largest customer base.  The other customer groups include people who want to learn about their inherited health risks, and then the last group are people who are just curious to see what results come up (which best describes me, even including the whole identical twin thing).

      However, what 23andMe is doing is positioning themselves to be the go-to lab when this type of technology does become more mainstream in medicine.  When they'll actually start making lots of money is when they are in the business of processing samples ordered by physicians rather than those ordered by a curious individual.

      "Give me a lever long enough... and I shall move the world." - Archimedes

      by mconvente on Thu Mar 31, 2011 at 05:43:38 AM PDT

      [ Parent ]

      •  That's what I was thinking. (0+ / 0-)

        As a grad student, do you know if the machinery they use is expensive? they've raised a bunch of money, and other than for marketing I'm not sure why this business would require so much. Is this a business you'd like to be in?

        I'm in the I-fucking-love-this-guy wing of the Democratic Party!

        by doc2 on Thu Mar 31, 2011 at 09:53:08 AM PDT

        [ Parent ]

        •  Yes, but not outstandingly so (0+ / 0-)

          Individual SNP sequencing machines probably aren't more than $1 million, and I'd bet that some are even less than that since there are tons of labs sequencing SNPs to look for associations to disease.  The big cost would be to have enough machines to have the capacity to sequence many, many samples.  And honestly, their marketing costs are probably negligible.  I mean, when's the last time you even saw a 23andMe banner ad, not to mention one on radio or TV.  They generate the overwhelming majority of their current business through word-of-mouth and blog posts (I guess like this one).

          Since I'm not in graduate school for genetics, I'm not really interested in this type of thing as a business venture I'd be interested in developing or even working for.  Honestly, most of us grad students and researchers (including myself) really are in the field of science simply to add to the knowledge bank of research.

          "Give me a lever long enough... and I shall move the world." - Archimedes

          by mconvente on Thu Mar 31, 2011 at 11:04:00 AM PDT

          [ Parent ]

          •  Thanks. (0+ / 0-)

            Hear you on the research focus. But there's nothing wrong with scientists getting involved in products that have immediate use by society, and that can carry with it well-earned monetary rewards. But it's got to be interesting, and if this isn't interesting, from a scientific point of view, you are right to avoid it.

            I'm in the I-fucking-love-this-guy wing of the Democratic Party!

            by doc2 on Thu Mar 31, 2011 at 02:47:10 PM PDT

            [ Parent ]

  •  into the future (2+ / 0-)
    Recommended by:
    mconvente, FarWestGirl

    I've had a 23andme kit sitting on my desk for months. I keep putting it off because I'm scared to know.

    On the topic of radical advancements in the technology, check out what Halcyon Molecular has going.

  •  Forget About 23 and Me (0+ / 0-)

    Go with Complete Genomics. I work in the genomics field. Nasdaq symbol GNOM. Trust me ; ) I'm a shareholder!

    •  From Wiki- (0+ / 0-)
      In early February 2009, Complete Genomics released a full sequence of a human genome that was sequenced using their service. The data indicates that Complete Genomics' full genome sequencing service accuracy is just under 99.999%, meaning that just one in every one hundred thousand variants was called incorrectly. This means that their full sequence of the human genome will contain approximately 80,000–100,000 false positive errors in each genome. However, this accuracy rate was based on Complete Genomics' sequence that was completed utilizing a 90× depth of coverage (each base in the genome was sequenced 90 times) while their commercialized sequence is reported to be only 40×, so the accuracy may be substantially lower unless they can find some way to improve it before their first service release planned for the summer 2009. This accuracy rate may be acceptable for research purposes, and clinical use would require confirmation by other methods of any reportable alleles.[59][60] Complete Genomics announced in Dec. 2010 that for the last 500 complete human genomes that it had sequenced, an average of over 98 percent of the genome was read at 10-fold or greater coverage. In addition, its software made high confidence calls of an average of over 95 percent of the genome and over 94 percent of the exome.
       linky

      Information is abundant, wisdom is scarce. The Druid

      by FarWestGirl on Thu Mar 31, 2011 at 11:02:59 AM PDT

      [ Parent ]

  •  23andMe user here (2+ / 0-)
    Recommended by:
    mconvente, justalittlebitcrazy

    I find it endlessly fascinating.

  •  Nice story! (1+ / 0-)
    Recommended by:
    mconvente

    I got my data in the big pre-Christmas sale. But I won't talk about it publicly. I don't think adequate protections are in place to protect from misuse of the data.

    I'm stunned at what people will just say over at the 23andme boards. When we know that scrapers are coming after these sites.

    I've also seen errors in the 23andme interpretations.

    On my own I did find a very interesting issue that probably affects my family. But it's not in the 23andme site, found it separately.

    Darwinic pilgrims claim the image fills them with an overwhelming feeling of logic. --The Onion

    by mem from somerville on Thu Mar 31, 2011 at 06:16:56 AM PDT

    •  oh, by the way (1+ / 0-)
      Recommended by:
      mconvente

      I've been crazy busy with travel lately and found this diary through my genomics tweeps ;)

      Ha! good timing! MT @dgmacarthur: Cool writer at DailyKos used @23andMe test to confirm he and brother identical twins: http://bit.ly/...

      Darwinic pilgrims claim the image fills them with an overwhelming feeling of logic. --The Onion

      by mem from somerville on Thu Mar 31, 2011 at 06:18:52 AM PDT

      [ Parent ]

      •  Ha, neat! (1+ / 0-)
        Recommended by:
        mem from somerville

        I've been following @dgmacarthur for a while on Twitter (I also subscribe to Wired), but I guess I missed his tweet throughout the day.

        Pretty cool to have my story make it around the internet.

        "Give me a lever long enough... and I shall move the world." - Archimedes

        by mconvente on Thu Mar 31, 2011 at 07:27:18 AM PDT

        [ Parent ]

        •  Dan and I talked (1+ / 0-)
          Recommended by:
          mconvente

          at the last ASHG meeting. We differ on some things on the legal and social aspects of personal genomics. But his science is solid.

          Do you read their Genomes Unzipped blog? Also good. Excellent post recently on a look at more variants than 23andme did: At odds with disease risk estimates.

          Darwinic pilgrims claim the image fills them with an overwhelming feeling of logic. --The Onion

          by mem from somerville on Thu Mar 31, 2011 at 07:50:41 AM PDT

          [ Parent ]

          •  Haven't seen it before, will check it out (1+ / 0-)
            Recommended by:
            mem from somerville

            I'm not really a geneticist, more of a molecular and developmental biologist (in training!), so I've been focusing more on blogs and commentary regarding those specialties.  But I'm at least familiar enough with research-level genetics that I think I would gain some knowledge and insight from the Genomes Unzipped blog.

            I think it's pretty clear that SNP sequencing companies like 23andMe, Navigenics, deCODEme, etc. are going to cater to the general population rather than the likely small subset of researchers using their services.  At least 23andMe gives us the ability to download our raw data, so if we want more powerful analysis tools we can create them ourselves, like Promethease, and that's not really that more advanced than what 23andMe offers themselves if you really think about it.

            "Give me a lever long enough... and I shall move the world." - Archimedes

            by mconvente on Thu Mar 31, 2011 at 08:58:53 AM PDT

            [ Parent ]

  •  Not To Get Snippy Regards 23 And Me (0+ / 0-)

    But the quality of any lab depends on the output of their lowest paid workers with the least seniority.

    Case in point was when 23 swapped plates and delivered the wrong results for a patient.  The same thing happened in the human genome project on a larger scale.

    A company has to be willing to pay for QC.

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