since you asked me about 23andMe genetic analysis

Parent Cafe
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<p>On another thread (statins) someone asked me to elaborate on 23andMe, a genome analysis company. Our whole (nuclear) family has now been analyzed. There are two components – the ancestry part and the health part. For the ancestry, all your chromosomes are analyzed and compared to other users so you can find distant cousins and fill in your family tree (popular with those into ancestry stuff). There is also a health component that analyzes risk for various diseases, carrier status for rare disorders, drug reactions, and physical traits. There is a pretty active discussion community. Their prices keep changing, but I think it is $300. You have to spit into a special test tube and send the sample away, then you get your results about 6 weeks later. </p>

<p>I have really enjoyed it, but I also have a science background, and came into it understanding the basics of genetic inheritance. I think that makes it easier to understand. The website is:
<a href=“https://www.23andme.com/[/url]”>https://www.23andme.com/&lt;/a&gt;&lt;/p&gt;

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<p>Thanks! I had seen a TV series where they used that company to trace the ancestory of famous people but had forgotten the name.
I’m going to look into it.</p>

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<p>Who provides the genetic counseling component?</p>

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<p>Interesting. We know nothing about my grandfather’s family. He refused to talk about his family back home and he immigrated to America for the first time when he was 14 (said he was 18). We’re pretty sure the entire family was killed in the Holocaust, which is why he wouldn’t talk about it. I’d love to know where we actually came from. He was always so secretive. </p>

<p>But I’m not willing to pay $300… yet… </p>

<p>Thanks for sharing :)</p>

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<p>Can you explain more about what you learned about the health history? I’ve done the National Geographic Genographic project so I have some of my genetic history on my maternal sides, but just a little more on my longevity and other side tests that I purchased later. Did you learn anything about your health that you didn’t already know?</p>

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<p>I just read an article about this company a couple of weeks ago and have been debating over whether or not to shell out the $300 for the test. Today I decided to go ahead and do it. I’m very interested in what it can tell me but a little apprehensive about it, too. I’m hoping my husband will decide to do it, as well. I think the genetic information we gain would be important for our kids to know about.</p>

<p>I didn’t know about the blog - thanks for pointing it out :).</p>

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<p>“I think the genetic information we gain would be important for our kids to know about.”</p>

<p>When you go to a doctor for a checkup, you get a thorough explanation of what any abnormal numbers in your blood work might mean and what needs to be done as a follow up. Does this co. provide similar type of counseling? Do they refer you to a doctor and/or genetic counselor or do they just spit out the sequencing results leaving you on your own? If you are on your own, do you have the background to be able to interpret the meaning and potential consequences of the results (I do not mean the ancestry part of the test)?</p>

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This is one of the main criticisms of 23AndMe. If I am remembering correctly, they do not have genetic counseling services available, but there are other companies who provide genetic counseling services for a fee, such as Pathway Genomics.</p>

<p>Honestly, the lack of genetic counseling services was not a big dealbreaker for me. I chose to have the genotyping done after participating in a few graduate courses in molecular and cellular biology, and felt my background in clinical research provided enough background to evaluate the results accurately. Yes, it was scary to open some of the info. (for especially sensitive tests, such as some of the BRCA mutations they test for, you are required to “unlock” the test results and can choose not to see them if you do not want to).</p>

<p>For what it’s worth, I’ve had my results about 6 months now, and I feel it has been an enjoyable experience for me, but I’m not convinced about clinical relevance of the results yet. There simply seems to be too much data (23AndMe provides access to download your raw data, which provides info. about ~1,000,000 SNPs) to make firm predictions and/or conclusions in most cases. I’ve found 23AndMe’s “risk predictions” to be overly simplistic in almost all cases – often narrowing down disease risk to results of just 1 or 2 SNPs, which seems unlikely, given complex nature of most diseases. Add into that the epigenetic effects affecting gene expression, and the overall clinical picture gets even cloudier.</p>

<p>For somebody like me, who’s been referred to 6 neurologists in 6 months, and still can’t seem to get a firm diagosis on mysterious neurological symptoms, the data seems to have been both a blessing and a curse. After abnormal brain MRIs led doctors initially to suspect MS, I spent a weekend trying to figure out if their preliminary diagnosis was correct based on my results for hundreds of different genetic variants (my genetic results appear to show I have lower risk compared to general population). Since I received that diagnosis via an online message on a Friday evening, it’s possible that even without genetic results I would have spent a weekend somewhat obsessively searching whether the diagnosis seemed to fit, but hard to say.</p>

<p>A few weeks later, after another doctor suggested it could be Wilson’s Disease instead, I was happy to be able to “check” my genetic results that night and identify a confirmed Wilson’s disease-causing variant (in ATP7B gene). But, clinical results did not match up with genetic results, so I am still searching for diagnosis (ironically, doctor’s have referred me now to specialist in sleep disorders based on another extremely rare genetic variant I had). If it does in fact turn out to be related to the sleep disorder, that will likely affect my feelings about genetic testing significantly. Prior to my mention of the variant, nobody suspected it (very, very rare in adults), but after awkwardly suggesting it, doctors have acted quickly to begin testing for that diagnosis. No doubt in my mind that it wouldn’t have been anywhere close to their radar for years, if not decades, had I not had the genetic results available to me. </p>

<p>Other interesting findings have related to CYP2D6 mutations (explaining many of the adverse effects I’ve experienced with certain drugs, despite being told they were likely psychosomatic / “all in my head” previously), salt-wasting disorders (providing a somewhat plausible explanation for my frequent hyponatremic episodes), ancestry findings, and more.</p>

<p>At this point, everything is still mostly just “interesting” to me, and not yet entirely useful, but I think that it’s beginning to change now, as genetic testing becomes more and more available (rate of development in sequencing technologies actually exceeds Moore’s Law now, iirc).</p>

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<p>(Ugh, I hate when cc logs me out after I have typed a long message!!)</p>

<p>The previous post (#8) actually explains a lot, and I agree with much of what’s in it. The most significant things I discovered health-wise is that I am at higher than average risk for macular degeneration, that I have some drug sensitivities (like the statin one), and that I am definitely lactose intolerant and a fast metabolizer of caffeine. It also pegged me correctly as being a carrier of a deafness-causing gene, but I already knew that. (Incidentally, a test for just that gene alone through a doctor would have been far more than the $300.) I was also relieved to find I did not have some other things, like ApoE4, which is linked to Alzheimer’s, and that I don’t have some alcoholism-linked variants.</p>

<p>The ancestry component is far more interesting and informative than what Nat’l Geographic offers. At least as of a couple of years ago, I think they only had info on the maternal line (mitochondrial DNA) or paternal (Y chromosome), but this only takes you through one set of grandmothers (or grandfathers), and ignores all the others to which one is equally related. Since 23andMe compares all chromosomes, you can find 3rd cousins (or closer) through the service. Yes, some people on the forums at the site have discovered that they have a different father than their brother/sister, etc! People who are adopted find it useful.</p>

<p>@BunsenBurner - I, for one, would be really disappointed if access to my genetic information was regulated. This is my data about me, and I should be the one to decide if I am fit to deal with the consequences of knowing anything good or bad about my health or heritage. I don’t need protection from this information.</p>

<p>@romanigypsyeyes – it is definitely possible to find out if you have Ashkenazi heritage or not. I had a secretive grandmother too, and secretly thought she may have been Jewish but did not want to admit it because of fear of persecution (she lived through WWII in Europe). But I found out she must not have been. I have very few distant cousins on the site of Ashkenazi descent – about the number one might expect for a random European to have.</p>

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<p>"…This is my data about me, and I should be the one to decide if I am fit to deal with the consequences of knowing anything good or bad about my health or heritage"</p>

<p>Yes, and your blood test data is YOURS only. I do not question that part. I am skeptical as to whether an average American citizen is able to interpret and use the data. The poster above had graduate level education in genetics, which, coupled with background in clinical data analysis, makes her more educated and fit to judge the risks associated with certain mutations than a typical customer of that co. without her background.</p>

<p>Let me rant about somewhat related issue: the proliferation of testing facilities that provide “anonimous” bloodwork and STI testing for a flat fee, no medical history or questions asked. I can see a person going in there, getting a negative test, declaring him/herself free of that particular disease with dire consequences. What if the test was done during a period when the pathogen was present yet was not detectable? What about follow up testing? A false positive result? These places do not give you any guidance, just a printout wih numbers.</p>

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<p>LB- The other side of my family is Jewish. My grandmother was shipped to America with another family right before everything started in Germany. Her family intended to follow but they never got the chance. </p>

<p>The side of my family that was secretive is my mom’s side. We know he was Gypsy, not Jewish. He was very proud of who he was, we just think it was too painful for him to remember what happened. He was very, very dark skinned- even for a Romani (which led to quite a shock when my lily white British grandmother brought him home to meet her mom and dad… they thought he was black and that was apparently very unacceptable)- so I would love to know our true heritage. </p>

<p>My mom also knows very little about the medical history of her parents’ family. My grandparents died pretty young (early 60s) and there are very few people who live late in life on her side. And on my dad’s side, two of my cousins have inherited genetic conditions- there are only 11 cousins total. Before I try to have kids, I WILL get tested to see what I’m carrying. I already know I’m likely Tay-Sachs carrier (my dad is, mom’s not).</p>

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<p>So for $300 you get all of the information? Ancestral/Health/Drug Metabolizing info? Wow that is cheap. I know people who have had it done for research purposes/ill child with no known cause and the info they have gained has been enormous.</p>

<p>Unfortunately, NYS residents, because of Nanny state are unable to purchase.</p>

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<p>@Bunsen or anyone else who is curious about the form of the information on 23andMe, I think, can make an account and see sample reports. There you will see what the format is. I think they try and make it pretty straightforward. There is a forum and health topic specific threads. I think that the reports are pretty straighforward and if a person can understand that the overall risk in the population of developing ___ disease is 0.5% and your estimated risk is 1.5%, then you have a slightly than average greater chance, etc. I also have a bio/chem background and work in the health care field, so it is not hard for me to understand, and perhaps hard to judge how hard it would be for someone without this background. </p>

<p>@samiamy Yes, for $300 you get all the health info and the ancestry info. What is interesting is it has a Relative Finder feature. It matches you to others with whom you share stretches of DNA – distant (or not so distant) relatiaves. When I started on the site 2 years ago, I think I had 37 relative matches. Now I think it is close to 200, so there has been some growth. (A lot of people start with 200+, I just am from a less well-represented population.) Many of the found relatives are anonymous, and you can reach out to them and introduce yourself, but often people don’t write back. There is also an option to be a “public match”, so those people, you do get to see who they are (to the extent that you are willing to share info.)</p>

<p>The other thing I am enjoying is realizing that we ALL are connected. My husband and I found a common distant cousin, even though my husband and I (with ancestries from different parts of Europe) are not related. I think we are all closer than we think. I have certainly found matches to people all over the world, not just Europe. These are just short stretches of DNA, and may go back to a common ancestor 600 years ago, but it is still pretty cool to think about.</p>

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<p>…@romanigypsy – For Carrier Status, they test for about 50 recessive genes one could pass on including Tay Sachs, sickle cell anemia, cystic fibrosis, some clotting disorders…</p>

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<p>While I certainly agree with some aspects of this statement, I’d argue that having testing done by 23AndMe does not preclude an individual from seeking an expert opinion on the possible clinical relevance of the results. 23AndMe explicitly mentions in their Terms of Service (<a href=“https://www.23andme.com/about/tos/[/url]”>https://www.23andme.com/about/tos/&lt;/a&gt;) that the data is “for research, informational, and educational use only” and that they “do not provide medical advice.” Sure, it’s possible that some individuals may take it as advice about their health anyway, but people already receive plenty of non-doctor “medical advice” everyday. I’ve seen posts here on CC that certainly could be considered “medical advice” as well as articles in magazines, segments on tv, opinions from well-meaning friends and family, etc. With so many Americans lacking a PCP these days, I’d actually argue a significant proportion of the population receives their “medical advice” from non-doctors.</p>

<p>And, even in the ideal situation, if they are reliant on medical advice from their PCP, there’s no guarantee that clinically significant results will be communicated in a timely manner (I believe ~10% are not, iirc), that the doctor will interpret the results correctly (not always simple given the time pressures they’re often under), and even that the patient will understand the advice and follow it as it was intended (patient compliance can be a big issue).</p>

<p>I may be biased because I really enjoy having an opportunity to be active and engaged in my healthcare. I like learning about the body works, researching studies, and forming my own opinions in collaboration with my PCP. I react very poorly to opinions that I need to be “protected” from my own health information, that I couldn’t possibly understand it, etc. I realize my doctors know far more than I do about most things, but I also realize they may not always be up to date on the most recent research in a certain area, able to keep track of small details about my life that could be relevant, etc. I always try to be humble/respectful, avoid using medical terminology, and not too pushy, but also try to genuinely show that I am interested in learning about my health, respect their opinions, and wish to be involved in the decision-making process.</p>

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<p>Does anyone know whether the 23andme analysis would be considered a qualified medical expense that can be paid from an HSA account?</p>

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<p>Yes, BB, but the alternative to most that are going that route is to not get any testing whatsoever. I’d much rather people get some form of testing for things like STDs than nothing at all.</p>

<p>LB, yes those are the things I will get tested for. Whether it’s 23andme or some other genetic analysis. I really hate not knowing my family medical history.</p>

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<p>So last week my dr gave my the brochure for genetic testing for BRCA. She feels strongly that I should get tested so that my daughters have information for future health care decisions. She feels sure that my insurance will cover the test, but if not it’s about $3600. She has no financial stake in this lab and is happy to recommend another. </p>

<p>So, the question is…knowing that I have a science background, lots of research skills and family members in genetics to advise me afterward, is this test the same ? is there a big variation in quality?</p>

<p>I’m tempted, especially since I don’t trust that current laws will really always preserve privacy.<br>
Plus, the ancestory stuff would be cool to look at.</p>

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<p>This is a bit off topic, but let me address what you said, romani. These for-profit screening boutiques are not offering affordable testing, their tests are not covered by any insurance and are cash only, so they would be off limits for people without deeper pockets. A person getting tested without any prior counseling can get a negative result if the test is done at the time when the pathogen is still present in quantities below the detectable limit, assume that everything is OK, and NOT get re-tested at a later date. A doctor (or an experienced nurse practitioner) would ask questions and recommend the course of testing with the needed followups - or at least that’s how it should ideally work.</p>

<p>"…the data is “for research, informational, and educational use only”" - you bet, or they will be shut down by the FDA faster than one can count the human chromosomes.</p>

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<p>To dragonmom: Here’s what it says on the 23andme web site:</p>

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<p><a href=“23andMe DNA Testing Kit for Health + Ancestry - 23andMe”>23andMe DNA Testing Kit for Health + Ancestry - 23andMe;

<p>So basically it looks like the 23andme test would be useful screening tool for women with Ashkenazi Jewish ancestry. (I fit that category, and do not know of any cases of breast cancer in a near relative, so it probably would make sense for me to go that route – that is, I probably don’t carry the gene, but if I did, this screen would probably find it)</p>

<p>I think you should ask your doctor more info about the screen she is recommending – how many mutations are included in that screen? Plus, double check with your insurance about what they will cover – or ask your doctor to get authorization from the insurance before ordering the test. And check your policy about how much they pay for lab fees – the doctor isn’t thinking about your deductible or co-pay, but if a test costs $3600 and your insurance plan has a 20% copay (for example) – then you would be on the hook for $720. </p>

<p>The reason 23andme is relatively cheap is that they don’t do as comprehensive a screening as possible. They are screening for the most common mutations, but they are not warranting accuracy of results and are not looking for thousands of possible genetic variants that are more rare.</p>