Tag Archive for '23andme'

Guest post: 23andMe’s “designer baby” patent: When corporate governance and open science collide

08/10/2013
Categories: Guest Posts
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portrait6_cropped_2Barbara Prainsack is at the Department of Social Science, Health & Medicine at King’s College London. Her work focuses on the social, regulatory and ethical aspects of genetic science and medicine.

More than seven years ago, my colleague Gil Siegal and I wrote a paper about pre-marital genetic compatibility testing in strictly orthodox Jewish communities. We argued that by not disclosing genetic results at the level of individuals but exclusively in terms of the genetic compatibility of the couple, this practice gave rise to a notion of “genetic couplehood”, conceptualizing genetic risk as a matter of genetic jointness. We also argued that this particular method of genetic testing worked well for strictly orthodox communities but that “genetic couplehood” was unlikely to go mainstream.

Then, last month, a US patent awarded to 23andMe – which triggered heated debates in public and academic media (see here, here, here, here and here, for instance) – seemed to prove this wrong. The most controversially discussed part of the patent was a claim to a method for gamete donor selection that could enable clients of fertility clinics a say in what traits their future offspring was likely to have. The fact that these “traits” include genetic predispositions to diseases, but also to personality or physical and aesthetic characteristics, unleashed fears that a Gattaca-style eugenicist future is in the making. Critics have also suggested that the consideration of the moral content of the innovation could or should have stopped the US Patent and Trademark Office from awarding the patent.
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Learning more from your 23andMe results with Imputation

08/03/2013
Categories: DIY and Guest Posts
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PeterAndEliana This is a guest post by Peter Cheng and Eliana Hechter from the University of California, Berkeley.

Suppose that you’ve had your DNA genotyped by 23andMe or some other DTC genetic testing company. Then an article shows up in your morning newspaper or journal (like this one) and suddenly there’s an additional variant you want to know about. You check your raw genotypes file to see if the variant is present on the chip, but it isn’t! So what next? [Note: the most recent 23andMe chip does include this variant, although older versions of their chip do not.]

Genotype imputation is a process used for predicting, or “imputing”, genotypes that are not assayed by a genotyping chip. The process compares the genotyped data from a chip (e.g. your 23andMe results) with a reference panel of genomes (supplied by big genome projects like the 1000 Genomes or HapMap projects) in order to make predictions about variants that aren’t on the chip. If you want a technical review of imputation (and the program IMPUTE in particular), we recommend Marchini & Howie’s 2010 Nature Reviews Genetics article. However, the following figure provides an intuitive understanding of the process.

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Direct-to-consumer genetic test results in a clinical setting: a case report

02/09/2011
Categories: Guest Posts
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Dr Neeta Tailor is an anaesthetist working at the Royal Gwent Hospital in Wales. Dr Tailor recently treated a friend of Genomes Unzipped members (referred to here as Patient X) who required emergency surgery following some unusual and fairly horrible complications (believe me, I’ve seen the photos!) from wisdom tooth removal. The remarkable thing about this case: prior to surgery the patient volunteered information about her potential drug responses based on her 23andMe profile, including variation in one gene that could have had a profound effect on her response to a standard muscle relaxant. Dr Tailor kindly agreed to write up her experience in this guest post.

For those interested in the genetic details: Patient X’s 23andMe results suggest she is heterozygous for the rs1799807 SNP, which induces an aspartate to glycine change in the BCHE gene and is associated with a substantially prolonged apnea (loss of breathing) following administration of succinylcholine. This is one of three separate mutations in the BCHE gene tested by 23andMe. Although in this case the clinicians had already decided independently to avoid the use of succinylcholine, it’s intriguing to think about how rapidly this type of information could become useful to clinicians – and what steps will need to be taken to ensure DTC genetic testing results are trustworthy enough to justify their consideration in this kind of emergency setting. [DM]

Anaesthesia is classically described as the pharmacologically induced triad of amnesia (memory loss), analgesia (pain reduction) and the loss of muscle reflexes. Patients usually come across anaesthetists during their pre-operative anaesthetic assessment; we are the ones telling you that our job is to pop you off to sleep, although it is usually more complicated than that!

The patient described below works in the world of genetics and invited me to describe her case in order to illustrate how pharmacogenomics and person specific genetic characteristics may affect the choice of general anaesthesia.

A 37 year old woman (Patient X) was booked onto the emergency theatre list on a Sunday morning. The planned operation was incision and drainage of an infected haematoma in the cheek, an unusual complication which had developed quickly over 48 hours following the extraction of a wisdom tooth by her own dentist. By the time she was admitted to hospital, she had extensive facial swelling, not just of her gum, but also the whole of the left side of her face from her forehead to her neck. In addition, she had reduced jaw movement, as well as limited mouth opening of less than one finger breadth. She was also feeling quite unwell having vomited during the night and her blood tests showed raised markers of infection. She was in pain requiring several different types of analgesia.

This presentation in itself poses some difficulty. One of our jobs as anaesthetists involves administering drugs to cause unconsciousness which subsequently requires maintenance of a patent airway using either a mask, an airway device that sits above the vocal cords, or by a tube in the trachea. We usually then maintain unconsciousness using an inhaled volatile anaesthetic via the chosen device.

During this operation we knew we were going to need to share the airway with our maxillo-facial surgery colleagues performing the procedure. To ensure the optimal outcome for all (an anaesthetised patient for us and access to the mouth for the maxfax team), a tube in the trachea was the most ideal option. However, to get to the trachea, we have to get in the mouth and get a good view of the vocal cords and this is where the potential problem could arise.
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Friday Links: peer review discussions, attacks on newborn screening, and Google+

15/07/2011
Categories: Friday Links
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Joe’s post this week on the need for wholesale reform of the current peer-reviewed journal system caused a stir – following links from BoingBoing, Reddit and Hacker News it’s already our second most popular post ever in terms of traffic, and the comments thread currently sits at 86 comments. It’s (unsurprisingly) a topic that aroused passion among scientists, with strong arguments being made both for and against the current system. [DM]

A paper in Nature this week is that rarest of creatures: a high-impact genomics paper with only two authors. Heng Li and Richard Durbin show that the information contained in a single human genome sequence is sufficient to reveal a surprising amount of information about our recent evolutionary history. For the lay summary, Razib Khan has a typically thorough dissection of the paper and its implications. [DM]

Mary Carmichael has a fantastic piece in Nature (free registration required, annoyingly) about a Minnesotan woman who has devoted her life to attacking newborn screening programs. It’s a suitably balanced article: while the anti-screening activists engage in brazen hyperbole against a system that has unquestionably saved many lives, Carmichael doesn’t shirk away from noting that there have also been abuses of privacy. It’s not a debate that will be going away any time soon. [DM]

Colm O’Dushlaine, a scientist at the Broad Institute, has been analysing his 23andMe data in various ways and documenting his methods and results online. If you’re savvy enough to use the Unix command line you’ll find some useful tips for mining your own data. [DM]

Various Genomes Unzipped members have made the transition to Google’s much-discussed new social media platform, Google Plus. You can find Daniel here, Dan here, Joe here, Luke here and Vince here. [DM]

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A case study in personal genomics

29/06/2011
Categories: Disease Risk
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I have no strong family history of any disease, despite having 7 blood aunts and uncles and countless cousins. So when I sent my spit off to 23andMe at the start of the Genomes Unzipped project, I was expecting something very similar to Caroline’s experience: a 5% increase in risk here, a 2% decrease in risk there, nothing that would really tell my anything about my health.

However, this was not my experience. Along with a pretty interesting Y haplogroup, I also had three unexpected and potentially worrying health results. I am a cystic fibrosis carrier, a hemochromatosis compound heterozygote, and have a strongly elevated risk of age-related macular degeneration. This cocktail of genetic disease certainly was not what I came to the test expecting!

After some thinking, I decided to take my test results to my GP, and see if there was any advice or testing he would recommend. In the end, my GP referred me to a clinical geneticist, which started a cascade of appointments which in turn led to a number of important changes in how I treat my own health.

What was most interesting is how the whole experience got me thinking about my health as something I am in charge of. I have since made a number of important life-style changes, some of them directly related to my genotyping results, some more generally to improve my overall health.

The point of this post is just to go through some of the experiences, what I have learned about specific conditions, and what changes I have made to my life since. In some sense, I feel like my experience is a case-study in what good outcomes can come from personal genomics, both for specific conditions, and more generally for how genetic data can change your own approach to your health.

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Using 23andMe to confirm identical twinnery, and a chance to tell the FDA what you think about DTC genetics

01/04/2011
Categories: Friday Links
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Over at Daily Kos, Michael Convente shares a fascinating story of using 23andMe data to pin down the precise relationship he has with his twin brother Matt. When Mike and Matt were born, the obstetrician told their mother that the presence of two separate placentas indicated that the brothers were non-identical (fraternal) twins – yet their incredibly similar appearance while growing up (see photo on left) suggested otherwise. Testing with 23andMe confirmed what the brothers had always suspected: that they are in fact identical twins. This is a useful reminder of the non-medical value of accessible genetic information: when it comes to unravelling these kinds of family mysteries, direct access to large-scale genetic data can be a powerful tool. [DM]

Readers who care about access to genetic information (i.e. all of you) and who are concerned about the potential effects of regulation on this access and on innovation in the field in general will soon have an opportunity to make their voices heard. Thanks to the efforts of Dan Vorhaus and others, the FDA has agreed to reopen the opportunity for public submissions while it deliberates on its next move following the agency-sponsored meeting on direct-to-consumer genetics last month. The submissions docket is apparently due to reopen today, and will remain open to submissions until the 2nd of May – so you all have a month to get your opinions in there. You’ll hear more from us about the process of submitting to the docket over the next week or so. [DM]

On a related note, genetic counsellor Christine Patch and academic (and Unzipped guest blogger) Barbara Prainsack have penned a response to the above-mentioned FDA meeting for BioNews. Patch and Prainsack provide a welcome note of nuance to the discussion; their final two paragraphs are worth quoting in full:
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Ulcerative colitis genetics, Nature on the human genome

11/02/2011
Categories: Friday Links
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Yes, it’s Friday Links time yet again here at Genomes Unzipped.

A paper in Nature Genetics this week reports the results of a large meta-analysis of GWAS studies into ulcerative colitis, which more than doubles the number of loci known for the disease from 18 to 47. This pushes the proportion of heritability explained from 11 to 16%, and sheds more light on the shared and non-shared pathways between ulcerative colitis and Crohn’s disease, along with the interplay with other immune and inflammatory disorders.

The lead author is a Genomes Unzipped contributor, but he emphatically refused to contribute to this Friday Links post, on the grounds that he doesn’t want to blow his own trumpet. So, instead, here is a quote from the Sanger Institute’s press release:

“The genomic regions we have identified give us an insight into the biology underlying ulcerative colitis,” says Dr Carl Anderson, from the Wellcome Trust Sanger Institute and first author on the paper. “These important initial discoveries are the building blocks on which we can begin to derive better IBD treatments, though much further work is needed before these become a clinical reality.” [LJ]

Nature has a special issue this week devoted to the decade of progress since the publication of the human genome sequence. Eric Lander, who was first author on the original Human Genome Project paper, has a long and thoughtful commentary on the subsequent impact of that publication across a wide range of fields. Elaine Mardis accompanies Lander’s piece with a discussion of the astonishing advances in sequencing technology over the last decade (including a figure that emphasises the tremendous impact of the development of the Solexa/Illumina Genome Analyzer platform, which boosted sequencing capacity by eight orders of magnitude in a single year!).

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Guest post by Razib Khan: My personal genome

10/02/2011
Categories: Guest Posts
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I’ve been following Razib Khan’s scholarly and analytical exploration of his family’s genetic history – using data from 23andMe – over at Gene Expression with increasing fascination. When last week he noted that his findings appeared to be (finally) converging on a consensus, I asked if he’d be willing to summarise his journey for Genomes Unzipped readers. Here it is. –DM.

I’ve always been interested in genetics, anthropology, and history. Many may perceive me to be a collector of obscure facts, but summing up infinitesimals does produce something substantial in aggregation. One of the most influential books in my life has been History and Geography of Genes. So with that, the shift from classical markers to uniparental lineages, and now to the dense SNP-chips, has been a boon for my own intellectual interests which reside in part at the intersection of history and population genetics.

However, I’ve never been deeply curious as to the history of my own personal genome. I’m not adopted. All four of my grandparents were ethnic Bengalis, albeit from relatively diverse communal backgrounds. I look typically South Asian. Genealogy has never been a family fascination, and I’m going to be honest and admit that until five years ago I didn’t even know the names of my grandparents (in the Bengali language there are distinctive terms for maternal and paternal grandparents, so this wasn’t needed). Both sides of my family are from the Comilla district of Bengal, and that’s all I really cared about (and I didn’t care that much, I don’t put much stock in “heritage” as determinative).

As for other yields of personal genomics, I was skeptical. My parents have many siblings, and many, many, cousins. I had a general sense of my risks for diseases through an inspection of the pedigree of my family and their medical histories. Additionally, many of the risk alleles have been identified in European study populations, and I wasn’t totally sure about the between-population portability of these inferences. And I won’t even address the fact that effect size of many of the markers isn’t something to shout home about.

But last spring Daniel alerted me to the 23andMe “DNA Day” sale. It was affordable, and at that point enough of the readers of my weblog had been typed that I kept getting questions as to my own background (e.g., my family has the title Khan, so there was a question as to whether I carried the “Genghis Khan haplotype”). So I bit. At the time I recall emailing Dan and being excited that I’d be told I likely had brown eyes and was 75% “European” and 25% “Asian.” When my results came back, I was in for a mild surprise. The proportion to the left are calculated by 23andMe’s “ancestry painting” algorithm. As you can see, I’m more than 25% “Asian.” My initial reaction was that this seemed a touch high, but no worries, I would ask around and see which other South Asians had such a high value. After dozens of instances of “gene sharing,” the answer came back: none.
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My delightfully uninteresting genome

16/11/2010
Categories: DIY
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For some people, genetic information is formidably powerful. It can reveal that you have inherited a debilitating disease which lies unavoidably in your future, that you have a massively increased susceptibility to a particular cancer which can only be mitigated by surgery, or that you are not biologically related to your parents and siblings.

But, for many people, it’s actually quite mundane and uninformative. I’m one of those people. Undergoing genome-wide profiling was interesting, educational and worthwhile, and I would certainly recommend it as a voyage of exploration. But it hasn’t really been useful for my health. (It’s perhaps worth noting that a SNP profile covers only a fraction of the potential disease-causing variants, but nonetheless I doubt there’s anything I need to be scared of lurking in the rest of my genome.)

So, what did I learn?
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Rhesus, paternity tests and 23andMe

28/10/2010
Categories: DIY
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The story behind this post is that my wife recently gave birth to our first son and we experienced a funny story about genetics the day following the birth. Before I start I should say, to reassure the reader, that I have no doubt that I am indeed the father of my child. But as you will see, a non-geneticist might have become worried when faced with the same situation.

Firstly, my wife has a negative rhesus type. This has important medical implications because if the baby were to have a positive rhesus type, she would create antibodies against this marker which could be life-threatening for any subsequent child of positive rhesus type. Basically this is a relatively big deal, but there are ways to deal with this, and therefore knowing the blood type of the baby is essential.

The day after the birth, while we are both lying on our bed, very tired, a midwife comes by and asks us whether we know the rhesus status of the baby. We answer negatively, she checks her notes and says, “Ah, good news, the baby is rhesus negative. The father must also be rhesus negative then!” Well, I am not…

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