Following the Genomes Unzipped post entitled “Exaggerations and errors in the promotion of genetic ancestry testing”, we received a request to reply from Jim Wilson. Jim Wilson is the chief scientist of BritainsDNA. He is not the one who gave the BBC interview that prompted the Genomes Unzipped post but he is a key contributor to the science behind BritainsDNA. We are keen to tell both sides of this story and this post is an opportunity for BritainsDNA to state their arguments and motivation. -VP
I saw Vincent Plagnol’s post here on Genomes Unzipped about the promotion of genetic ancestry testing and felt compelled to respond. While I did not give the interview that was the subject of the post, I am the chief scientist at BritainsDNA and I feel that the post was biased in presenting only one side of the story and thus misrepresenting the situation. Perhaps I can offer another perspective for readers.
Continue reading ‘Response to “Exaggerations and errors in the promotion of genetic ancestry testing”’
One thing we have done in Genomes Unzipped is to report on what is on the market for consumers interested in getting information about their genetic data. While we have found generally positive things to say about this market, there are also many exaggerated claims especially when it comes to making inferences about an individual’s ancestors from direct-to-consumer genetics companies. An example came up last summer with a BBC radio 4 interview of Alistair Moffat of Britain’s DNA. This post will discuss the scientific basis of some of the claims made in the interview.
But first of all, what is my motivation to write this post? After all, there are quite a few genetic ancestry companies like Britain’s DNA, making similar claims. Why specifically discuss this BBC radio 4 interview? The main reason is that listening to this radio interview prompted my UCL colleagues David Balding and Mark Thomas to ask questions to the Britain’s DNA scientific team; the questions have not been satisfactorily answered. Instead, a threat of legal action was issued by solicitors for Mr Moffat. Any type of legal threat is an ominous sign for an academic debate. This motivated me to point out some of the incorrect, or at the very least exaggerated, statements made in this interview. Importantly, while I received comments from several people for this post, the opinion presented here is entirely mine and does not involve any of my colleagues at Genomes Unzipped.
Continue reading ‘Exaggerations and errors in the promotion of genetic ancestry testing’
As part of the Personal Genome Project (PGP), my genome was recently sequenced by Complete Genomics. My PGP profile, including the sequence, is here, and their report on my genome is here. As I play around with the best ways to analyze these data, I’ll write additional posts, but for now I’ve noticed only one thing: I’m almost surprised by how unsurprising my full genome sequence is.
According the the PGP’s genome annotator, I have two variants of “high” clinical relevance. The first is the APOE4 allele, which Luke had already reported that I carry. The second is a variant that causes alpha-1-antitrypsin deficiency, which is also typed by 23andMe.
Of course, this is all quite reassuring. Long-time readers will remember that last year I was briefly worried that I might have Brugada syndrome. I do not carry any of the known pathogenic mutations (modulo worries about false negatives); this of course is now unsurprising, but would have been really nice information to have, say, when I was talking with a cardiologist last year.
As I mentioned a few weeks ago, we recently published a large study into the genetics of inflammatory bowel disease (IBD), which included a number of analyses digging into the biology and evolutionary history of IBD genetic risk. Gratifyingly, our paper has stimulated a lot of discussion among other scientists, which has generated several ideas about future directions for this work. One question that was raised by several population-genetics experts at ASHG was about our natural selection analysis, and in particular our claim to discover an enrichment of balancing selection in IBD loci. In the paper, we found clear signals of natural selection on IBD loci, a subset of which we interpreted as balancing selection. In this post I will set out how I came to this conclusion, but then outline another explanation that could explain the results: recent local positive selection in Europeans.
Continue reading ‘Looking closer at natural selection in inflammatory bowel disease’
Many of the Genomes Unzipped team are spending the week at the American Society of Human Genetics meeting in San Francisco. This year the coverage of the meeting on Twitter is more intense than ever before, and social media is becoming an increasingly mainstream component of the conference. Chris Gunter, Jonathan Gitlin, Jeannine Mjoseth, Shirley Wu and I will be presenting a workshop on social media use for scientists this evening, and we prepared these guidelines for those interested in live coverage of meetings.
- Check the conference social media guidelines first.
If there aren’t any, ask an organizer what the rules are. If there is no formal policy, you may want to take the initiative and ask speakers if they’re OK with their talks being tweeted.
- Use the right #hashtag when you tweet.
This ensures that everything written about a meeting is aggregated in a single channel. When you search a hashtag it filters those posts for you.
- Remember that people are listening.
Twitter is a public conversation. Don’t say anything you wouldn’t be prepared to tell the speaker to their face. Also, bear in mind that your boss and potential employers may be following.
- Remember that people are listening who aren’t at the meeting.
In general, leave off the conference hashtag for in-jokes and social chatter unless it’s likely to be genuinely entertaining to outsiders.
- Be careful tweeting new findings.
If a speaker is presenting unpublished data, don’t write about it unless you’re sure they’re happy to share.
- Do your best to ensure that your tweets don’t misrepresent presented material.
Add as much context as you can, and actively correct misunderstandings that arise about something you tweet.
- Add value by contributing your specific area(s) of expertise to provide insight into presented material.
Don’t just be the fifth person to tweet the easy soundbite from the plenary; instead, explain the unappreciated but profound scientific significance of their fourteenth slide.
- At the same time, don’t tweet everything a speaker says.
One to three key take-home messages per talk is usually enough, unless a presentation is particularly fascinating.
- Don’t swamp the hashtag by quote-tweeting everyone else.
Use the official retweet function, or “break the hashtag” (for instance, delete the # character) in your quote-tweets.
- If you’re organizing a conference, be proactive with a social media policy.
Make sure both the presenters and the audience at the meeting are aware in advance what this policy is.
Out in Nature this week is a paper by three Genomes Unzipped authors reporting 71 new genetic associations with inflammatory bowel disease (IBD). This breaks the record for the largest number of associations for any common disease, and includes many new and interesting biological insights that you should all go and read about in the paper itself (pay-to-access I’m afraid) or on the Sanger Institute’s website.
One thing that we did not discuss in the paper was genetic prediction of IBD (i.e. using the risk variants we have discovered to predict who will or will not develop the disease). In this post I want to outline some of the situations in which we have considered using genetic risk prediction of IBD, and discuss whether any of them would actually work in practice.
Continue reading ‘Dozens of new IBD genes, but can they predict disease?’
The ENCODE Project has this week released the results of its massive foray into exploring the function of the non-protein-coding regions of the human genome. This is a tremendous scientific achievement, and is receiving plenty of well-deserved press coverage; for particularly thorough summaries see Ed Yong’s excellent post at Discover and Brendan Maher at Nature.
I’m not going to spend time here recounting the project’s scientific merit – suffice it to say that the project’s analyses have already improved the way researchers are approaching the analysis of potential disease-causing genetic variants in non-coding regions, and will have an even greater impact over time. Instead, I want to highlight what a tremendous feat of scientific publication the project has achieved.
Continue reading ‘The ENCODE project: lessons for scientific publication’
About a year ago on this site, I discussed a model for addressing some of the major problems in scientific publishing. The main idea was simple: replace the current system of pre-publication peer review with one in which all research is immediately published and only afterwards sorted according to quality and community interest. This post generated a lot of discussion; in conversations since, however, I’ve learned that almost anyone who has thought seriously about the role of the internet in scientific communication has had similar ideas.
The question, then, is not whether dramatic improvements in the system of scientfic publication are possible, but rather how to implement them. There is now a growing trickle of papers posted to pre-print servers ahead of formal publication. I am hopeful that this is bringing us close to dispensing with one of the major obstacles in the path towards a modern system of scientific communication: the lack of rapid and wide distribution of results.*
Continue reading ‘The first steps towards a modern system of scientific publication’
Jimmy Cheng-Ho Lin, MD, PhD, MHS is the Founder/President of Rare Genomics Institute, helping patients with rare diseases design, source, and fund personalized genomics projects. He is also on the faculty in the Pathology and Genetics Departments at the Washington University in St. Louis, as part of the Genomics and Pathology Services. Prior to this, he completed his training with Bert Vogelstein and Victor Veculescu at Johns Hopkins and Mark Gerstein at Yale, and led the computational analysis of some of the first exome sequencing projects in any disease, including breast, colorectal, glioblastoma, and pancreatic cancers.
At Rare Genomics Institute (RGI), we have a dream: that one day any parent or community can help access and fund the latest technology for their child with any disease. While nonprofits and foundations exist for many diseases, the vast majority of the 7,000 rare diseases do not have the scientific and philanthropic infrastructure to help. Many parents fight heroically on behalf of their children, and some of them have even become the driving force for research. At RGI, we are inspired by such parents and feel that if we can help provide the right tools and partnerships, extraordinary things can be achieved.
We start by helping parents connect with the right researchers and clinicians. Then, we provide mechanisms for them to fundraise. Finally, we try to guide them through the science that hopefully result in a better life for their child or for future children. Throughout the whole process, we try to educate, support, and walk alongside families undergoing this long journey.
Continue reading ‘Guest Post: Jimmy Lin on community-funded rare disease genomics’
Those of us involved in genomics research spend a lot of time thinking about how scientific and technological developments might influence personal genomics. For instance, does the falling cost of sequencing mean that medically useful personal genomics will likely be based on sequence rather than genotype data? (Yes.)
At the Sanger Institute we’ve recently launched (along with our friends at EBI) a project to look more deeply at a question which is less often on the lips of genomics boffins: “How does genomics affect as us people, both individually and in communities?” Because of the obvious resonance with Genomes Unzipped it should come as no surprise that many of us (including myself, Daniel and Luke) have been intimately involved in this initiative.
The actual line-up of events has been diverse, and a lot of fun. We’ve had two excellent debates, including one between Ewan Birney and Paul Flicek (pictured) on the value, or lack thereof, of celebrity genomes (covered in more detail here). A poet, Fiona Sampson, spent some time on campus and we’ve commissioned a book of poetry from her. This one raised some eyebrows, but I have to say that talking to her has given me some brand new ways of thinking about my own work. We’re also working on a more interactive project in the hope of making personal genomics a bit more personal. Stay tuned.