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While We Dump Ice Water, Here’s What England Is Doing: The 100,000 Genomes Project

The other day, I posted this on Facebook:

“Short rant: If you’re not pro-genomics/biotechnology R & D, please stop with the #icebucketchallenge or any other fundraising gimmicks for ALS, cancer or other diseases. We’re not going to cure that ish with a magic wand. Otherwise, please proceed.”

Needless to say, I should have known this would have been misunderstood. And I admit, I wasn’t being as lucid as I could. To clarify: I’m not a killjoy; I’m not heartless. I don’t think ALS patients should suffer without a cure. I think it’s just great that people are having fun posting silly videos of themselves while collectively raising millions for disease research and patient support. I only hope this type of viral enthusiasm can be sustained and carry over to other pursuits in disease research fundraising.

My point is this–those who did the Ice Bucket Challenge but are not pro-genomic medical research are either unknowing or disingenuous hypocrites. As I’ve discussed in a previous post, there exists a subset of Americans with a distaste for dissemination of genomic data. There is another group overlapping with this subset that doesn’t realize that the most revolutionary advances in patient treatment will come from genetic, genomic, and other “omic” research (like proteomics, transcriptomics, metabolomics, and more. I won’t get into these here, but they’re all great terms to google when you’re supposed to be doing something productive.) True, up until very recently, significant advances in medicine came primarily from non-genetic research. But as I’ve said before, genomic medicine is THE WAY to cure or treat challenging diseases. As I rather tactlessly blurted, “there are definitely a lot of people getting on the bandwagon *and* donating their $10 who are also against dissemination of genetic information. Where do they think advances in research are coming from? The Medical Breakthrough Tree?”

I wish there was a tree with low-hanging fruit in the form of cures or treatments ripe for the plucking. But there isn’t. It’s going to take lots of work from scientists, and lots of support from the public. Yes financial support is important, but all of the monetary donations from viral campaigns won’t help without genomics. (As a side note, here is an excellent explanation on the genetics of ALS.)

Here’s how the British government is asking its people for help:

Genomics England is a company launched by the British Department of Health to deliver the 100,000 Genomes Project. In conjunction with Illumina (an American company that manufactures some of the more advanced DNA sequencing machines,) the project aims to sequence the whole genomes of that many rare disease patients and their healthy family members. Only a few of the participants will see immediate clinical benefit. The website makes clear that, “for most, the benefit will be in knowing that they will be helping people like them in the future through research on the genome data they generously allow to be studied…”

A couple issues to consider about the 100,000 Genomes Project:

  1. The sequenced information is only data. The data needs to be compared on a large scale, and analyzed to even begin to glean clinically actionable information. The information from one patient’s genome is worthless without entire cohorts of patients with similar and different phenotypes against which to compare.
  2. Results will not be immediate. These data will be analogous to a gold mine. One the mine is established, the arduous work of excavation is yet to come.
  3. Privacy is an important concern. Genomics England has established an Ethics Working Group to manage issues including informed consent. The organization is taking the utmost care to anonymize data, which would only be individually identified with consent and when a doctor requires it to make treatment decisions for her patient. Still, the institution makes the following clear:

 “In theory however, any non-trivial piece of health record data can be re-identified by someone who has access to sufficiently detailed information about an individual and so there is a very small risk that participants could be identified by someone, although this would be very difficult to do and require a great deal of skill and knowledge as well as the ability to get past Genomic England’s data security.”

THIS IS SO TRUE. Everything involves risk. All data is potentially identifiable. With robust bioinformatics tools, individual genetic profiles are identifiable from over a thousand patients’ information. Then again, I’m sure plenty of you are easily identifiable from thousands of consumers’ credit card data based on your unique purchasing habits. Yet most of us won’t forgo our wallets full of plastic. I might be one of the rare few who are totally fine with slapping my name on my genome data and setting it free on the internet. Perhaps I’m reckless. For those who aren’t as reckless, there will be hefty security protecting this information the way any other sensitive information is protected.

So consider these questions, Americans:  When the time comes, which it has and will, are you willing to donate your genome data to help alleviate human suffering from disease? Will the home of the brave be thwarted by none other than Great Britain in the medical field?


For those who are interested – here are some current initiatives requiring samples or awareness:

The National Breast Cancer Research Institute needs females over 60 with no personal or direct familial cancer history.

The Harvard Personal Genome Project is looking for any willing participants over age 21. The enrollment process is a bit time-consuming, and I’m still working on mine.

The Resilience Project needs healthy adults over age 40 to help determine what causes certain carriers of severe disease mutations, also known as “Unexpected Heroes,” to never manifest symptoms.

This is an interesting idea proposed in Nature Clinical Pharmacology & Therapeutics. The authors propose “a novel approach to the collection and annotation of personal genomic data using an organized donation program analogous to the national organ-procurement system.” Good thinking!


Recent Development:  On 8/27/14, the National Institutes of Health Released a finalized policy on genomic data sharing.





Kavin Senapathy

Kavin Senapathy is a mom of two, co-Executive Director of March Against Myths, public speaker, Forbes contributor and author in Madison, WI. She is also co-author of "The Fear Babe: Shattering Vani Hari's Glass House". Follow her on Facebook and twitter @ksenapathy

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