As many of you will know, we mark the end of the year here at FLG Towers, with the Festival of Genomics London. Now that it is done, dusted, and in the record books, we take a look back at what you were busy reading on our website during 2017.

The following is a countdown of the top 5 stories in each month, and your answers from our survey. We’re keeping the survey live, so if you want to cast your opinion, just follow the link!

 

January

5) Taking Whole Genome Sequencing Mainstream

This was our very first magazine roundtable. It went so well, that we’ve had one in every issue of the magazine since. With a focus on the 100,000 Genomes Project, a who’s who(m) of UK genomics discussed the challenges of bring WGS into standard care. A great read, and still highly relevant.

4) How long are your telomeres?

This story actually popped up back in October 2016, but it had a surge of social media interest that kept it floating in the FLG charts for quite some time. Ageing is one of those topics that is endlessly fascinating, and easy to connect with. A D-2-C test to loosely estimate life expectancy!? What an interesting era to be alive 2017 was….

3) Just a SmidgION: Oxford Nanopore announce iPhone-powered sequencing

Speaking of stories that just wouldn’t go away, this one is still our most popular story of all time on the site. This actually came out in May 2016, but the 4,800+ shares on Facebook will give you an idea of how much excitement there was around this. Nanopore sequencing powered by your iPhone? Social media gold. The name of the instrument is also pure genius, as with pretty much all of the naming jobs from Oxford Nanopore.

Eric Topol

Eric Topol, Director, Scripps Translational Science Institute and Professor of Genomics, The Scripps Research Institute

2) “Always question; never accept dogma” – Eric Topol

Our first Short Read of the year, featured the world’s most famous doctor, Eric Topol. Apart from being a great medical professional, Eric gets a lot of fans for his dedication to civil rights and always looking forward for solutions. You get the feeling that he wouldn’t look at all out of place surrounded by his ‘dinner guests’.

1)  Has Illumina opened the door for the $100 genome?

Despite there still being some argument over whether or not we’ve really achieved the $1,000 genome, Illumina opened 2017 with the unveiling of NovaSeq. A big Illumina announcement at J.P. Morgan isn’t anything new, but this one got extra attention as it began the hunt for the $100 genome.

We asked:

What will have the biggest transformative impact on the field?

You answered:

21.05% Faster, cheaper sequencers

13.16% Effective, portable sequencers

65.79% Faster, cheaper data analysis

 

We asked:

When will genomic tools become fully integrated into day-to-day practice across all specialities within a hospital?

You answered:

4.88% 1-2 years

9.76% 2-4 years

43.90% 4-6 years

41.46% 6+ years

 

February

5) “You don’t change culture overnight, it happens in baby steps” – Kristen Sund

Our final Short Read of January proved popular well into February. 2016 seemed like the year that a lot of people were talking about mainstreaming genomics, but few were taking well throughout proactive steps towards achieving that goal. The few people involved in the ‘doing’ all share a similar trait – impatience at the pace of progress. Kristen is one of those people, and typical of the very forward thinking people at Cincinnati Children’s.

4) Who Should Be Having BRCA Testing?

The Jolie effect is well documented, but February saw an important piece of research published showing us the state of genetic testing for BRCA. It showed that patients are very interested in undergoing testing, but often it isn’t an option. I think by now we all know that genetic counsellors are in very short supply. It’s something that is talked about at just about every conference out there. Early testing can save lives. It’s as simple as that. When you look at things like that, it makes the work of people like Kristen that much more important.

The “Angelina” effect may have caused a spike in genetic tests for breast cancer, but not an increase in surgical interventions / G8UK

3) How to get CRISPR into cells

Just when we were getting worried at the lack of CRISPR news, February started with a neat bit of research using nanochemistry to transport CRISPR-Cas9 into the nucleus with triggering the cell’s defences. CRISPR stories always do well – they either throw up interesting questions, display cool technology, or present fascinating applications.

2) Broad Institute Triumphs Over UC Berkeley in CRISPR Patent Wars

When it comes to CRISPR, there’s always that one goblin lurking in the shadows. The patent war. What a soap opera… In Feb of 2017, we finally saw the Broad triumph over Berkeley in the dispute. Hang on a second…did I say finally?

1) NIPT could be offered to all pregnant women, not just high risk

NIPT stories are always great. They’re a good marker of where we are with genomics in healthcare and the kinds of battles that may or may not be fought in other areas. Prenatal testing is so far ahead of the rest of the field, but it’s often overlooked. Cancer and rare diseases get the headlines, meanwhile genetic testing has been busy working towards making itself standard care in the pre-natal arena. This story is an excellent example of why.

We asked:

Which side of the CRISPR Patent War are you on?

You answered:

2.94% Broad Institute

17.65% UC Berkeley

38.24% Don’t Care

5.88 % Prefer not to say

35.29% I need more information from both parties

We asked:

What’s the biggest barrier to getting genetic counsellors and genetic tests to those who need them most?

You answered:

13.16% Cost

28.95% Lack of genetic knowledge from clinicians

26.32% Lack of access to genetic counselling and testing services

5.26% Lack of genetic knowledge from patients

26.32% Lack of genetic counsellors

 

March

5) “Do not be afraid to look for mentors” – Judith Benkendorf

For the third month in a row, we had a Short Read in the top 5. The feature was giving an interesting insight into the personalities, and lives, of the amazing people making up the genomics community. This time, it was ACMG’s Judith Benkendorf’s turn. Many of our regular readers will know we are big fans of the good people at ACMG – and in this Short Read, Judith shared some of the history of Genetic Counselling as well as intriguing insight into the types of challenges the field faces.

4) Non-Invasive Pre-Natal Testing “Needs Limits”

While we were getting carried away with the idea of NIPT for all last month, March quickly came in and demanded limits. While still supporting the introduction of NIPT testing in the NHS, it was strictly on the basis that it be accompanied with good balanced information and support for those at risk of Down’s syndrome. It was felt that NIPT testing without limits, would lead to anxiety and unnecessary secondary testing. As you’ll see soon, it’s not the most popular of decisions.

3) Qatar Genome Programme Launches Research Consortium

The Qatar Genome Programme is fascinating for a bunch of reasons. High up in that list is the high curiosity to gain a deep understanding of the populations genome. Although it will undoubtedly have a similar transformative effect as other national projects, this one just seems to be rooted in scientific curiosity rather than a need to revolutionise healthcare. In March, they announced the launch of a Research Consortium, to strengthen international collaborations and focus the work study within Qatar itself.

2) Seven Bridges Announce New CEO and Scientific Advisory Board

Seven Bridges without Deniz Kural as CEO!? This was the big news that Brandi Davis-Dusenbery was taking over the reins as CEO, to oversee the next phase in the development of this exciting company. It sounds like there have been a few changes behind the scenes at Seven Bridges, particularly with respect to their UK office, but one thing remains unchanged –they do some pretty cool science! This story also announced Gholson Lyon as a welcome addition to their Scientific Advisory Board, another FLG favourite who may or may not appear later on this list!

1) Grail Achieve Record $900M Series B Funding Round

One of most aptly named companies out there hit the news with a healthy Series B win. This came shortly after announcing Liz Mansfield joining the company to head up their regulatory strategy. An inspired hiring decision. Apart from the huge sum of money involved in this Series of funding, the big story here was Illumina’s stake being diluted to 20%. Up until this point, we all thought of Grail as ‘basically part of Illumina’. That’s still kind of true, but less true than it was, as this resulted in greater independence from the company. The big question seems to have shifted from ‘Will they do it?’ to ‘When will they do it by?’

We asked:

What’s going to be the lasting effect of all the national-scale genome projects around the world?

You answered:

18.42% Boom in basic science research

55.26% Revolutionise healthcare

26.32% Generating genomic data outside of European-descended Caucasian cohorts

We asked:

Non-Invasive Prenatal Testing should be reserved for those at risk of significant medical conditions and impairments.

You answered:

25.64% Agree

74.36% Disagree

 

April

5) CRISPR Pill Could Replace Antibiotics

April saw the return of CRISPR to the news. This was a report on a great article from MIT Tech Review that explored the possibilities of using a ‘CRISPR pill’ to combat antibiotic resistance. The idea being that the bacteria kills itself by making lethal cuts in its DNA. There are a few companies out there trying to develop CRISPR-based antibiotics. The arms race between bacteria and humans is a fascinating one, so we will brace ourselves for a potentially chilling response from our opponents.

Verily Wrist Watch

The wristwatch that passively monitors participants’ heart rate and activity level / Verily

4) As Google Doesn’t Know Enough Already

This story popped up giving a few details on Verily’s Baseline Project. The research is trying to uncover new biological predictors of cancer and heart disease. Volunteers will be monitored via liquid biopsies, wearing a stylish heart rate and activity level monitor, saliva stool and tear analysis, sleep patterns, and health records. That’s got to be one hell of a consent form….

3) Facial Recognition Software Identifying Rare Diseases

The start of one of the year’s big success stories. This was our first look into FDNA and their Face2Gene app. The technology is beautifully simple and intelligent in its design and execution – best of all, it has made an immediate impact. This is the future. Or this was the future…? It’s here now.

2) A New Frontier for Personal Genomics

From diagnostic apps, to consumer apps. This has to be the longest article we’ve had on the website, but an interesting read none the less. It explores the possibilities and opportunities out there to form part of an altruistic community and game a much deeper understanding of ones genome. Another glimpse into the future?

1) ACMG is Not On Board With 23andMe’s FDA Approval

While we’re on the subject of consumers… April brought the news of FDA approval for 10 of 23andMe’s tests. This seems like it was somewhat of a watershed moment for 23andMe, and for the D2C market in general. It came as no surprise that the ACMG stepped up with some important words of caution; akin to when my dad told me a Swiss army knife was not a toy. I still cut myself pretty badly with that knife…

We asked:

23andMe are…?

You answered:

24.32% A key factor in helping the general public educate themselves about genetics

13.51% A key factor in helping the general public miss-educate themselves about genetics

24.32% Building a uniquely valuable cohort for research purposes

2.7% The first step towards GATTACA

 

We asked:

What do you think will have the biggest positive effect for genomics as a whole?

You answered:

28.21% Consumer apps

71.79% Diagnostic apps

 

May

5) Agilent Technologies Announces Two New Products

News from the excellent ACMG Annual Meeting in Phoenix made the charts in May. This was the double announcement from Agilent; the launches of Version 2 of SureSelect Clinical Research Exome, and the Alissa Clinical Informatics platform. We got to the speak to the brilliant minds behind both of those at ACMG. Cool tech, cool people, cool company.

4) Bringing Genomics to Seventh Graders

The children are our future! This very sweet story was both heart-warming and full of hope. It seems universally accepted that we need to get serious about education, so it’s very nice to see people motivated enough to go out and do it!

3) Eliminating HIV in Live Animals Using CRISPR

No surprised to see this story in the charts for May. It’s CRISPR, and it’s an interesting application. Yes it’s a mouse model, but it’s still exciting that it worked, and we look forward to seeing the next stage. If this approach enjoys continued success it could be give a lot of hope to a lot of people.  That also means it’s a story that needs to be handled sensitively, rather than blown out of proportion. Genuine hope is one thing, but false hope is something quite different.

2) Woman Wins Right to Sue Doctors After They Failed to Inform About Hereditary Brain Disease

What a messy situation this was… An ethical dilemma the likes of which only genetics can produce. Have a read and see what you think? This is exactly why we need professional ethicists in our field to help develop the frameworks necessary to deal with and prevent this kind of situation.

1) A Day In The Life: The Way Science Is Currently Done Is Wrong

Our most read article in May, was A Day In The Life of Josiah Zayner. He would go on to headline the Festival of Genomics in San Diego, where he caused a lot of heated discussion. I didn’t really know much about Biohackers before this. It’s hard to argue against desire to help people, but as we saw later in the year there are a few questions surrounding the responsibility of the approach. A fascinating opportunity for self-reflection.

biohackers

(Credit: Josiah Zayner/ The ODIN)

We asked:

What do biohackers represent to you?

You answered:

28.57% Danger

5.71% Pure science, free of politics and commercial goals

51.43% Something in between

14.29% What’s a biohacker?

We asked:

If a patient’s genetic test reveals that their relations may be at risk, whose responsibility should it be to inform direct relatives?

You answered:

45.95% It should be the choice of the patient whether to inform relatives or not

29.73% The clinician should inform the family

24.32% An independent legal representative should make the decision and inform on behalf of the parties involved

 

June

Gholson Lyon

Gholson Lyon, MD, PhD, Cold Spring Harbor Laboratory

5) “If You Want to Get the Lion’s Credit for Discoveries That You Make, You’ll Need 3 Major Skills” – Gholson Lyon

Gholson made the list! Of course he did, because he’s also got good things to say. The thing you need to understand about Gholson, is that yes he’s opinionated, but he’s also always going to tell it to you straight. Make no mistake about it, there are a lot of ‘politics’ in science, but Gholson flat out refuses to play the game. In this Short Read, he lets us into what he’s working on and is on have to give some fantastic no-nonsense advice. Gholson Lyon – the people’s champ!

4) Backlash from Gene Editing Companies in Response to CRISPR Paper Criticism

Well this is a bit of a spoiler for what topped the FLG charts in June. Criticism on THAT paper, showed just how quick we all were to jump on some negative CRISPR news.

3) Drinking Tea Causes Epigenetic Changes in Women

For those of you outside of the UK, I can confirm that everyone here drinks tea. And lots of it. It still remains to be seen if this is bad news or good news, but drinking tea leads to epigenetic changes in women. Men are immune to the magical workings of tea, but for women it may lead to higher risk of cancer, or lower risk of cancer. I feel vindicated by my refusal to drink the stuff.

2) The Value of Genome-Wide Disease Studies is Under Question

GWAS has been the source of so many discoveries. But that’s kind of the problem. Are those discoveries actually meaningful? Are we just seeing coincidences? I think the big lesson here is that, if you’re going to GWAS, GWAS responsibly. Understand the underlying biology, and have a good working knowledge of statistics.

1) CRISPR Gene Editing Can Cause Hundreds of Unintended Mutations

The day the earth stood still. Yes, THAT paper that insinuated that CRISPR caused all sorts of off-target mutations that would make it unusable in humans. Everyone covered this story at the end of May, and the debate raged on into June, until it came out that perhaps not everything was quite what it seemed. This just goes to show how excited we all get around the success and failure of CRISPR.

 

We asked:

What did we learn from THAT off-target mutations CRISPR paper?

You answered:

5.56% A big headline is often too attractive to pass up?

11.11% There are still a lot of misunderstandings around CRISPR

36.11% There is still way too much we don’t know about CRISPR

22.22% All of the above

25% I don’t know the paper you mean, sorry

We asked:

The age of GWAS is over.

You answered:

31.58% True

68.42% False

 

That wraps up Part 1 of 2017. Part 2 will be up shortly, including a few extra bonus questions we asked in our survey. You can still get involved in the survey before we round up the tail end of the year!