BBMRI NL Hub 10 HoBB special. Hub

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1 Hub Hub is the official newsletter of BBMRI-NL BBMRI NL Hub 10 HoBB special HandsOn: Biobanks 2013 Special In this edition: 2 Highlights of HandsOn 6 Uta Francke 8 Stephen Birch 10 Henk-Jan Guchelaar 12 Column Jan-Eric Litton Connecting Communities

2 2 Hub 10 HoBB special Hub 10 HoBB special 3 HandsOn: Biobanks 2013 Highlights With some 320 visitors, HandsOn: Biobanks 2013 offered something for everyone. Everyone in any way concerned with or connected with biobanking, that is. From inspiring keynotes to educational sessions, from a poster competition to Idea Labs, from the DNA Lab CSI: The Hague to the Ethics Café sessions, and through everything the main thread: The Route. Our photographer Thijs Rooimanscreated a photographic impression of the conference, which you can view on our website Below are some of the highlights of the two days. Poster competition winner: Anna Sundby With her poster Whole genome sequencing new possibilities, new dilemmas, Anna Sundby from Aarhus University and The Lundbeck Foundation Initiative for Integrative Psychiatric Research, Denmark, won first prize in the poster competition. The poster explores the ethical implications of whole genome sequencing and the views of research participants on the disclosure of findings, as well as consent procedures. On the photo, head of the poster competition committee Professor Gerhard Zielhuis hands Anna her prize, the ipad. Runners up were Noor Giesbertz, RUNMC (2nd prize), and Sandra Slagter, UMCG (3rd prize). The Route: interactive display of the biobanking process Jeannette Ridder-Numan from the Ministry of Education and Science was the first to walk The Route, the interactive exhibition of all the steps involved in biobanking: from Ethics and Regulation to Biobanking Practice and Pre-analytics, to Sample Analysis, Data Analysis and finally Dissemination. After signing an informed consent form and being handed her personal blood test tube, Ms. Winter proceeded to a LIMS, a DNA extractor, analysis equipment, and several examples of virtual catalogues and repositories. Ethics Café: ELSI issues up for debate and song On both Thursday and Friday, a large group os visitors gathered at the Ethics Café to discuss legal and ethical matters. On Thursday, the HeLa: How to Treat Her Right session attracted special notice when live music began to play. Joancy and Orville Breedveld treated the guests to classics from Sam Cooke and Jimi Hendrix, a.o. On Friday, the Ethics Café saw two opposing sides of the same question as Dr. Annelien Bredenoord and Professor Ellen Clayton discussed how to go about disclosing accidental findings to biobank participants. At the end of the session, a quick show of hands revealed that the audience was still divided between disclosure yes, if... and no, unless....

3 4 Hub 10 HoBB special Party! On Thursday night, many visitors let down their hair and kicked up their feet at the party in Madurodam theme park. Pop band La Stampa performed classics and contemporary hits, there was a fine food buffet and a chance to talk to whomever you had been too busy to talk to during the day. Idea Labs: This could be the beginning of a beautiful collaboration The Idea Labs, scheduled three times in the two-day programme, did exactly what they set out to do: they got people talking, and sowed the seeds for further collaborations. The concept of the Idea Labs is simple: put four experts and a moderator in a room with an interested audience, break away in four subgroups and let the audience decide what they want to discuss and with whom. Hub 10 HoBB special 5 Idea Lab 1, Best pracitices in multi-omics biomarker discovery, sparked a plan to set up a task force Sample Analysis, working towards standard operating procedures for sample collection, storage and quality control, under the leadership of Marcel Bruinenberg (LifeLines). Idea Lab 2, Standardizing the Changing World, Share Information in the Cloud Using Standard Protocols, veered towards an exploration of the legal possibilities and pitfalls of sharing data online. The participants in Idea Lab 3, Patient Input in Biobank and Patient Registries, concluded that closer connections between biobanks and patients or patient organizations is vital to forward research, and also pointed out the dangers in governmental over-regulating. Members of the Idea Lab team are already planning to set up a session at the 2014 HandsOn: Biobanks meeting in Helsinki. Professor Anu Jalanko (BBMRI.fi): HandsOn: 2014 in Helsinki, mark the date! On 24 and 25 September 2014, the third edition of HandsOn: Biobanks will take place in Helsinki, Finland, hosted by BBMRI.fi and Professor Anu Jalanko of the National Institute for Health and Welfare (THL) and Institute for Molecular Medicine Finland (FIMM). It is something of a responsibility!, declares Professor Jalanko. BBMRI.fi was involved in organizing the 2012 edition of HandsOn, but only as one of three parties. Having visited both editions, and viewing the efficiency and success of the conferences and their organizing teams, it seems quite a daunting task to take on. But I am very pleased that BBMRI Finland will get to host the third instalment of, hopefully, a long series of HandsOn: Biobanks conferences. Professor Jalanko is not planning to change the formula of the conference: No, why should I? The format is playful, highly interactive, and has proven to be highly successful. Not only on the days themselves, but afterwards, where collaborations have sprung up as a result of discussions during the Idea Lab sessions or The Route. Does she already have a subtheme in mind, or speakers she would like to invite? It s much too premature for that! Or rather, I m thinking, but not ready to disclose anything at so early a date. The only people I definitely do not hesitate to invite are the visitors we had in 2012 and 2013; and of course anybody concerned with biobanking who couldn t make it to the first two editions. We look forward to welcoming you to Helsinki in September 2014!

4 6 Hub 10 HoBB special Hub 10 HoBB special 7 Keynote 1: Uta Francke by Pieter van Megchelen Direct to consumer DNA testing, bottom-up initiatives by patient groups and the general public, private-public partnerships: the face of biomedical research is changing rapidly. Professor Uta Francke, professor emeritus at Stanford University and senior medical director of 23andMe addressed these themes in her keynote speech SNP s and surveys: Participant-driven research with self-reported data on Thursday 21 November. The research model is changing from an academic top-down model to a more bottom-up approach. It used to be mostly academic institutions who recruited subjects. Now the public has become a driving force, providing scientists with materials and data. I think it is amazing that so many people decide to participate in the scientific research by 23andMe. Altruism seems to be a motivating force. They want other people to benefit from the research based on information and materials they provide, says Francke. 23andMe offers direct-to-consumer DNA testing. Each participant also receives an invitation to be part of the company biobank and contribute phenotype information by responding to surveys. This fast-growing data bank is being used for genetic research on a wide variety of subjects by carrying out genome-wide association studies. Serious medical questions are being addressed, but also the heritability of the funny smell of urine after eating asparagus, or genetic factors in motion sickness. The facts and factoids from this research are not only published in the scientific literature, but also communicated on the 23andMe website. This helps to build a community. Of course our participants always have the right to revoke their permission. In that case their sample will be destroyed and their contributed data de-identified. In everything we do, we adhere to the highest standards of privacy protection and medical ethics. Privacy Many customers, especially people with diseases, decide to share their test results and other personal data, seeking advice from their peers and contributing to various online forums, some of them hosted by 23andMe. Whenever biomedical questions are raised, staff scientists try to provide state-of-the-art answers. Francke: Especially the younger generation is not so much concerned with privacy and likes to share things online. The very business model of 23andMe has attracted criticism. Theoretically, there could be a danger in telling people about their disease risks. What if they decide to change their lifestyle or become seriously depressed because of the information or even a misunderstanding? And then, there are of course the same concerns about privacy and diligence as in any medical diagnostic setting. Francke is aware of these potential sources of problems, but emphasizes the advantages of direct access to DNA analysis: DNA gives people information about their origins. This is especially interesting in the United States, where many people have a mixed ethnic background. They like to know if their ancestors lived in Africa, Asia or Europe. For people all over the world who have been adopted, this kind of information can help them find out more about their roots. 23andMe provides data about the way people metabolize different drugs. It may be life-saving if you know how fast your body eliminates some anti-blood clotting drugs, or how well you may respond to some antibiotics or antidepressants. And then, there is information about carrier status for inherited disorders and disease risks. These data empower people to manage their own health better. And we always advise people to take the results to their doctor, especially if they indicate above average risk for serious diseases. Customers decide 23andMe lets the customer decide what he or she wants to know. If the customer does not want to know whether she has a BRCA1-mutation that increases her risks of getting breast cancer or ovarian cancer, it is easy to skip those parts. Francke: You really have to decide to open that file, and if you do not click on it, you won t be exposed to that part of the information. But what if people do open this file and find out they are at risk of getting a life-threatening disease? 23andMe has studied the impact of such bad news. Francke: This February, we published a study on the reactions of our customers to information about BRCA mutations. There were no extreme psychological reactions, most people who were told they had an increased cancer risk were glad they knew and started to inform their relatives. I m certain that many lives were saved this way in families with a high risk of breast cancer. We also studied how people dealt with negative results. People understood that a normal BRCA gene test did not mean that they were off the hook and that they may still have an elevated risk. Males with a BRCA gene mutation were aware of their own increased risk, but most of them were more concerned about the chance that they passed on this mutation to their daughters. All in all, I was impressed by the mature and rational reactions of people to this kind of information. Professor Uta Francke: DNA gives people, for instance people who have been adopted, information about their origins. (photos Thijs Rooimans)

5 8 Hub 10 HoBB special Hub 10 HoBB special 9 Keynote 2: Stephen Birch by Linda van den Berg Professor Stephen Birch addressed biobanks from a health economics perspective in his keynote lecture on 22 November. Holding appointments at universities in Canada, the UK and Australia, Stephen Birch is a truly international expert in health economics. For most people involved in biobanking, health economics is a whole new way of thinking about their field, says Birch. of biobanking initiatives is a challenge because their contribution to health is rather indirect. It is important that we ask ourselves: what will it achieve for the general population? Will it increase the wellbeing of the population? One of the promises of biobanks is that they will stimulate personalized medicine. From a health economist s perspective, personalized medicine offers an ideal solution to maximizing value for money. For instance, once it becomes possible to identify high-risk patients, it is also possible to single them out for certain expensive treatments. Professor Birch: Biobanks may improve the efficiency of healthcare by increasing the amount of information a medical doctor has about an individual patient. This improved efficiency would increase costeffectiveness of current healthcare systems. happens in health research: a health economist is brought in after clinical research has been finished. New technologies tend to race ahead and leave economics behind. So what is a health economist s view on biobanks? Economics is about choices: there are always limited resources available, so choices should be made. A new technological development adds to the available options.the economic analysis Idea Labs The HandsOn: Biobanks 2013 conference programme included three Idea Labs. These are interactive workshops aiming to provoke discussion about a certain theme. Professor Birch organized an Idea Lab about health economy aspects of biobanking at the 2012 edition of HandsOn: Biobanks. The format of an Idea Lab was a new experience to me; I had not seen that before. I was impressed by the level of engagement of the audience, they were very interested. This was also true of the audience at the 2013 edition, I could tell that there was a genuine interest and a realization that biobanks can play an important role in making care cost models operate more efficiently. Professor Stephen Birch: Economic aspects of biobanking are not properly understood. (photos Thijs Rooimans) Health economists are not only interested in the clinical effectiveness of healthcare, but also in its cost-effectiveness. Birch: Health economics is different from other branches of economy. In healthcare, there is a special relationship between supplier and consumer. The supplier usually decides what the consumer needs. This differs from the more traditional economic relationship between a car dealer and his customer. As health economists, we need to adjust our study methods to this special situation. The main challenge is to develop healthcare based on the needs of the population. Focusing on needs has led the field to shift from thinking in terms of health outcome to terms of wellbeing. The patient s health is a goal for healthcare professionals. From a patient s point of view, wellbeing is a more important goal. For instance, prenatal screening can provide a pregnant woman with knowledge. This knowledge will not necessarily improve her health, but it can improve her wellbeing because it enables her to plan ahead, explains Birch. Multimillion dollar operations The economic analysis of biobanking is a recent branch of health economics. Economic aspects of biobanking are not well understood. This is rather surprising given the fact that biobanking initiatives are often multimillion dollar operations. It is not a big topic in our field; there is a gap that needs filling. This often

6 10 Hub 10 HoBB special Hub 10 HoBB special 11 Keynote 3: Henk-Jan Guchelaar by Margot Heesakker Professor Henk-Jan Guchelaar (LUMC) delivered the third keynote speech on Biobanks and Drug Development on Friday 22 November. His speech, Personalized medicine where are we, really? was a foray into the past, present and future developments in individual health care, demonstrating that large steps are being taken already--but are they big enough? Can you say a bit more about where we are? Well, it is the oldest question in pharmacology: why does a given drug work really well for some patients, but not at all for others? Why does the same drug cause severe side-effects in some patients, while not in others? We know that, generally speaking, only 50% of all drugs are effective. For cancer, the success rate is even lower: only 25%. The first clue that there was a genetic component in the answer to this question stems from Motulsky s research, published in He demonstrated that the severe side-effects of primaquine as an anti-malaria drug in African- American soldiers in the Second World War were due to genetic differences. But it has taken quite some time until we were able, and it became affordable, to really research people s DNA in large numbers and find biomarkers. But there are other aspects, too. Just as a genetic predisposition for a certain disease does not automatically mean you will develop that disease, there are other factors at work: eating and drinking habits, general health, work, previous drug use. You have to draw up a model to predict the efficacy of treatment on almost an individual level. And, to successfully implement the knowledge we have on genetic biomarkers, you need to disseminate this knowledge in a way that makes it easy for the physician inevitable, in fact to see: this patient has a predisposition for side-effects using this drug. To facilitate this, we have drawn up guidelines, which are now implemented into the electronic prescription system used by GP s and pharmacists. It means that when they start to fill out a prescription, they will receive an automatic warning if there is a known contra-indication. So, basically, we are on the verge of taking some major steps, but we need more data. Much more data. And that is where biobanks come in? They might do, yes. As yet, there are few collaborations between the field of pharmacogenetics and biobanking. You see, for a biobank collection to be useful, we need not only DNA, but also a full drug history of five to eight hundred patients. Our sources are mainly clinical trials and archived materials, paraffin blocks from pathology departments. But that is exactly what BBMRI-NL has been doing the last four years or so: enabling existing biobanks to enrich their collections with for example data on drug use. Well, I know that the Leiden Longevity Study for example has GWAS data on a 1,000 participants. But even if the data are complete, that is to say including a full drug use history, there are ethical questions to be addressed: you cannot simply decide to use the data for a different purpose. Personalized medicine: from generic treatment to specifically targeted drugs. It s already happening, says Professor Guchelaar (photos Thijs Rooimans) There are ethical questions involved, like: would the participants have consented to further use if they knew that use could eventually lead to the development of drugs? What role can, or do, the pharmaceutical industry play in developing personalized medicine? Are they welcoming it? They are now. Five years ago, most pharmaceutical companies were still very reluctant to discuss the idea. Traditionally, the pharmaceutical industry has always tried to find so-called blockbuster drugs, drugs that will work for the majority of patients. But the rapid developments in genetic studies, and the discoveries of many, many biomarkers for diseases, means that they are having to change their ideas. In fact, all pharmaceutical companies now have a biomarker department. The focus is definitely switching to targeting sub-groups of diseases, developing far more specifically targeted drugs.

7 12 Hub 10 HoBB special HandsOn: Biobanks 2013: Communities Connected Sold Out, again! After hosting the first edition of HandsOn: Biobanks in Uppsala in 2012, I was a bit reluctant to hand over the baton. But in my opinion, BBMRI-NL and Professor Gert-Jan van Ommen have done an excellent job in keeping the format for HandsOn: Biobanks alive. Some impressions: On Thursday morning, the lecture room was filled up when Professor Uta Francke (Stanford School of Medicine) gave her keynote speech SNPs and surveys: Participant-driven research with selfreported data, about the advantages of research fuelled by paying consumers, as is the practice at 23andMe, the company of which Professor Francke is a board member. The speech got the audience thinking and talking. Just how topical the subject of industryconsumer driven biobanks is, was proven the following day, when 23andMe received an injunction from the U.S. Food and Drug Professor Jan-Eric Administration to stop selling their Litton (photo Thijs Rooimans) DNA tests, as the company hadn t complied with the FDA directive to discontinue new consumer access during their regulatory review process. At the heart of HandsOn: Biobanks was the interactive biobank exhibition The Route where you could follow the research process and discuss the value of biobank research for both society and current and future patients. Many brought their coffee to the Ethics café to listen to and discuss topics such as immortality and Sequencing the HeLa genome with Raeka Aiyar. HeLa is the most widely used model cell line for studying human cellular and molecular biology. After publishing the HeLa genome in the online journal G3: Genes, Genomes and Genetics, researchers at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, withdrew the data following a storm over the publication. During the two-day conference, visitors were able to attend three Idea Labs, which consisted of an introduction to a theme, followed by sub-sessions during which visitors followed up and discussed the subtheme of their choice with an expert and the other members of their group. I think that at least two of these Idea Lab groups are drawing up plans for future collaboration, a wonderful proof that the concept works and has real value. A personal highlight for me was the fact that on Friday 22 November, the news came through that BBMRI s ERIC-application had been officially approved by the EU commissioner. BBMRI-ERIC, with head offices in Graz, Austria, will start work on 1 February, 2014, with me at the helm as Director General. HandsOn: Biobanks gave a great opportunity to meet experts from all around the world in the biobanking area and to discuss future issues for biobanking. I want to thank all speakers and exhibitors for making this conference happen. I also want to give a great thanks to all visitors for showing that the biobanking area is important and interesting. Last but not least, I would like to thank everybody in the organizing committee who made this conference possible. And a special thanks goes to Mascha Jansen, the Project Manager for HandsOn: Biobanks This was the second version of HandsOn: Biobanks. The third version will take place September 2014 in Helsinki, Finland. BBMRI.fi and Professor Anu Jalanko will be your hosts. Looking forward to meeting you in Helsinki! Professor Jan-Eric Litton Director General BBMRI-ERIC About the author Jan-Eric Litton is Professor of Biomedical Computing Technology at the Karolinska Institutet, Stockholm, Sweden. He is Executive Director and head of BBMRI.se, and coordinates the Nordic BBMRI (Denmark, Sweden, Norway, Finland, Island, Faroe Island and Estonia). He also heads the development of e-epidemiology by using internet, cell-phones, digital paper and digital TV for collecting epidemiology data. Jan-Eric Litton is involved in 8 large EU projects in medicine, including the project BiobankCloud - Scalable, Secure Storage of Biobank Data. Colophon Hub 10, HandsOn: Biobanks 2013 special Hub is the official newsletter of BBMRI- NL (Biobanking and Biomolecular Research Infrastructure). It appears in a circulation of 1,000 copies and as a pdf on the BBMRI-NL website. To subscribe to Hub, info@bbmri.nl or register on en-gb/news/newsletter/ subscribe-to-printednewsletter. Subscriptions are free. Editorial board: Petra van Overveld Gert-Jan van Ommen Nicole van Scherrenburg Ronald Stolk Cisca Wijmenga Gerhard Zielhuis Editor-in-chief: Margot Heesakker-Heintz (m.heesakker@bbmri.nl) Contributions to this issue: Pieter van Megchelen Linda van den Berg Jan-Eric Litton Photography: Thijs Rooimans Lay-out: Margot Heesakker - Heintz Print: Printshop Ouwehand BBMRI-NL is part of BBMRI and is funded by the Netherlands Organisation for Scientific Research (NWO).