Openness as a norm

March 11, 2015

Pär SegerdahlWhy should scientists save their code keys as long as 20 years after they conducted their study, the Swedish Data Inspection Board apparently wonders. In its opinion to a proposed new Swedish law on research databases, it states that this seems too long a period of time.

Yet, researchers judge that code keys need to be saved to connect old samples to new registry data. The discovery of a link between HPV infection and cervical cancer, for example, could not have been made with newly collected samples but presupposed access to identifiable samples collected in the 1960s. The cancer doesn’t develop until decades after infection.

New generations of researchers are beginning to perceive it as an ethical duty to make data usable for other scientists, today and in the future. Platforms for long-term data sharing are being built up not only in biobank research, but also in physics, in neuroscience, in linguistics, in archeology…

It started in physics, but has now reached the humanities and the social sciences where it is experienced as a paradigm shift.

A recent US report suggests that sharing data should become the norm:

Research is obviously changing shape. New opportunities to manage data mean that research is moving up an IT-gear. The change also means a norm shift. Data are no longer expected to be tied to specific projects and research groups. Data are expected to be openly available for a long time – Open Access.

The norm shift raises, of course, issues of privacy. But when we discuss those issues, public bodies can hardly judge for researchers what, in the current vibrant situation, is reasonable and unreasonable, important and unimportant.

Perhaps it is profoundly logical, in today’s circumstances, to give data a longer and more open life than in the previous way of organizing research. Perhaps such long-term transparency really means moving up a gear.

We need to be humbly open to that possibility and not repeat an old norm that research itself is leaving behind.

Pär Segerdahl

Approaching future issues - the Ethics Blog

Rare diseases need international research infrastructure

January 20, 2015

Pär SegerdahlThere are a few thousand diseases that you never heard the name of. They affect so few people and have no names in the common language.

These diseases are usually called rare diseases (or orphan diseases). They often (but not always) have genetic origin. They often affect children, are disabling and can even be life-threatening, and in many cases organ systems in the body degenerate.

Because the diseases are rare, they are difficult for doctors to diagnose. Even if one manages to make a diagnosis, treatments are often lacking. It’s hard to do research and develop treatments when the patient groups are small and scattered across the world.

In recent years one has begun to prioritize research on rare diseases, not least in the EU. A background to this trend is the development of biobank research. It starts to make it possible to do research on rare diseases, even though the patient groups are small and scattered across the world.

How? Since one can collect samples and data from such patient groups in biobanks that are linked with each other in international networks. Biobank networks thus give researchers access to large enough material to identify genetic and other origins of rare diseases. In this way, one can begin to develop diagnoses and treatments for small patient groups spread across the world.

In an article in the Journal of Biorepository Science for Applied Medicine,

twenty researchers, among them Mats G. Hansson, describe trends in research on rare diseases. They mention several international biobank networks developed to make such research possible, and describe the challenges that they have to deal with.

One challenge is to develop a common standard for how to, for example, document and code samples for rare diseases. Otherwise it is difficult to locate relevant samples in biobanks in different parts of the world and use them in research. One also needs to link the samples to electronic health records. Otherwise, the patterns behind the diseases will not be visible to the research.

Another challenge is that ethical review and governance operate at a national level, and often in different ways in different countries. In one case, mentioned in the article, where the researchers needed to use data from 130 patients from 30 different countries (and collaborate with 103 clinical centers), it took two years to get ethical approval of the project.

The project was not ethically controversial: 97% of the ethical review committees approved the project without requiring changes or further information. The time delay was due to problems of coordination between the governance systems in the different countries.

Another challenge mentioned in the article is to make researchers, doctors and patients aware of the existence of biobanks for research on rare diseases, and the importance of contributing to these biobank networks by collecting samples and updating databases.

The trend to link biobanks in networks has been clear for a while, even independently of the research on rare diseases. But this research really highlights a key feature in today’s biobanking: its infrastructural nature. Research on rare diseases, needing data from patients spread across the world, can therefore also likely accelerate the development of biobanks as infrastructures for future research.

Pär Segerdahl

Part of international collaborations - the Ethics Blog

Building European infrastructures for research

May 28, 2014

PÄR SEGERDAHL Associate Professor of Philosophy and editor of The Ethics BlogThe European Union is traditionally about creating an internal market, where goods, services, labor and capital can move freely between member states.

Lately there have been efforts to create also European infrastructures for research, where researchers in the different member states can collaborate more efficiently, and compete on a global “research market.” A new tool for such European governance of research is the European Research Infrastructure Consortium, abbreviated ERIC.

If at least three member states hand in a joint application, the Commission can establish an ERIC – an international organization where the involved member states jointly fund and manage a European infrastructure for research in some area. In November 2013, an ERIC was established for biobank research: BBMRI-ERIC, placed in Graz, Austria.

Understanding what an ERIC is and whether BBMRI-ERIC has tools to make the diverse regulations for biobanking in different EU member states more uniform, is not easy. However, a “Letter” in the European Journal of Human Genetics addresses both issues:

The letter is written by Jane Reichel, Anna-Sara Lind, Mats G. Hansson, and Jan-Eric Litton who is the Director General of BBMRI-ERIC.

The authors write that although the ERIC lacks substantial tools to make the regulative framework for biobanking more uniform, it provides a platform where researchers and member states can collaborate developing better ways of navigating the complex legal and ethical landscape. The ERIC also facilitates administration, owning and running of equipment and employment of staff on a long-term basis, thus enabling a time perspective proper to research infrastructures (rather than individual research projects). It also provides opportunities to develop common standards for biobanking activities (e.g., handling of samples) that make biobanks function better together.

Finally, because of the required regular contacts with the Commission and representatives of all EU member states, channels are opened up through which the interests of research can be communicated and influence policy areas like data protection.

Read the letter if you are interested to know more about this new way of building European infrastructures for research.

Pär Segerdahl

Part of international collaborations - the Ethics Blog

Revised European data protection will make data about rare diseases even rarer

April 30, 2013

EU is currently discussing changes to the European privacy laws. The intention is to strengthen the protection of privacy and to give people more control over their data.

The problem, which I highlighted on The Ethics Blog, is that the new proposal applies also to research. Presently there is an exception for scientific research about health and disease. The proposed revision of the privacy regulation, however, allows no exceptions.

Every person who has given data to a register must according to the new proposal be asked for consent each time researchers want to study some new disease pattern. Patient data can never be used in research without specific consent, and not even historical registers and data from diseased persons are given exception in the new proposal.

A recent article in Nature Reviews Genetics by Deborah Mascalzoni et al. highlights a patient group that is especially vulnerable to the proposed revision: patients suffering from rare diseases. In Sweden a disease is defined as rare if it affects less than a hundred persons in a million.

Data on rare diseases are, as a matter of course, rare. We therefore know little about these diseases and it is difficult to develop effective medical treatments. To achieve statistically significant analyses, researchers must typically share data over national borders. Every lost piece of data about rare diseases can mean dramatically impaired prospects of new drugs and treatments for these patient groups.

Rare diseases are thus a further strong reason for maintaining the current exception for scientific research in the data protection legislation. Read more on the CRB website.

Pär Segerdahl

Approaching future issues - the Ethics Blog

“The Route” is taking shape

June 27, 2012

Our plans for the interactive part of the conference program for HandsOn: Biobanks, in Uppsala 20-21 September 2012, are taking shape. This part of the program is called “the Route.”

During coffee and lunch breaks, participants can walk through an interactive exhibition illustrating the process of informed consent, data and sample sharing, and new legislation.

Within the Route, participants can also meet law scholars, ethicists, biobank researchers and journalists. They can listen to and participate in conversations on a broad range of issues, such as the role or trust in biobank research, handling of incidental findings, patents, and regulatory processes.

Finally, the LifeGene debate will be discussed with representatives from LifeGene, EpiHealth, the Swedish Data Inspection Board, and the Central Ethical Review Board.

Curious? Do you want to partake in the Route?

Registration is open until September 11.

Pär Segerdahl

I want to contribute to research, not subscribe to genetic information

May 31, 2012

What do researchers owe participants in biobank research?

One answer is that researchers should share relevant incidental findings about participants with these helpful individuals. Returning such information could support a sense of partnership and acknowledge participants’ extremely valuable contribution to research.

I’m doubtful about this answer, however. I’m inclined to think that return of information might estrange participants from the research to which they want to contribute.

Certainly, if researchers discover a tumor but don’t identify and contact the participant, that would be problematic. But incidental findings in biobank research typically concern difficult to interpret genetic risk factors. Should these elusive figures be communicated to participants?

Samples may moreover be reused many times in different biobank projects. A relevant incidental finding about me may not be made until a decade after I gave the sample. By then I may have forgotten that I gave it.

Do I want to be seen as a biobank partner that long after I gave the sample? Do I want my contribution to research to be acknowledged years afterwards in the form of percentages concerning increased disease risks? Wasn’t it sufficient with the attention and the health information that I received when I gave the sample: when I actually MADE my contribution?

Personally, I’m willing to contribute to research by giving blood samples, answering questions, and undergoing health examinations. But if that means also getting a lifelong subscription to genetic information about me, I’m beginning to hesitate.

That’s not what I wanted, when I wanted to contribute to research.

Realizing that my blood sample rendered a lifelong subscription to genetic information would estrange me from what I thought I was doing. Can’t one simply contribute to research?

But other participants might want the information. Should biobank research then offer them subscription services?

Pär Segerdahl

We like challenging questions - the ethics blog

Research before health care

May 10, 2012

Last week I blogged about the unique status that personal data have in science. Researchers are not interested in the persons behind the data and they have no intention of returning to them; an intention that most other personal data collectors have.

In an age of increasing integrity threats, it is uplifting that biobanks and research registers function like depersonalized scientific spaces where our data can orbit between research projects without tendency to return to us and disturb us.

Scientific aims disentangle us from our data.

Simultaneously with my blogging on this topic, Mats G. Hansson here at CRB wrote a letter to Nature on almost the same subject.

Nature recently reported on recommendations to US biobanks to inform participants about medically relevant incidental findings about their DNA. Mats G. Hansson warns that following such recommendations would be irresponsible.

Genetic risk information is highly complex. It is often unclear what the discovery of a particular genotype variant actually says about an individual’s disease risk. And even if increased disease risk can be proven, further research is needed to ascertain which preventive measures would be efficient.

Research must be allowed run ahead of attempts to provide (what looks like) health care services. Reporting incidental findings that have not been validated “could be putting the cart before the horse,” Hansson warns.

Making sure that biobank research runs ahead of (what looks like) health care services has one further function. It sustains the depersonalized status of personal data in research.

I believe this is important when data protection legislation is about to be sharpened to meet new perceived integrity threats. Research might be unduly affected by the new legislation, especially if the unique status of personal data in research is not clear.

When authorities share personal data, the aim typically is to be able to return to individuals with these data – perhaps in court. It is in the nature of scientific data sharing, however, that the individuals behind the data are uninteresting and are not included in the purpose of the data sharing.

Biobank infrastructure is very much about facilitating scientific data sharing. If these infrastructures are well-built, they can serve as reassuring examples in times where integrity threats are assumed to hide behind every corner.

People could then say: “There actually are depersonalized spaces where personal data can circulate safely without burdening the persons behind the data. They are called biobanks.”

Pär Segerdahl

We participate in debates - the Ethics Blog

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