Population genomics is the study of the role of genetic factors in populations, their influence on health and disease and their evolution and adaptation. These factors include environmental conditions, diet, stress, social habits and migration patterns. Thus, the size of a population or the geographical migrations that it has undergone, as well as the environment to which it is exposed, might explain the presence of certain genetic characteristics and their manifestations. In human population genomics, the focus of study is not the individual but rather the entire group of people to which he/she belongs.

A research project in population genomics might examine the presence or absence of certain genes in a sub population (for example, a gene related to the development of familial hypercholesterolemia). Such a study could also observe both the frequency of physiological characteristics (such as blood pressure) and of diseases (such as cardiac illnesses) within the given sub population. It could also examine interactions between environmental and genetic factors.

This type of project involves large numbers of people, allows statistical analyses and presupposes the creation of genetic databases and biobanks.

Population genomic research allows researchers to identify and understand genetic and non-genetic factors involved in health and in the development of complex or common diseases. These conditions, such as asthma and various cardiovascular illnesses, may be caused by the interaction of several genes, as well as by environmental factors. They can also be linked to lifestyle choices, such as diet and exercise.

Extensive population research projects are planned or are already in progress in several countries. Examples include the Quebec initiative (CARTaGENE), and other projects in Iceland, the United Kingdom, Sweden, Japan, the Netherlands and Estonia. These projects study the relationship between genetic and non-genetic factors, such as environmental factors and lifestyles, in the development of disease and health maintenance.

CARTaGENE is a public infrastructure to facilitate research in population genomics. Financed solely by public funds, CARTaGENE will contribute to the improvement of diagnoses, treatments and disease prevention programs.

CARTaGENE is a resource that supports the advancement of genomic research. Its goal is to improve the health of the Quebec population. This supervised and public resource contains a database and a biobank and will include environmental, demographic and health related data. The biobank will contain DNA as well as blood and urine samples. 20,400 individuals between the ages of 40 and 69 will be randomly selected to take part in the project. This sampling represents 1% of the population in this age group from selected regions in Quebec.

Access to this database, as well as to biological samples will be granted to researchers looking to better understand how genes interact with one another, with the environment, and based on different lifestyles.

Link to the project's website: http://www.cartagene.qc.ca

A biobank is a repository of data or biological tissues. It contains genetic, medical, biochemical or genealogical data and data related to these tissues are sometimes added to the database. Biobanks are methodically organized to facilitate clinical or research use.

The ‘Fonds de la Recherche en Santé du Québec’ (FRSQ), in its proposed Governance Framework for Data Banks and Biobanks Used for Health Research (2006), defines a bank as “a systematic collection of data or of biological material that may be used for health research”.

In Quebec, according to the Commission de l'éthique de la science et de la technologie (CEST), biobanks exist according to various characteristics. Some contain tissues such as DNA, tissues from the brain or heart donated following death, or cells. The information contained in databases also varies. It can be genetic, proteomic (pertaining to proteins) or medical. Psychological or social information can also be added to this data.

A population biobank contains information on an entire population, a region, or a disease group. Population biobanks are often used for research projects in population genomics.

According to the Council of Europe’s Recommendation on research on biological materials of human origin (2006), a population biobank is:

“A collection of biological materials that has the following characteristics:

i.    The collection has a population basis;

ii.    It is established, or has been converted, to supply biological materials or data derived therefrom for multiple future research projects;

iii.   It contains biological materials and associated personal data, which may include or be linked to genealogical, medical and lifestyle data and which may be regularly updated;

iv.   It receives and supplies materials in an organised manner.”

• The Organisation for Economic Co-operation and Development (OECD) specifies that a biobank must, during its entire existence, respect human rights and the fundamental liberties and ensure the protection of privacy and the confidentiality of data (Draft Guidelines for Human Biobanks and Genetic Databases, 2008).
• The Ethics Committee of the Human Genome Organization (HUGO) specifies that it is necessary to respect the choices and values of families/populations regarding the use of their data/samples. It also upholds that biobanks must serve the common good. (Statement on Human Genomic Databases, 2002).
• The Council for International Organizations of Medical Sciences (CIOMS) recommends that researchers consult and inform the population they want to study before starting genomic research. See the CIOMS’s International Guidelines for Biomedical Research Involving Human Subjects (2002).
• The World Medical Association mentions in its Declaration on Ethical Considerations Regarding Health Databases (2002) that:

“Safeguards must be in place to ensure that there is no inappropriate or unauthorised use of or access to personal health information in databases, and to ensure the authenticity of the data. When data is transmitted, there must be arrangements in place to ensure that the transmission is secure” (Art. 14).

• The Guidelines for Health Research Involving Aboriginal Peoples (2007) are set by the Canadian Institutes of Health Research (CIHR) and provide guidelines for populational research carried out within Aboriginal communities.
• The Tri-Council Policy Statement (CIHR, SSHRC, NSERC, 1998, 2000, 2005) does not specifically address population genomics. However, it underlines that “in the case of population studies, it is possible to identify a given group by its family origin, its geographic location, its ethnic origin, etc. and the act of revealing or exposing the results of these studies to the public runs the risk of stigmatizing others in this group.”
• The Tri-Council Policy Statement also foresees certain particularities for researchers who are proposing projects that require the use of genetic databases. These researchers have to prove to a research ethics committee and to participants that they took into consideration ethical questions related to their project, such as those related to respecting privacy and personal information, the conservation and use of data and ulterior results obtained through research, the withdrawal of data by the participant and all future communication with participants, families, and populations.

• The Énoncé de principes sur la conduite éthique de la recherche en génétique humaine concernant des populations (2003) from the Réseau de medicine génétique appliqué (RMGA) addresses duties to consult the population of study, states that individuals recruited for such research must be informed that they are representing their community, and details requirements for benefit sharing. According to the RMGA, risk information provided to individuals and populations should include the possible risks of socio-economic discrimination and stigmatization that could result for the population if it is found that the population, as a whole, presents a particular genetic risk.
• The FRSQ proposal for a Governance Framework for Data Banks and Biobanks Used for Health Research (2006) proposes guidelines to be incorporated into the FRSQ standards, as well as modifications to current administrative norms and to Quebec legislation. It also discusses issues related to the collection, treatment, usage, conservation, and management of databases and biological material banks for the purpose of health research.

To obtain the free and informed consent of research participants for population genomics research, details of the research project including expected results, prospective benefits and harms associated with the project generally as well as those anticipated for individual participants, inconveniences and risks of participating in the project, the steps taken to protect data confidentiality and security, and the possibility of commercialization should be communicated. This is an exemplary list and is not necessarily exhaustive.

To establish a biobank like CARTaGENE, participants must consent to the use of data and samples in future research. Such a broad consent approach is deemed acceptable with approval by a research ethics committee and when secondary uses of the data include measures to protect participant confidentiality.

A governance framework for a biobank guides its management. The way a biobank is governed will depend on the following elements :

1. Scientific evaluation;
2. Ethical evaluation;
3. Laws on the protection of information, data registry, statistics, and research on human beings;
4. Restrictions from funding organizations;
5. Guidelines for biobanks and/or for research using tissues/elements of the body;
6. Mechanisms to evaluate access to the biobank or project resources by third parties.

At the federal level in Canada, there is a lack of guidance for research ethics boards reviewing prospective biobanks.

In Quebec, the FRSQ proposal for a Governance Framework for Data Banks and Biobanks Used for Health Research, outlines twelve elements for biobank governance frameworks:

1. The role of bank as trustee (as opposed to ‘owner’);
2. Clearly defined accountability for information and samples;
3. Continuing staff training on pertinent issues in biobanking;
4. Mandatory approval of the biobank and research projects by a competent research ethics committee;
5. Clearly determined research objectives;
6. Determining the need for free and informed consent;
7. Free and informed consent obtained, as needed;
8. Appropriate storage of data and biological material and confidentiality protection;
9. Access to personal information by participants;
10. Transparent management practices;
11. An appointed grievance officer;
12. Confidentiality protection for shared samples and information.

While genetic information is personal, and protection of donor confidentiality is important, it also has relevance for the family and for the population as a whole. Therefore the privacy of participants and the confidentiality of their results must be protected for their own sake as well as for the sake of their family members and the population group to which they belong.

Furthermore, biobanks face unique challenges. These challenges relate primarily to the conservation and use of information and results, the removal and destruction of information, and to all future communication with participants and populations.

The storage, use, transportation, sharing, and destruction of biological samples also present challenges in matters of confidentiality that are unique in the context of biobanks.

International collaborations between large scale projects in population genomics raises particular challenges related to access to data and samples by local and international researchers, scientific and ethics approval, the sharing of samples/data, and the harmonization of internal biobank management policies around the world. An international consortium known as Public Population Project in Genomics (P3G) (

) was created in order to develop common research tools and facilitate international collaboration.

The use of data and biological samples could lead to the eventual commercialization of genetic tests or pharmaceutical products. In general, participants in population genomic research projects are not paid, but they are informed of the possibility of future commercialization of the results of research.

In general, population biobanks that are subsidized by public funding do not have commercialization as a main objective; rather, they focus on the sharing of results with the scientific community and the population.