Human genetic research studies genetically determined material (DNA). Following the discovery of the double helix structure of DNA in the 1950’s, technologies were developed which allowed the analysis and amplification of DNA, as well as the insertion of DNA into different cells. Developments in human genetics have led to an increase of knowledge and hope of better understanding the role of genes, their functions, their interactions, and their evolution.

There is a distinction to be made between research dealing with Mendelian diseases (those determined by a single gene) from research dealing with complex diseases (where many genetic and environmental factors contribute to the development of disease). In addition to these, another category can be included: research in population genetics, which aims to study the genetic composition of populations and the factors that influence it.

The Human Genome Project is an international, large-scale scientific collaboration. From 1990 to 2003, researchers working in the United States of America, the United Kingdom, France and in several other countries identified the basic composition of the human genome.

A great deal of important information resulting from this project is already known; for example:

• It is known that the total number of genes is estimated at 30,000, which is much less than what was predicted before the project (around 80,000 – 140,000 genes).
• It is known that the order of the nucleotide bases (elements that form the DNA chain) is almost exactly the same (99.9%) between individuals.
• It is known that only 2% of genes have the function of expressing a protein.

(For more information, please see the HGP’s website in the section “Insights Learned from the Sequence,” http://www.ornl.gov/sci/techresources/Human_Genome/project/journals/insights.html)

This project is a major accomplishment, but it is also a new beginning. All of the bases of the human genome have been sequenced: in other words, all the base components of the genome have been identified. However, the functioning of our genome and the complex interactions between genes and the environment still remain to be understood.

Human genetic research works to study the function of genes identified during the course of the Human Genome Project (HGP) and to identify the genes associated with genetic conditions such as diabetes, hypertension, asthma, arthritis, obesity, cancers (breast, ovarian, uterine, or prostate cancer), Alzheimer’s disease and other neurodegenerative diseases. This research could eventually lead to new treatments or to more effective prevention measures for diseases with a genetic component.

Other researchers address a number of ethical, legal and social issues related to human genetics research.

• The World Health Organization (WHO) in its report entitled Genomics and World Health: Report of the Advisory Committee on Health Research (2002) recognizes the potential benefits of human genetic research and plans for a better collaboration between countries; so that all can benefit from the advantages. In addition, it addresses the question of patenting.
• The World Medical Association's (WMA, 2008) Declaration of Helsinki - Ethical principles for medical research involving human subjects aims at providing guidelines for researchers. It mentions that the preservation of human dignity, privacy, and integrity must be at the heart of considering research involving human subjects. It also states that free and informed consent must be obtained and that prospective benefits of research must outweigh the risks and inconveniences.
• The International Ethical Guidelines for Biomedical Research Involving Human Subjects by the Council for International Organizations of Medical Sciences (CIOMS, 2002) contains several dispositions on the framework surrounding genetic research. According to these dispositions, human genetic research must be approved by an ethics committee. Researchers must make the information that will be provided to participants available to the ethics committee so that the committee may ensure the validity of participant consent in light of the research protocol.
• The Universal Declaration on the Human Genome and Human Rights (1997) by UNESCO’s International Bioethics Committee affirms that the human genome must be protected.
• UNESCO’s International Bioethics Committee suggests that it falls on researchers to pay particular attention to their responsibilities: rigour, prudence, intellectual honesty, and integrity in carrying out their research, as well as in the presentation and use of their results of research on the human genome because such research has important ethical and social implications.
• The Human Genome Organization’s (HUGO) Ethical, Legal and Social Issues Committee Statement on the Principled Conduct of Genetics Research (1996) highlights ethical, legal and social concerns that can arise in the context of genetic research and proposes principles and recommendations.

• At the federal level, there are no laws that specifically explore questions related to human genetic research. Nonetheless, certain articles in the Food and Drugs Act and its various regulations govern the use and sale of medications resulting from research involving humans. This Act could apply in the context of research with the goal of evaluating a genetic test before allowing its use in the clinic.
• Also, certain articles in the Assisted Human Reproduction Act deal with genetic research in humans.
• The Tri-Council Policy Statement (CIHR, SSHRC, NSERC, 1998, 2000, 2005) devotes an entire chapter (chapter 8) to genetic research involving humans.

• The Civil Code of Quebec devotes several articles to human experimentation. Article 20 states that “an adult, capable of consenting, may take part in an experiment as long as the risk involved is proportionate with the benefits that can be reasonably expected.” The situation is different for minors or incompetent adults and is dealt with in Article 21. In addition, Article 22 states that consent must be obtained for research that requires the use of a person’s body part (such as tissue or blood), collected during care. Finally, Article 24 requires that consent to participate in research must be given in writing.
• Certain Quebec laws, having as a goal the protection of the confidentiality of personal and medical information, also deal with research in general and genetic data (Act Respecting the Protection of Personal Information in the Private Sector, Act Respecting Access to Documents held by Public Bodies and the Protection of Personal Information).
• The ‘Plan d’action ministériel en éthique de la recherche et en intégrité scientifique’ (1998) by the Minister of Health and Social Services proposes measures that apply to all establishments of the health and social services network that are taking part in research activities.
• The Guide d'éthique de la recherche et d'intégrité scientifique (2003) by the ‘Fonds de recherche en santé du Québec’ (FRSQ) pertains to research carried out in institutions or by researchers who are funded by this organisation.
• The Quebec 'Réseau de Médecine Génétique Appliquée' (RMGA) has developed two position statements specifically addressing issues surrounding human genetic research (Statement of Principles: Human Genome Research (2000) and Statement of Principles for Genetic Research Involving Children (2007)). These statements constitute non-binding guidelines, but often serve as a reference for ethics committees.

Human genetic research can reveal personal genetic information or group information.  Genetic information is personal, and also has relevance for genetic relatives and populations as a whole. Special consideration needs to be given when personalized genetic research results are communicated to participants around whether such information may or should be communicated with family members or third parties, such as employers or insurers.

The highly personal and private nature of DNA is recognized by the Supreme Court of Canada.

The Tri-Council Policy Statement (1998, 2000, 2005) specifies in its chapter 8 on genetic research, that results from genetic testing and genetic counseling may not be made accessible to third parties unless the participant has given free and informed consent.

UNESCO’s International Bioethics Committee, along with other international bodies, specifies that the human genome, as it naturally exists, should not give rise to financial profits.

On the other hand, under certain conditions, it is possible to commercialize products that have been derived from human genetic research. The Quebec 'Réseau de Médecine Génétique Appliquée' (RMGA) indicates that researchers, institutions or sponsors (for example, pharmaceutical companies) should be able to obtain intellectual property rights on the inventions that derive from genetic material and information (such as genetic tests).

According to the Declaration of Helsinki (2008), research participants must be informed that they have the option to not participate in a study and a right to withdraw from research at any time, without fear of prejudice or any effect on their medical care.

In Quebec, the law indicates that a person can withdraw from a research project at any time: he can do this verbally or in writing (Civil Code of Quebec, Art. 24).

Remuneration refers to payment for participation in research. Compensation refers to the provision of reimbursement or care.

In Quebec, a person may not receive payment for participation in research (Civil Code of Quebec, Art. 25).

He or she may receive compensation for losses incurred while participating. For example, he or she may be reimbursed for transportation or parking costs or be compensated for loss of salary for the time spent participating.

On an international scale, UNESCO’s International Bioethics Committee suggests that “Every effort should be made to ensure that human genetic data and human proteomic data are not used for purposes that discriminate in a way that is intended to infringe, or has the effect of infringing human rights, fundamental freedoms or human dignity of an individual or for purposes that lead to the stigmatization of an individual, a family, a group or communities.”

In Canada, the Tri-Council Policy Statement (1998, 2000, 2005) recognizes that the risks of discrimination are part of the inconvenience of participation in genetic research. The text asks researchers who carry out genetic research projects to make such possible inconvenience known to research ethics committees.

In the United States, the Genetic Information Nondiscrimination Act of 2008 ensures the protection of an individual against discrimination based on genetic information in the domains of health insurance and employment.

The communication of results raises concerns about (a) the type of results (i.e. personalized vs. generalized results), (b) who is responsible for disclosing results (i.e. researchers, physicians?), (c) to whom should results be communicated (i.e. individual research participants, families, groups), (d) how to communicate results, and (e) the right to know or not to know research results.

The Council for International Organizations of Medical Sciences (CIOMS) indicates that, at the time of giving consent, prospective research participants must be informed whether general and/or individual research results will be transmitted or not.

As for the return of general research results, the Quebec 'Réseau de Médecine Génétique Appliquée' (RMGA) states that researchers must communicate these with the participants involved in the research and to the interested public. General research results are often published in scientific journals. Researchers may also decide to publish a bulletin informing participants of generalized research results.

According to UNESCO’s International Bioethics Committee, the Bioethics Committee of the Human Genome Organisation (HUGO), the World Health Organisation (WHO) and the Quebec 'Réseau de Médecine Génétique Appliquée' (RMGA), research participants have the right to choose whether or not to receive individual research results where such results are validated, have significant implications for participant health, and where prevention or treatment options are available. Participants may also choose to not be informed of individual results under what is known as the “right not to know.” According to UNESCO, this “right not to know” should be extended to the parents of minor participants who could be affected by these results.

If a participant wishes to have access to individual results, the Quebec 'Réseau de Médecine Génétique Appliquée' (RMGA) recommends that these be communicated via the participant’s general practitioner.

There is divergence between authors on property rights in this context. No clear consensus has emerged:

• In Canada, the CIHR Guidelines on Ethics in Health Research Involving Aboriginal People (2007) states that researchers should recognize the property rights of individual participants and of the community in the data and biological samples produced or collected during the course of research.
• In Australia, the Australian Law Reform Commission dedicated an entire chapter to this question in its document entitled, Essentially Yours: The Protection of Human Genetic Information in Australia (2003). The chapter explores arguments for and against the adoption of a property regime in this context. The debate continues as to whether property rights in genetic data collected in research should be recognized.
• In civil law jurisdictions such as Quebec, there are no property rights in the body or its elements. The issue is one of the right of control what happens to one’s biological sample. Biobanks are seen as stewards or guardians of samples.