There are two ways to protect the confidentiality of information or biological samples: coding and anonymizing.

A coded sample (such as blood or tissue) or coded information (such as answers to a questionnaire) is identified by a specific code (for example, a number), rather than using the personal data (such as name or address) of the person who provided the sample. This makes it more difficult to identify the person who provided the information because the link between the code and the individual is protected by various mechanisms.

An anonymized sample or information means that the link between the sample or information and the personal data of the individual from whom it was taken has been destroyed. This makes it impossible to identify the person from whom the sample originated. Anonymisation makes it impossible to return results to participants or to conduct follow-up.

Like all medical information, the results of genetic tests can potentially reveal personal information such as current health status or susceptibility to an illness.

Protecting the confidentiality of genetic information is necessary to ensure that third parties (individuals, insurers, employers, schools) cannot access personal information without the consent of the individual to whom the information relates.

• The World Medical Association Statement on Genetics and Medicine (WMA, 2005) states that the results of genetic testing must be kept confidential and that physicians should support laws offering protection from genetic discrimination.
• Resolution 2004/9: Genetic Privacy and Non-Discrimination (UNESCO, 2004) and Resolution 2001/39: Genetic Privacy and Non-Discrimination (UNESCO, 2001) affirm that information obtained from genetic tests should be held confidential and urges States to protect the privacy of those who undergo genetic testing.
• The International Declaration on Human Genetic Data (IBC UNESCO, 2003) provides that States should protect the privacy of individuals and the confidentiality of human genetic data.
• The Universal Declaration on the Human Genome and Human Rights (IBC UNESCO, 1997) also holds that genetic information must be kept confidential.
• The International Ethical Guidelines for Biomedical Research Involving Human Subjects (CIOMS, 2002) requires researchers to establish secure safeguards for the confidentiality of subject’s research data.
• The Statement of WHO Expert Advisory Group on Ethical Issues in Medical Genetics (WHO, 1997) states that genetic data should be treated as highly confidential at all times.
• The Proposed International Guidelines on Ethical Issues in Medical Genetics and Genetic Services (WHO, 1997) proposes guidelines concerning disclosure and confidentiality.
• The Convention on Human Rights and Biomedicine (Council of Europe, 1997) states that everyone has the right to respect for private life in relation to information about his or her health.
• The Statement on the Principled Conduct of Genetics Research (HUGO, 1996) states that recognition of privacy and protection against unauthorized access be ensured by the confidentiality of genetic information.

• The federal Privacy Act (1983) provides rules for the collection, retention and disposal of personal information; it applies solely to federal government institutions.
• The federal Personal Information Protection and Electronic Documents Act (2000) sets rules for the collection, use and disclosure of personal information in the course of commercial activities.
• The Tri-Council Policy Statement (CIHR, SSHRC, NSERC, 1998, 2000, 2005) provides guidelines for the protection of privacy and confidentiality of genetic data in a research setting.
• The CIHR Best Practices for Protecting Privacy in Health Research (CIHR, 2005) provides guidance in the interpretation of the Tri-Council Policy Statement.
• Genetic Testing and Privacy (Privacy Commissioner of Canada, 1995) recommends protecting the confidentiality of genetic data.

• The Quebec Charter of Human Rights and Freedoms (Art. 5) states that every person has a right to respect for his private life.
• The Civil Code of Quebec (Art. 3) provides that every person has a right to privacy.
• An Act Respecting Access to Documents Held by Public Bodies and the Protection of Personal Information applies to the collection, use, release and keeping of personal information by public bodies.
• An Act Respecting the Protection of Personal Information in the Private Sector applies to personal information collected, held, used or communicated in the course of carrying on an enterprise in the private sector, such as a private medical clinic.
• The Final Report of the Advisory Group on a Governance Framework for Data Banks and Biobanks Used for Health Research (FRSQ, 2006) recommends appropriate legislation be established to ensure that participation in health research is confidential and prohibits requests for information regarding that participation by employers or insurers.
• The Énoncé de principes sur la conduite éthique de la recherche en génétique humaine concernant des populations (RMGA, 2003) recognizes the confidentiality of genetic data.
• Les enjeux éthiques des banques d'information génétique : pour un encadrement démocratique responsable (Commission de l’éthique de la science et de la technologie, 2003) discusses the confidentiality of data. It recommends that only anonymized data be permitted to leave Quebec.
• Health and Welfare in the Age of Genetic Information: Managing the Individual and Social Issues at Stake (Conseil de la santé et du bien-être, 2003) recommends the regulation of access by insurers and employers to medical information.
• The Énoncé de principes : Recherche en génomique humaine (RMGA, 2000) requires the confidentiality of genetic data. It impedes the divulgation of genetic data to insurers and employers except in cases where the person has given consent or where authorized by law.

Children’s individualized research results and genetic testing and screening results are disclosed to their legal parents or guardians. However, Article 14 of the Civil Code of Quebec allows minors 14 years of age and older to consent to medical care and so the results of genetic testing and screening carried out for the purpose of medical treatment for children of this age will be disclosed only to the child tested. In contrast, for participation in research, the age of consent is 18 in Quebec (Art. 20 CcQ) and so the research results of adolescent participants will be shared with those exercising parental authority.