The term "genetic testing" refers to any test that is carried out to obtain information about certain aspects of a person’s genetic status by revealing an existing or potential medical problem. Genetic tests are performed at the request of the patient or their legal representative, health professionals or researchers.

There are two types of genetic tests:

• Diagnostic tests are carried out to detect variations on one or numerous genes, in order to confirm or rule out a diagnosis. They are used in clinical health care settings when symptoms of genetic disease are already present.
• Predictive tests aim to identify a genetic mutation in an individual who does not yet show any symptoms associated with a genetic mutation. They can be divided into three categories:
• Presymptomatic tests are carried out on individuals who do not show any symptoms of a disease to determine whether they have a genetic mutation that will trigger the development of a disease with a genetic origin. Although such tests can indicate whether or not a person will be affected by a genetic disease, at some time in the future, the specific time of disease onset and its severity will remain uncertain.
• Susceptibility tests are carried out to identify people who, in spite of being healthy, carry a genetic mutation that increases the risk of developing a disease that is caused by both genetic and non-genetic factors. The development of such diseases (e.g. cancer or cardio-vascular disease) is influenced by multiple genes, as well as environmental factors. Therefore, although susceptibility testing can indicate increased susceptibility to the development of a genetic disease over the general population, this kind of testing does not indicate whether a person will definitely develop the genetic disease associated with the mutation.
• Carrier detection tests aim to identify people who carry a recessive gene with a mutation that is associated with a genetic disease. Individuals identified as carriers will never develop the disease themselves. However, carriers could have children who are healthy (that is, neither carriers nor affected by the disease), carry the mutation without being affected by the disease, or who are affected by the disease.

It is possible to perform genetic tests at all stages of life, from the embryonic stage to adulthood:

• During in vitro fertilization, preimplantation genetic testing can be carried out on the in vitro embryo before transferring the embryo to the uterus;
• During pregnancy, prenatal genetic testing can be carried out to monitor the health of the developing fetus and of the mother;
• At birth, some genetic tests are performed systematically, as part of pediatric care. This is known as newborn screening and it is carried out on all newborn babies born in the majority of industrialized nations. In Quebec, the fees for these services are covered by the Minister of Health and Social Services. Therefore, all newborns in Quebec have a blood sample taken from their heel and collected on filter paper. The tests conducted on these samples enable the identification and rapid treatment of children affected by or at risk of developing tyrosinemia, phenylcetonuria, and congenital hypothyroidia. These diseases could cause death or irreversible lesions if not treated immediately. Parents are also encouraged to send a urine sample from their child (at 21 days old) to a laboratory for screening of more than 15 hereditary metabolic diseases;
• During childhood as well as in adulthood, diagnostic genetic testing can be carried out in order to confirm or rule out a diagnosis;
• Finally, predictive genetic testing (presymptomatic testing, susceptibility testing, carrier detection testing) are generally available only to adult populations. In rare cases, these kinds of tests are used to test minors; such as when predictive testing will allow preventative measures to be taken that will benefit the child’s health. For example, predictive testing is used to identify children who are carriers of a genetic anomaly that predisposes them to developing a type of colon cancer. This type of cancer normally develops before a child reaches maturity, and the identification of at-risk children allows for the integration of periodic follow-ups, premature treatment and the reduction of morbidity and mortality. In these cases, the appeal to predictive genetic testing is that it is in the best interest of the child.

The global efficiency of a genetic test is measured by three principal indicators: analytic validity, clinical validity, and clinical usefulness. The analytic validity of a test is determined by its capacity to identify a given genotype (the genetic constitution of a cell, an organism, or an individual) with precision and validity. Clinical validity corresponds to the ability of a genetic test to detect or predict the presence or absence of a phenotype (physical characteristic) or a disease. Finally, clinical usefulness concerns the contribution to clinical decision-making and improvements in individual health that a genetic test can make.

A number of normative international documents address genetic testing. Certain documents exclusively explore this subject, whereas others take a more general approach and include specific dispositions on genetic tests.

• For genetic testing carried out in a clinical context, the Organisation for Economic Co-operation and Development (OECD) states that informed consent is a prerequisite, that genetic counseling should be available both before and after testing, and that the protection of confidentiality and security of personal genetic information should be ensured (Guidelines for Quality Assurance in Molecular Genetic Testing, 2007).
• The 25 Recommendations on the ethical, legal, and social implications of genetic testing (European Commission, 2004) explores the use of genetic testing for both clinical and research purposes. It addresses data protection (confidentiality, privacy, autonomy), protection against discrimination, consent, and genetic counseling.
• The International Federation of Gynecology and Obstetrics (FIGO), in its Recommendations on Testing for Genetic Predisposition to Adult Onset Disease (2001), specifies that susceptibility testing for genetic diseases should not be carried out or proposed in the absence of informed consent. Likewise, it clarifies that consent for susceptibility testing is different from other forms of genetic testing because of the complexity around the multiple causes of disease onset, such as multiple genes, lifestyle, and environment. These recommendations also address the confidentiality of genetic testing and results. Finally, in the context of research on genetic predisposition, researchers must ask research subjects if they wish to keep the results confidential or if they wish for this information to be accessible to their biological relatives where results could be important to the relatives’ health.
• The World Health Organization (WHO), in its report entitled Medical Genetic Services in Developing Countries (2006), mentions that participation in genetic testing must be voluntary, informed, and supported by a genetic counsellor.
• The World Medical Association Statement on Genetics and Medicine (2005, amended 2009) sets out prerequisite conditions for genetic testing. Notably, it specifies that predisposition testing will only be carried out with consenting adults, except in cases where there is existing treatment for the disease in question and where test results would facilitate the quick establishment of this treatment.
• The International Declaration on Human Genetic Data (IBC, UNESCO, 2003) sets conditions for ethically acceptable genetic testing. It also states that during discussion of genetic testing that could have important implications for an individual’s health, genetic counseling must be proposed. This counseling must be non-directive, culturally adapted and conform to the best interests of the person involved. This document also states that genetic testing performed for diagnostic and health care purposes in minors or incompetent adults is only ethical if it has important implications for the testee’s health and takes into account his or her best interests.
• The Convention on Human Rights and Biomedicine (Council of Europe, 1997) states that predictive genetic testing may only be carried out 1) for medical or medical research purposes; 2) once the person involved has given his or her consent; and 3) under the condition that appropriate genetic counseling was provided (Article 12).

A number of normative international documents address genetic screening. Key documents are highlighted below:

• The World Health Organization (WHO), in its report entitled Medical Genetic Services in Developing Countries (2006), states that genetic screening programs must be supported by public education measures and genetic counseling. Furthermore, decisions concerning participation in these programs must be voluntary and informed.
• In its Report on the Control of Genetic Diseases (2005), the WHO specifies that genetic screening programs must be supported by statutory structures, allowing people to make informed decisions and to ensure that they are protected against all forms of discrimination related to test results.
• The WHO also has a more specific report dealing with genetic screening for sickle-cell anaemia (Report by the secretariat of WHO: Sickle-cell anaemia, 2006). This report recommends, among other things, that sickle-cell anaemia should be screened for at birth, by way of newborn screening programs.
• The World Medical Association (WMA) Statement on Genetics and Medicine (2005, amended 2009) states that the results of genetic screening must be strictly confidential and must not be revealed to third parties (e.g. employers or insurance companies) without the testee’s consent.
• Concerning newborn genetic screening, the International Society for Neonatal Screening (ISNS) recommends that routine screening be conducted when: 1) there is a direct benefit for the child, if the disease is rapidly diagnosed; 2) benefits are reasonably balanced with regard to the costs associated with screening; 3) a reliable test exists; and 4) an appropriate system consisting of testing, genetic counseling, treatment and follow-up is in place. The ISNS also underlines the importance of public education (ISNS General Guidelines for Neonatal Screening, 2002).
• In the context of genetic screening for employment, it is held that this practice impinges on human rights and that current scientific knowledge in this domain is not sufficient to justify its use with a view to health promotion in the workplace (International Labour Organization (ILO), Technical and Ethical Guidelines for Workers' Health Surveillance (1998)).

In Canada, there are no legal rules specifically addressing genetic testing. However, various organisations (professional, governmental, etc.) have created recommendations on the use of genetic tests.

• For example, the Canadian Agency for Drugs and Technologies in Health (CADTH) states that it is essential to offer services with appropriate information before and after predictive genetic testing occurs, as well as genetic counseling services and a long-term follow-up (Predictive Genetic Testing for Breast and Prostate Cancer, 2000).
• Another example is the Canadian Life and Health Insurance Association Inc., which has a position statement on genetic testing (2003). It states that insurers must not ask insurance candidates to undergo genetic testing.
• Additionally, in Canada, there is an instrument addressing the ethical conduct for research involving humans: Tri-Council Policy Statement (CIHR, SSHRC, NSERC, 1998, 2000, 2005). According to this document, in a research context, researchers and ethics committees have a duty to ensure that genetic test results and genetic counseling records are not accessible to third parties unless the research subject has given his/her free and informed consent to such access (Article 8.2).

In Canada, there are no legal rules specifically addressing genetic screening. However, certain Canadian organizations have created recommendations in this area.

• For example, the Society of Obstetricians and Gynaecologists of Canada has guidelines on specific subjects, such as Prenatal Screening for Foetal Aneuploidy (2007). According to these guidelines, screening programs should include a non-directive genetic counseling service and respect patient choices to either accept or refuse all options or screening offered to them at any time during the process. Another example is the Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent, which establishes the criteria for the implementation of a carrier screening program.
• The Canadian Paediatric Society has created Guidelines for Genetic Testing of Healthy Children (2003). These state that the child’s best interests should be the primary consideration in undergoing screening. Furthermore, in all situations involving genetic screening in healthy children, the short-term medical benefits for the child should be the main justification, and parents should be informed of the potential psychological and social risks of screening. In cases of genetic pathologies that reveal themselves in adulthood (revealed in susceptibility screening or predictive screening), screening should not be conducted until the child is able to decide whether he or she wishes to obtain such information. As for determining carrier status, which has primary relevance in the context of reproductive decision-making, such screening should be discouraged in children until they are able to completely take part in the decision of whether or not to undergo such testing.
• Finally, Health Canada created a document dealing with Selected Legal Issues in Genetic Testing: Guidance from Human Rights (2001), which explores confidentiality, protection of privacy, discrimination, participation, and public information in the context of genetic screening.

In Quebec, there are no legal rules specifically addressing genetic testing. However, general legal provisions can apply to genetic testing.

• For example, the Civil Code of Quebec contains articles dealing with personal integrity that can apply to genetic testing.
• Various organizations have created recommendations concerning genetic testing. For example, the ‘Comité d’éthique de santé publique’ released an opinion in 2007 on genetic testing for recessive hereditary diseases (Avis sur le Projet-pilote d’offre de tests de porteur pour quatre maladies héréditaires récessives au Saguenay-Lac-St-Jean). It states that the identification of carriers, by way of genetic testing, for recessive diseases must have a diagnostic objective. When testing is discussed, as well as when results are communicated, those tested must be well informed about the diseases being tested for. It is important to ensure complete comprehension of the information received.

In Quebec, there are no legal rules specifically addressing genetic screening. However, general legal rules can apply to genetic screening.

• For example, the Civil Code of Quebec contains general provisions dealing with personal integrity that can apply to genetic screening.
• Various organizations have created recommendations that address genetic screening. For example, the 'agence d’évaluation des technologies et des modes d’interventions en santé’ (Aetmis) created a report entitled Tandem Mass Spectrometry and Neonatal Blood Screening in Quebec. This report recommends, among other things, that a clear policy concerning the information communicated to parents be created and that consent be established. It also states that sample conservation policies (duration, justification, and conditions for conservation) and policies addressing the permitted uses of secondary information be revised.
• The ‘Institut national de santé publique du Québec’ created a 'Rapport d’évaluation du programme québécois de dépistage sanguin des maladies génétiques chez le nouveau-né' (2005) in which it recommends the establishment of a clear policy concerning consent and the information to be transmitted to the parents.

Generally, consent is necessary before proceeding with a genetic test or genetic screening.

In the case of neonatal screening, the question of the necessity of obtaining an explicit consent is debatable. Most countries that have established newborn genetic screening programs operate without the parents’ explicit consent. In the case of diseases that must be treated immediately, some consider screening to be a part of routine pediatric care and that obtaining explicit consent is therefore not necessary. Parents have a duty to act in their child's best interests. They have the right to be informed which diseases are screened for, as well as the goals and objectives of a newborn screening program. They may also refuse newborn screening if they wish.

Genetic testing and screening reveal a certain type of information: genetic information. The handling of this information is sensitive because it has unique characteristics. Genetic information is, at the same time, both individual and familial due to its hereditary nature. Questions surrounding the confidentiality of an individual’s results in the family context (the genetic information does not solely affect the individual, it also involves his family, his relatives, and his ancestry) or with respect to third parties, such as employers or insurers, are raised.

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

In the short-term, results that reveal that a child is a carrier of a genetic mutation could give rise to stress and anxiety for the child and his/her parents, or even influence the parents’ perception of their child. A child's genetic information may also influence parental reproductive decisions. In the long-term, such results could lead to a decrease in self-esteem and affect family relationships.

Disclosure of carrier status information to the child’s parents could result in a breach of the child’s rights to privacy and confidentiality. For example, the parents could attempt to intervene in the child’s life decisions (choice of spouse, reproductive choices, etc.). Moreover, should parents opt to pass the information on to the child, this could breach the child’s “right not to know.” Yet for minors, genetic information, like all medical information, may be useful for making health, lifestyle and reproductive decisions.

Samples collected during genetic screening may be stored and used for purposes not directly related to the screening itself. An example is that created from sample storage in newborn screening programs. These samples may be used for:

1. Diagnosing diseases, before or after the appearance of symptoms;
2. Identifying a cause of death;
3. Identification after death;
4. Checking the quality of screening programs;
5. Carrying out epidemiological studies, for example, to determine the frequency of genetic anomalies within a population or to monitor the influence of environment and lifestyle choices on the state of health;
6. Carrying out scientific research in order to identify, for example, new genetic variations playing a role in the development of diseases;
7. Training or teaching purposes.

The World Health Organization (WHO) recommends that specific consent be obtained for secondary uses, for example the use in research of blood samples collected in a newborn screening program. According to WHO, this consent could be broad to allow sample use in several different research projects, if these projects have similar objectives and are approved by an ethics committee.

In Canada, newborn screening laboratories are responsible for bloodspots and authorize the release of bloodspots. Storage timelines are variable across the country and are regulated by laboratory directors.

Quebec newborn screening laboratories store newborn screening samples to 1) confirm results and 2) check quality. Quebec law and policy does not directly address storage duration for newborn screening samples. This issue is left to the discretion of laboratory directors. In practice in Quebec, samples are conserved approximately one year.