The Future of Pre-implantation Genetic Diagnosis in Canada

Updated: Feb 9, 2019


University of Montreal Professor Vardit Ravitsky and her colleagues call for new professional guidelines to establish the standard of care and legal norms.





A recent analysis of the policy approach towards pre-implantation genetic diagnosis (PGD) in Canada suggests expanding oversight through professional guidelines. The article published in Journal of Obstetrics and Gynaecology Canada (JOGC)* argues that federal legislation and criminal bans may not be suitable for regulating PGD and calls for professional societies to develop guidelines based on a patient-centered approach and respect for individual autonomy in reproductive decision-making.

PGD is a useful diagnostic method for parents at higher than usual risk of passing on a genetic disease to their child. The method is used in in-vitro fertilization (IVF) to select for implantation embryos that do not carry the disease-causing mutation, thus allowing couples to have a child that is unaffected, yet still genetically related. Parents, who are most likely to benefit from PGD, are carriers of genetic mutations that cause severe disorders such as Tay-Sachs disease, sickle cell disease, cystic fibrosis, Huntington’s disease, myotonic dystrophy, and X-linked dominant diseases such as fragile X syndrome and haemophilia A. Other uses include testing for mutations that increase the risk of cancer, carrier status, and choosing an unaffected embryo as a ‘savior sibling’ – a compatible HLA donor for cord blood or bone marrow transplants for their sick child. It is important to note that, to the best of our knowledge, PGD is a safe procedure that does not harm the offspring.

In Canada, pressure is increasing to develop clear and comprehensive regulations on the use of PGD, as currently there is little guidance. The 2004 Assisted Human Reproduction Act does not explicitly mention PGD, although it prohibits its use for sex selection, except in the case of a sex-linked disorder or disease. Under the current law, provinces have jurisdiction over the regulation of fertility clinics and, subsequently, the use of PGD. Quebec has been the only province to develop regulations regarding PGD. The Society of Obstetricians and Gynaecologists of Canada (SOGC) has provided guidelines to ensure that PGD is practiced with proper consent and education. Ravitsky and colleagues argue that expanding professional oversight regarding PGD in Canada is justified as the number of medical conditions it can test for is continuously increasing and there has been a steady growth in the use of IVF, which has made PGD more accessible for many people. Proper guidelines can ensure safe access to the procedure for Canadians and thus reduce medical tourism.

When developing policies regarding PGD, the study suggests several factors to consider. Professional guidelines are stepping stones for provinces to consider when creating official regulations, e.g. the use of expert groups could close the gap between the provincial health department and professional organizations. Policy makers must also be mindful of cultural contexts and maintain a patient-centered approach. Equity of access is another important consideration, given that PGD is an expensive procedure that is not covered by provincial healthcare plans. Public funding or cost-effectiveness analysis may not be optimal for provincial governments, but the issue must still be addressed. In the meanwhile, the study proposes data collection on PGD users to help clinics assess barriers of accessibility for individuals and inform future funding policies.


Although PGD is shown to be a safe and effective diagnostic procedure, many fear that it will increase stigma around disabilities. Therefore, new regulations must consider its social impact and propose policies that enhance social support for those living with disabilities. Public engagement is also crucial when the goal is to regulate a biomedical procedure that is personal, value-dependent and often controversial. Consultations with the public can help develop guidelines regarding the use of PGD that more fully reflect people’s attitudes and values, while allowing them to benefit from an important scientific advancement.


* Ravitsky, Vardit, Minh Thu Nguyen, Stanislav Birko, Erika Kleiderman, Anne Marie Laberge, and Bartha Maria Knoppers. "Pre-implantation Genetic Diagnosis: The Road Forward in Canada." Journal of Obstetrics and Gynaecology Canada 41, no. 1 (2019): 68-71.


Barkhaa Talat is a science writer for the Canadian Institute for Genomics and Society and undergraduate student in the Faculty of Science at McMaster University. She is passionate about science communication and removing barriers to healthcare. To connect, contact me on LinkedIn: https://www.linkedin.com/in/barkhaa-talat-178984116/


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