Prenatal Genetic Testing for Intersex Conditions in Canada

Intersex individuals face human rights violations, discrimination, and stigmatization worldwide. Diagnosis in infants is uncommon, with between 1 in 2000 and 1 in 4500 infants born with ambiguous external genitalia sufficient to warrant genetic and endocrine studies. However, estimates of the actual proportion of the population falling under the broader umbrella of intersex, including sexual variation at the chromosomal, gonadal, hormonal, or genital level, are as high as 1.7%. As the rise of non-invasive prenatal screening (NIPS) capable of identifying intersex conditions at the fetal stage has increased the potential for prenatal detection, there is an urgent need for attention to the potential ethical challenges that may arise from earlier and more frequent detection. There has been growing attention in recent years to the harms faced by intersex individuals at the hands of the medical community. In the prenatal context, genetic counseling is one avenue by which prospective parents might be helped to understand the full spectrum of intersexuality and form realistic expectations for their children. However, best practices and medical policies to prevent stigmatization and discrimination against intersex individuals remain underdeveloped. There is presently a lack of Canadian specific guidance or explicit legal protections for intersex individuals to guide health care providers in their relationship with these patients and their families. In this commentary, we argue that this gap calls for increased training for health care providers that incorporates the voices and concerns of the intersex community.