Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

Reproductive genetic carrier screening provides individuals and couples with information regarding their risk of having a child affected by an autosomal recessive or X-linked recessive genetic condition. This information allows them the opportunity to make reproductive decisions in line with their own beliefs and values. Traditionally, carrier screening has been accessed by family members of affected individuals. In recent years, improvements to accessibility and updates to recommendations suggest that all women planning or in early pregnancy should be offered reproductive genetic carrier screening. As uptake moves towards the population scale, how can the genetic counselling needs of such large-scale screening be met? A scoping review of the literature was performed to ascertain what the genetic counselling needs of reproductive genetic carrier screening are, and what future research is needed. Four broad themes were identified in the existing literature: (1) The offer-when and in what context to offer screening; (2) Information-the importance of and what to include in education, and pre- and post-test counselling; (3) Who and how-who the genetic counselling is performed by and how; (4) Personalization-how do we find the balance between standardized and individualized approaches? Based on the existing literature, we present a set of recommendations for consideration in implementing population-scale reproductive genetic carrier screening as well as suggested areas for future research.

Automated summary

Reproductive genetic carrier screening provides information about the risk of genetic conditions, allowing individuals and couples to make informed reproductive decisions. As screening becomes more accessible and recommended for all women planning pregnancy, there is a need to address the genetic counseling needs of large-scale screening. A scoping review identified several themes, including when and how to offer screening, the importance of information and education, the providers and methods of genetic counseling, and the balance between standardized and individualized approaches.