Perception of genomic newborn screening among peripartum mothers

Abstract

Advances in genomic technology have generated possibilities for expanding newborn screening from traditional procedures to genomic newborn screening (gNBS). However, before the implementation of gNBS, it is crucial to address various aspects, including parental attitudes, at the national level. With this aim, we analyzed the attitudes and expectations of Slovenian peripartum mothers regarding gNBS and the acceptability of its implementation into the Slovenian health system. A questionnaire-based study was conducted on a convenience sample of 1136 peripartum mothers (a response rate of 84.1%) in a hospital setting in Slovenia. We measured participants' level of general genetic knowledge, motivation to undergo gNBS, attitude toward its benefits and drawbacks, willingness to participate financially, and factors that would influence their decision to undergo gNBS. Most participants exhibited a positive attitude (83.2%) and were motivated to undertake gNBS (63.4%). They were willing to share genetic data and also contribute to the testing costs. Mothers with better genetic literacy and higher education level, and those with the familial genetic testing experiences were more supportive of gNBS. However, several emotional and socio-ethical concerns were raised regarding how the genetic information would influence family and social life.

Fig. 1. Distributions of respondents’ answers.

Respondents’ answers to four questions on the 5-points Likert scale regarding the benefits of genomic newborn screening (gNBS) (higher scores = higher agreement) (a). Distribution of attitude index scores for respondents’ support of gNBS (higher scores = stronger support) (b). Effective treatment: The discovery of a genetic predisposition to a disease in a child at birth enables timely and effective targeted treatment of a hereditary disease. Life quality: The discovery of a genetic predisposition to a disease in a child at birth can lead to better medical care and consequently improve the quality of life and extend the child’s life expectancy. Social support: The discovery of a genetic predisposition to the disease in a child at birth enables better social support for the family. Family planning: Discovering a child’s genetic predisposition to the disease at birth is important because it will allow parents to prevent recurrence of the disease in future pregnancies.

Fig. 2. Distributions of respondents’ answers to five questions regarding the impact of genomic information from genomic newborn screening (gNBS) on their emotional and socio-ethical perceptions (higher score = higher agreement).

Sense of security: Genetic information from gNBS would improve the sense of security. Concern and fear: Genetic information from gNBS would trigger concern and fear. Employment decisions: Knowing that my child is a carrier of an incurable genetic disease would affect my employment decisions. Attitude toward family: Knowing that my child is a carrier of an incurable genetic disease would affect my attitude toward family. Partner relationship: Knowing that my child is a carrier of an incurable genetic disease would affect my relationship with my partner.

Fig. 3. Distributions of respondents’ answers to two multiple-choice questions.

Answers to the question: »What factors would influence your decision to undergo genomic newborn screening (gNBS)?« (a); »What genetic diseases would you choose to screen for by gNBS?« (b).