Developing genetic counselling services in an underdeveloped healthcare setting

Abstract

Genetic counselling services are well established in North America, Western Europe and Australia. In other regions, genetic counselling services are still emerging. Where this is the case, an in-depth understanding of the main stakeholders’ needs, challenges and opportunities will inform the changes and innovations required to bring genetic counselling closer to the community. The present study explored the needs and challenges of patients, family members and professionals with a view to setting up a cancer genetic counselling service in Romania. In order to get a comprehensive outlook, key stakeholders were interviewed using data source triangulation method. Thirty-four semi-structured interviews were conducted (13 patients, 11 family members and 10 professionals). Thematic analysis was used to explore and identify needs, barriers and opportunities in emerging cancer genetic counselling services. Three major themes were identified: (1) the “Needs” theme mainly focuses on various types of support that participants mentioned wanting: psychosocial, peer and additional support; (2) the “Challenges” theme includes aspects related to limited access to healthcare, lack of integrated services and pressure on the families; (3) the “Hopes” theme highlights the wish for integrated healthcare and an empathic rapport with healthcare providers. Our findings highlighted the main needs, challenges and hopes the patients, family members and professionals have and provides the groundwork for setting up cancer genetic counselling services.

Global trends and themes in genetic counseling research

“…Finally, hereditary cancer is evaluated when a person has a maternal or paternal family history with suggestive symptoms, depending on the type of cancer and specific hereditary syndrome. More studies are needed to build a cancer genetic counseling service to enable fair access for all patients [ 12 ]. In order to establish a cancer genetic counseling service, more studies are needed to look into the requirements and obstacles of patients, family members, and specialists particularly, in different settings/countries to ensure equitable access to all patients [ 12 ].…”

“…More studies are needed to build a cancer genetic counseling service to enable fair access for all patients [ 12 ]. In order to establish a cancer genetic counseling service, more studies are needed to look into the requirements and obstacles of patients, family members, and specialists particularly, in different settings/countries to ensure equitable access to all patients [ 12 ].…”

Families with complex needs: an inside perspective from young people, their carers, and healthcare providers

“…The needs of families living with complex conditions such as genetic disorders are not well documented in the context of emerging services, for instance multidisciplinary clinic genetic services and genetic counselling in countries like Romania where these pathways are currently being established (Abacan et al, 2019; Ciucă et al 2021 ). In fact, very few studies have simultaneously addressed the perspective of all stakeholders involved in this process: parents, affected young people and healthcare professionals.…”