Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families

Abstract

Congenital adrenal hyperplasia (CAH), like other genetic conditions, is a relational disease from both the biological and psychosocial perspectives since the diagnosis gives rise to a variety of health, reproductive, and psychosocial implications. It is in these contexts that family communication of genetic information is important to study. Hence, this research aimed to explore genetic information communication in Filipino families affected with CAH. Using a qualitative descriptive design, families with a child affected with CAH were recruited through the CAH parent support group and were interviewed. Semi-structured interviews explored flow and content of genetic information communicated, the meanings the families attach to the communicated information, and the motivating and hindering factors in communication. Thematic analysis was used to analyze the findings. A total of five families participated, which included 11 individuals. Findings revealed that the diagnosis of CAH is not kept secret and it is openly shared with the family. The decision to communicate is influenced by several factors including the family's desire to seek further information about their family history. Initially, the focus of the communicated information is on the health implications and while communication about genetics occurs, this is almost always confined to the immediate family. The mother and grandmother serve as primary communicators in the family. The families have limited understanding of CAH especially its genetic implications including recurrence risk and carrier status. The findings can guide genetic counselors in supporting families in communicating information about CAH with the rest of the family.

Adrenal Insufficiency in Young Children: a Mixed Methods Study of Parents’ Experiences

“…It is important in healthcare systems that awareness around adrenal crises is improved and that there is a pathway for rapid referral to clinicians with experience in treating adrenal failure. Genetic counsellors have a role in talking with families about the recurrence risk for future children and previous research has also highlighted the importance of their role in supporting parents to communicate with other family members following diagnosis (Abad et al 2017 ). Such support may be crucial in identifying others at risk and ensuring early diagnosis.…”

“…Recent studies have also highlighted inadequacies in information and support provided to parents post-diagnosis (Boyse et al 2014 ): in preparing them for managing adrenal crisis (Fleming et al 2017b ); in communicating genetic risk to other family members (Abad et al 2017 ); and in learning how to cope, make sense of their new situation and talk to their child (Lundberg et al 2016 ). Research studying the parental experience of childhood illness is important as parents often take on the role of mediator and intermediary, particularly between the child patient and the professional (Hummelinck and Pollock 2006 ); they play a crucial role in how children adjust and manage illness (Aytch et al 2001 ); and they underpin the well-being of the family unit (Fisher 2001 ).…”

‘If I knew more… I would feel less worried’: Filipino Americans’ Attitudes and Knowledge of Genetic Disease, Counseling, and Testing

“…It is important to note that many of these conditions are considered multifactorial and caused by a combination of genetics and environmental factors [19]. These prevalent diseases among Filipinos and culturespecific disease beliefs further support the need for genetic health professionals to facilitate conversations pertaining to genetic disease and to help support and inform this population in a culturally sensitive manner [6,20].…”

“…As the abundance of genetics research continues to grow, new treatments, prevention, and diagnosis methods have been discovered, illustrating its practical utility in healthcare [4]. Despite its proven utility, awareness of genetic disease and utilization of services remains unequal across different racial and ethnic groups [5]. Recent studies have found consistent inequities among Asian Americans as it relates to awareness of and access to genetic services [6, 7].…”

Medical Genetics: …still growing and expanding…

“…It opened doors for research collaboration between specialties within the country and overseas. 3 More importantly, it paved the way for better care for patients through sharing of expertise, best practices and the crafting of clinical practice guidelines. 4 Acta Medica Philippina Genetics 6 highlights the diversity of applications and reach of medical genetics into various aspects of health care: preconception, early neonatal detection of treatable genetic metabolic conditions, disease risk detection and allelic associations, gaps in education of genetic conditions and genetic counselling.…”