PERCEIVED HEALTHCARE SUPPORT IN GENETICS

Abstract

There is limited research in regard to the support healthcare professionals can provide to help with the impact a genetic disorder can have on the individual and family of the individual diagnosed. The purpose of this research is to better understand the type of support patients and their family received following a genetic disorder diagnosis, what support they wish they had received and if they were referred to a genetic specialist. An anonymous online survey was distributed through email listservs, social media posts, flyers and snowballing. Participants (N=26), ages 18-85, reported their genetic disorder diagnosis, family composition, change in the family following the diagnosis, type of support received from general healthcare professionals and support received from genetic specialists. This research noted that individuals found types of support that are generally helpful, such as communication and explanations, to be least helpful when they were delivered with inadequate or non-comprehensible information. This research found that there was a statistically significant association between the amount of care the individual received and the change in their family dynamic, as well as a statistically significant association between the amount of care received and the quality of the care received. Out of the 26 participants, only three were referred to a genetic specialist, which allowed them to get additional support. From this study, it is important for general healthcare professionals to refer and strongly encourage patients and their families to seek out the help of a genetic specialist so that they can bridge the gap that comes with the lack of specialization in general healthcare settings.