title: Improving Health Education for Women Who Carry an FMR1 Premutation.
abstract: Women who carry an FMR1 (i.e., fragile X) premutation have specific health risks over their lifetime. However, little is known about their experience understanding these risks and navigating their health needs. The aim of this study was to use qualitative analysis to uncover both barriers and facilitators to personal healthcare using a framework of the Health Belief Model. Five focus groups were conducted with a total of 20 women who carry the FMR1 premutation using a semi-structured discussion guide. All sessions were transcribed verbatim and independently coded by two researchers. The coders used a deductive - inductive approach to determine the prominent themes related to the participants' experiences seeking healthcare for premutation-related conditions. Salient barriers to personal healthcare included difficult clinical translation of research findings, lack of knowledge among healthcare providers and among the women themselves, different priorities, and shortage of premutation-specific support and targeted educational materials. Facilitators included family members, national and community support organizations, research studies, compassionate physicians, and other premutation carriers. Addressing barriers to personal healthcare through up-to-date educational materials can help diminish misperceptions regarding health risks. Targeted educational materials will aid in information sharing and awareness for women who carry the FMR1 premutation and their physicians.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA. Whitney.Espinel@gmail.com.|Genetic Counseling Training Program, Emory University School of Medicine, Whitehead Building, Suite 301, 615 Michael Street, Atlanta, GA, 30322, USA. Whitney.Espinel@gmail.com.
authors.forename: Whitney
authors.initials: W
authors.lastname: Espinel
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
authors.forename: Krista
authors.initials: K
authors.lastname: Charen
authors.affiliation: Center for Leadership in Disability, Georgia State University, Atlanta, GA, USA.
authors.forename: Lillie
authors.initials: L
authors.lastname: Huddleston
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
authors.forename: Jeannie
authors.initials: J
authors.lastname: Visootsak
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Sherman
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D017144:Focus Groups; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics*; D005600:Fragile X Syndrome / Q000235:genetics; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D017063:Outcome Assessment, Health Care; D010353:Patient Education as Topic / Q000379:methods*; D036301:Qualitative Research; D058996:Quality Improvement
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; C497683:FMR1 protein, human
keywords: Barriers; Educational materials; FMR1 premutation; Facilitators; Focus groups; Fragile X associated disorders; Health Belief Model; Health education; Qualitative analysis