Genetic Testing Preferences and Intentions in Patients with Clinically Diagnosed Familial Hypercholesterolemia

Familial Hypercholesterolemia;genetic testing;decision making;genetic testing intention;benefits;risks;attitudes;psychosocial;Genetic Counseling

Wand, Hannah ElizabethKlein, William M. P. ;

Johns Hopkins University

关键词: Familial Hypercholesterolemia;    genetic testing;    decision making;    genetic testing intention;    benefits;    risks;    attitudes;    psychosocial;    Genetic Counseling;   

Others  :  https://jscholarship.library.jhu.edu/bitstream/handle/1774.2/58706/WAND-THESIS-2017.pdf?sequence=1&isAllowed=y

瑞士|英语

来源: JOHNS HOPKINS DSpace Repository

【 摘 要 】

PurposeFamilial Hypercholesterolemia (FH) is a common (1/250) Mendelian disorders thatresults in elevated LDL cholesterol levels from birth, and if left untreated can result inpremature heart disease. Only up to 10% of affected individuals are clinically identified. Thisis problematic as early statin intervention reduces morbidity and mortality. Currently, thereare no standard diagnostic criteria in the US. Genetic testing for FH is reportedly 80%sensitive (Brautbar et al., 2015) and could greatly improve diagnostic accuracy andmanagement. Few patients in the US have a genetic diagnosis (Ahmad et al., 2016) and littleis known about patients’ reasons to pursue, or not pursue, FH genetic testing.The primary objective of this study is to identify predictors of FH genetic testingintentions in patients with a clinical FH diagnosis. Guided by the Health Belief Model andTheory of Planned Behavior, we predicted that high perceived benefits from and positiveattitudes towards genetic testing would predict intentions to have testing; whereas highperceived risks or barriers would lower these intentions.MethodsWe recruited patients with a clinical diagnosis of FH who have not had genetic testingthrough the FH Foundation, in lipid clinics throughout the US, and at the FH Summit.Participants completed the survey online or on paper in person. We assessed attitudes,benefits, risks and barriers of genetic testing as potential predictors for testing intentions.Exploratory factor analysis collapsed items into factors that were used as independentvariables in a linear regression with testing intention as the outcome. We controlled for ageand gender and tested for interactions among factors.ResultsExploratory factor analysis identified three factors: (1) aversion, (2) curiosityregarding medical/family history, (3) and psychological reassurance. Reassurance was theonly significant predictor for genetic testing intention in our regression. There was asignificant interaction between aversion and reassurance, such that aversion was inverselyrelated to genetic testing intentions when there are low perceived psychological reassurance.ConclusionsOur results suggest that genetic counseling around FH genetic testing should includediscussion about the perceived psychological reassurances from genetic testing. This isimportant given that when perceived reassurances are low, those averse to learning geneticinformation would decline testing. Though it is always an option to decline testing, thesedecisions to decline would be worrisome if they are not informed decisions.