Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy

Verfasser / Beitragende:
[Amirah Khouzam, Andrea Kwan, Samantha Baxter, Jonathan Bernstein]
Ort, Verlag, Jahr:
2015
Enthalten in:
Journal of Genetic Counseling, 24/5(2015-10-01), 797-809
Format:
Artikel (online)
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024 7 0 |a 10.1007/s10897-014-9810-8  |2 doi 
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245 0 0 |a Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy  |h [Elektronische Daten]  |c [Amirah Khouzam, Andrea Kwan, Samantha Baxter, Jonathan Bernstein] 
520 3 |a Hypertrophic cardiomyopathy (HCM) is a common cardiovascular disorder with variable expressivity and incomplete penetrance. Clinical guidelines recommend consultation with a genetics professional as part of an initial assessment for HCM, yet there remains an underutilization of genetics services. We conducted a study to assess factors associated with this underutilization within the framework of the Health Belief Model (HBM). An online survey was completed by 306 affected individuals and at risk family members. Thirty-seven percent of individuals (113/306) had visited a genetics professional for reasons related to HCM. Genetic testing was performed on 53% (162/306). Individuals who had undergone testing were more likely to have seen a genetics professional (p < 0.001), had relatives with an HCM diagnosis (p = 0.002), and have a known familial mutation (p < 0.001). They were also more likely to agree that genetic testing would satisfy their curiosity (p < 0.001), provide reassurance (p < 0.001), aid family members in making healthcare decisions (p < 0.001), and encourage them to engage in a healthier lifestyle (p = 0.002). The HBM components of cues to action and perceived benefits and barriers had the greatest impact on uptake of genetic testing. In order to ensure optimal counseling and care for individuals and families with HCM, awareness and education around HCM and genetic services should be promoted in both physicians and patients alike. 
540 |a National Society of Genetic Counselors, Inc., 2015 
690 7 |a Hypertrophic cardiomyopathy (HCM)  |2 nationallicence 
690 7 |a Genetic testing  |2 nationallicence 
690 7 |a Genetic services  |2 nationallicence 
690 7 |a Utilization  |2 nationallicence 
690 7 |a Health Belief Model  |2 nationallicence 
700 1 |a Khouzam  |D Amirah  |u Department of Genetics, Stanford University, Stanford, CA, USA  |4 aut 
700 1 |a Kwan  |D Andrea  |u Department of Genetics, Stanford University, Stanford, CA, USA  |4 aut 
700 1 |a Baxter  |D Samantha  |u Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine, Cambridge, MA, USA  |4 aut 
700 1 |a Bernstein  |D Jonathan  |u Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Dr. H-315, 94305, Stanford, CA, USA  |4 aut 
773 0 |t Journal of Genetic Counseling  |d Springer US; http://www.springer-ny.com  |g 24/5(2015-10-01), 797-809  |x 1059-7700  |q 24:5<797  |1 2015  |2 24  |o 10897 
856 4 0 |u https://doi.org/10.1007/s10897-014-9810-8  |q text/html  |z Onlinezugriff via DOI 
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900 7 |a Metadata rights reserved  |b Springer special CC-BY-NC licence  |2 nationallicence 
908 |D 1  |a research-article  |2 jats 
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950 |B NATIONALLICENCE  |P 700  |E 1-  |a Khouzam  |D Amirah  |u Department of Genetics, Stanford University, Stanford, CA, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Kwan  |D Andrea  |u Department of Genetics, Stanford University, Stanford, CA, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Baxter  |D Samantha  |u Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine, Cambridge, MA, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Bernstein  |D Jonathan  |u Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Dr. H-315, 94305, Stanford, CA, USA  |4 aut 
950 |B NATIONALLICENCE  |P 773  |E 0-  |t Journal of Genetic Counseling  |d Springer US; http://www.springer-ny.com  |g 24/5(2015-10-01), 797-809  |x 1059-7700  |q 24:5<797  |1 2015  |2 24  |o 10897