Genetic knowledge and attitudes of parents of children with congenital heart defects

Fitzgerald-Butt, Sara; Klima, Jennifer; Kelleher, Kelly J.; Chisolm, Deena; McBride, Kim L.

doi:10.1002/ajmg.a.36763

Cited by 18 publications

(18 citation statements)

References 33 publications

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“…We previously updated a 16‐item true/false genetic knowledge measure for readability and current understanding of genetics, while omitting redundant items and adding items to reflect current genetic concepts (Table ). This measure was scored by awarding one point for each item answered correctly while zero points were awarded for incorrect and unsure responses.…”

Section: Methodsmentioning

confidence: 99%

Measuring genetic knowledge: a brief survey instrument for adolescents and adults

et al. 2015

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Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge measure. The 18-item measure was completed by parents of children with congenital heart defects (CHD) (n=465) and adolescents and young adults with CHD (ages 15-25, n=196) with a mean total correct score of 12.6 (SD=3.5, range 0-18). Utilizing exploratory factor analysis, we determined that one to three correlated factors, or abilities, were captured by our measure. Through confirmatory factor analysis, we determined that the two factor model was the best fit. Although it was necessary to remove two items, the remaining items exhibited adequate psychometric properties in a multidimensional item response theory analysis. Scores for each factor were computed, and a sum-score conversion table was derived. We conclude that this genetic knowledge measure discriminates best at low knowledge levels and is therefore well suited to determine a minimum adequate amount of genetic knowledge. However, further reliability testing and validation in diverse research and clinical settings is needed.

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Section: Methodsmentioning

confidence: 99%

Measuring genetic knowledge: a brief survey instrument for adolescents and adults

et al. 2015

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“…Despite this lack of functional knowledge, previously studied individuals endorse the idea that common complex diseases are caused by multiple variables including genes, behavior, and the environment but the amount of perceived influence of each of these variables changes with the disease or trait in question (Calsbeek et al 2007;Fitzgerald-Butt et al 2014;Human Genetics 2001;Molster et al 2009). To further explore genetic knowledge among a large cohort (n=4 062) including healthy individuals, individuals with chronic disease (cancer, heart disease) and health care providers, we analyzed data gathered from participants of the Coriell Personalized Medicine Collaborative (CPMC) research study to quantify genetic knowledge and assess predictors of such knowledge.…”

Section: Introductionmentioning

confidence: 99%

Genetic Knowledge Among Participants in the Coriell Personalized Medicine Collaborative

Schmidlen

Scheinfeldt

Zhaoyang

et al. 2015

Journal of Genetic Counseling

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Genetic literacy is essential for the effective integration of genomic information into healthcare; yet few recent studies have been conducted to assess the current state of this knowledge base. Participants in the Coriell Personalized Medicine Collaborative (CPMC), a prospective study assessing the impact of personalized genetic risk reports for complex diseases and drug response on behavior and health outcomes, completed genetic knowledge questionnaires and other surveys through an online portal. To assess the association between genetic knowledge and genetic education background, multivariate linear regression was performed. 4 062 participants completed a genetic knowledge and genetic education background questionnaire. Most were older (mean age: 50), Caucasian (90%), female (59%), highly educated (69% bachelor’s or higher), with annual household income over $100 000 (49%). Mean percent correct was 76%. Controlling for demographics revealed that health care providers, participants previously exposed to genetics, and participants with ‘better than most’ self-rated knowledge were significantly more likely to have a higher knowledge score (p<0.001). Overall, genetic knowledge was high with previous genetic education experience predictive of higher genetic knowledge score. Education is likely to improve genetic literacy, an important component to expanded use of genomics in personalized medicine.

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“…It is possible that the genetic counseling provided for families of infants with additional congenital malformations focused less on the recommendations for familial cardiac screening and more on the possibility for a genetic syndrome that may include CHD as a feature, decreasing the overall uptake of familial cardiac screening among this particular group. Parental knowledge regarding the genetics and heritability of LVOTO malformations was measured with an average 74% correct response rate, which is identical to that reported in a prior study assessing parental knowledge of genetics among CHD families (Fitzgerald‐Butt, Klima, Kelleher, Chisolm, & McBride, ). We hypothesized that higher parental knowledge scores would be associated with increased uptake of familial cardiac screening.…”

Section: Discussionmentioning

confidence: 96%

Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center

Shikany

Parrott

James

et al. 2019

Journal of Genetic Counseling

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Left ventricular outflow tract obstruction (LVOTO) malformations exhibit higher heritability than other cardiac lesions and cardiac screening is encouraged for first‐degree relatives. This study sought to determine the uptake of familial cardiac screening in families with an infant with an LVOTO and assess parental knowledge regarding genetics and heritability of LVOTO. A chart review of the period 2010–2015 identified 69 families who received genetic counseling regarding a diagnosis of LVOTO in an infant. Surveys assessing familial cardiac screening and parental knowledge were completed by a parent in 24 families (completion rate of 35%). Forty percent (36/89) of all at‐risk first‐degree family members completed cardiac screening. The presence of additional congenital malformations in the affected infant was the only significant factor reducing the uptake of familial cardiac screening (p = 0.003). The reported uptake of screening for subsequent at‐risk pregnancies was 11/12 (92%) compared to 25/77 (32%) of living at‐risk relatives. Survey respondents answered seven knowledge questions with an average score of 5.2 and all correctly identified that LVOTO can run in families. Uptake of familial cardiac screening is occurring in less than half of at‐risk individuals, despite parents demonstrating basic knowledge and receiving genetic counseling. Follow‐up counseling in the outpatient setting to review familial screening recommendations should be considered to increase uptake and optimize outcomes.

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Genetic knowledge and attitudes of parents of children with congenital heart defects

Cited by 18 publications

References 33 publications

Measuring genetic knowledge: a brief survey instrument for adolescents and adults

Measuring genetic knowledge: a brief survey instrument for adolescents and adults

Genetic Knowledge Among Participants in the Coriell Personalized Medicine Collaborative

Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center

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