Predictors of Family Enrollment in a Genetic Cascade Screening Program for Familial Hypercholesterolemia

Abstract

BackgroundGenetic cascade screening is the most cost-effective method for the identification of individuals with familial hypercholesterolemia (FH), but the best strategies for the enrollment of at-risk individuals in a FH screening program are not fully known.ObjectiveThe aim of this study is to identify the best predictors of familial enrollment into genetic screening, using features derived from tested probands.MethodsOne hundred and eighty-three index-cases (ICs) with a positive genetic result that had relatives screened from 01/2011 to 07/2015 were included. The response variable was the number of relatives for each enrolled IC. All variables in the study were based on ICs’ derived clinical and socioeconomical features. The effect size of predictor variables were obtained through a general linear model using a negative binomial regression link function. Significance was considered with a p < 0.05.ResultsMean IC age when enrolling into the program was 50 years old; 78.1% of individuals reported knowledge of relatives with dyslipidemia. Mean baseline LDL-cholesterol level was 316 ± 90 mg/dL. Referral origin through the cascade program website vs. tertiary care, IC LDL-cholesterol and familial history of high LDL-cholesterol levels were independent predictors associated with a higher number of enrolled relatives.ConclusionsOur data suggest that FH cascade screening programs can predict family enrollment based on IC features. This information may be useful for devising better and more effective screening approaches for at-risk individuals.

Triagem Direcionada da Hipercolesterolemia Familiar em 11 Pequenas Cidades Brasileiras: Uma Abordagem Eficaz para Detectar Agrupamentos de Indivíduos Afetados

“…In a previous publication, the authors reported that their FH cascade screening program could predict family enrollment based on IC features, useful information for devising better and more effective screening approaches for at-risk individuals. 10 However, there is an important gap in risk perception, cholesterol management, and other aspects related to FH. 11 The strategy of target screening in small cities can be effective, but some issues must be taken into account before choosing the city to screen.…”

Identificación de variantes genéticas asociadas a hipercolesterolemia familiar en niños y adolescentes de la Región del Biobío, Chile

“…Todas las muestras se analizaron mediante MLPA (Multiple Ligation-depend Probe Amplification) (MRC-Holland) para determinar la variación del número de copias 15 . La interpretación y clasificación de las variantes se estudiaron siguiendo las recomendaciones del consenso de la Asociación de Patología Molecular y del Colegio Médico Americano de Genética y Genoma (ACMG).…”

Predictors of Family Recruitment in a Program of Genetic Cascade Screening for Familial Hypercholesterolemia

“…Silva-Souza, et al, 12 in the article entitled Predictors of Family Recruitment in a Program of Genetic Cascade Screening for Familial Hypercholesterolemia identified the best predictors of genetic family screening, using characteristics derived from their probands. 12 From January 2011 to July 2015, 183 probands (confirmed for FH by genetic testing) had their 1 st degree family members recruited for the cascade program. The response variable was the number of relatives that adhered to the recruitment.…”