Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH™ patient registry

Amrock, Stephen M.; Duell, P. Barton; Knickelbine, Thomas; Martin, Seth S.; O’Brien, Emily C.; Watson, Karol E.; Mitri, Joanna; Kindt, Iris; Shrader, Peter; Baum, Sharon; Hemphill, Linda; Ahmed, Catherine D.; Andersen, Rolf; Kullo, Iftikhar J.; McCann, Dervilla; Larry, John; Murray, Michael F.; Fishberg, Robert; Guyton, John R.; Wilemon, Katherine; Roe, Matthew T.; Rader, Daniel J.; Ballantyne, Christie M.; Underberg, James; Thompson, Paul D.; Duffy, Dannielle; Linton, MacRae F.; Shapiro, Michael D.; Moriarty, Patrick M.; Knowles, Joshua; Ahmad, Zahid

doi:10.1016/j.atherosclerosis.2017.10.006

Cited by 72 publications

(66 citation statements)

References 44 publications

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“…To address this research need, in the present study, we evaluated factors influencing family notification of FH risk in a large pediatric lipid clinic in the USA (n = 127). Our sample and the results of this research represent a considerable percentage of the reported cases in the US when compared with the national CascadeFH™ registry which has ~ 350 total pediatric cases (Amrock et al 2017).…”

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confidence: 88%

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Wurtmann

Steinberger

Veach

et al. 2018

Journal of Genetic Counseling

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Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic. Participants were also asked if family notification was impacted by intrapersonal, interpersonal, institutional, community, and public policy factors identified previously in other populations. Notification of at least one of the proband's living grandparents or aunts/uncles was reported by 76% (n = 25/33) and 71% (n = 24/34) of participants, respectively. The most common reason for notification was to protect relatives from heart disease. Two of the most common reasons participants did not notify relatives were a lack of information about FH and concern that the relative would have difficulty understanding the information. Yet, only a minority of participants (39%) accessed institutional resources such as educational materials to share with relatives or assistance drafting a family letter that could address these barriers. Based on the identified barriers and motivators for family communication, we suggest facilitators to improve implementation of cascade screening.

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mentioning

confidence: 88%

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Wurtmann

Steinberger

Veach

et al. 2018

Journal of Genetic Counseling

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“…2019; 29 unaware that they carry genetic mutations. These rates are even lower among medically underserved populations [8][9][10][11] that historically have inadequate access to, or reduced utilization of, highquality health care. 12 These populations include racial/ethnic minority populations, socioeconomically disadvantaged populations, underserved rural populations, and sexual and gender minorities.…”

Section: Leveraging Implementation Science To Address Health Disparitmentioning

confidence: 99%

Leveraging Implementation Science to Address Health Disparities in Genomic Medicine: Examples from the Field

2019

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The integration of genomic data into screening, prevention, diagnosis, and treatment for clinical and public health practices has been slow and challenging. Implementation science can be applied in tackling the barriers and challenges as well as exploring opportunities and best practices for integrating genomic data into routine clinical and public health practice. In this article, we define the state of disparities in genomic medicine and focus predominantly on late-stage research findings. We use case studies from genetic testing for cardiovascular diseases (familial hypercholesterolemia) and cancer (Lynch syndrome and hereditary breast and ovarian cancer syndrome) in high-risk populations to consider current disparities and related barriers in turning genomic advances into population health impact to advance health equity. Finally, we address how implementation science can address these translational barriers and we discuss the strategic importance of collaborative multi-stakeholder approaches that engage public health agencies, professional societies, academic health and research centers, community clinics, and patients and their families to work collectively to improve population health and reduce or eliminate health inequities.Ethn Dis. 2019;29(Suppl 1):187-192; doi:10.18865/ed.29.S1.187.

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“…Several nationwide FH patient registries now exist, enabling the collection of comprehensive and complete longitudinal clinical data to be collected, analysed and reported. For example, registries have been used to identify diagnosis and treatment gaps and refine risk prediction in patients with FH . However, as many have been established only within the last decade, significant potential exists for important translational research questions to be answered at a national and international level.…”

Section: Contemporary Challengesmentioning

confidence: 99%

“…For example, registries have been used to identify diagnosis and treatment gaps and refine risk prediction in patients with FH. 53,80,[94][95][96][97][98] However, as many have been established only within the last decade, significant potential exists for important translational research questions to be answered at a national and international level.…”

Section: Lysosomal Acid Lipase Deficiencymentioning

confidence: 99%

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

2019

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Familial hypercholesterolaemia (FH) is caused by pathogenic variants in LDLR, APOB or PCSK9. Impaired low‐density lipoprotein (LDL) receptor function leads to decreased LDL catabolism and premature atherosclerotic cardiovascular disease (ASCVD). Thousands of LDLR variants are known, but assignation of pathogenicity requires accurate phenotyping, family studies and assessment of LDL receptor function. Precise, genetic diagnosis of FH using targeted next generation sequencing allows for optimal treatment, distinguishing FH from pathogenically distinct disorders requiring different treatment. Polygenic hypercholesterolaemia resulting from an accumulation of LDL cholesterol‐raising single nucleotide polymorphisms (SNPs) could also be suspected by this approach. Similarly, ASCVD risk could be estimated by broader sequencing of cholesterol and non‐cholesterol‐related genes. Both of these areas require further research. The clinical management of FH, focusing on the primary or secondary prevention of ASCVD, has been boosted by PCSK9 inhibitor therapy. The efficacy of PCSK9 inhibitors in homozygous FH may be partly predicted by the LDLR variants. While expanded genetic testing in FH is clinically useful in providing an accurate diagnosis and enabling cost‐effective testing of relatives, further research is needed to establish its value in improving clinical outcomes.

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Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH™ patient registry

Cited by 72 publications

References 44 publications

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Leveraging Implementation Science to Address Health Disparities in Genomic Medicine: Examples from the Field

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

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