Melanie Allison1. 1. Melanie Allison, MSN, RN, ACNP-BC DNP Student, School of Nursing, Johns Hopkins University, Baltimore, Maryland; Instructor, School of Nursing, Vanderbilt University, Nashville, Tennessee.
Abstract
BACKGROUND: Familial hypercholesterolemia (FH) is the most common inherited, potentially deadly disease, affecting an estimated 600 000 people in the United States. When FH is undiagnosed and untreated, it is linked with early coronary heart disease in more than 50% of men by age 50 years and 30% of women by age 60 years. Cascade screening is the most cost effective method available to identify family members with this disease; however, cascade screening guidelines do not specify best methods to use when contacting relatives. Therefore, I conducted an exhaustive search of the literature to find the most successful communication methods used in contact tracing and cascade screening. PURPOSE: The purpose of this summary of the evidence was to identify the communication method with greatest impact in having at-risk populations present to a provider for disease screening. These findings will inform clinicians of the most successful methods to implement when cascade screening relatives of known FH patients. CONCLUSIONS: Most studies support direct contact of relatives via letter, mailed from the provider. Provider-initiated communication more often resulted in relatives being tested when compared with other methods of communication. CLINICAL IMPLICATIONS: On the basis of the literature, family members of current FH patients will be more likely to present to a provider for cascade screening if they receive written communication from the provider.
BACKGROUND:Familial hypercholesterolemia (FH) is the most common inherited, potentially deadly disease, affecting an estimated 600 000 people in the United States. When FH is undiagnosed and untreated, it is linked with early coronary heart disease in more than 50% of men by age 50 years and 30% of women by age 60 years. Cascade screening is the most cost effective method available to identify family members with this disease; however, cascade screening guidelines do not specify best methods to use when contacting relatives. Therefore, I conducted an exhaustive search of the literature to find the most successful communication methods used in contact tracing and cascade screening. PURPOSE: The purpose of this summary of the evidence was to identify the communication method with greatest impact in having at-risk populations present to a provider for disease screening. These findings will inform clinicians of the most successful methods to implement when cascade screening relatives of known FHpatients. CONCLUSIONS: Most studies support direct contact of relatives via letter, mailed from the provider. Provider-initiated communication more often resulted in relatives being tested when compared with other methods of communication. CLINICAL IMPLICATIONS: On the basis of the literature, family members of current FHpatients will be more likely to present to a provider for cascade screening if they receive written communication from the provider.
Authors: Julia Wynn; Hila Milo Rasouly; Tania Vasquez-Loarte; Akilan M Saami; Robyn Weiss; Sonja I Ziniel; Paul S Appelbaum; Ellen Wright Clayton; Kurt D Christensen; David Fasel; Robert C Green; Heather S Hain; Margaret Harr; Christin Hoell; Iftikhar J Kullo; Kathleen A Leppig; Melanie F Myers; Joel E Pacyna; Emma F Perez; Cynthia A Prows; Alanna Kulchak Rahm; Gemme Campbell-Salome; Richard R Sharp; Maureen E Smith; Georgia L Wiesner; Janet L Williams; Carrie L Blout Zawatsky; Ali G Gharavi; Wendy K Chung; Ingrid A Holm Journal: J Genet Couns Date: 2021-10-19 Impact factor: 2.717
Authors: Laney K Jones; Nicole Walters; Andrew Brangan; Catherine D Ahmed; Michael Gatusky; Gemme Campbell-Salome; Ilene G Ladd; Amanda Sheldon; Samuel S Gidding; Mary P McGowan; Alanna K Rahm; Amy C Sturm Journal: J Pers Med Date: 2021-06-21