Barriers and facilitators for cascade testing in genetic conditions: a systematic review

S Srinivasan, NY Won, WD Dotson, ST Wright… - European Journal of …, 2020 - nature.com
Cascade testing is the process of offering genetic counseling and testing to at-risk relatives
of an individual who has been diagnosed with a genetic condition. It is critical for increasing …

Use of a chatbot to increase uptake of cascade genetic testing

T Schmidlen, CL Jones… - Journal of genetic …, 2022 - Wiley Online Library
Successful proband‐mediated family communication and subsequent cascade genetic
testing uptake requires interventions that present information clearly, in sufficient detail, and …

How can we reach at-risk relatives? Efforts to enhance communication and cascade testing uptake: a mini-review

R Schwiter, AK Rahm, JL Williams… - Current genetic medicine …, 2018 - Springer
Abstract Purpose of Review Cascade testing, or screening, is the process of stepwise,
systematic genetic testing of at-risk relatives for a genetic variant originally identified in a …

Patients' perceptions and experiences of familial hypercholesterolemia, cascade genetic screening and treatment

SJ Hardcastle, E Legge, CS Laundy, SJ Egan… - International journal of …, 2015 - Springer
Background Familial hypercholesterolemia (FH) is a serious genetic disorder affecting
approximately 1 in every 300 to 500 individuals and is characterised by excessively high low …

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

E Ormondroyd, S Oates, M Parker, E Blair… - European Journal of …, 2014 - nature.com
Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at any age, yet are
often asymptomatic and clinically undetected. Prophylactic interventions are available and …

[HTML][HTML] A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia

E Ajufo, EM DeGoma, A Raper, KD Yu, M Cuchel… - Genetics in …, 2021 - Elsevier
Purpose Family-based cascade screening from index probands is considered an effective
way of identifying undiagnosed individuals with familial hypercholesterolemia (FH). The role …

Cardiovascular cascade genetic testing: exploring the role of direct contact and technology

AC Sturm - Frontiers in cardiovascular medicine, 2016 - frontiersin.org
There is much attention and excitement in the current health care environment on the
potential of precision medicine based on a patient's genomic data. Today, what arguably …

Risk communication in families of children with familial hypercholesterolemia: identifying motivators and barriers to cascade screening to improve diagnosis at a single …

E Wurtmann, J Steinberger, PMC Veach… - Journal of Genetic …, 2019 - Wiley Online Library
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 …

A focus group study of perceptions of genetic risk disclosure in members of the public in Sweden:“I'll phone the five closest ones, but what happens to the other ten?”

C Hawranek, S Hajdarevic, A Rosén - Journal of Personalized Medicine, 2021 - mdpi.com
This study explores perceptions and preferences on receiving genetic risk information about
hereditary cancer risk in members of the Swedish public. We conducted qualitative content …

A novel approach to screening for familial hypercholesterolemia in a large public venue

M Campbell, J Humanki, H Zierhut - Journal of community genetics, 2017 - Springer
The primary aim of this study was to test the feasibility of a public health screening program
to identify individuals at high risk of familial hypercholesterolemia through a novel screening …