The emerging field of polygenic risk scores and perspective for use in clinical care

T Yanes, AM McInerney-Leo, MH Law… - Human molecular …, 2020 - academic.oup.com
Genetic testing is used widely for diagnostic, carrier and predictive testing in monogenic
diseases. Until recently, there were no genetic testing options available for multifactorial …

Family adjustment to hereditary cancer syndromes: a systematic review

P Gomes, G Pietrabissa, ER Silva, J Silva… - International Journal of …, 2022 - mdpi.com
Hereditary cancer syndromes are inherited pathogenic genetic variants that significantly
increase the risk of developing cancer. When individuals become aware of their increased …

Mapping relevance of digital measures to meaningful symptoms and impacts in early Parkinson's disease

JR Mammen, RM Speck, GM Stebbins… - Journal of …, 2023 - content.iospress.com
Background: Adoption of new digital measures for clinical trials and practice has been
hindered by lack of actionable qualitative data demonstrating relevance of these metrics to …

[HTML][HTML] Patient experience of uncertainty in cancer genomics: a systematic review

N Bartley, C Napier, M Best, P Butow - Genetics in Medicine, 2020 - Elsevier
While genomics provides new clinical opportunities, its complexity generates uncertainties.
This systematic review aimed to summarize what is currently known about the experience of …

[HTML][HTML] Models of communication for polygenic scores and associated psychosocial and behavioral effects on recipients: a systematic review

CK Wallingford, H Kovilpillai, C Jacobs, E Turbitt… - Genetics in …, 2023 - Elsevier
Purpose This study aimed to systematically review current models for communicating
polygenic scores (PGS) and psycho-behavioral outcomes of receiving PGSs. Methods …

Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross‐sectional survey of health professionals

AK Smit, AR Sharman, D Espinoza… - Clinical …, 2021 - Wiley Online Library
Polygenic risk scores (PRS) are becoming increasingly available in clinical practice to
evaluate cancer risk. However, little is known about health professionals' knowledge …

[HTML][HTML] Genetic counseling and testing for Asian Americans: a systematic review

JL Young, J Mak, T Stanley, M Bass, MK Cho… - Genetics in …, 2021 - Elsevier
Abstract Purpose Asian Americans have been understudied in the literature on genetic and
genomic services. The current study systematically identified, evaluated, and summarized …

PARENTS'AND PATIENTS'PERSPECTIVES, EXPERIENCES, AND PREFERENCES FOR GERMLINE GENETIC OR GENOMIC TESTING OF CHILDREN WITH …

JD Hunter, K Hetherington, E Courtney… - Genetics in …, 2024 - Elsevier
Purpose Germline testing in pediatric cancer presents opportunities and challenges.
Understanding family perspectives, experiences, and preferences will optimize integration …

Patient perspectives on molecular tumor profiling: “Why wouldn't you?”

MC Best, N Bartley, C Jacobs, I Juraskova, D Goldstein… - BMC cancer, 2019 - Springer
Aim This study explored the attitudes of patients with advanced cancer towards MTP and
return of results, prior to undergoing genomic testing within a research program. Methods …

Human genetics society of Australasia position statement: use of polygenic scores in clinical practice and population health

MA Young, T Yanes, AE Cust, K Dunlop… - Twin Research and …, 2023 - cambridge.org
Considerable progress continues to be made with regards to the value and use of disease
associated polygenic scores (PGS). PGS aim to capture a person's genetic liability to a …