Return of individual research results from genomic research: A systematic review of stakeholder perspectives

DF Vears, JT Minion, SJ Roberts, J Cummings… - PloS one, 2021 - journals.plos.org
Despite the plethora of empirical studies conducted to date, debate continues about whether
and to what extent results should be returned to participants of genomic research. We aimed …

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical …

DT Miller, K Lee, AS Gordon, LM Amendola… - Genetics in …, 2021 - nature.com
Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …

Opportunistic genomic screening. Recommendations of the European society of human genetics

G de Wert, W Dondorp, A Clarke… - European Journal of …, 2021 - nature.com
If genome sequencing is performed in health care, in theory the opportunity arises to take a
further look at the data: opportunistic genomic screening (OGS). The European Society of …

[HTML][HTML] A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings

JC Sapp, FM Facio, D Cooper, KL Lewis, E Modlin… - Genetics in …, 2021 - Elsevier
ABSTRACT Purpose Secondary findings (SFs) are present in 1–4% of individuals
undergoing genome/exome sequencing. A review of how SFs are disclosed and what …

Pilot study of return of genetic results to patients in adult nephrology

JG Nestor, M Marasa, H Milo-Rasouly… - Clinical Journal of the …, 2020 - journals.lww.com
Results Using this workflow, we attempted to recontact a diverse pilot cohort of 104
nephrology research participants with actionable genetic findings, encompassing 34 …

The long‐term impact of receiving incidental findings on parents undergoing genome‐wide sequencing

F Cheung, P Birch, JM Friedman… - Journal of Genetic …, 2022 - Wiley Online Library
Genome‐wide (exome or genome) sequencing (GWS) has the potential to detect incidental
findings (IFs): variants unrelated to the primary indication for testing that may be of medical …

Clinical utility of next-generation sequencing-based panel testing under the universal health-care system in Japan: a retrospective analysis at a single university …

C Inagaki, D Maeda, K Hatake, Y Sato, K Hashimoto… - Cancers, 2021 - mdpi.com
Simple Summary Next-generation sequencing (NGS)-based assay is widely used in clinical
practice due to its reimbursement by Japan's universal health-care system for cancer …

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

A Chassagne, A Pélissier, F Houdayer… - European Journal of …, 2019 - nature.com
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics,
particularly for developmental diseases. The variety and complexity of the information …

Evaluation of a two-step model of opportunistic genomic screening

M Martyn, L Lee, A Jan, E Lynch… - European Journal of …, 2024 - nature.com
Increasing use of diagnostic genomic sequencing is pushing health services to confront the
issue of opportunistic genomic screening (OGS). To date, OGS has been offered …

Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach

S Rego, H Hoban, S Outram, AN Zamora, F Chen… - Genetics in …, 2022 - Elsevier
Purpose Patients undergoing clinical exome sequencing (ES) are routinely offered the
option to receive secondary findings (SF). However, little is known about the views of …