Return of individual research results from genomic research: A systematic review of stakeholder perspectives
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
option to receive secondary findings (SF). However, little is known about the views of …