[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 …
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
Purpose Clinical sequencing emerging in health care may result in secondary findings
(SFs). Methods Seventy-four of 6240 (1.2%) participants who underwent genome or exome …
(SFs). Methods Seventy-four of 6240 (1.2%) participants who underwent genome or exome …
Frequency and management of medically actionable incidental findings from genome and exome sequencing data: a systematic review
A Elfatih, I Mohammed… - Physiological …, 2021 - journals.physiology.org
The application of whole genome/exome sequencing technologies in clinical genetics and
research has resulted in the discovery of incidental findings unrelated to the primary …
research has resulted in the discovery of incidental findings unrelated to the primary …
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
FM De La Vega, S Chowdhury, B Moore, E Frise… - Genome Medicine, 2021 - Springer
Background Clinical interpretation of genetic variants in the context of the patient's
phenotype is becoming the largest component of cost and time expenditure for genome …
phenotype is becoming the largest component of cost and time expenditure for genome …
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: translational research genomic data …
A Capalbo, RA Valero, J Jimenez-Almazan… - PLoS …, 2019 - journals.plos.org
Limited translational genomic research data have been reported on the application of
exome sequencing and parallel gene testing for preconception carrier screening (PCS) …
exome sequencing and parallel gene testing for preconception carrier screening (PCS) …
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals
V Van der Schoot, L Haer-Wigman, I Feenstra… - European journal of …, 2022 - nature.com
Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease
unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical …
unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical …
1 in 38 individuals at risk of a dominant medically actionable disease
L Haer-Wigman, V van der Schoot, I Feenstra… - European Journal of …, 2019 - nature.com
Clinical genomic sequencing can identify pathogenic variants unrelated to the initial clinical
question, but of medical relevance to the patients and their families. With ongoing …
question, but of medical relevance to the patients and their families. With ongoing …
The therapeutic odyssey: positioning genomic sequencing in the search for a child's best possible life
JE Childerhose, C Rich, KM East, WV Kelley… - AJOB empirical …, 2021 - Taylor & Francis
Background: The desire of parents to obtain a genetic diagnosis for their child with
intellectual disability and associated symptoms has long been framed as a diagnostic …
intellectual disability and associated symptoms has long been framed as a diagnostic …
Family history assessment significantly enhances delivery of precision medicine in the genomics era
Background Family history has traditionally been an essential part of clinical care to assess
health risks. However, declining sequencing costs have precipitated a shift towards …
health risks. However, declining sequencing costs have precipitated a shift towards …
Systematic review of the uptake and outcomes from returning secondary findings to adult participants in research genomic testing
LA Mitchell, K Jivani, MA Young… - Journal of Genetic …, 2024 - Wiley Online Library
The increasing use of genomic sequencing in research means secondary findings (SF) is
more frequently detected and becoming a more pressing issue for researchers. This is …
more frequently detected and becoming a more pressing issue for researchers. This is …