[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 …

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

MR Hart, BB Biesecker, CL Blout, KD Christensen… - Genetics in …, 2019 - nature.com
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 …

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 …

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 …

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) …

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 …

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 …

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 …

Family history assessment significantly enhances delivery of precision medicine in the genomics era

Y Bylstra, WK Lim, S Kam, KW Tham, RR Wu, JX Teo… - Genome medicine, 2021 - Springer
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 …

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 …