The human periconceptional maternal-embryonic space in health and disease

I Moreno, A Capalbo, A Mas… - Physiological …, 2023 - journals.physiology.org
Pregnancy is established during the periconceptional period as a continuum beginning with
blastocyst attachment to the endometrial epithelial surface followed by embryo invasion and …

Economic evaluations of predictive genetic testing: A scoping review

Q Xi, S Jin, S Morris - PLoS One, 2023 - journals.plos.org
Predictive genetic testing can provide information about whether or not someone will
develop or is likely to develop a specific condition at a later stage in life. Economic …

Population genetic screening efficiently identifies carriers of autosomal dominant diseases

JJ Grzymski, G Elhanan, JA Morales Rosado, E Smith… - Nature medicine, 2020 - nature.com
Three inherited autosomal dominant conditions—BRCA-related hereditary breast and
ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH) …

[HTML][HTML] Clinical outcomes of a genomic screening program for actionable genetic conditions

AH Buchanan, HL Kirchner, MLB Schwartz, MA Kelly… - Genetics in …, 2020 - Elsevier
Purpose Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch
syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that …

The future of IVF: the new normal in human reproduction

VA Kushnir, GD Smith, EY Adashi - Reproductive Sciences, 2022 - Springer
Increased demand for in vitro fertilization (IVF) due to socio-demographic trends, and supply
facilitated by new technologies, converged to transform the way a substantial proportion of …

Population genomic screening for three common hereditary conditions: a cost-effectiveness analysis

GF Guzauskas, S Garbett, Z Zhou… - Annals of Internal …, 2023 - acpjournals.org
Background: The cost-effectiveness of screening the US population for Centers for Disease
Control and Prevention (CDC) Tier 1 genomic conditions is unknown. Objective: To estimate …

Association of rare pathogenic DNA variants for familial hypercholesterolemia, hereditary breast and ovarian cancer syndrome, and lynch syndrome with disease risk …

AP Patel, M Wang, AC Fahed… - JAMA network …, 2020 - jamanetwork.com
Importance Pathogenic DNA variants associated with familial hypercholesterolemia,
hereditary breast and ovarian cancer syndrome, and Lynch syndrome are widely recognized …

Cost-effectiveness of population-wide genomic screening for hereditary breast and ovarian cancer in the United States

GF Guzauskas, S Garbett, Z Zhou, SJ Spencer… - JAMA network …, 2020 - jamanetwork.com
Importance Genomic screening for hereditary breast and ovarian cancer (HBOC) in
unselected women offers an opportunity to prevent cancer morbidity and mortality, but the …

[HTML][HTML] Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

CLB Zawatsky, N Shah, K Machini, E Perez… - The American Journal of …, 2021 - cell.com
Over 100 million research participants around the world have had research array-based
genotyping (GT) or genome sequencing (GS), but only a small fraction of these have been …

Population genomic screening of young adults for familial hypercholesterolaemia: a cost-effectiveness analysis

C Marquina, P Lacaze, J Tiller, M Riaz… - European Heart …, 2022 - academic.oup.com
Aims The aim of this study was to assess the impact and cost-effectiveness of offering
population genomic screening to all young adults in Australia to detect heterozygous familial …