The emerging field of polygenic risk scores and perspective for use in clinical care
Genetic testing is used widely for diagnostic, carrier and predictive testing in monogenic
diseases. Until recently, there were no genetic testing options available for multifactorial …
diseases. Until recently, there were no genetic testing options available for multifactorial …
Polygenic risk scores in the clinic: new perspectives needed on familiar ethical issues
ACF Lewis, RC Green - Genome Medicine, 2021 - Springer
Clinical use of polygenic risk scores (PRS) will look very different to the more familiar
monogenic testing. Here we argue that despite these differences, most of the ethical, legal …
monogenic testing. Here we argue that despite these differences, most of the ethical, legal …
Population screening for inherited predisposition to breast and ovarian cancer
R Manchanda, S Lieberman, F Gaba… - Annual review of …, 2020 - annualreviews.org
The discovery of genes underlying inherited predisposition to breast and ovarian cancer has
revolutionized the ability to identify women at high risk for these diseases before they …
revolutionized the ability to identify women at high risk for these diseases before they …
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) …
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
MH Guo, AR Gregg - Genetics in Medicine, 2019 - nature.com
Purpose Prenatal genetic carrier screening can identify parents at risk of having a child
affected by a recessive condition. However, the conditions/genes most appropriate for …
affected by a recessive condition. However, the conditions/genes most appropriate for …
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?
L Peck, K Borle, L Folkersen, J Austin - European Journal of Human …, 2022 - nature.com
We sought to explore individuals' motivations for using their direct-to-consumer genetic
testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool …
testing data to generate polygenic risk scores (PRSs) using a not-for-profit third-party tool …
Views of primary care providers on testing patients for genetic risks for common chronic diseases
D Hauser, AO Obeng, K Fei, MA Ramos… - Health Affairs, 2018 - healthaffairs.org
We surveyed 488 primary care providers in community and academic practices in New York
City in the period 2014–16 about their views on genetic testing for chronic diseases. The …
City in the period 2014–16 about their views on genetic testing for chronic diseases. The …
Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?
T Moscarello, B Murray, CM Reuter, E Demo - Genetics in Medicine, 2019 - nature.com
The latest response to consumers' increased demand for accessible genetic health
information is the US Food and Drug Administration (FDA)'s recent approval of 23andMe's …
information is the US Food and Drug Administration (FDA)'s recent approval of 23andMe's …
The dawn of consumer‐directed testing
E Ramos, SM Weissman - … Journal of Medical Genetics Part C …, 2018 - Wiley Online Library
As the public's interest in genetics and genomics has increased, there has been
corresponding and unprecedented growth in direct‐to‐consumer genetic testing (DTC‐GT) …
corresponding and unprecedented growth in direct‐to‐consumer genetic testing (DTC‐GT) …
A social and ethical framework for providing health information obtained from combining genetics and fitness tracking data
In this paper we explore a new technological intersection in the “big data revolution”: the
integration of two forms of data, genetic data and fitness tracking data. For example, a small …
integration of two forms of data, genetic data and fitness tracking data. For example, a small …