The emerging field of polygenic risk scores and perspective for use in clinical care

T Yanes, AM McInerney-Leo, MH Law… - Human molecular …, 2020 - academic.oup.com
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 …

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 …

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 …

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) …

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 …

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 …

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 …

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 …

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) …

A social and ethical framework for providing health information obtained from combining genetics and fitness tracking data

K Esmonde, S Roth, A Walker - Technology in Society, 2023 - Elsevier
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 …