Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis

G Pfeffer, G Lee, CS Pontifex, RD Fanganiello, A Peck… - Genes, 2022 - mdpi.com
In this work, we review clinical features and genetic diagnosis of diseases caused by
mutations in the gene encoding valosin-containing protein (VCP/p97), the functionally …

Future implications of polygenic risk scores for life insurance underwriting

T Yanes, J Tiller, CM Haining, C Wallingford… - NPJ Genomic …, 2024 - nature.com
In life insurance underwriting, GD stems from the use of genetic risk information to deny
coverage, increase premiums, or place conditions on products such as disability, death …

Personalized risk assessment for prevention and early detection of breast cancer: integration and implementation (PERSPECTIVE I&I)

JD Brooks, H Nabi, IL Andrulis, AC Antoniou… - Journal of personalized …, 2021 - mdpi.com
Early detection of breast cancer through screening reduces breast cancer mortality. The
benefits of screening must also be considered within the context of potential harms (eg, false …

Genetic discrimination still casts a large shadow in 2022

Y Joly, G Dalpe - European Journal of Human Genetics, 2022 - nature.com
Genetic discrimination (GD) is not new. It is usually understood as a type of discrimination
based on genetic characteristics that is intended to infringe or has the effect of infringing on …

Toward a framework for assessing privacy risks in multi-omic research and databases

C Dupras, EM Bunnik - The American Journal of Bioethics, 2021 - Taylor & Francis
While the accumulation and increased circulation of genomic data have captured much
attention over the past decade, privacy risks raised by the diversification and integration of …

Пределы вмешательства уголовного права в сферу исследования генома человека

АГ Блинов, ММ Лапунин - Вестник Пермского университета …, 2020 - cyberleninka.ru
Введение: прорывные достижения современных ученых-генетиков открыли перед
человечеством широчайшие возможности в части улучшения качества и увеличения …

Genetic testing for unexplained perinatal disorders

T Hays, RJ Wapner - Current opinion in pediatrics, 2021 - journals.lww.com
Perinatal disorders of unknown cause, with nonspecific presentations, are often caused by
genetic diseases best diagnosed by ES or GS. Prompt diagnosis facilitates improved clinical …

Benefit-Sharing by Design: A Call to Action for Human Genomics Research

AM Mc Cartney, AH Scholz, M Groussin… - Annual Review of …, 2024 - annualreviews.org
The ethical standards for the responsible conduct of human research have come a long way;
however, concerns surrounding equity remain in human genetics and genomics research …

Anti-selection & genetic testing in insurance: an interdisciplinary perspective

D Golinghorst, A De Paor, Y Joly… - Journal of Law …, 2022 - cambridge.org
Anti-selection occurs when information asymmetry exists between insurers and applicants.
When an applicant knows they are at high risk of loss, but the insurer does not, the applicant …

Genetic discrimination in life insurance: a human rights issue

J Tiller, MB Delatycki - Journal of medical ethics, 2021 - jme.bmj.com
We agree with Dr Pugh's general contention that there is ethical and philosophical support
for curtailment of insurers' access to, and use of, applicants' GTR in underwriting. However …